Mystery Diagnosis

As an Early Intervention Practitioner, I work with children with varying degrees of developmental delays. I have seen many children over the years, the vast majority of whom enter the Early Intervention Program with no diagnosis. As I write this article, I am remembering such a child. He in particular stands out in my memory. I will refer to him as Angel.

Angel was almost six-months old when I first met him. The youngest of four children. A beautiful baby boy with thick, curly black hair and a wide, catching smile. Something was not quite right, though, and his mother especially knew it. He looked completely healthy and full of life, but little things were not as they should have been. He still was not sleeping through the night, snored loudly, twitched in his sleep, would not attempt to hold his bottle, was not making any sounds, had poor eye contact, was not rolling or bearing weight on his arms, and showed little interest in toys.

Over the course of two years, Angel was seen by more than ten different specialists. Doctors’ opinions would often conflict. Results were frequently inconclusive. Blood work was lost. Although it was obvious that he was having seizures, it took several late night trips to the hospital and calls to 911 before any doctor would diagnose him with a seizure disorder and prescribe medication. In the meantime, he was not speaking and preferred to crawl rather than walk. He had difficulty managing solid foods and would often tire out so much from the mere action of chewing that he would fall asleep with food in his mouth. This was particularly alarming.

One day, I arrived at the family’s home and Mom greeted me at the door. Her son was about two-years old at the time . “I know what he has,” she said. “He has Angelman Syndrome. I saw it on Mystery Diagnosis.” Mom was sure of it and was determined to bring it up with her son’s doctors.
I had never heard of Angelman Syndrome before, so when I got home I looked it up. Sure enough, Angel seemed to be presenting with all of the symptoms. Seizures. Sleep disorder. Feeding problems. Motor delays. Speech impairment. Could his mother be correct? It seemed unlikely that this child’s mother, whose native language was not even English, could correctly diagnose Angel’s condition when none of her son’s doctors could. Or so I thought.

It would be over two years before Angel received the diagnosis of Angelman Syndrome, a genetic disorder first delineated by physician Harry Angelman in 1965. Angelman Syndrome results from absence of a functional copy of the UBE3A gene inherited from the mother. It is characterized by sleep disorders, feeding problems, small head size, movement and balance disorders, speech impairment and seizures. There is currently no cure.

I have not seen Angel in quite some time, but I think about him often.