Oh My Gosch...

Did I fail to mention.....

2009-09-16T23:06:00.002-05:00

So - I've been SO bad at updating this blog lately!

Chris and I both have new positions at Union Pacific and Aubrey's therapy schedule is back in full swing after summer - so it's been extra crazy for us!

But - I am a horrible mom for not bragging right away on our blog about Aubrey's first steps...that's right I said steps (plural). It was on Wed August 26th at about 8:00 pm!

Here's my description that I wrote that night of the event:

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So Aubrey just made a huge break through tonight and I had to share! She was "playing" aka chewing on a big box of diapers we just bought from Costco. As I was opening the box up to get the diapers out - she got really excited.

Of course - she loves chewing on plastic WAY more than mere cardboard! Anyway - I turned the moment into practicing one of our PT drills. I placed her up with her back against the wall and had the plastic bag of diapers just out of reach to entice her step forward.....and she did! 5 real steps! I almost couldn't believe it so we did it again -and she took another 5 steps on her own. I gave her a breather as we hugged her, clapped for her, and cried. She got extra excited and seemed to "get" that she just did something special - which made me cry more :)

We tried one more time - and she actually took 9 consecutive steps!! It was on the 4th attempt it dawned on us to try and get it on video -but by then either fatigue set in or the allure of the diapers had faded - so no video yet - but I hope this isn't an isolated event and we can get some in the next couple of days!!! Video or Not - It was AWESOME especially since both Chris and I were there to see it!

I wouldn't classify her as a "walker" yet by any means but for the first time during this journey - I KNOW and believe that Aubrey will walk functionally one day (maybe even sooner than later!) I couldn't say that last year, last month or even last week. She's proven once again that she can do more than we expect!!
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As a follow up - I'm happy to report that Aubrey took another 9 steps on Friday Sept 11th at daycare and has taken 1-2 steps here and there over the last 2 weeks.

Her confidence and balance is getting better and better!

Least Dangerous Assuption

2009-08-27T12:50:00.003-05:00

Here is an article that was mentioned at the Angelman Syndrome Conference - I have SO much updating to do since we've been back - so I'll get to that at a later time - but for now - I did want to share this very powerful article - ENJOY!

The Least Dangerous Assumption
A Challenge to Create a New Paradigmby
Cheryl Jorgensen, Ph.D.

Imagine you are about to meet for the first time a young woman who will be coming to your high school this year. Before you do, the following was shared with you about her.Kim is a 16-year-old student who has a label of severe mental retardation. The usual battery of intelligence tests and adaptive behavioral evaluations have assigned her an IQ score of 40 and a developmental age of 36 months. She has seizures and sensory impairments. Her motor movements are jerky and uncoordinated, making it difficult for her to get around in small areas, write legibly, or use a computer. She is sensitive to certain environmental stimuli such as bright lights, loud noises, and rough textures in her clothing. She has no conventional way of communicating. She uses facial expressions and random vocalizations to express emotions. When she is frustrated by a task or situation, she runs away or sometimes hits herself or others. She does not appear to be able to read.

How does this information affect her parents’ and educators’ decisions about Kim’s educational program and adult life? Should you assume that these test results, labels, and observations are accurate representations of her current abilities and future learning potential? Do you advocate for her educational program to reflect content learning from the general education curriculum or is it based on teaching functional life skills? Should she be educated alongside students with significant disabilities only or included in a general education class?

In order to answer these questions, you first need to understand the prevailing paradigm, or belief, that governs the way that most people think about intelligence and intelligence testing, the label of mental retardation, and the vision that we have for students with this label. In this article, I want to propose and add my voice to the work of other parents and educators who believe that only by creating a new paradigm, or shared belief, of high expectations based on the principle of the least dangerous assumption can anyone, parent or professional, make decisions about students’ educational programs that will lead to a quality life in school and throughout their adult lives.

In 1984, Anne Donnellan, a respected researcher in special education, wrote that “the criterion of least dangerous assumption holds that in the absence of conclusive data, educational decisions ought to be based on assumptions which, if incorrect, will have the least dangerous effect on the likelihood that students will be able to functional independently as adults.” Furthermore, she concluded “we should assume that poor performance is due to instructional inadequacy rather than to student deficits.” In other words, if a student does not do well, the quality of the instruction should be questioned before the student’s ability to learn. Thus, for Donnellan, the least-dangerous assumption when working with students with significant disabilities is to assume that they are competent and able to learn, because to do otherwise would result in harm such as fewer educational opportunities, inferior literacy instruction, a segregated education, and fewer choices as an adult.

The Prevailing Paradigm
Thomas Kuhn (1962), a scientist-philosopher, defined paradigms as shared world views. These shared views are so strong and institutionalized that only a sudden and dramatic break from these conventional perspectives can bring on a positive revolution in thinking. What is the prevailing paradigm about disability and competence?

It is defined by four ideas:
1. Intelligence is something that can be reliably measured.
2. Mental retardation is defined as low levels of intelligence.
3. Students who experience mental retardation can’t learn much general education content.
4. Therefore, the benefits of attending general education classes are limited or do not exist.

When we aren’t sure that students know, understand, can learn, or have something to say, we presume that they don’t, can’t, and probably never will.

How Does the Prevailing Paradigm Impact Our Beliefs and Actions?
The influence of this paradigm is clear in both our beliefs about students’ abilities and in the decisions that we make about their educational programs.When people do not assume that students with disabilities are competent and able to learn general education curriculum, educational programs often have the following characteristics:

· Students are not included in general education classrooms. If they are, they participate in functional portions of instructional routines, but not in the discussion of ideas or content knowledge. Usually, students are given different materials and resources than those used by the rest of the class.

· People talk with students as if they are talking with a much younger child. They use words geared to perceived developmental levels or IQ scores as measured by traditional assessments.· Students are not supported to engage in social activities with same-age peers. Those activities are considered inappropriate or too advanced.

· Planning for students’ futures does not include the choice of a postsecondary education or their interests are not considered over their abilities. Career options are geared to lower-skilled jobs or sheltered workshops rather than to jobs in integrated workplaces that require higher-order thinking or literacy skills.

A Proposition
As Kuhn said, it is only when we question a prevailing paradigm that we can be open to changing not only our beliefs, but our actions. I propose that believing in the paradigm of mental retardation leads to low expectations for students with significant disabilities. These low expectations result in segregated educational programs, or programs that do not focus on literacy or content learning, and narrow visions for the future. Thus, changing our paradigm about intelligence and mental retardation is central to promoting students’ learning, inclusion, achievement, and quality of life now and in the future.

Flaws in the Construct of Mental Retardation
An important step in challenging the prevailing paradigm is understanding the flaws in the idea and assessment of both intelligence and mental retardation. Stephen Jay Gould (1981), an evolutionary biologist, criticized some of the earliest attempts at testing intelligence as being fraught with • • • bad science, politics, and racism that resulted in the mistaken conclusion that people of northern European descent were more intelligent than non-Caucasians. Howard Gardner (1984), an educational researcher, has criticized intelligence testing because the kinds of intelligence measured by traditional I.Q. tests (verbal and language skills and math and problem-solving skills) represent just one part of a complicated, multi-dimensional framework. Based on this logic, let’s agree that measuring intelligence is difficult, if not impossible. That means measuring the lack of intelligence is also difficult, if not impossible.

If we believe these things, then we ought to view the label of mental retardation with great skepticism.When we think about people with significant or multiple disabilities, in particular, this skepticism is justified. These are precisely the people who have difficulty communicating, whose bodies move erratically, and who have not been taught the language or skills intelligence and adaptive behavior tests measure.

How would you score on an intelligence test if you could not talk, write, or type accurately? If you were not exposed to or taught receptive or expressive language skills? How well would you do taking the test if the sensory environment of the testing situation was stressful or noisy?Another reason for questioning the prevailing beliefs about intelligence and mental retardation is a body of emerging research that shows that with high expectations, good instruction, and the support of assistive and communication technology, a growing number of people labeled mentally retarded acquire literacy skills and demonstrate intelligence beyond what would have been predicted by their test results (Biklen & Cardinal, 1997; Broderick & Casa-Hendrickson, 2001; Erickson, Koppenhaver, & Yoder, 2002; Erickson, Koppenhaver, Yoder, & Nance, 1997; Koppenhaver et al, 2001; Ryndak, Morrison, & Sommerstein, 1999).

A New Paradigm
If we are seeing more and more examples of people whose experience does not align with the prevailing paradigm—who show, when supported, they have learned more than we assumed they were able to learn, then a new paradigm must be developed that accounts for this. This paradigm would be characterized by the following ideas:

1. All people have different talents and skills.
2. Intelligence is not a one- dimensional construct, nor can it (or its absence) be measured accurately and reliably enough to base students’ educational programs and future goals on test results.

Children learn best when they feel valued, when people hold high expectations for them, and when they are taught and supported well.Let’s return to the story of Kim who was described at the beginning of this article.

If we “walk through” two scenarios that represent very different decisions about her educational program and use Donnellan’s principle of the least dangerous assumption to consider the potential impact of each decision, it might help us decide which path would be in Kim’s best interests now and in the future.

Influence of the New Paradigm on Our Beliefs and Actions
If schools adopt the new paradigm of least-dangerous assumption and the presumption of competence, the following would be evident:

· “Person-first” language is used so that people say “students with autism,” not “autistic students.”
· Language classifying students based on their functioning or developmental level is not used; rather, descriptions of students focus on their abilities and strengths.
· Annual goals on IEPs reflect content standards from the general education curriculum and the functional skills necessary for students to fully participate in the mainstream of school and community life. For example, IEPs would contain priority goals in all of the general education subjects and meaningful functional goals such as learning to use email, asking a friend out on a date, providing guidance to a personal care assistant, and putting on make-up or shaving.
•· Students are seen as capable of learning; educators do not predict that certain students will never acquire certain knowledge or skills.
•· People speak directly to students rather than speaking to students through a buffer supplied by paraprofessionals or other people who are considered to be assisting the students.
· People use age-appropriate vocabulary, topics, and inflection when talking to students. People do not discus students lack of skills or challenges in front of them unless they are a part of the conversation.
· Parents receive feedback regarding student success rather than highlighting student failures and disabilities.
· Staff members respect students’ privacy by discussing the students’ personal care, medical needs, and other sensitive issues out of earshot from others, and only with those people who genuinely need the information.

Five Reasons Why Our Least Dangerous Assumption Should Be to Presume Competence
There are at least five reasons why I believe our least dangerous assumption is to presume competence.

1. Human intelligence is a multi-faceted construct rather than a uni-dimensional characteristic and measuring it with a test is invalid and leads to mistaken conclusions about a person’s capacity to learn.
2. Assessments of students’ I.Q. are seriously flawed when they have difficulty communicating and movement challenges.
3. Research shows that a growing number of children and adults labeled retarded show they are more capable when they have a means to communicate and are provided with high quality instruction.
4. To presume incompetence could result in harm to our students if we are wrong.
5. Even if we are wrong about students’ capacities to learn general education curriculum content, the consequences to the student of that incorrect presumption are not as dangerous as the alternative.

