Amazing Story!

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

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

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!

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

Pictures of the new house

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

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

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!

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

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!

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....