Amy and Friends - Cockayne Syndrome Support Amy and Friends - Cockayne Syndrome Support
























Bertie Butterfly is kindly sponsored by Holly Lodge School for Girls, Liverpool.

 

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  Jack lives in California with his mom, dad, and big sister. He is an incredibly happy, social boy with an infectious smile. Jack enjoys bath time and being cuddled. He loves music and being around other children. Jack is the bravest and strongest 4 year old we know. He endures so much and still remains the sweet, affectionate guy we all love. Jack is our superhero!

Jack was born full term without complication. Once home, Jack had difficulty gaining weight. Despite Jack's small size, he met milestones like rolling over and smiling. At 5 months old, Jack was not making eye contact.
Unfortunately, we discovered Jack had bilateral congenital cataracts. We immediately had the cataracts removed and Jack started wearing contact lenses or glasses.
This is where the onslaught of pediatric specialist appointments began. To get the ball rolling, Jack saw ophthalmologists, optometrists, a geneticist, and an infectious disease doctor. No one had answers and all tests came back normal. For a short while, we were hopeful this would only be a vision issue.
Time passed and Jack fell farther and farther behind his peers. He was nowhere near being on the growth chart and had yet to sit up or crawl. By age 1, Jack was receiving OT, PT, and vision therapy. His medical chart included the following diagnoses/symptoms:microcephaly, global developmental delays, single palmar crease, legally blind, congenital bilateral cataracts, nystagmus, hypotonia, failure to thrive, and short stature. At 18 months, Jack began having seizures and body tremors. By age 2, Jack had a g-tube, liver disease, and extreme photosensitivity. As Jack's list of specialists grew to include neurologist, hepatologist, GI, and metabolic doctor, we were no closer to an all encompassing diagnosis. Doctors routinely stated that Jack was unlike any patient they had ever encountered. He was a medical mystery who managed to stump every single doctor in his path. We often heard that Jack may never be diagnosed. This was unacceptable to us. We pushed, asked questions, and relentlessly researched.

To gather more information, a brain MRI was completed just before Jack's 4th birthday. The MRI came back with abnormal results showing severe, progressive cerebral atrophy. The MRI findings coupled with Jack's already established symptoms led to his CS diagnosis. The journey toward a diagnosis was agonizingly long, but we are happy to finally have answers and a better understanding of Jack.

   
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Copyright© 2011 Amy and Friends - Cockayne Syndrome UK Charity Number: 1119746