Here we are five and a half weeks into our time at NIH with Frazer in the study on COS. One-third of patients in study end up not having COS diagnosis. Frazer remains clinically "undiagonosed," not showing signs of psychosis. The doctor is extending his wash out phase -- the period without meds -- another two weeks because two and a half weeks into this wash-out they are noticing some odd behaviors.
There are some complications. What's new?
Genetically:
The team is testing for two specific genetic syndromes which may account for some of Frazer's behavior and other physical issues. Of course one of these syndromes has only 50 known cases in the world. Pretty "rare." However, at NIH, we have met people who are the only two known cases of a genetic syndrome. As Porter said after learning this, "I guess 51 is not a big deal." Results of these are about 4 plus weeks out. Should he have one of these specific syndromes which would include hallucinating and hearing voices, Frazer then would no longer be in the COS study long term. That does not mean NIH kicks us to curb without a solution. And finding meds could take 4-6 weeks. But, it means his condition does not fall under the psychiatric label even though some symptoms fall there.
Liver:
NIH likes blood. Blood draws are frequent and after several weeks of liver numbers being off, it was time to call in a pediatric hepatologist. She was great. Apparently one issue is that he has received his Hep B vaccine but his blood shows no titers for that. Of course of numbers can mean Hepatitis and a few other things. More blood draws, waiting for more tests. And now a call to immunology to figure out about titers.
Neurology:
A routine EEG showed electrical activity that is suggestive of Epileptiform Encephalpathies. He had a 24 video-monitored one, and they are still digesting that data. What this means is unclear at this point. It could account for certain things, be ancillary information or develop into something. Previous EEGs dating back to his infancy showed normal activity. The 24 hour one was done without meds on board and after two weeks of wash out. It is fair to assume he did not have meds interfering during EEG. Neurologist is also geneticist. She observed and found some of same neurologocial oddities as specialist at Mayo. Together, with other things, led to genetic testing. Neurology is not finished with him. He will have a 12 hour sleep study Friday night. He gets to move to the sleep hall, but one of his nurses travels with him.
GI
Well, the GI specialist is helping with some life-long challenges Frazer has had and we have not had any progress with since he was a toddler. She is retesting for celiac's and some other things as well. We hope to leave with a plan here too.
Psychiatry:
Frazer is not presenting with psychosis at this point. Voices and hallucinations are not being questioned. There is something called prodromal schizophrenia. Frazer may have this. Medication would be needed for that. It is similar but does not clinically meet COS. There is a study for that as well but should he have a genetic syndrome, the symptoms fall under that category.
He may have a psychiatric disorder the has elements of several different disorders making his diagnosis multidimensional not singular.
These area is gray and unclear, and treatment is still important.
Anti-seizure medicine can be anti-psychotic medicine.
The tangled web Frazer weaves. He is still happy on his hall. He still goes to school three hours a day (there are four kids in group and 1 teacher: 2 students). He loves having his kindle for an hour every night and has watched Frozen every day since he has been here. We visit daily and try to read with Porter for an hour but often they just watch a movie together. Playing games is difficult as many of his behaviors are unkind. He is definitely more aggressive with me and his main nurse. It is something.
William and I are grateful. He is getting thorough care and the folks who interact with him truly enjoy him. He has rec therapy, art therapy, pet therapy, exercise, and school. He picks his own food off menu -- pasta and mac and cheese every night. Not saying it is good but he wants it.
We are on the course until the train gets us off at a station in which he can move forward at home with a plan -- a five year and possibly a ten year one.
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