Deciding on Your Least Dangerous Assumption
Those of us involved in the educational lives of students– parents, teachers, psychologists, speech-language pathologists, policy makers, and researchers – must decide what our least dangerous assumption will be and whether we can live with the possibility of being wrong. If we are not sure, we might ask ourselves:

· How would I want to be treated if someday I was unable to communicate or demonstrate my competence?
· How would I want others to treat my child if he or she were in the same situation?
· What do adults with disabilities tell us about their educational experiences and how they want to be treated?
· What does research tell us?
· What does history tell us?

Parents and educators of students with disabilities care about and want to do the very best for those students. Using least dangerous assumption as a guide is a powerful tool for keeping alive a vision of a valuable life and quality communities.

Scenario One:
Assumptions
We assume that Kim is not “smart” – that she does, in fact, have mental retardation, defined as significantly sub-average intelligence and ability to learn. How might she be treated?
Educational Setting
First, we might not try to teach her to read or if we did, it would be functional sight words. Second, we would speak to her in language more appropriate to a younger child. Third, Kim would probably spend her educational career being taught functional skills such as dressing, eating, shopping, cooking, and cleaning. In most states she would be educated in a separate classroom alongside other students who also have significant disabilities. If she did join the rest of the student body, it might be during lunch or perhaps a class such as music or art.
Communication Support
The communication vocabulary and supports that we would make available to her would correspond to our assessment of her sub-average intelligence and relate to the functional skills we were teaching. The messages might include “hi, bye, more, bathroom, hungry, break, I feel _____, yes, and no,” instead of age-appropriate social vocabulary and messages that would enable her to communicate about the general education curriculum.
Friendships and Dreams
We would not encourage her to participate in the typical social life of her same age classmates because we would assume that her disabilities were too significant for her to enjoy the same activities. Interactions between her and students without disabilities would be limited to their volunteering to be her peer buddy or helper. As she approached the end of her school career, the possibility of her attending college would not even be considered. Instead, we would plan for her to move into a group home, attend a day habilitation program or work in a sheltered environment, and pursue specialized leisure and recreational opportunities with other adults who have similar disabilities. We would not expect her to have opinions about world events, her future, love, or about anything else considered to be above her cognitive level.

Scenario Two:
Assumptions
We are not sure about what she knows or might be able to learn in the future…we don’t have conclusive data to guide our decision-making. But this time, we operate from a different set of assumptions. We treat her as if she is smart, because we distrust the validity of her test results in light of her communication and movement difficulties.
Educational Setting
First, we use a variety of methods to teach her to read. Second, we talk to her the same way we do other 16 year old students who have no disabilities. Third, we enroll her in general academic classes where we implement her reading program and support her with adapted materials and instructional supports. We take advantage of natural opportunities to teach her the functional skills that are essential for membership, full participation, and learning.
Communication Support
We talk with her about current events. We make sure her communication system includes words and concepts that are appropriate for someone who thinks about current events, love, relationships, and her future.
Friendships and Dreams
We encourage her to participate in activities that her classmates are involved in and provide communication tools and support for her to be successful. We encourage her to make friendships and assume she is capable of, and interested in, having friends. As she approaches the end of her school career, we prepare for a variety of options including postsecondary education as a graduation option. In addition, we plan for her to move into an apartment, own her own home, work at a real job, or travel.

Which do you think is The Least Dangerous Assumption?
It is now several years in the future. A remarkable discovery has made it possible to determine without question how smart someone is using a simple brain scan. Here are the results.

Scenario One:
The brain scan results show, surprisingly, that Kim has an IQ of 100. She does not have an intellectual disability. What are the consequences of our original assumption of a low IQ—of our being wrong? Has any harm been done?Most people say we lost an opportunity to teach her things she could have learned. We did not include her in the mainstream of general education as much as we could have and she did not develop a wide network of social connections or friendships. She missed out on the regular high school experience. It is possible we negatively influenced her self-esteem by treating her as if she were not smart. We narrowed the possibilities for her future career or post secondary education. And certainly, we wasted a lot of money pursuing the wrong educational program.

Scenario Two:
The brain scan results show that Kim has an IQ of 40. She does have an intellectual disability. What are the consequences of our original assumption of her intelligence being wrong? Has any harm been done?Most people say nothing has been lost. Even though Kim may not have learned much of the general education curriculum, her educational program offered her opportunities to develop life-long interests, to make friends with students with and without disabilities, to be part of the social life of the school, and to truly be part of the community after graduation. Because we took advantage of natural opportunities to teach her functional skills within the natural context of the day, she probably learned and generalized them better than if they had been taught as a discrete skill in an isolated or segregated setting.

NOTES:
1. Cheryl cautions readers to question traditional definitions whenever the words “mental retardation” or “intelligence” are used.

Cheryl M. Jorgensen, Ph.D., is an Assistant Research Professor with The Institute on Disability at the University of New Hampshire, A Center of Excellence in Disabilities; Project Director for “Beyond Access: A Model that Promotes Learning of General Education Curriculum Content for Students with Significant Disabilities;” and teaches students to become Inclusion Facilitators. Dr. Jorgensen is a co-author of Including Students with Severe Disabilities in Schools¸ and author of Restructuring High Schools for All Students: Taking Inclusion to the Next Level and The Inclusion Facilitator’s Guide (Available Fall, 2005 from Brookes Publishing).

Acknowledgements: The preparation of this article was supported in part by a grant to the Institute on Disability/UCED at the University of New Hampshire from the U.S. Department of Education, Office of Special Education Programs (#H324M020067). The opinions expressed herein do not necessarily represent those of the U.S. Department of Education or the University of New Hampshire.ReferencesAmerican Association on Mental Retardation (2002). Definition, classification, and systems of supports. 10th Edition. Washington, DC: American Association on Mental Retardation.Biklen, D., & Cardinal, D. (1997). Contested words, contested science. New York: Teachers College Press.Broderick, A., & Kasa-Hendrickson, C. (2001). Say just one word at a time: The emergence of reliable speech in a student labeled with autism. Journal of the Association for Persons with Severe Handicaps, 26, 13-24.Donnellan, A. (1984). The criterion of the least dangerous assumption. Behavioral Disorders, 9, 141-150.Donnellan, A. (1999). Absence of evidence: Myths about autism and mental retardation. TASH Newsletter, May 2000.Erickson, K., Koppenhaver, D., & Yoder, D. (2002). Waves of words: Augmented communicators read and write. Monterey, CA: Augmentative Communication.Erickson, K., Koppenhaver, D., Yoder, D., & Nance, J. (1997). Integrated communication and literacy instruction for a child with multiple disabilities. Focus on Autism and Other Developmental Disabilities, 12(3), 142-150.Gardner, H. (1983). Frames of mind: The theory of multiple intelligences. New York: Basic Books.Gould, S. (1981). The mismeasure of man. New York: W.W. Norton and Co.Koppenhaver, D., Erickson, K., Harris, B., McLellan, J., Skotko, B., & Newton, R. (2001). Storybook- based communication intervention for girls with Rett Syndrome and their mothers. Disability and Rehabilitation, 23, 149-159.Kuhn, T. (1962). The structure of scientific revolutions. Chicago: University of Chicago Press.Ryndak, D., Morrison, A., & Sommerstein, L. (1999). Literacy before and after inclusion in general education settings: A case study. Journal of the Association for Persons with Severe Handicaps, 24(1), 5-22.

Source:Disability Solutions: A publication of Creating Solutions, A Resource for Families & Others Interested in Down Syndrome & Developmental Disabilities, Fall 2005, Volume 6, Issue 3

Girls Weekend!

2009-06-12T16:29:00.003-05:00

Okay - the title might imply a fun trip to Vegas or a relaxing spa trip - nope. I'm merely referring to the fact that it will be me, Aubrey, and Molly all weekend long! We'll have a blast - but I know I'll be exhausted and empathetic for every single parent out there!

Chris is in Chicago for the Twins/Cubs series with some of his brothers. My parents would normally jump at the chance to come to Omaha and help me - but alas - they are in Chicago as well for the Twins game and a mini McGill family reunion!

Oh yeah - one of my best friends from work is there too.

So - - while just about everyone I know and love is in Chicago - Aubrey, Molly and I will be living it up here in Omaha!!!

I just hope the weather cooperates somewhat so we can venture outside!

Well - - that's about it for now - - I'll let you know how we survive the weekend!

Aubrey Started Horse Therapy

2009-05-21T22:43:00.007-05:00

Aubrey started Hippotherapy (aka Horse Therapy) this week at HETRA http://www.hetra.org/

Here's a little blurb from their website that explains it better than if I tried to:

HETRA serves a variety of clients including Children and adults with disabilities such as cerebral palsy, spina bifida, muscular dystrophy, cystic fibrosis, brain tumors, head injuries, blindness, autism, and strokes. Our students benefit from therapeutic riding in a variety of ways. The rhythmic motion of the horse at the walk helps to relax tight spastic muscles. Sitting on the horse encourages students to hold themselves up which strengthens neck and trunk muscles. Riding also stretches hip and thigh muscles, and improves balance. Interaction with the instructor helps students follow directions, extend their attention span and work on concepts such as right and left. Interaction with the horse allows the students to develop a bond with the animal that improves self-esteem and builds confidence. Each student rides for approximately 30 minutes one time per week, and most students are assisted by a leader and two sidewalkers throughout their session. Two of our instructors are Occupational Therapists who monitor the students progress throughout their participation in the program.

Okay - so how did it go - I know that's really what you want to read about!

It was a typical first session! Every first session with a new therapy it takes Aubrey some time to get comfortable and it takes even more time for the new therapist to really "get" Aubrey. We were ready for this though - it's a natural response for any of us in a new situation - so no big surprises.

We were very pleased with how well Aubrey took to the horse - she was not scared one bit and the horse didn't seem to mind her wiggling and squirming nature either. So I know in time the horse Kayla and Aubrey will become great friends!

Aubrey's biggest hurdle will be getting used to wearing the required helmet. She doesn't mind wearing it - but the straps that dangle down that are causing the problem. She was OBSESSED with chewing on them. It's all she wanted to do so she didn't tend to much else! We tried to tuck them away - but she'd find them or they'd eventually slip out - and then back to her incessant chewing. We'll likely buy a bike helmet for her to wear for practice - so she can get over the strap obsession!

Throughout all of it, Molly and I were watching from the sidelines and Chris was in the ring with them but not right up there. You could tell he wanted to jump in and help so bad - but until we're formally trained as a Side Walkers - we can't be right up there with her during the actual session. You see - in almost every other therapy we've started with Aubrey (Physical, Occupational, Speech, ect) it's usually Chris that gets Aubrey to initially tune into the session. He also provides a good example for the new therapists to see what Aubrey responds to best. Aubrey is such a daddy's girl - and he just has this special way with her to get her to focus. She missed out on this due to the safety rules this session.

But with more helmet practice, more familiarity with each other, and Chris and I getting "officially" trained - I think this is going to be really good for her. Her lack of control and balance is the biggest thing that is holding back from walking independently - so we think this therapy will really assist her in these areas!

Here are some pictures of her on the Kayla the horse - enjoy!

Angelman Walk A Thon was a HUGE Success!

2009-05-20T11:13:00.009-05:00

On Saturday May 16th - we had the Angelman Syndrome Walkathon at Shadow Lake Towne Center. There were similar walks taking place in 23 other cities across the nation - but this was the first one in the Omaha area!

