Time Just Flies...

Wow! I can't believe that it is almost 2010! I haven't posted for over a month now, and I feel so bad about that. We have had an extremely busy month with doctors and therapy visits. First update is regarding Irelyn's hips. She had an appointment with the Ortho 12-23-09, and we found out that she is progressing nicely and is now able to have 8 hours of free time out of the brace each day! YEAH!!!! The appointment before that was 12-08-09 and they gave her 4 hours of freedom and she loved that, so you can imagine how happy she is to have 8 hours each day! She just kicks her legs and straightens them out. It is wonderful. She doesn't like going back in it though that is for sure!

The next part of exciting news for little Miss Irelyn is that she is now able to take 30 cc's (one ounce) of formula by mouth at Occupational Therapy! I know that doesn't sound like much, but it is a huge feat for her as we started out with pretty much 0 cc's by mouth two months ago! She drank that 30 cc's (the most she had ever done) on 12-22-09, what a great Christmas present! We were so very proud of her.

Today at therapy Irelyn had cereal for the first time!!! This was so neat! She was so happy to have food in her mouth. Her little tongue was just going all over the place and she really enjoyed it and did so well. Again another step to be so proud of. She is our little trooper. She will be going to Children's Mercy Hospital on January 20th, 2010 to have a swallow study done to ensure she isn't silently aspirating. Once she has that done and depending on how she does, we may be able to start offering her a bottle at home!!! I can't tell you how excited I will be if I will be able to actually feed my baby a bottle at home when she is being fed rather than 100% G-tube feedings.

She will be four months old next week and I can't believe how time just flies by. It really is kind of scary. I am trying to be in better spirits as I watch my beautiful daughter get stronger each day and accomplish huge tasks that at one point I feared she never would. Thank you all who follow us. I promise to try and update more in the new year. I wish everyone a safe and happy new year!

The Watters

Irelyn's First Thanksgiving 2009 and other updates!

I can't believe that Irelyn will be 12 weeks old tomorrow! Time is sure flying by so quickly. Today was her first Thanksgiving and it really turned out to be a nice day. We truly have a lot to be thankful for this year. Irelyn is an absolute blessing from God and our entire family adores her. She is doing very well with her weekly therapies. We have started getting therapy at home with a wonderful early intervention program through the state of Missouri called First Steps. The ladies are excellent and extremely knowledgeable in their fields and if everything goes as planned, they will both have the opportunity to work with Irelyn until she is three years old. One comes for Occupational Therapy which helps Irelyn work on her eating from a bottle and also with upper and lower body strength. She works on head control with her and does tummy time, along with different stretches. It definitely wears poor Irelyn out but the reward will be so worth it. The other lady is a Physical Therapist and she will basically whole body therapy. While she is so young it will be focused on more head control and learning how to roll over and just gaining strength. Again this makes Irelyn sleepy pretty quickly but she is getting stronger everyday.

Some other great things to update everyone on is that Irelyn still continues to go to Occupational Therapy at Children's Mercy South once weekly, and she has now increased to being able to take 20 cc's of formula by mouth for the last three visits!!! We are so excited about this, as we started out with her not being able to take any, and then she increased to 5 cc's, then 10 cc's, and now she is at 20 cc's. Although she eats much more than that at a time through her G-tube, this is still amazing progress and we are so proud of her.

Irelyn got her 2 month immunizations two weeks ago and did really well. I was really scared to have her get them. I know that they are important, however I was worried about what may go wrong. In the end she did great and is up to date on all her shots!

She is getting so big. She is starting to be awake for longer periods of time which is great. We love that. She is also smiling now and is just beautiful when she does it. Her whole little face just lights up and she gets so happy. She is also cooing now. It is great to see her interacting. Some days I get so down about her syndrome, and once she smiles at me, it makes me stop feeling sad. She is an amazing little person and we are so lucky and thankful to have her in our family.

Thank you all for following our blog. We will continue to update as things change. She has a follow-up with the Ortho Clinic on December 8th with a repeat hip ultrasound and we are hoping that we will be able to take her out of the harness for longer periods of time. We are hopeful this happens as she is so much happier when she is able to kick and stretch her legs freely. I hope everyone had a blessed Thanksgiving Day with your families.

The Watters

Frogger legs....

We took Irelyn to see the orthopaedic doctor at Children's Mercy Hospital on Tuesday October 27th to get the results of her hip ultrasound she had done on the 16th. She has developmental hip dysplasia in both hips. The surgeon said that they are not dislocated so that is a good thing. However they are subluxed, which basically means her hips are loose and need to be kept in a frogger leg position with a harness that she is wearing and will have to remain wearing for twelve weeks. Her hips are not actually dislocated or displaced therefore surgery won't be necessary. It looks fairly uncomfortable and she was pretty fussy for the first couple of days.

Irelyn continues to have OT twice a week to work on feedings. She is still only able to take 6 cc's by mouth before she tireds out. She takes 72 cc's every three hours through her Mic-Key button so she still has a long way to go in terms of oral feedings. She is getting stronger each day and we are confident that she will be able to take more and more by mouth each week.

Since Irelyn typically has three to four appointments each week we have decided that I will not be returning to my full-time job. There is no way that can happen. I am working a full-time job now at home managing all her therapies and appointments along with my two other kids schedules. Jeremy is having to work alot of extra hours and is sacrificing his time away from the family in order to make sure we can pay our bills and stay on top of things. I appreciate his willingness to do this for us without any complaints. He is wonderful and I love him deeply. While I will certainly miss my friends that I worked with and the job that I did, I am grateful to be able to stay home with Irelyn and take care of her. By not working outside of the home I am able to keep her protected from additional germs that I would have been exposed to at the hospital. She will have OT tomorrow and then she will have a much needed break for a couple of days that are appointment free! Yeah!

Thank you for reading and checking up on our precious gift from God. She is a wonderful addition to our family and we all adore and love her more than we can say. We will post when we have more news.

The Watters

Irelyn's busy week!!!!!

Sorry for the late posting. We have had a busy week! Irelyn had her follow up appointment with the surgery clinic on Tuesday with Dr. Snyder. This was a waste of time! We were literally in the room with the surgeon for like 4 minutes total!!!! I couldn't believe it. Oh well that is okay I guess! Then she had OT on Wednesday and Thursday. On Wednesday Irelyn did fantastic with her exercises on the ball. She was having tummy time to help improve her neck and head strength. The therapist couldn't believe how great she did! She did her exercises for about 20 minutes and then the OT offered her a bottle. Well that didn't go well. She was absolutely exhausted and wouldn't take one cc. We hooked up her tube feeding and decided to call it a day. Dad was able to take her to her OT Thursday while mom had a doctor appointment of her own. They decided to offer her a bottle BEFORE exercising and apparently that helped out some. However, Irelyn still was only able to take 6 cc's before tiring out and then was switched to the g-tube for completion. And finally to end our week today, she had an ultrasound done on her hips just to make sure everything looks okay. We are trying to learn all that we can each day about the syndrome and the things that go along with it. These kids are at risk for developing hip dysplasia and that is why her pediatrician wanted a baseline ultrasound done. Of course we don't know the results. We pray to God that it will be normal.

This is how most of our weeks will be for awhile to be certain we give Irelyn all the treatments and therapies that she needs to in order to do the best she can do in life! In light of this Jeremy and I have decided that I will not be returning to work full-time. Instead I am going to try and work one night a week in the ER on Jeremy's nights that he is home. We will see how this goes. Those who know me well know why I say that. :0)

October 8th

First of all happy Birthday to Wendy.
This week has brought lots of answers to our questions, but still there are unknowns.
PT is slow going as Irelyn still gets sleepy why trying to feed with the bottle. She has only taken 5cc at both sessions so far. We saw specialty care today and she increased her intake to 65cc every 3 hours. We are also going to increase by 5 cc every week for 4 weeks. We have seen good weight and length gains so far. Today she weighed 7lbs. 5 oz. was 20 1/2 long. She still is really sleepy most of the time but does have periods of staying awake. Tuesday she was awake for 3 hours straight.

