Life Undiagnosed (Part 1)
Some syndromes don’t have a name….
My son was born thirteen years ago and spent the next three months in the NICU because he wasn’t eating or breathing well on his own. He had every test under the sun – myriad of genetic testing, EEG, MRI, muscle biopsy etc. When no answer was found, he was sent home on a g-tube and just a touch of oxygen with no diagnosis.
After six months he was strong enough to breathe on his own.
After two years he was strong enough to eat on his own.
He was followed by a number of specialists and has continued to undergo a variety of tests. More genetics. Swallow studies. EEGs which eventually lead to a diagnosis of Epilepsy. He has tonic, myoclonic, and absence seizure that remain uncontrolled after seven failed medications and two dietary treatments.
He has low muscle tone which effects all major body functions.
My son requires assistance at school and therapy outside of school. He needs help with every single activity that gets anyone through the day – eating, dressing, moving around, toileting.
He doesn’t speak and, because of his limited motor control, has a hard time accurately using technology for communication. For this reason, we don’t know much about what he thinks or how he feels, what he needs or wants.
Because he has gotten stronger over the years and continues to make progress, the specialists have ruled out many progressive diseases. This is, of course, good news for us.
Several times a year, I sit down with a case manager or special educator or medical intake person and answer questions about my son’s history and abilities and challenges. Every questionairre starts with this questions, “What is his diagnosis?” Each time I answer with this, “Undiagnosed developmental disabilities.” It either fits in the box or it doesn’t. It’s been translated most frequesntly as Cerebral Palsy, once as quadripelegia (don’t get me started on that one), often as multiple handicaps, once as Autism, and when I’m not looking as MR (which isn’t a real diagnosis anymore by the way……)
His syndrome doesn’t have a name but this is what it looks like.
If you have a superhero who has a syndrome without a name, check out SWAN on FaceBook.