We were blown away - especially given the fact that it was the first year!

Nearly 500 people were at the walk despite the cold and windy weather and we raised over $32,000 for the Angelman Syndrome Foundation!! This money will go directly to research projects for a possible cure and educational and support materials that will benefit all Angelman individuals including Aubrey!

We would like to thank each and everyone that showed up to support Aubrey at the Walk. She had a wonderful showing.

The UNO Dance Team came early in the morning to help with registration. They also did a small performance to get the event officially kicked off and finally walked together in support of their biggest fan Aubrey.

The Union Pacific Daycare made a big splash with the Pink and Green "Team Aubrey" shirts. They seemed to be everywhere! From Aubrey's current teacher Miss Katie - to her first one she had at 8 weeks old Miss Rebecca - they were all there in support! And Kathie - the director of the daycare - assisted with the whole set up and months of organization. She really went above and beyond to make the day a success for Aubrey and all the Angel families!

We were of course happy that so many of our family and friends from work and church could take part in the day with us as well. My parents and sister and cousins were all there. But we hope there are no graduations or confirmations that conflict next year - so we can get the whole clan together!! We did have our full "Omaha family" in attendance. Beth, Tonya, and Rebecca - my best friends in Omaha - were there in full force. Even 4 day old Brody Thomas made the walk!!!

Finally - we would also like to thank everyone that had the opportunity to donate to Aubrey's online fundraising page: http://www.angelman.org/TeamAubrey/

We're so grateful for your generous support! You were there in spirit!

Here are some pictures of the day:

Shirts designed by Jessica at Aubrey's Daycare - they are AWESOME!

We're waiting for the Walk to start!

UNO Dance Team doing a little performance to get things kicked off!

This is our attempt to take a picture with all the Angelman kiddos. Didn't get a good one - but there were about 15 children from 15 months to 20 years old with Angelman Syndrome in attendance. Most kids were from Nebraska - but we did have some participants from Iowa, Missouri, adn South Dakota.

Aubrey and her Daddy - practicing her steps!

Uncle Nate, Aunt Mara welcome Kara halfway through the walk!

Who knew the Buffalo Wild Wings mascot was an Angel too!!

Our family after the walk was all done!

What a great day - I can't wait for next year! Our wheels are already spinning on how to make it bigger and better!

Molly's First Birthday!

2009-05-08T20:54:00.009-05:00

We had a nice little party for Molly last night.

I still can't believe she's ONE!

Here's some fun pictures of the birthday girl and her party:

Aubrey's Room Makeover has Started

2009-04-28T09:24:00.004-05:00

So a while back I posted an entry called Heart Warming Phone Call.

Basically - Angie VonDollen, who owns her own design business called Bleak to Chic - volunteered her time and talents to give Aubrey's room a makeover.

Well - she started the project this Sunday - she was at our house from 12:00 to 7:00 painting, putting up a window treatments, and hand painting flowers on the accent wall. She's not done yet - as she's going to add some more hand painting, Aubrey's Name, pictures, and the Angelman Saying - "Though I may not talk, I have much to say!" into the design. But - here's a sneak peak at what its looking like so far - IT'S AWESOME!

She is such a gracious person and we are so thankful for her time and efforts!

If anyone in Omaha area needs an interior designer, a home stager, or consulting on any designs - please check out her business http://www.bleak2chic.com/index.htm

Molly Update

2009-04-28T09:14:00.006-05:00

So much of my time on this blog is spent giving updates on Aubrey, that I felt Molly should get her own post!! She will turn one on May 7th - - I can't believe how fast time flies!

She's crawling, cruising, and just last week took 14 steps un-assisted!!! She still prefers to crawl around -but she's up standing and testing her walking abilities more and more each day!

She also has been experimenting with her sounds. She'll jabber to herself -and try and repeat what you say to her. She will say mama, ball, uh oh, and said no at daycare last week.

Here are some pictures of her lately - I'll try and post a video of her walking as soon as I can!

UNO Dance Team Finishes 4th in the Nation!

2009-04-28T09:00:00.009-05:00

In my "free" time I also coach the University of Nebraska-Omaha Dance Team.
On April 9th, the team placed 4th at the NDA Collegiate Dance Championships in Daytona Beach, FL. Here are some pictures of the trip:

One of the team Dinners:

Nina on the beach:

Ashley, Alex and Maddie:

Being Silly:

Coach Amy, Only Senior Emily, and me

The team with the 4th place trophy:

Great Weekend - Wedding and Met another Angel

2009-04-20T10:46:00.002-05:00

This was a great weekend.

It started with my sister's wedding in Beresford, SD. It was so fun to see all my family and old friends and even better to see my little sister marry the man of her dreams.

CONGRATS to Mara and Nate Seier!!

We then capped off the perfect weekend by meeting another family with a child with Angelman Syndrome.

We had the pleasure of meeting Andria and Bart and their adorable angel - Kamaray (Kammy they call her). Kammy is just 2 months younger than Aubrey, however they just learned about her diagnosis about a month ago.

Andria found me on Facebook. I know her younger sister because she danced for USD. When they were all home for Easter her sister told her about me and Aubrey and encouraged her to send me a note! She did - and I called and talked to her for about 2 hours last weekend. WHAT A SMALL WORLD! For AS to be SO rare and have this connection through dance - CRAZY!

Anyway - they live in South Sioux City - so we thought it would be perfect for us to meet them on our way back from the wedding - and it was!

It was wonderful seeing Kamaray and hearing their tips, tricks, and diagnosis story. Kamaray - is very calm and steady - we were so impressed with this!!! She has just recently taken 3 unassisted steps = = so she is officially a ROCK STAR in our eyes!! But everything is so relative - and each child has their own strengths. They were so impressed with Aubrey's ability to feed herself and her willingness to eat any food and texture. Hopefully they will be good influences on each other - - Kamaray can get Aubrey up an walking and Aubrey can help her with her food aversions!!!

It was also so surreal to see how much they look alike. Kammy and Aubrey look more like sisters than Aubrey and Molly - CRAZY! I'm so mad that I didn't take pictures!! But I know we'll be getting together again some time so I'll take pictures next time!

I hope we helped them some with dealing with the new diagnosis. A year ago - we were them - just getting the news and all the sadness, devastation, and fear that comes along with the diagnosis. Its just good to meet other people that can relate - and that we can have as an additional support system.

Well - that's all for now!

Aubrey Started Speech Therapy!

2009-04-03T13:44:00.006-05:00

So after 11 months of being on a wait list Aubrey finally started the Scottish Rite Augmentative Communication Preschool program held at the Munroe-Myer Institute at the University of Nebraska Medical Center. She started last week - and two weeks into it we are so encouraged!

Here she is working with one of the instructors during their interactive book reading section.

The sessions are each Friday morning from 9:00 - 10:30 am. They are structured as a mini-preschool.

They....

* Review the schedule for the day
* Have a Short Lesson

* Have Song Time

* Interactive Book Reading

* Snack Time

* Goodbye Song

There are up to 5 students at a time with 3 therapists. The therapists are very engaging and use ALL forms of communication to work with the children. For instance, they'll be talking energetically while doing corresponding sign language. At the same time - they will be presenting picture choices to the children and for Aubrey - they even have a voice output device for her to hit. She's really new at this - and so it'll take time for her to get the cause and effect of it - but I'm so glad that we're starting this basic form of communication now while she's still so young!

One of my favorite parts they did was the Interactive Book Reading.

It was really neat to see. For the past 2 weeks they have been reading a "Making Vegetable Soup" book.

It's so neat how they put it together. They talk through the picture book and then each page - they bring out a more life-like toy for the children to do an activity with that corresponds to the story.

1st page: Planting and Tending the garden

So they bring out a watering can with actually water a toy plant. They also use toy gardening tools during this section.

2nd page:Picking the garden

They search for the plastic vegetables in a bucket of toy dirt

3rd page: Preparing the Vegetables
Clean the vegetables with a scrubber and "cut" them with a toy knife

4th page: Making the Soup

They then put the cut up vegetables in a big pot and take turns stirring with a big spoon.

I'm probably not explaining it very well - but it's really neat to see them at work. It's the first book Aubrey's ever been engaged in!

The other thing that has been so encouraging is that we've made some great connections with the other parents and kids already.

As I mentioned earlier - there are 5 kids in the classroom including Aubrey. The other 4 all have Down Syndrome. They are all awesome and very motivating! They are all walking, and some are speaking a few words already. All of them are pointing, clapping, and have some sign language. At the moment - Aubrey cannot do any of these things - but with practice and encouragement we are hoping she'll progress on her own time. Due to the Angelman Syndrome diagnosis - we know that she will likely never talk - but just to see those kiddos "understand" and respond is SO NEAT!

Another neat thing (I've used NEAT alot in this post!!) is that 2 of the kids have parents that work at Union Pacific like Chris and I! Also - there are two of the families that live in the same neighborhood that we just moved into! One just 5 houses down, the other maybe 4 blocks away!

How crazy is that - what a small world!

Well - that's all for now - can't wait to give more updates on the progress she's making!

Aubrey's Getting Braces......and NO not on her teeth!

2009-03-12T11:26:00.005-05:00

We just got back from the Pediatric Orthopaedic doctor this morning - add it to the the list!

THE LIST.....

Pediatrician - general health
Neurologist - for seizure control
Urologist - for kidney reflux
Gastro Intestinal - for the Pancreantitis scare
and now Pediatric Orthopaedist - for her ankles rolling in when standing and walking.

Anyway - Aubrey's Physical Therapist was getting concerned with how her ankles were rolling inward while standing and cruising in her walker. She referred us to an Orthopedist for further guidance. This morning we waited for about 30 minutes in one of the tiniest doctor's offices we've been in with both girls getting antsy and ornery! Then in a matter of 5 minutes we talked to a resident, the doctor, and someone named Jill?!

During this 5 minutes they determined that Aubrey would likely benefit from wearing a type of foot/ankle brace for support and to keep her feet properly aligned.

They took her measurements and told us they'd have them in 2 weeks for her.

After the excruciating wait - it happened all so fast - it seemed odd at the time - but hey - if they think it will help Aubrey -we're on board!

Here's a link to the specific orthotic device they recommended:

http://www.surestep.net/about.html#parents

Hopefully Aubrey will take to them well. I know how much she likes plastic, velcro, and any type of strap or tag - - so I just hope that she won't be extra distracted by them and want to try and chew on her foot all day!!

Ultimately, we hope it will provide her the ability to become more balanced - which we feel is the one thing that's really holding her back from independently stand and walk.

We'll see!!

That's all for now - - - I promise - more pictures will be coming soon!

Aubrey's Learning to Potty Train - this is HUGE people!!!

2009-03-02T12:31:00.003-06:00

So I've been really busy at work and fell slightly behind on this blogging thing!

But - I just have to share that we've been totally blown away with Aubrey this last week - she's becoming such a big girl!

Let me back up - last weekend eight Angelman Syndrome families got together in Omaha to meet, talk about the ASF Walk-a-Thon, and just pick each other's brains for a bit - IT WAS AWESOME!

Aubrey was one of the younger Angels there and it was great to get tips and tricks first hand. Anyway - after leaving the meeting last week - my husband and I were extra motivated to have Aubrey start potty training. Aubrey is 2 and a half and we just have been lazy up until now since she can't walk yet.

