The story of Juan-Diego
My son my warrior is now 13 years old and was born with a genetic rare disorder. A skin biopsy was performed when he was five years old and his diagnoses was given-adducted thumbs club foot syndrome.
His syndrome is accompanied by many symptoms – joint instability, hyper sensitivity to touch, low muscle tone, stomach, and coagulapathy-which cause frequent and very painful soft tissue bleeds either caused by trauma or spontaneously. His blood not clotting properly is one of the main reasons he has had so many hospitalizations, including several a surgeries.Â
Juan Diego is not missing any factors and his platelet count is normal and they work fine. Genetic testing determined he is missing or not producing a chemical called dermatan sulfate. We were told he is the only kid in America with this condition. Other kids found-approximately 50 are located in Austria , Asia, Japan, and Philippines.
Since Juan Diego is the only kid in the nation with this rare disorder every time we go to hospital or get seen by doctors we get this confused look and comments like “…you have what?”.
We are very lucky to be living near hospital with great physicians. He gets treated as if he had hemophilia even though it is not what he has. His doctors fight for him and say they cannot leave him untreated and with pain, even though there is no research or findings for a cure or treatment.
Juan Diego is sweet and kind and loves his three older sisters. And specially be surrounded by other kids his age to play video games and joke around. He cannot participate in any sport, ride a bike, or even run fast as there is a high chance of getting hurt. A simple fall sends him to hospital. And simple hit with a ball sends him to hospital with soft tissue bleeds.
Juan Diego and us always hope and pray for research and a cure. Not only for him, but for the other 50 kids that are also suffering the same physical pain.
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