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1 Year Post Diagnosis

It’s crazy to believe that it has already been 1 year since Noah’s diagnosis of Mucopolysaccharidosis II, AKA Hunter Syndrome. It felt like it was just yesterday when we heard the gut wrenching news that our son has a horrific disease which would slowly rob him from his life. Since then, it has been an emotional rollercoaster with several life changing events: going through the depression of new diagnosis, being in the middle of a major career change, preparing ourselves for our new baby girl Penelope, selling our home to start a new life 400 miles away, finding new jobs, finding the right doctors for Noah, and getting him started with preschool. It was a lot to take in, but we couldn’t have done it without the immense support from our family and friends. If you are reading this, you really do care about Noah and we are truly blessed to have you in our lives.

After 4 surgeries, 47 5-hr infusions, 2 sleep studies, and countless doctor visits totalling over 300 hours in the hospital, he is continuing his fight at just 3 years old! That is more time than most of us have ever spent in the hospital in our lifetime.

Noah today (3 yrs and 2 months old):

Noah has speech delay but he is continuing to learn. His vocabulary is about 100 words now and can count to 10. He knows all the basic colors and can also recite the entire alphabet. He will follow along singing nursery rhymes and he loves playing with trains, toy cars, and animal figures. Potty training has been difficult, but we have not completely given up after 6 weeks of training. He won’t tell us if he needs to go, but would go on his own only if bare bottom and has the potty by his side.

His joints are noticeably stiff. He still cannot raise his arms completely vertical, although he enjoys swinging on the bars. His fingers are starting to curl more making it difficult to fully extend his fingers. His ankles are very stiff barely reaching 90 degrees and his knees do not fully extend. This makes running more difficult and causes him to fall often, especially on uneven surfaces.

Noah loves the outdoors, getting dirty, playing in the park, seeing dogs, riding his strider bike, kicking the ball around, and splashing in the pool. His favorite food is cheese and crackers, favorite movie is Moana, and favorite color is purple.

He loves his baby sister dearly. Not even exaggerating, although he cannot control his own strength, he wants to hug and kiss her every chance he can. He is also very protective on who holds her.

The days have been crazy at times juggling between work, raising Noah, caring for baby Penelope, taking Noah to preschool, OT, PT, Speech Therapy, ERT, and specialist appointments while advocating for Noah’s potential cure, but we have to remind ourselves to also enjoy the life we have and somehow find time for ourselves.

We pray that Noah continues to thrive and learn new things every day, but it is terrifying to know that Noah may soon plateau and begin to regress. Statistically, boys with Hunter Syndrome begin to lose skills by their 4th birthday. We cannot imagine this to happen to our Noah. We need the cure now. Researchers believe they have found the answer, but the biggest obstacle in making it a reality is funding. We won’t stop fighting until we can somehow raise the $2.5 million that they need for the clinical trial.

Sometimes we feel like we ask for too much, but we hope you continue to be part of Noah’s journey. It is typical to lose some friends along the way because of the “negative” impact it is on their life, but we will try to continue to share the positive aspects of Noah’s life to encourage our long lasting friendships. We don’t want to be downers. There is so much hope for Noah! Thank you for continuous support and being part of Noah’s fight. God bless.

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