Anyway we talked to her teacher at daycare about and she was so excited to do it. We decided to just try and get her used to sitting on there every 2 hours. Quite honestly - we didn't expect much - and knew that it was likely to be a very very long process.

Long story short - Aubrey totally blew our expectations. On Thursday her teacher called me and was ecstatic to report that Aubrey had gone to the bathroom on the toilet!!! I was so happy I stood up at my desk and shouted out the news to everyone! But - again I sold Aubrey short and wrote it off as coincidence and a stroke of beginner's luck. Then after the second and then the third call of the day where she had a dry diaper, set her down on the toilet and she peed - we were over the moon.

It wasn't until she did it again for the 4th time that day at home for us that we started to think - - uh I thinks she's actually getting this on a cognitive level! On Friday - same thing - and we even got a call that she went #2 on the toilet. I yelled this one out at my desk too!! I have a friend with a "typical" daughter the same age - and she still hasn't done that yet!!

On Saturday Aubrey batted 3 for 4(her father missed the 2 hour mark - otherwise I think she'd be at 100%). She will still have a wet diaper after naps and overnight but other than that - since Thursday - she's basically waited to pee until she sits down!

Now - I know we're a long ways from being out of diapers or for her communicating to us that she has to go - but HOLY buckets she sure showed us. This initial step of her even making the connection and going intentionally I thought could take 4 years....but nope...Aubrey totally exceeded our expectations and did it in basically 4 days!

She taught us a great lesson this week - one I'm glad she got through to us while she's so young -- Never Underestimate her Abilities!!! We're so proud of our little girl and are so thankful for all the friends and family that are a constant means of support, encouragement and inspiration!

Yeah Aubrey!

That means.......Molly better get going....you can train a 9 month old to use the toilet - right! ha,ha!

Heart Warming Phone Call

2009-02-02T17:44:00.002-06:00

The background:
So.....as I mentioned earlier we just moved into a new house after selling our old house. During this process we've been working with a professional home stager/interior designer named Angie. She helped select colors, stains, and window treatments for our new house. We've met in person for a total of about 4 hours max. The last time she came about two weeks ago we had Aubrey(2 yrs; del+) and Molly (9 months) with us. This was the first time she met our kids.

The girls were loving crawling around the open space with newly laid carpet while we were asking her advice for window treatments. I was also asking alot of questions about what fun themes or color palettes we could do for both of the girls' rooms. During this visit she asked about the dutch door installed for Aubrey's room. This lead into our explanation of AS and Aubrey's diagnosis story. We then went back to talking about drapes vs blinds vs Roman shades and that was that.

Fast Forward to today:
Angie called and wanted to offer her services and that of her designer and carpenter friends to "do" Aubrey's room for free!! She said she was so moved by meeting Aubrey and hearing us talk that night and then by fate she was contacted for sponsorship for the first AS Walk in Omaha, NE only a couple of days after meeting Aubrey.

Melissa Yost is the chair for the Omaha walk and had contacted her at a local business to support the cause. Her niece is Delaney, our 7 year old hero with Angelman Syndrome that also lives in the Omaha area!! Angie began talking with Melissa and asking her more questions about AS and the Walk and Aubrey. It was at that point that she decided that she'd donate a gift certificate as a door prize for the Walk - but wanted to do even more for Aubrey.

So she contacted me with her idea and wanted to know if we'd be open to it and what ideas we had. I was so blown away!!

She had already contacted an artist that she's worked with in the past to do some mural work if we wanted something like that. She thought she'd want to include the AS quote " I may not speak, but I have much to say!" somewhere in the design.

Again - - it is so kind of her, a relative stranger to offer to do such a nice thing!! Wow - still in awe!!

I'll keep you posted - - and if you have any ideas for design - - send them my way!!

Crazy Day and Some Fun Pictures!

2009-01-26T21:46:00.010-06:00

Hi there.

Crazy day.....

SHORT BREAKDOWN
6:30 am - Dance Practice
8:00 am - Aubrey's Therapy Session
9:30 am - WORK!
11:30 am - Final Inspection at the house
1:30 pm - Finally eat something for the day - - end up taking a day of vacation - since it turned into such a crazy one.
2:00 pm - Finish some more packing for the move
3:00 pm - Take a much needed nap - -it was fabulous
5:30 pm -Make supper with the last bits of food that we have left in the house.
7:00 pm - Bath time!
8:30 pm - Work on the Computer
10:00 pm - Update the Neglected Blog
10:30 pm - Go to bed!

MORE DETAILS

Therapy Session

Aubrey had a great session! For 2009 we'll swap between PT and OT every Monday morning to open more time in our schedules for her new speech therapy sessions and the Elkhorn Early Intervention Program. Anyway - all that detail to explain that it had been 2 weeks since the PT had been with Aubrey. She could tell an improvement in just that short time with her balance and calmness.

We're working on one-handed walking and attempting to have her stand un-supported. Her balance is getting better every time we practice - and I know she'll get there!! It's amazing for me to think that a year ago she was not able to transition from laying to sitting on her own and now she's crawling and cruising all over the place! We still have no idea when independent walking will be a reality - - but it's fun to see her progress towards that ultimate goal!

After therapy - - I ran into work - got as much stuff done as I possible could before I had to get back in my car and drive out to the house for the final inspection.

Final Inspection

Okay - - - this took twice as long as I thought it would - but well worth it. It was our time to look over everything that we saw that needs to be addressed before the closing. It mostly very minor and picky painting imperfections and a few nicks on the woodwork. Nothing major - thank God! We close on Wed and then the real fun of moving begins. Thank you in advance for those that will be helping us during this process. Now if only the weather would cooperate!

Unplanned Vacation

So I wasn't planning on taking vacation this afternoon - but after the inspection got done at 1:30 and I still hadn't eaten anything - I knew the day had taken a unplanned turn! You should all know how things not going to plan works out for me!! Anyway - I just decided that it was best to take it as vacation and then finish some things up around the house and take a much needed nap! Boy I love naps. Chris went back to work and then brought the girls home from daycare - with supper ready to go!

Bathtime

The girls, as always, made quite the mess during supper tonight. I swear they forgot to feed Aubrey at daycare today :)! She snarfed down a full orange, 2 hotdogs, broccoli, and nilla wafers, and a crescent roll - -I sat in awe at the amount of food she ate!

Molly had her usually Cheerios by hand and oatmeal/baby food mix by spoon.

Here are some pictures when they we're all stripped down to their diapers before bathtime - enjoy:

Well - - that's all for now. Better get ready for bed so I can meet my 10:30 pm time frame!

More to come after the move!

So I'm not as good at updating as I used to be....sorry!

2009-01-16T16:22:00.003-06:00

It's Friday and I realized that it's been nearly a month since I've posted last.

I now have a Facebook account - so my old "blog" time is now spent stalking old and new friends on the book - not really productive - but very addicting.

Anyway - - here's a quick run down:

* Christmas was great - although we missed the big McGill party. It's hard to believe that all 10 of the original "McGill's" were present - - I missed seeing everyone and introducing Molly to those who have not met her yet :(

* New Years was fun! My parents came down to Omaha and we had a nice dinner/circus at The Stokes Bar and Grill. If you can only imagine a relatively high end establishment on NYE with 2 high chairs - it was a circus - but great food and fun! We then took advantage of the free baby sitting and went out with some friends - finishing the night with Rockband and Wii!

*We just learned that Aubrey is now accepted into a great speech therapy program sponsored by the Scottish Rites here in Omaha. It's a 1 1/2 hour session one day a week for the next three years. She was on the waitlist for 10 months - so we're very excited to begin!! She'll be in a "classroom" type setting with 4-5 other special needs children that have severe speech delay or non-verbal like Aubrey. The whole goal will be to help Aubrey and the other kiddos learn how to communicate via other means (pictures, voice out-put systems). It will be so nice - as Chris and I are still pretty clueless when it comes to all the strategies you can and should do to help Aubrey.

*Molly now has two teeth, is crawling, pulling herself up in the crib and on tables, and loves to eat her solids! Basically - she's growing up over night! It's so amazing to see how fast she develops and picks up on things. It can be bittersweet for a split second when you see her move beyond Aubrey's level already - but for the most part - it's so great to have Molly and Aubrey together - - they are going to have such positive impacts on each other throughout their entire life!

*We close on our new house in 12 days!!! We're so excited!!!

*The UNO Dance Team is in middle of preparations for NDA Nationals. We're 3/4 of the way done choreographing the routine and we're LOVING it - - can't wait to compete in April!

Well - - that's all for now - - I promise - - pictures are coming soon of the girls, the house, and heck maybe we'll even get one of Chris and I!

Long Time Since I've Posted

2008-12-12T14:13:00.002-06:00

Well - -

It's been nearly 2 or 3 weeks since I've had a chance to post anything.

The week after Thanksgiving - I got very very sick. I basically couldn't hold any food down for 4 days in a row and lost about 15 pounds. Not exactly the best way to lose my baby weight - but I'll take it. I'm feeling much better now. Aubrey was sick during that time too - but she seemed to bounce back quite well. Molly was the only member of our family that did not get the flu.

Anyway - that's why I've been so behind with everything. With all the time spent getting caught up at work and at home -- I've had little time for my blogging!

So what did you miss:

1 - House is going to be done last week of January.

It's starting to look like a real house - they have all the drywall, doors, trim, and cabinets up now and just started painting and staining the inside this week. It's starting to become pretty real that we'll be moving into a new house in nearly a month - -CRAZY!

2 - Welcomed another Angel to the AS Family.

About a month or so ago a mother in Connecticut contacted me after seeing pictures and videos of Aubrey on this blog. She saw so many similarities with Aubrey and her son Jack. Jack is about a year older than Aubrey and still did not have a diagnosis other than PVL. Well - - fast forward to this week - -and Jack received his blood work back confirming that he is deletion positive for Angelman Syndrome(same at Aubrey). How neat that Aubrey and this site helped another family across the country find an answer. What a neat thing!

Both Jack and Aubrey have the PVL brain damage in addition to AS - -this, as I understand it, is VERY VERY RARE - - maybe a handful of cases in North America. I'm glad that we'll have each other through this journey.

Welcome to the family Melissa and Jack!!!

3 - Getting Ready for the Holidays

We can't wait to go back to South Dakota for Christmas to see everyone. We'll be in Beresford the night of Tue Dec 23rd and be there until Fri Dec 26th. We'll head up to Aberdeen Friday afternoon and drive home Monday the 29th. I can't wait to see as many family and friends as possible!

Well - - that's about it from here in Omaha. I really need to get more pictures and video up of the girls - because let's be honest -you'd much rather see that than read - right!?!

That's all for now

Posting from the road!

2008-11-30T14:28:00.002-06:00

So this post is basically a test of technology for me! We're driving back from Aberdeen SD and I'm on my Blackberry.

We had a great time eating, shopping, seeing old friends, and even got out to see a movie!

You know that game High - Low,here are mine for the weekend:

HIGHS:
* Getting nearly 90% of my Christmas shopping done!
* Meeting Justin and Amy's children...Hey guys!!
* Seeing Aubrey get more adventurous with her crawling and walking!
* Hearing Molly babble more.

LOWS:
* Chris getting sick.
* Uncle Seth getting sick.
* Grandpa Gosch getting sick.
* Forgetting my camera's memory card.

