I just got another email from the geneticist. The last of the tests they did in June came back and she is negative for everything they've tested for.... Angelman Syndrome, Glucose Transporter issues in the brain, Hypoglycemia, Disorders of Creatine metabolism, Non Ketotic Hyperglycinemia, Organic acidurias, Peroxisomal disorders, Sulphite oxidase deficiency, Congenital disorders of glycosylation, serotonin and catecholamine metabolism and Mitochondrial disorders. Much of it normal people can't even pronounce.
The last thing I think they'd want to check is the SCN1A gene. SCN1A-related seizure disorders encompass a spectrum that ranges from simple febrile seizures and generalized epilepsy with febrile seizures plus at the mild end to Dravet syndrome and intractable
childhood epilepsy with generalized tonic-clonic seizures.
I'm not sure how likely this one is. The neurologist would have tested for it I think if he thought she had Dravet syndrome and one of the most common things is Febrile seizures. She's never had an increase in seizures when she's sick and her seizure counts are actually better.
Plus she's better on lower doses of meds. So we still have a lot to discuss with the doctors but they still have NO answers. Just a lot of negative test results. That's good because everything they look for is really bad and no real "cures" but just annoying that there are still no answers.
So for today Cailyn is still a very unique little girl.
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