Long Time Since I've Posted

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!

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

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.

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!

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!!

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!

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!

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!

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

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

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

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!

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!

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

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

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.

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!

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?

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

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!

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....