Other than a nasty flu bug..this weekend was perfect.
I love the holidays and it was a great way to kick it off!

Now back to the 6 hour car ride!

Some Random Pictures

2008-11-25T22:27:00.007-06:00

My mother-in-law just chastised me for falling behind on posting pictures!!

So - - this is for you Ardys:

Here are some pictures of Aubrey at Physical Therapy from last week. She's practicing her walking on a Rifton gait trainer.

In this picture you can see the small little ankle weights she has on - they seem to help her balance a bit.

Here's a cute one of Chris and Molly after a Vikings win and Molly showing off her skill of sitting up on her own!

We'll have to take and post a bunch of pictures this weekend!!

That's all for now!

Another ultrsound and set of blood tests.

2008-11-24T14:15:00.004-06:00

Ultrasounds and blood tests seem to be the trend this fall for Aubrey. This morning she had - what I hope will be her final ultrasound this year. It's her 3rd in the last month following her hospitalization for pancreantitis.

But good news - - the nurse just called me to relay that everything came back normal!

She also called with last Thursday's blood tests - and her amalyse and lipase levels are finally down to a normal too. As a reminder - her lipase levels were once at 15,000 when she was in the hospital. This is compared to the normal range of 20 - 300. Just 2 weeks ago they were 1000, and now they are 292 and are therefore acceptable! YEAH!

Lipase is an enzyme that the pancreas creates that is used to breakdown lipids(fats). Because of her high levels - - Aubrey has been on a very restricted diet since leaving the hospital -- only allowing 5 grams of fat per day. It's been a little challenging to do this - and she has to be getting sick of eating the same type of food day in and day out. The nurse is going to check with the doctor to see if he will loosen up her diet to say 10-15 grams a day so hopefully we can bump this up in time for the holidays. That would be great - - but if not -- we have it down pretty well!

She has one final blood test the first week of December - and if that one comes back normal - hopefully Aubrey can avoid these for a long time!!

UNO Dance Competition - done and a success!

2008-11-24T13:58:00.005-06:00

We just completed another busy weekend.

As you may or may not know - I coach the dance team at the University of Nebraska - Omaha in my "free time." I say that - as my free time is getting less and less by the day. But while others do book clubs or golf leauges - - I coach a college dance team. It's my creative release and it helps keep me somewhat sane.

Anyway- we hosted our annual dance competition yesterday. It was a long, busy day - but was a huge success. In one day we raised nearly 40% of our operating budget! This money will go towards funding our trip to NDA college nationals in Daytona Beach, FL in April 2009. Last year the team placed 5th in the nation - - and we hope to improve upon that this season! I have a wonderful group of young ladies that dance for me and I'm just glad that I can keep dance in my life while being a mother, wife, and a career professional.

Aubrey turned 2 on Saturday!!

2008-11-16T22:14:00.008-06:00

We had a great birthday weekend...but I'll have to do the detailed post later! Chris and I are actually trying to watch a movie now that the girls are in bed -- but I did want to get a couple of pictures up.

For more pictures - go to this site: http://www.dropshots.com/egosch#date/2008

Late Night Laugh!

2008-11-13T22:32:00.003-06:00

Aubrey was extra active tonight and we let her stay up about 2 hours past her bedtime (oops!).

Anyway - - she was standing at her play table as she always does and then all of a sudden we looked over and she had crawled up on it!! We've been working on crawling up the stairs alot - -I guess she took it one step further!

We're still laughing! The picture's a bit blurry - - but here she is looking so proud to be sitting on the table!

New Aubrey Video!

2008-11-10T23:12:00.002-06:00

I captured some video of Aubrey practicing her walking tonight.

Here's the link:
http://www.dropshots.com/egosch#date/2008-11

It's so great to see her up and moving. It's amazing to me to see how much she's done in 1 year!

Have a good night and enjoy the clip!

Weekend Update!

2008-11-08T23:36:00.002-06:00

I just got done watching SNL's Weekend Update and it reminded me of the fact that I've neglected to post for a while. So here goes...

It was quite the historic week. You probably think I'm referring to Obama's win. Historic as it is, nope. Instead - I'll forever link this week with the time the Gosch family all got sick on my birthday week. (Yes that's right I said week. I don't take just one day - I try my best to claim the entire week. I would try for the whole month - - but Thanksgiving starts to compete so one week will suffice!! ha ha.)

Anyway.

Quick Recap of the Week:

Mon
This was my actual birthday. 28 years old - crazy how time flies. We had some plans to go out to eat after work - but they quickly changed when I started to feel sick - I went to bed at 6:30 pm instead.

Tue
I stayed home sick and slept most of the day. I found enough energy to go to the doctor (ended up with a sinus infection) and I voted.

Wed
I still felt under the weather - but needed to go to work, however it was Chris' turn now - he stayed home sick with a fever, sore throat, and aches - fabulous.

Thur
Molly had to stay home from daycare because she picked up pink-eye and another case of thrush- yippee! Ironically Aubrey was the only one of us that didn't miss a day due to being sick. However - not sure if I'd really classify her as feeling healthy. She's still battling one heck of a cold!

Fri
The week did end on a high note though. Some old friends from high school were in Omaha for the weekend and we met up for supper at the Cheesecake Factory - -Yummy!

Jenni - this is for you - -since you check this quite often:
*** It was great to see you JJ, Justin, and Jamie - - wow that's alot of Js! Anyway - I'm glad you got a chance to see the girls. Give Cain a big hug and tell the rest of your family HI!

Sat
And here we are today. Today's big event - laundry and oh yeah - I finally broke down and joined Facebook. I swore I would never do it - - but I think it may be my next obsession - ha,ha. We also enjoyed the Huskers win over Kansas - a much better result than last year's embarrassment!

Well - - that's all for now.

Okay I lied - one more thing. It's Aubrey's 2nd birthday next week so I promise to have more pictures and videos to post -- in the meantime - enjoy the hilarity of last year's fete:

http://www.dropshots.com/egosch#albums/2007_Aubrey%201st%20Birthday

I have a feeling that she'll be just as messy this year - we'll see!

Okay - - now that's all - later!

Halloween Pictures

2008-11-01T15:22:00.007-05:00

We had a pretty un-eventful Halloween - - it was fabulous! We went out to eat and then came home and played with the girls a bit before they went to bed. But don't worry - there was ample opportunity to dress up the day before at the daycare Fall Festival.

Here are a couple of pictures:

Aubrey's Class at Daycare. All the kids love her - -they all call her "Aubie"

Aubrey, Molly and Aubrey's teacher Miss Katie. Molly was zonked out for the costume parade.

Aubrey was so excited when Chris got there!

Aubrey and a friend from daycare - she's doing such a good job sitting balanced on the chair.

Molly the Duck! PS - Aubrey wore that last year at 1 year old and it fit Molly pretty well at nearly 6 months!

That's all for now - -I hear the kids getting up from their nap!

Welcome to Holland

2008-10-27T09:46:00.003-05:00

When Aubrey was first diagnosed in March - I was given this story. I ran across it again today and thought I'd post it since it's such a great analogy and it served as a great reminder for me today to get my attitude back on track!

You see, despite having a wonderful time at the Ollie Web Dance on Saturday I did have a bit of sadness afterwards. It made me think of what Aubrey will be like as an adult. It pained me to think about the severity of her diagnosis. A large majority of the individuals at the dance had Downs Syndrome. They were such a joy- talking, interacting, laughing, dancing. It hurt to think that the majority of people present would be much higher functioning that Aubrey will ever be. I know that sounds defeatist and negative -- but it's the truth. It's not wrong or bad it's just our Holland.

Anyway - before I get all whiny (probably too late) - - here's the real reason for the post.....

WELCOME TO HOLLAND
by Emily Perl Kingsley.

I am often asked to describe the experience of raising a child with a disability - to try to help people who have not shared that unique experience to understand it, to imagine how it would feel. It's like this......

When you're going to have a baby, it's like planning a fabulous vacation trip - to Italy. You buy a bunch of guide books and make your wonderful plans. The Coliseum. The Michelangelo David. The gondolas in Venice. You may learn some handy phrases in Italian. It's all very exciting.

After months of eager anticipation, the day finally arrives. You pack your bags and off you go. Several hours later, the plane lands. The stewardess comes in and says, "Welcome to Holland."
"Holland?!?" you say. "What do you mean Holland?? I signed up for Italy! I'm supposed to be in Italy. All my life I've dreamed of going to Italy."

But there's been a change in the flight plan. They've landed in Holland and there you must stay.
The important thing is that they haven't taken you to a horrible, disgusting, filthy place, full of pestilence, famine and disease. It's just a different place.

So you must go out and buy new guide books. And you must learn a whole new language. And you will meet a whole new group of people you would never have met. It's just a different place. It's slower-paced than Italy, less flashy than Italy. But after you've been there for a while and you catch your breath, you look around.... and you begin to notice that Holland has windmills....and Holland has tulips. Holland even has Rembrandts.

But everyone you know is busy coming and going from Italy... and they're all bragging about what a wonderful time they had there. And for the rest of your life, you will say "Yes, that's where I was supposed to go. That's what I had planned."

And the pain of that will never, ever, ever, ever go away... because the loss of that dream is a very very significant loss. But... if you spend your life mourning the fact that you didn't get to Italy, you may never be free to enjoy the very special, the very lovely things ... about Holland.

Ollie Web Halloween Dance

2008-10-25T23:34:00.003-05:00

Tonight was a great night!

I coach the University of Nebraska-Omaha Dance Team in my free time!(ha...what free time!)

Anyway - tonight the team, along with Aubrey, Molly and I helped with the Ollie Web Center's Halloween Dance. The Ollie Web Center is an organization for the advancement of children and adults with disabilities. There were over 150 individuals with varying disabilities that attended the event. It was a BLAST!

We all dressed up - I was a baseball player, Aubrey was the cutest ballerina ever and Molly was a little duck!

My dance team members had fun mingling and serving food and they really did a great job of keeping the dance floor active all night. They spontaneously started a limbo line and a congo line and were teaching a few dance moves (and learning a few too)! One of my dancers said it was the most fun dance she had ever been to over all the high school and wedding dances in her life!

It was so fun. I can't wait to get the pictures up!

Well - I'm wiped out - I'm going to bed!

That's all for now.

Free...she's free at last!

2008-10-24T13:37:00.006-05:00

Sorry to keep everyone up to date and then just drop off like that!!

The last 3 days have just flown by. After Aubrey continued to eat and drink with no problems and had improving blood results - she was finally released just before noon yesterday - - YEAH!

After nearly 4 days of the hospital - we were all ready to go back to life as usual.

After all the tests and discussion - it was decided that Aubrey had a mild case of pancreatitis. There seems to be some disagreement among the GI doctor and the Neurologist as to whether the depakote(anti-seizure medicine) caused the problem or not. They cannot prove that it was the depakote for sure, on the other hand they cannot rule it out completely either.

Regardless - -Aubrey will no longer be on Depakote and we'll try and control her seizure disorder with Topomax. Aubrey will be followed closely by the neuro as we do not want her to start having seizures again. It's been 2 months since she's had one - and she's just finally gotten her confidence back and has improved on her gross motor skills - - we want to keep going forward - not backward.