Wednesday we went to KU (University of Kansas) to see Merlin Butler, he is one of the foremost experts in the world on Prader-Willi. He operates one of only 4 PWS specialty clinics in the US. The other 3 are at UCLA, Vanerbilt, and University of Florida. He sits on the board for PSW and is the editor of "the bible" of PWS. He is extremely knowledgeable about PWS and is getting us in contact with other families in the metro that have a PSW member. Our questions where asked and answered here they where.

How long will she have the g-tube?
It will depend on her as every case is different, but as a general rule about 9 months or so.
This really helped Wendy out as he reassured her that Irelyn would eat but at her pace.

Milestone at what pace?
Usually double what is normal for children.

Growth Hormones? When to start and do you recommend then?
Yes, he recommends themas they are standard of care now(even now as tx for PWS, insurance companies fight not to pay for them, it might be because they are around 40,000 a year for 18 years). As for when to start, he said we have time around 6 months to 1 year or so is what he recommends.

Should we get vaccinations?
Yes, there is no increased risk for PWS and EVERYONE in the house has to get both flu and h1n1 vaccinations.

We agreed to do further genetic testing on both mine and Wendy's part to see if Irelyn has UDP or misimprinting on my part as misimprinting can be passed on. We also agreed to do some testing of Irelyns urine to see if she has adrenal deficiency as this is a MAJOR cause of people with PWS to die prematurely. This is also needed before she is started on growth hormones.

Other important things we learned: Our congressman that represents our area had a child with PWS that died and he is a big supporter of the cause, there will be a fundraiser sometime in the spring for PWSUSA, Irelyn is doing as she should with someone with PWS, and the state rep for PWS lives in our city. We go back in a month to see Dr. Butler and thank god for him being here so close to us. He told us he sees families from all over the midwest as he has been doing this for 30 years.

This says it all

Irelyn

Hello all, both Wendy and I are going to try out this blog thingy. We will update it as often as we can an try to post pics weekly.

For those that do not know Irelyn's story here it is.

Irelyn was born September 4 at 14:27.
She was 18 3/4 long and weighed in at 5 lbs. 15 oz.

She was born with general low muscle tone and would not feed by mouth. We spent 3 days in Menorah's NICU before Irelyn was transferred to Children's Mercy NICU.

While everyone was WONDERFUL at children's 14 days seemed to last forever. After being seen, tested and examined by just about every doctor in the hospital on our 13th day we found out that our princess Irelyn had Prader-Willi syndrome (PWS).It was at the top of the differential diagnosis of the team but she presented with only a couple of the symptoms. Her muscle tone dramatically improved in just 1 week, she would eat by mouth but would get worn out really really fast. This is why it took them so long to pinpoint what was going on.
Her initial FISH test was negative for this but her methylation came back positive. What this meant is that Irelyn had Uniparental disomy form of PWS.

Here is what that means:
Prader-Willi syndrome is caused by the loss of genes in a specific region of chromosome 15. People normally inherit one copy of this chromosome from each parent. Some genes are turned on (active) only on the copy that is inherited from a person's father (the paternal copy). This parent-specific gene activation is caused by a phenomenon called genomic imprinting. Prader-Willi syndrome occurs when the region of the paternal chromosome 15 containing these genes is missing. In other words Irelyn has 2 copies of seven genes of Wendy's 15th chromosome instead of 1 from me and 1 from her.

More info can be found here http://ghr.nlm.nih.gov/condition=praderwillisyndrome

As of 9/30 she still has her Mic key tube in place and gets 100% of her feedings from that every 3 hours. We are waiting to get the swallow study done before we try to feed her at home to make sure she does not aspirate, as that would set us way back in progress. We go 10-8 to the specialty care clinic so they can set up her feeding plan and see what else she is going to be needed. First steps has already come by and we are expecting to see them 2x a week for pt/ot treatment.
We are very fortunate that one of the best PWS doctors in the nation is in the Kansas City area at KU. I don't know how we got in so fast but we go to see him on 10-7. His name is Dr. Merlin Butler, he is the editor of what has been come to be called "The Prader-Willi Bible" Management of Prader-Willi Syndrome http://www.pwsausa.org/merchand/mgmtPWS.htm . This is the appointment we are most excited about!!