Diagnosis: we have no idea
When we began this four months ago, there were two possible things the doctors suggested as causes for Lydia’s illness: Muscle-Eye-Brain Disease and Megalocornea Mental Retardation Syndrome (MMR). Only our first geneticist, Dr. Anadiotis, thought it might be Muscle-Eye-Brain. No one else seemed to agree and we ruled this out when her case was reviewed by a team at the NIH. (See previous post). Lydia’s first neurologist, Dr. Ji, suggested MMR based on her brother Jack having megalocornea. Some doctors, including Lydia and Jack’s eye doctor, rejected this theory, especially as Jack is otherwise completely healthy. And most recently Lydia has had an eye exam under general anesthesia in which they definitively ruled out the possibility of her having megalocornea at all.
So where does that leave us? With the insurance change we are now working with a new geneticist. He admitted he has no idea.
What about tests? Well the mystery deepens. Lydia had the Early Onset Encephalopathy genetic test and it came back with nada. No problems. So I thought I could check that one off the list. But yet somehow she DOES have encephalopathy, which, I am starting to understand, means a generally misfunctioning brain. Wiki says, “the hallmark of encephalopathy is an altered mental state.” Hm. So she IS a time-traveler. I worry about encephalopathy. Something I never thought I’d say in my lifetime. Her brain waves are disorganized. She can’t make sense of anything. I hope somehow patterns start to take shape in her brain. Even if it is just a day at a time and then she forgets. Like Drew Barrymore in ’50 First Dates.’ If anyone has ANY ideas on improving brain waves…send them my way.
She also had lots of metabolic tests which came out fine. Bloodwork and all that. Fine.
Then she had a chromosomal panel array. Something did come back on that. But what does it mean? No one has any idea. I’m not sure it has ever been seen before. It is an “interstitial duplication of chromosome 2q32.1”. There are cases of deletions on record, but not duplications. What does it mean????
And of course there’s the physical stuff, like nystagmus and the bad MRI. It just doesn’t add up to any disease in particular.
Really I don’t care what her diagnosis is. Our struggles will be the same. But it is one more thing that deflates me just a little. No term to rally against. No name for the monster. Just some really bad luck.