The other change that will come out of this hospital visit is Aubrey's diet. Because Aubrey's pancreatits impacted her lipase levels (an enzyme that breaks down fat) she will need to adjust her fat intake to allow her pancreas to fully heal. It was explained to us to be a 2-3 month process. For this first week out of the hospital - Aubrey will be limited to eating only 5 grams of fat for the entire day. She will then go in for more blood tests and if they continue to progress - she will slowly add in more fat week by week.

For comparison purposes - she usually drinks a cup of whole milk with calorie supplements 5-6 times a day and each cup of whole milk has 5 grams a fat alone!! So to keep it to just 5 grams for the whole day will be a bit of a change. We stopped by the store and stocked up on fruit, veggies, and anything with a Fat Free label on it. She doesn't seem to mind the change so far and already loves the Fat Free hotdogs!

She's back to her smiley self and we're so glad!

Thank you again for all the family and friends that helped us get through this week. I don't know how we would have survived without your help. It's such a blessing to have a great support system both near and far away.

Thanks again.

That's all for now.

What a difference a day makes!

2008-10-21T20:23:00.002-05:00

Okay so here's the update.

The CT Scan results came back and by 8:00 pm - we finally had an update from both her neurologist and the GI specialist!! It was the longest day of waiting - but I feel much better with having a plan.

There was nothing troubling found in the CT scan(yeah!) - in fact the pancreas wasn't even too inflamed so Aubrey is lucky that she's had a very mild case of pancreatitis.

Throughout the day Aubrey gained back her energy and smiles and is doing so much better. In the words of her neurologist tonight...."I thought I was supposed to see a sick child....where is she?"

She received the okay to try liquids so her sippy cup is back in action! And we should be getting some food for her very soon.

The GI specialist gave the okay for her to be removed from isolation status - - I think I'm most excited about this. We'll actually be able to leave the room and take a walk. So after we give her a little food - which I pray she takes down no problems - - we'll take a trip to the big play room!

As for the treatment plan - she will start up again on her Topomax for seizure control and we'll monitor closely with her neurologist - we'll need to have a check-up with him first thing next week. The GI doctor would like to keep her in the hospital for 2-3 more days to monitor her food intake and check her blood and enzyme levels. Once he's satisfied that she can hold food down and her levels trend back in the right direction - he'll send her home. He did mention that Aubrey will need to follow a strict low-fat diet for a few months. This made us laugh - because until now - we've been advised by a nutritionist to pump extra calories as much as we can with butter, cream, higher fat items due to her low weight! Oh well - maybe if Aubrey is on a strict diet - she'll help me with mine and I can start to lose that baby weight!

So it sounds like more waiting - - but at least we can venture out of the room and not be hooked up to the IV anymore - yeah!!

What a difference a day makes.

Thanks again to everyone for your support. Aubrey especially loved all the visits and gifts she received today.

Tonya and Rebecca - Thanks for dropping off lunch and movies!

Delany, Kerri, and Evelyn - Thanks for the laughs and the ladybug toy! I hadn't seen Aubrey laugh for over 3 days - amazing what another Angel can bring out! Sorry our visit got cut short.

Beth - Thanks for supper and the visit - I'm so glad you had a chance to meet Delany and her family. I only hope that Aubrey can grow to be such a kind, well behaved, smart girl like Delany - - isn't it great to see the possibilities in real life!

Brian and Heather - Thank you for the plant and stuffed animal! I know you wanted balloons - but the Big Bird pot is pretty darn cute! I wish you lived here too - but someone has to keep South Dakota's District 32 in order!

UP Marketing and Sales - Thank you for the balloons and stuffed animal. Aubrey loved them both.

Well - - Aubrey is zonked out so I might take this opportunity to catch up on some sleep myself.

It's still amazing to me what a night and day difference 24 hours can make.

That's all for now.

Still in the hospital...still waiting

2008-10-21T09:24:00.005-05:00

It was a long night - she slept maybe 4 hours total. With her sleeplessness coupled with the nurse checking vital signs every 4 hours - it made for a pretty restless night. What I would give for a nap and shower!

Anyway - right now Aubrey and I are just sitting in room 412 waiting for the next experiment to be done.

At about 9:30 this morning - she'll take some chloral hydrate to sedate her for the CT Scan. The CT Scan will look for any congenital defects to the pancreas or the area around the pancreas. It will also check to see if there is any internal trauma from a fall she had last week at daycare. They are hoping they won't find anything on the CT Scan - but need to do it before they recommend any further treatment.

I'll let you know - how it turns out.

In the meantime - - I want to thank some people for helping us out.

Beth - - Thank you for picking up Molly from day care and spending time with her last night until Chris got home! Sounds like she fits in well with the Weist clan!

Ardys - - Thank you for driving down from Aberdeen, SD to help us manage this hospital stay while clearing out and cleaning our house for this Friday's closing date. Not sure how we'd be able to do it with out you.

Mom and Dad - - Thanks for helping with the move this past weekend and calling the church for us because we're too stubborn to do it ourselves!

Rebecca and Bernie - - Thank you for helping us move this weekend as well! We still owe you a supper!

Pastor Helvig - - Thank you for arranging help on Wednesday night to move the rest of our items to storage - -it is greatly appreciated.

Todd/Cindy/Melissa - - Thank you for being awesome and supportive throughout this and all our struggles with Aubrey.

Thank you to all our friends and family for the thoughts, prayers, emails, cards. It means a lot.

Thanks and - they are here now - - gotta go!

Aubrey Update

2008-10-20T17:47:00.002-05:00

Well - everything is pretty status quo here.

Aubrey is still hooked up on an IV for fluids. She hasn't had any food or drink - hopefully she can start those tomorrow.

We have talked to the GI specialist and he's put a hold on 3 of the 5 medicines she typically takes as they may be causing and/or aggravating the pancreantitis. He ordered a CT scan and additional blood work. The CT scan will be tomorrow under some anethstesia so Aubrey can't move.

She's still quarantined to her room. Her mood is pretty good considering the fact that's she's been out of the crib only a few time today. We gave her a bath and then I've had to cuddle a couple of times with her!

I think tomorrow will be much better - we'll hopefully get more answers, try some real food and take her for a walk in the hallway or go play in the toy room.

Thank you for all our friends and family for helping with Molly!

That's all for now

October Surprise...and its not a good one.

2008-10-20T10:57:00.002-05:00

While politicos are determining what the "October Surprise" will be for this Presidential Campaign....the Gosch family knows what our October Surprise is......Pancreantitis.

At 1:30 in the morning we learned that Aubrey has pancreantitis.

Aubrey started vomiting at 6:00 am yesterday and could not hold anything down the entire day. We thought it was just a flu bug but after 12 hours of not keeping any liquids down we brought her to the ER for fear of dehydration. At the ER they ran some blood work as a precaution. It was during these blood tests they found indications of problems with her pancreas and suggested she be admitted to the hospital for more immediate care.

They are still trying to determine how Aubrey got the pancreantitis - but the likely suspect is her anti-seizure medicine Depakote.

We're basically playing a waiting game. Until Aubrey is seen by a G.I. specialist she can not eat or drink anything. Therefore she's stuck on an IV in her hospital crib. We're also waiting for the Neurologist to provide some ideas of what to do for the siezure control if in fact the Depakote is causing Aubrey's health problems.

Ahhh - it never ends!

Thank you for keeping us in your thoughts and prayers - we'll keep you posted.

Bath Time Follies!

2008-10-14T12:04:00.004-05:00

Just thought I'd do a quick post about the girls and their bathtime last night. Usually I give them separate baths - but last night I tried giving them one at the same time.

Aubrey started first and then after I washed her hair I let most of the water out but left just enough for Molly to lay in.

Oh my - what a hoot! I've never seen them interact with each other quite that much. They were both laughing so much and so loud. If you really get Aubrey going - her laugh is something pretty special - but Molly she's only 5 months and her giggles have been pretty few and far between and they are usually pretty quiet. Not last night. She had a great time watching Aubrey bop around the tub and thought it was hysterical when Aubrey would crawl around/on her. Aubrey would then feed off of Molly's laughs and would get even more excited.

It was so cute and really more efficient too!

Thats all for now

Are you ever ready?

2008-10-10T13:56:00.004-05:00

Last night we had the opportunity to meet up with my cousin Kelly and her husband Matt. They are expecting their first child in January. We're very excited for them. As fellow parents - - I think it's easy to get excited when others join the club so to speak.

Kelly reminds me so much of myself just two years ago -- before Chris and I had kids. I had never changed a diaper, really didn't feel comfortable around babies, and I had no clue what to do to be a good mother.

As she was expressing those same feelings last night - - I gave her the proverbial "it'll just come to you naturally" line that I was often agitated about when I was pregnant the first time! But I guess it is true and now that I've lived through it - - there really seems like no other way to describe it other than that. No matter how many books you read, or people you talk to, or how many TLC shows you watch - - you can never really feel ready. But despite all that - it does work itself all out.

I guess the same has been true for Aubrey and her Angelman Syndrome. Just as no one seems to feel ready for parenthood in general - - no one is ever ready to be a parent of a disabled child. And once the diagnosis comes and all the articles have been read, the advice has been mulled over, and the therapies begin -- you're still not "ready." But that's okay too. I realized last night that the same message I gave to Kelly about her apprehensions of welcoming a newborn into their lives I need to remind myself of - - "it'll just come to you naturally"

Kelly and Matt will be great parents and they will beautifully navigate through the joys and trials that parenthood brings just as Chris and I will continue to be great parents to Aubrey and Molly - no matter what their differences may be.

So while you may never be fully "ready" at least it's comforting to know that you can still be okay!

That's all for now.

PS - - Kelly and Matt - it was so great to see you last night. I can't wait to see if it's a boy or a girl!

Campfires, Pumpkins and More

2008-10-06T10:17:00.006-05:00

Well -we had quite the weekend!

FRIDAY

On Friday night we hosted our last Friday Night of Fun at our house before we have to start boxing things up for our move. It was great. We had some friends over for pizza and then Chris even brought out the fire pit and we roasted marshmallows and talked until all the kids fell asleep. Other than the fact that Jeremy and Beth weren't there - it was a perfect evening.

SATURDAY

The fun didn't stop there. My parents came down from South Dakota for the weekend too. My mom can go about 3 weeks without seeing Molly and Aubrey so she was due for a grandkid fix. We had a pretty lazy Saturday of watching football, playing with toys, having bathtime, and a trip to Target. So funny how life changes with kids and a trip to Target is "the" event for the night!

Also funny how we never seem to leave the toy aisle without a little something for the girls. Aubrey really lucked out this time and received an early birthday present. It's a table for her to play at. It's a perfect height for her to pull up on her own and practice standing while playing with toys. Here's a link to a video of her standing up to it. Thanks GRANDMA!!!

http://www.dropshots.com/egosch#albums/Videos

SUNDAY

If that wasn't enough for one weekend we went to Vala's Pumpkin Patch on Sunday afternoon. I wasn't quite prepared for how big this place was! Wow! They had hay rides, petting zoos, a train, multiple food venues, and a 5 acre corn maze. None of which we really participated in!! I think the girls will get way more out of it in a year or two.

Our basic goal was to try and get a good family picture - a feat which is nearly impossible with how fast and fidgety Aubrey moves and how young Molly is - - but we tried anyway - - here are the best ones. Note it's almost better when we don't know that there's a picture being taken from behind!!

After about 2 hours my parents had to leave to start back home - - and we were just about to leave too - but we thought we'd go check out one area that we hadn't seen yet. So glad we did or we would have missed Aubrey's favorite part!! She loved the "Pumpkin Pillow" which is basically a huge air-filled surface that kids can jump on trampoline style. She was giggling the whole time!! Here she is on it:

It was a great weekend of campfires, pumpkins and more!

- That's all for now.

Amazing Story!

2008-09-30T15:33:00.004-05:00

Here is an amazing story of Regie Hamm.

For those of you that don't know, Regie Hamm wrote the winning American Idol song "Time of My Life" that David Cook sang at the finale and that was performed at the opening ceremonies of the Bejing Olympics.

His daughter has Angelman Syndrome like our Aubrey.

http://blog.myspace.com/index.cfm?fuseaction=blog.view&friendID=54139274&blogID=423067994

Wow - - what an amazing story!

Pictures On Line

2008-09-28T22:48:00.000-05:00

So I never actually print off any of my pictures - so I thought I could at least put them on-line so I can share them a bit easier.

Here's the site for our photo albums.

DropShots.com/egosch

Visitors from Rapid City

2008-09-28T19:50:00.003-05:00

Thought I do a quick update before the work week starts.

We had a great weekend with a visit from Brian and Heather Gosch and 4 of their 5 children. Brian is one of Christopher's older brothers. They live in Rapid City, SD and it was great to have them in town.

Chris and Brian went to the Nebraska - Virginia Tech game on Saturday. Heather and I had a "girls day" of shopping.

It was a fun time - -I wish they lived in Omaha. I think if it were up to their oldest daughter - they'd be in Omaha too (she loved the shopping)!!

That's all for now

Great Therapy Session!

2008-09-25T12:16:00.003-05:00

We had our first session with Aubrey's new occupational therapist(OT) at Children's Hospital today. IT WAS AWESOME!

First let me step back and give you snap shot of what Aubrey has been doing in regards to therapy. She's been doing a mix of OT, physical therapy(PT), and speech therapy for 1 session a week since this January via the state's early intervention program. The early intervention program focuses on using the natural environment of the child's home and daycare to help achieve the desired goals. They do a great job providing techniques and ideas that we can do with Aubrey to help her fine tune her gross-motor, fine-motor and communication skills.

So far the main focus has been on PT and we only see the OT maybe 1 or 2 times a month at the most and the SPL only 3 times total. We've had a great experience - but thought Aubrey would benefit even more if we took her to an out-patient facility that would have more equipment to use. So we've been on a waiting list to get into the program at Children's Hospital and just got in.(We're still on the wait list for speech/communication therapy.)

Anyway - starting next week Aubrey will have 3 separate therapy sessions: 1 with early intervention; 1 with Children's hospital PT and 1 with Children's hospital OT. Hopefully it will be beneficial and won't become overload for her. You never know what's too much or not enough. I guess if she keeps making progress and is still engaged and liking it - we'll keep the therapies going.

Okay - so back to today's great session - the real reason for the post.

Our main goals in OT are finding ways to calm and "organize" Aubrey so she can focus on one task at a time and to work on fine motor skills such as pointing, cause-and-effect play, and the like. Aubrey has a huge oral sensory need. She is constantly seeking things to put in her mouth and chew on. Over the last few months - her sippy cup has become her favorite item. She uses it not only to drink but to chew on the mouth piece to soothe her. At home and especially in past therapy sessions it is sometimes the only thing that keeps her happy and calm. It's becoming too much and she is over-using the cup and it's becoming a security blanket. The problem with a sippy cup - - you can't really cut that one out of the routine all together - - Aubrey needs to drink! It's been very hard to determine when she is really thirsty or when she just wants to drink/chew on the cup for some soothing.

We're experimenting with different tools to provide this for her without using the sippy cup. So today the therapist brought out a nuk brush for Aubrey to chew on while we played with toys to help calm her down. It worked really well through out the entire session.

Then it really got good when Aubrey got to sit on the therapeutic swing. The swaying kept her more calm so she could tend to the activity of putting things in and out of a bucket. She's fabulous at getting things out and dumping the bucket over.....we're still working on putting things back in! We'd continue to use the Nuk brush as her "chewing" reward after the activity was complete. It was so nice that she was using this vs the sippy cup.

After the swing we came down and played with a pop-up cause and effect toy. No interest in it and she was fidgeting all over. Then the OT laid a vibrating, heavy tube around her and just like that she sat still and humored us by shutting one of the pop-up animals. Now she still didn't care too much about the toy - but she was sitting still for at leat 1 minute. If you've had the pleasure to see Aubrey in person - you know that this is a BIG deal!!

Aubrey's favorite part of the session was swinging in what looked like a small mesh hammock. I'll have to take pictures of this next week. Anyway- Aubrey was laughing so hard! Her laugh is the most precious sound in the world. When you have a non-verbal child - - the miracle of this noise is un-comparable!!!

The last toy we played with was probably the best. It was one of those toy pianos with four notes. We have a similar one at home that she shows no interest in at all. Well the OT had attached different textures to each key. (picture coming next week of this too!) One key had a small piece of carpet attached to it. The other had bumpy dried glue on it, there was one with a row of garbage ties,and another with a flat piece of felt. I've never seen Aubrey make as much noise on a musical toy ever!!!! She was never motivated by the actual sound of hitting a red key - - she however loved feeling the carpet over and over again - so we heard that note a lot!

Aubrey only fussed for her sippy cup two times the whole hour - -and she drank from it and then threw it down when she was done and then we played more. This was so nice to see.
It was a great session!!

Well - that's all for now - lunch break is over and I have to get back to work!

A Few Pictures of Summer 2008

2008-09-24T21:53:00.012-05:00

Pictures of the new house

2008-09-24T21:20:00.005-05:00

So Chris and I had the "electrical walk through" today for our new house that will be completed sometime in November/December time frame. It seems so simple in nature, but it's a rather daunting task to select where we want electrical outlets, cable outlets, and phone jacks to be located. Think about it, have you ever had a place or been to a house where you thought...."why is there not a plug in here - it seems so logical, " or "who's the idiot that put the cable outlet here!" I fear we'll be cursing ourselves out at some point down the road based on our decisions today! Oh well - - in the scheme of things - - it's not that big of deal. After all - there's always extension cords!!

Here's a picture of where we're at in the process:

Pretty exciting. I've been a bit more invested since we sold our current house!

As a reminder we're closing on October 24th on our current house. If you've done the math - - you've probably realized that our new house won't quite be ready yet. All I can say is thank GOD for great friends. One of my best friends in Omaha got married this summer and they moved into his house leaving her house open and fully furnished. She is being so wonderful by letting us stay at her house for the month or two before our new house is ready. Granted it is on the market so we'll need to keep it clean and free from Molly or Aubrey's spit up - but it's such a relief and will be so much better than having to find an apartment for 2 months.

THANKS BETH - you're the BEST!

Okay - that's all for now.

Genetics of AS

2008-09-23T15:11:00.006-05:00

So my sister is in her second year of med school and they covered Angelman Syndrome very, very briefly last week (5 minutes tops). I mention this as it provides a great introduction for the following information - - but also to help people realize just how rare and how little even today's doctors know and study it. Don't get me wrong, there have been great advances and there are certainly a handful of specialists that spend more than 5 minutes learning and studying the syndrome - however it's just something to ponder.

Anyway - the information provided below is a detailed breakdown of the genetics of Angelman that was given to us from a geneticist that we saw in July. For those people that enjoy learning medical information, enjoy. For others, feel free to wait for the next post - this may give you a headache!

For comparison purposes, Aubrey is Deletion + meaning she has AS caused by an out right deletion of part of the 15th chromosome. As you'll soon read, this happens to be the most common form of AS, occurring in 70% of AS individuals.

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Genetic basis of AS

For several decades the chromosome study of AS individuals revealed no abnormalities, but with the development of improved methods a very small deleted area was found in chromosome 15. Molecular methods such as FISH (fluorescence in situ hybridization) now demonstrate a deletion in about 70% of individuals with AS. The deleted area, although extremely small, is actually quite large when viewed at the molecular level. It is believed to be about 4 million base pairs in length, enough to contain many genes.

The deleted region on chromosome 15 is known to contain genes that are activated or inactivated depending upon the chromosome’s parent of origin (i.e., a gene may be turned on on the chromosome 15 inherited from the mother but off on the chromosome 15 inherited from the father). This parent-specific gene activation is referred to as genetic imprinting. Because the deletions seen in AS only occur on the chromosome 15 inherited from the mother, the gene(s) responsible for AS were predicted to be active only on the maternal chromosome 15. Disruption of genes that are active on the paternally-derived chromosome 15 is now known to cause another developmental disorder termed the Prader-Willi syndrome (PWS). The PWS gene(s) are actually located close to the AS gene, but they are different.

In 1997, a gene within the AS deletion region called UBE3A was found to be mutated in approximately 5% of AS individuals (22, 23). These mutations can be as small as 1 base pair. This gene encodes a protein called a ubiquitin protein ligase, and UBE3A is believed to be the causative gene in AS. All mechanisms known to cause AS appear to cause inactivation or absence of this gene. UBE3A is an enzymatic component of a complex protein degradation system termed the ubiquitin-proteasome pathway. This pathway is located in the cytoplasm of all cells. The pathway involves a small protein molecule, ubiquitin, that can be attached to proteins thereby causing them to be degraded (24). In the normal brain, the copy of UBE3A inherited from the father is almost completely inactive, so the maternal copy performs most of the UBE3A function in the brain. Inheritance of a UBE3A mutation from the mother causes AS; inheritance of a UBE3A mutation from the father has no detectable effect on the child. In some families, AS caused by a UBE3A mutation can recur in more than one family member.

Another cause of AS (2-3% of cases) is paternal uniparental disomy (UPD), where the child inherits both copies of chromosome 15 from the father, with no copy inherited from the mother. In this case, there is no deletion or mutation, but the child is still missing the active UBE3A gene because the paternal-derived chromosomes only have brain-inactivated UBE3A genes.

A fourth class of AS individuals (3-5% of cases) have inherited chromosome 15 copies from both mother and father, but the copy inherited from the mother functions in the same way that a paternal chromosome 15 should function. This is referred to as an “imprinting defect”. Some AS individuals with imprinting defects have very small deletions of a region called the Imprinting Center (IC) (25, 26). The IC regulates the activity of UBE3A from a distant location, but how this regulation occurs is not known. In some cases, AS caused by imprinting defects can recur in more than one member of a family.

Genetic mechanisms leading to AS.
Rectangles represent chromosome 15. Hatched chromosome has paternal pattern of gene functioning and DNA methylation; open chromosome has maternal pattern. AS can be caused by a large deletion of the region of the maternal chromosome 15 that contains UBE3A, or by a DNA sequence change (mutation) in the UBE3A gene inherited from the mother. AS can also be caused by inheritance of 2 normal copies of UBE3A from the father with no copy inherited from the mother. Another cause of AS, referred to as imprinting defect, occurs when the chromosome 15 inherited from the mother has the paternal pattern of gene functioning and DNA methylation.

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Sorry for all the detail -- I just find it fascinating.

One thing I often ponder is what size of deletion Aubrey has and if that size of deletion translates into the severity of presentation. I've never gotten a clear answer on this. However, I was happy to learn that there are some current studies looking into this as well as how the different types of AS impact the individual.

Conventional Wisdom indicates that deletion + cases may be more severe (more seizures, less success with communication, life skills, ect) than say the mutation cases however I refuse for that to be our reality.

Well - - that's all for now.

Playing with Delany

2008-09-22T12:42:00.001-05:00

When we first learned about Aubrey's diagnosis - we had the privilege of finding another family in the Omaha metro that has a 7 year old daughter with Angelman Syndrome. Her name is Delany and she is a true inspiration for us. She is walking, potty-trained, and is working on mastering a Dynovox(computer device that allows non-verbal children to communicate). My eyes watered when her mother told us she takes dance class!! For those that know my love for dance - - you can only imagine how happy I was to hear this.

Anyway, it's been so nice to hear their story and things from their perspective on everything. We went over to their house last night to start planning for the 2009 Angelman Syndrome Walk. We'll be hosting one in Omaha for the first time next May and there is a lot of work to do to get it up and running.

As we were talking and brainstorming all our ideas Aubrey and Delany were playing - it was very nice to seem them interact. We also had the opportunity to meet Delany's maternal and paternal grandparents. They were so smitten with Aubrey - - you could tell that it brought them back to 5 years ago when Delany first got her diagnosis.

It was a nice night and I really look forward to spending more time with them in the future.

That's all for now...

Molly is 4 months old..time sure flies!

2008-09-22T10:18:00.000-05:00

I can't believe how fast time has gone by since Molly was born on May 7th. We had her 4 month check up last week and she's in the 99th percentile for height and 97% for weight..aka a big girl!!

It's so fascinating to watch her grow and develop. She started rolling over from front to back about a month ago and just last night she rolled from back to front for the first time. She's also babbling quite a bit, has the cutest giggle and shows so much interest in certain toys.

Given Aubrey's special needs, I know many people want to know if Molly is "okay." I know most people mean... does she have Angelman Syndrome? No, Molly does not have AS and is "okay" but Aubrey has AS and is "okay" too! We're so blessed to have them both! If anything - I guess Aubrey just makes us that more aware of how precious and miraculous those small milestones really are.

That's all for now...

Aubrey - An Angel on Earth

2008-09-22T09:01:00.000-05:00

Aubrey - An Angel on Earth
One of the main reasons I created this site was to share Aubrey's story and here it is.

Aubrey was born on Nov 15, 2006. She was born full term with no complications. She was a great baby - no feeding problems, started sleeping through the night relatively early, and was very social! We first noted her developmental delays around 6 months. Her pediatrician told us not to worry at the time, but if still concerned at 9 months with gross motor, fine motor and speech delays that we should see a Developmental Specialist.

Concerned

By 9 months we were still concerned - while she was making some progress, it was very slow. She was still not making any babbling noises, was not crawling or transitioning from sitting, was not displaying "typical" play skills (not banging things together, no clapping, not much interest in toys). We then contacted the school system for the Early Intervention program and made an appointment with a Developmental Specialist (we would have to wait 4 months to get in). Aubrey started PT/OT and some speech work one time a week in January 2008. We were very encouraged to see how well she was responding - especially with the gross motor skills but were still anxious to visit the specialist.

See a Specialist in Jan 2008

On Jan 15, 2008 - we had our appointment with the Developmental Specialist. She evaluated Aubrey for about 2 hours. Her major concerns were her head size (when she was born 25%; at 6 months 10%; at one year 4%; at check-up it was off the charts) and she also noted her "herky-jerky" movements and her happy and silent demeanor. She ordered an MRI and chromosomal blood work to investigate what was causing her delays. These tests occurred on Feb 15, 2008. (Knowing what we do know - I find irony in the fact that all these appts/tests were on the 15th of each month!)

PVL diagnosis

Anyway, we received the MRI results back the next week. We learned that Aubrey had Periventricular Leukomalacia (PVL). This was explained as mild brain damage affecting the area of the brain that is associated with muscle and motor control. The three most common problems resulting from PVL are: cerebral palsy (CP) ; developmental delays (including mental retardation) ; and behavior problems. The doctor told us that PVL can affect patients in such a wide variety of ways. Some children, through therapy get "caught up" on their development and only show a bit of clumsiness in their movements. Others will develop severe CP and will need the use of wheel chairs and feeding tubes. Our doctor remained hopeful that Aubrey would be on the mild spectrum - however it was too early to tell exactly how it would affect her motor and cognitive abilities long-term. This was the first blow. We had an "answer" - but were even more confused on what it really meant for Aubrey and her future. The range was so large that it was hard for us to grasp what to expect. We continued with her PT and were waiting for the blood work to come back. But to be honest we were dealing with the PVL diagnosis that we didn't think the blood work would show anything that would make things "worse." We weren't worried at all - we just focused on learning more about PVL and enjoyed Aubrey for who she was and the progress she was making.

Angelman Syndrome Diagnosis

Fast forward to March 2008. I received a call from the Doctor's office requesting a meeting on Thursday to go over the blood results. My heart sank - I knew that it had to be something big - otherwise she would have done it over the phone. On Thursday, March 13, 2008 - we met with the doctor and she started to explain that Aubrey had a deletion on her 15th chromosome and has what is known as Angelman Syndrome. My head was spinning. I thought Aubrey only had to conquer PVL - now she has to deal with AS too. The doctor explained that the two are un-related and she had only found a handful of recorded cases in the world where patients have both but that the AS will be the more prevalent of the two.

What is Angelman Syndrome?

Angelman Syndrome (AS) is a rare neuro-genetic disorder characterized by intellectual and developmental delay, lack of or minimal speech, seizures, sleep disturbance, movement and balance problems, and frequent laughter or smiling. AS is caused by a deletion or inactivation of genes on the maternally inherited 15th chromosome. There are estimated to be between 1000 and 5000 cases in North America. For a more in depth look and explanation of AS - please visit the Angelman Syndrome Foundation site at the following link: http://www.angelman.org/angel/index.php?id=75

So What does that really mean?

Aubrey will require 24-7 care for the rest of her life - yet there are so many more opportunities for people with disabilities than say 20 years ago. With the advances in medicine, therapies, and the general acceptance in today's educational system – she has a much better chance to live a long, active, and fulfilling life. Aubrey is a joy to be around and it is impossible NOT to be happy around her or start smiling. She may have her challenges in life - but she will always be there with a smile and non-stop energy to tackle them. She provides a constant reminder to cherish life and its gifts.

Oh My Gosch....the first post!

2008-09-22T08:55:00.000-05:00

Oh My Gosch(mis-spelling intended).....2008 has been crazy...and it's not done yet! We've had alot of major events occur this year and it's been nearly impossible to keep everybody up-to-date. I created this site and this entry specifically to get everyone informed and save our phone bill (he,he!!)

So... here's my attempt to get you all caught up. I'll try my best to be brief - but for those that know me - - this might be quite the task. I'll then try and post 1-2 times a week on Aubrey and Molly updates and in the event Chris and I have anything exciting to share - I'll let you know that too!

Anyway....here goes.....in chronological order:

Start Process of Building a New House
Chris, Aubrey and I were loving life and were anticipating the birth of our second child in May. We knew that we needed more room than our existing house could provide and so we started the process of building a house. Chris really could provide a whole entry just on this - but I'm trying to be brief - so let's move on.

Aubrey's Diagnosed with P.V.L and Angelman Syndrome in March 2008
After some concerns with Aubrey's development and missed milestones of babbling, crawling, and play skills, we consulted a developmental specialist. The MRI indicated that Aubrey has PVL, which is mild brain damage that controls motor skills. The blood tests came back 3 weeks later giving Aubrey a diagnosis of Angelman Syndrome(AS). In the words of the doctor "a double whammy."

Angelman Syndrome (AS) is a rare neuro-genetic disorder characterized by intellectual and developmental delay, lack of or minimal speech, seizures, sleep disturbance, movement and balance problems, and frequent laughter or smiling. AS is caused by a deletion or inactivation of genes on the maternally inherited 15th chromosome. There are estimated to be between 1000 and 5000 cases in North America. For a more in depth look and explanation of AS - please visit the Angelman Syndrome Foundation site at the following link: http://www.angelman.org/angel/index.php?id=75

Aubrey will require 24-7 care for the rest of her life - yet there are so many more opportunities for people with disabilities than say 20 years ago. With the advances in medicine, therapies, and the general acceptance in today's educational system – she has a much better chance to live a long, active, and fulfilling life. Aubrey is a joy to be around and it is impossible NOT to be happy around her or start smiling. She may have her challenges in life - but she will always be there with a smile and non-stop energy to tackle them. She provides a constant reminder to cherish life and its gifts.

Molly is Born May 7, 2008
Continuing on the roller coaster of life, the lows in March were soon followed by a high point with the birth of our second daughter Molly. She was born on Wednesday, May 7th at 9:00 am. She was 8 lbs 8 oz and measured 20 inches long. Much like Aubrey, she had a TON of hair only hers was dark brown instead of blonde. Now the first question people want to ask is "she okay" meaning does she have AS too. No she does not, while we haven't done the official blood work to prove it - there was less than 1% chance she'd have it, and we can already see the difference in her vocalizations and strength of movement that Aubrey did not have. Each milestone she passes is a true blessing. She'll be a great model for Aubrey and while it's a little crazy to have them only 18 months apart - I think it will be the best for both of them.

Summer: My brother Seth lives with us this summer while he interns at Union Pacific - FULL HOUSE!
The day we arrived home from the hospital with Molly, my brother Seth moved in with us as he was interning at Union Pacific..why not! We had a full house but it was great to have Uncle Seth around. He got to change his first diaper and see Aubrey and Molly grow so much over the course of the summer. We're glad that we could have him stay with us.

Aubrey's Seizures start in July
As I mentioned earlier, seizure disorder is one of the characteristics of Angelman Syndrome. The statistic is that 80% of AS people have seizures - we were hoping Aubrey could be part of the 20% however that was not the case. She had her first partial complex seizure in late July, she had a few more of those and a large amount of drop seizures(at one point up to 20-30 a day). Since that first seizure we've been on a journey of finding the right medication and right dosage that will control her seizures with as little side effects as possible. We have been blessed with great medical teams in Omaha and are glad to report that Aubrey has been seizure free for just about a month. We will always have to keep a close eye on this though and might as well have a neurologist on retainer!

Selling our House
To fill our life with even more excitement (the PC term I use for stress), in August we embarked on revamping our house so that it could "POP" as our real estate agent puts it. We put in a lot of time and money dry-walling, painting, cleaning, adding new window treatments, replacing hardware, light fixtures, and windows. It was a ton of work and is no small feat with 2 infants - but well worth it. We just signed papers yesterday to sell the house and we'll be closing in late October!!! Out new house won't be ready until Nov/Dec time frame - - so we're working on our interim living situation. . . ahhhh it never ends!

Summary:
2008 continues to be a roller-coaster of joys and challenges - and that is one thing that we can all relate to. We have been blessed with a great family, wonderful friends and we know that the rest of 2008 will be GREAT!

That's all for now....