Thursday, June 13, 2013

Valproic Acid raised but syndrome still a mystery

We visited the neurologist today. Two matters were on the agenda.
  1. What do the results of C.'s  latest blood test indicate re her dosage of Valproic Acid?
  2. What do the results of C.'s latest genetic tests - that just arrived yesterday - mean?
I was thrilled to hear that the first set of results allow us to raise C.'s dosage. While her current dose did reduce the number of seizures, the blood drug level is still very low: 54.51 UG/ml with 50 to 100 being the acceptable range.

Since the kidney functions and blood count weren't worrisome, the doctor suggested going up from 300 to 400 mg, twice a day. I certainly didn't need any convincing.

Once again, I'm high on optimism and praying for greater seizure control  - and even some improved functioning.

We were surprised when the neurologist conceded that she could not decipher the genetic results and recommended we consult the geneticist for clarification. While she reiterated that she's convinced C. has a genetic syndrome, she's doubtful that these tests reveal which. She said that further genetic testing would probably solve the mystery but would be expensive and is not covered by our Health Fund.

Will we ever score a diagnosis?

No comments: