sMiles 4 Sammy

Saturday morning we loaded up the whole family and headed to a high school just down the road to join in the sMiles 4 Sammy Family Fun Run.

 Let me just preface this post with a few things.... Noah is not an easy kid to take anywhere. Noah usually does not like to go anywhere. He spends a lot of time at home which makes me sad that he "misses" a lot of fun things but I know that he would not really, truly be having fun anyway. He likes to be at home where things, people, sounds, and smells are familiar. He has terrible anxiety which manifests itself as gagging, retching, and vomiting.

That being said, we were very prepared for the worst. We put extra blankets in the car because the car is his favorite place to throw up. We didn't give him his morning feeding so that his belly wouldn't be too full in case he did throw up. We were anticipating it and ready!

I am so proud to announce that Noah DID NOT throw up at all! He did awesome in the car and listened to his music. And he absolutely loved all the noise and excitement at the race. There was a DJ playing really loud music with lots of bass which Noah got a kick out of. Even though we were late for the actual race and it was really hot (and Mommy forgot sunscreen, shame shame) we walked as a family around the track and Noah was smiling and laughing the whole time.

They had a table set up with pictures and stories of all of the sMiles 4 Sammy Families. Here is the story that I wrote to go with this lovely picture.

This is the story of a little boy that we call a Miracle. Noah Jack was born four weeks premature on July 11^th, 2012. He was in respiratory distress and immediately taken to the NICU where he would stay for the next eight weeks. During that time it was determined that he needed a tracheostomy to breathe and a g-tube to eat. Then we were sent home with 24/7 nursing care and referrals to therapy services.

At first we thought his delays stemmed from a combination of being premature, going through multiple procedures and surgeries, and staying in the NICU with minimal stimulation. He continued to receive physical, speech, and occupational therapies but by six months of age it was apparent that he was very, very behind developmentally.

We took Noah back to his neurologist that did his initial brain MRI when he was in the NICU. The doctor ordered another MRI and some genetic blood work. The genetic testing came back negative for everything but the MRI showed something very interesting. It revealed that Noah had an abnormal amount of white matter, or myelin, in his brain.

Myelin is a fatty substance that coats the nerves in the brain. Without it, it is very much like an electrical wire without proper insulation. The messages to and from the brain sometimes “leak out” and don’t reach their proper destination. This affects everything from his head control and vision all the way to his vocal cord muscles, which is why he needs the trach to breathe. This lack of myelin fits under the umbrella of a group of diseases called Leukodystrophy, and the specific one indicated by the radiologist is called Pelizaeus-Merzbacher Disease (PMD).

This diagnosis needed to be confirmed with a very specific (read: “expensive”) type of genetic blood test. The results came back that Noah has a point mutation on the PLP1 gene which is associated with PMD. But because Noah’s specific mutation is the only one reported in the whole entire world they can only be 99% sure that he does in fact have PMD.

After his final diagnosis we felt a mix of emotions. We felt relieved to know finally after 10 months of being in the dark. We felt hopeful that now we would know how to better help him once we understood. We felt sad that this was not something he would “grow out of” as he will most likely need his trach and g-tube for his whole life. We felt scared to see what the future holds for Noah and how hard this disease has and will affect his body.

Noah is now 22 months old and as we approach his 2^nd birthday we are so grateful that he is still here with us and staying healthy. He works hard every day to do things that everyone else in the world takes for granted. He is learning to roll on the floor as well as play with some toys and his iPad. Last week he started splashing in the bath tub. These are all things, along with many others, that doctors will tell you that children with PMD cannot or will not be able to do. But Noah is here showing everyone the things he CAN do and that is our Miracle.

I  also got to see a family that I met over a year ago at the Dell Children's NICU when I went to meet with them before their baby had a trach surgery. They are also a part of the sMiles 4 Sammy Family. And here is a picture of Noah with Sherlynn Scott who is Sammy's mom and founder of sMiles 4 Sammy.

We had a great time as a family and it definitely opened my eyes to the possibility of being able to take Noah more places because he did so great!