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Feb. 4, 2020

TOPIC: Patient Stories, Patients & Members, Rare Disease Day

Wyatt’s Story in Honor of Rare Disease Day

Posted by Valaree DonFrancesco

This story is about our son, Wyatt, who was diagnosed with Coats plus syndrome at the age of ten. The story starts with my pregnancy. At 26 weeks, during a normal pregnancy, I suddenly felt the baby stop moving. Fearing I had lost my baby, we rushed to the hospital. After an ultrasound, we were told that he was probably not going to survive. His brain was abnormal, he had not been growing, and he was not moving like he should. We never lost faith, and I knew he would be okay. When I gave birth to a three month premature baby boy who survived, my husband and I knew we had a miracle baby given to us. Not knowing the real cause of his prematurity, he was closely watched by therapists and his pediatrician. Besides being diagnosed with ROP, he seemed to be a healthy boy with some developmental delay. He continued to grow and thrive for the first several years of his life, but then we got the diagnosis of mild CP, followed by a diagnosis of a seizure disorder, both common with prematurity.

As Wyatt got older, he didn’t grow much, but we continued to believe prematurity was the cause and that he would eventually catch up. As a parent, you don’t see day to day the changes your child is slowly making. We didn’t see that his movements were getting increasingly difficult for him. We didn’t notice that it was getting harder for him to speak. I still remember the pediatrician telling us that Wyatt would probably never be able to live on his own. And I still remember not believing him. Around the age of five, Wyatt fell down our stairs and received a concussion. At the emergency room, they did a CT scan and the doctor was perplexed by the image he saw. Wyatt had calcifications throughout his brain. The neurologist we were seeing for his seizures looked at the images and didn’t have an explanation, other than the prematurity. Another possibility was that I had contracted a virus when I was pregnant. Eventually, we decided to see the pediatric neurologists at St. Louis Children’s Hospital. For several years, we went through MRI’s and exams, not getting any answers. Then one particular neurologist suggested genetic testing. Nothing showed up in the test. She was still not convinced, so we did a more in-depth genetic test, and then we got our answer. Wyatt had CRMCC (Coats Plus Syndrome). He had just turned ten years old. Coincidentally, he fractured his leg right before this diagnosis. We thought it was odd, because it was a spiral fracture to his leg from tripping on a rock. Nonetheless, we thought nothing of it. Then when the diagnosis came, so did more breaks. A horrible side effect of this genetic syndrome: fragile bones. He ended up having around eleven fractures to his tibia and fibula within a two year time span. At this point, we were seeing a bone specialist at Shriner’s in St. Louis. After Wyatt’s two year battle of trying to heal his right leg, we decided it was time to stop putting him through the pain of casts and surgeries, so his lower leg was amputated.

In addition to the brittle bones, in the past two years, Wyatt has had a significant decline in his ability to speak. He is extremely intelligent and knows exactly what is going on around him, but can’t get out the words that he wants to say. It is extremely hard to know what the future holds because of the rarity of this condition. Other complications that we keep an eye on are gastrointestinal bleeding, portal hypertension, and liver failure. There is just so little information that doctors do not really have answers for us.

We wanted to share this story because I want anyone else out there with a child who has this to know they aren’t alone. We also want to share our son. What we want the world to know is that he is a child, not defined by his syndrome, but defined by the person he has become and is. He loves country music. He loves to sing and strum his guitar. He used to love to dance, and now just stomps his foot to the music. He loves his family, he loves to laugh. He loves roller coasters and thrills. He is a 14-year old with the mind of a five year-old who gets scared, but believes in miracles. He has forever changed the life of my husband and I. He has made us better people. He has made his older brother and younger sister better people as well. They take nothing for granted. I wish everyone had the chance to get to know our son. He is special in so many ways. Everyone who meets him is inspired by his strength and love of life despite all of his challenges. We love him more than words can say and always will. Please watch Wyatt’s YouTube video to learn more!