Saturday, March 26, 2011

Big News for Noah

Prepare yourself, this is a long post…..


We know that it has been almost sinfully long since we’ve updated the blog. It’s really my fault, since I’m at home all day with Noah while Scott goes to school and works. But we’ve just been busy with a lot of things, that it kind of gets stuck at the bottom of our to-do list.


However, there have been some things going on with Noah that we feel need to be shared. I promise to put together an update on our entire family, soon, but this is more important.


As most of our family and friends know, we’ve had a lot of struggles with and concerns for Noah’s development, starting from birth. We struggled through a year and a half of not knowing or being taken seriously. Last November, I finally took some initiative and got in touch with the Infant Toddler Program (and it wasn’t easy, believe you me). It’s Idaho’s early intervention program. They have been simply wonderful – an answer to prayer. They came and did a full developmental assessment of him in November, and since then, things have been in full swing.


We have been working with a developmental specialist a few times a month, and she has helped us get in touch with a physical therapist that we’ve seen a few times. He will also soon be seeing an occupational therapist (other than the one at the hospital that we’ve been seeing since day 1) for an assessment of his oral motor skills, and hopefully, a speech therapist will be introduced soon, as well.


He’s been a part of the toddler-lab here at BYU-Idaho during this winter semester, which has been awesome. Not only do we get the break twice a week (a much-needed one), but he absolutely loves the interaction with the other toddlers, as there aren’t many kids his age in our ward or complex. They work closely with the Infant Toddler program, so they are great in helping him with his developmental delays, as well. And, we’re pretty sure that he will be able to participate again during this next spring semester.


Our service-coordinator helped us to arrange a couple different visits down at Primary Children’s Hospital in SLC to get some medical information flowing. First, we went to see an opthamologist for his crossed eyes. We took him to an optometrist here in Rexburg last year, and they put him in glasses, but there hadn’t been any improvements after six months. At Primary they got him the correct prescription, and it has worked wonders! Everyone at the toddler-lab immediately noticed huge differences in his focus and ability to participate. We still have a ways to go, but it has been great. We’ll be going down there again in May to check his progress.


Second, we went to see the pediatric neurologist at Primary. He was/is a wonderful doctor. That’s a rare occurrence, I’ve come to realize. He did an assessment of his developmental delays, and asked us a whole bunch of questions. Long story short, he asked us to have an MRI done, as well as two blood test for some more specific problems. The MRI is scheduled for May, after his opthomology appointment. The blood was taken about a week and half ago, and on Friday, we got the results.


Noah tested positive for Prader-Willi Syndrome (pronounced “praw-der willy”). Some of the people that we’ve talked to already knew what it was, but I had no idea what it was. It’s a rare genetic disorder that affects about 1 in 15,000 births, resulting from the deletion of certain genes from chromosome 15. There is a lot to it, and it’s a very life-altering syndrome, both for Noah and for us. The most severe problem is hyperphagia (compulsive hunger). The condition causes problems with the hypothalamus, where they cannot tell that they are full, and are obsessed with food and eating. It’s a serious cause of morbid childhood obesity. It’s not very commonly known within the medical field, as far as I can tell, which would explain why our doctors never thought to test for it, or took our concerns seriously. Reading about it is like reading about Noah – he has so many of the characteristics (for his age), it’s almost surreal how obvious it is. I asked our neurologist about the accuracy of the test, but he said that it’s at least 99% accurate. Sometimes they will do additional testing, but it’s usually not necessary – the symptoms speak for themselves and support the test result completely.


If you’d like to check out more about it, this is a really great site: http://www.pwsausa.org/ They have SO much information about it, in just the little that I’ve looked at so far. Go to the Be Informed tab, and check out the links at the bottom. There is a lot more to it that the very little that I have explained, especially when it comes to the future. Even the Wikipedia site is great, and gives a good rundown on the syndrome.


It looks like we have a very long road ahead. I don’t want to get too discouraged by it, because only time will tell how severely he will be affected, and we have been extremely blessed to be finding this out now, and not in two years, or ten. There is no cure, but there are interventions that can help us to keep it in check. The main one is administration of growth hormone, to help him gain muscle mass, which will help with his metabolism and his ability to grow (height). Otherwise, it will mostly be hard work on our part to condition ourselves in strict patterns of exercise, healthy eating, portion control, routines, etc., so that we are ready for his future problems with eating, which are almost guaranteed to come.


For now, things are going great. The hyperphagia hasn’t hit yet, so we have some time to research and prepare. It usually hits around 2-3 years old, from what we’ve read. He is still the most lovable, sweet, kind, and smiley little boy in the world. He is walking all over the place, close to running, signing a lot, and improving every day. If anything, Scott and I agree that our love for him has increased dramatically with this knowledge. We are so blessed to have been entrusted with his care, and while the road ahead will be a difficult one, it will also be a joyful one. We love you, Noah!

9 comments:

Robin said...

Love you and that sweet boy. What a blessing to have found this out at this stage. You and your family are so amazing! He couldn't ask for a better mother!!

Brian and Kayla said...

Noah is so lucky to have come to you and Scott. You are both such amazing people. Thank you for sharing this about him and we'll keep your family in our thoughts and prayers as you continue to diagnose any problems. He is so cute and lovable and perfect. Love you guys!

The Dennett's said...

little Noah will be in our prayers. he is so blessed to have you two for parents. keep us updated on anything new! love you all,
Jonathan & Lindsey

Kristi said...

You are amazing parents and are lucky to have him. He is such a sweet little boy. My kids wants him to come and play and asks about him all the time. Remember he is luck to have such loving caring parents, keep in touch if you need anything let us know.
Love,
Brent and Kristi

Brian and Kayla said...

I just can't seem to get you guys off my mind. I had time to research the syndrome a little more today. It is probably so nice when people you are close to are somewhat educated about what Noah is dealing with. I was also happy to find how many people that have PWS live great lives and overcome a lot of obstacles. I'm sure you will be working with Noah to give him the best future. He is in such good hands. I also thought the breech thing was interesting...I can see how all of the symptoms matched up for you. Noah is seriously the cutest kid and will grow to be an amazing person. What a true gift he is.

The Watcher said...

Wow, that is huge news. I work for a company that runs group homes for people with disabilities, mostly autism. But for a year in a half I worked with one guy who had PWS, and he's still a really good friend. If you want to give me a call, feel free, I haven't talked with you guys in forever :)

Wendy said...

Way to be proactive and trust your gut. What a blessing to find out early on. Thanks for the link to the website. David and I were talking about how you guys will do great, but how overwhelming everything would be. We'll be thinking about ya and praying things go well. And Noah is adorable! Take care.

The Schaefers said...

Jenny,
I am sure you must be overwhelmed by this news. Noah seems so dang cute from your pictures. It is wonderful that you have a name for Noah's symptons...it is easier to help when you know what is wrong! My advice is learn all you can and educate others: Knowledge is power. Also, go out for date night frequently. Having a child with special needs can really take a toll on a marriage. Elder Bednar's "In The Strength Of The Lord" is the best.

Halsey said...

Wow. There is a couple in our ward with a daughter missing part of chromosome number 14. It's amazing how they are all happy and positive about all the progress she makes. Noah is lucky to have you for his parents!