A new diagnosis

We saw the neurologist today. He had the results of the muscle biopsy. He did confirm that it is not a mitochondrial disease. Still good news! She does have a new diagnosis called congenital fiber-type disproportion. Click on link for extra details. Basically muscles are made up of 2 fiber types. Type 1 is fast twitch fibers and Type 2 is slow twitch. They do what one might think, the fast ones help with quick movements (i.e.. reaching out and grabbing something quickly) and the slow ones help with prolonged strength (i.e.. standing up for a prolonged period of time). Aggie has mostly quick Type 1 muscle fibers, hence the disproportion. So marathon running may not be a good activity for Aggie, but perhaps the 25 yard dash is still an option? :) The treatment is therapy, which we are doing. Also we will see yet another specialist, Cardiology. In less than 10% of patients with this disease the heart is affected. So it is necessary for us to get a "baseline" of Aggies heart and have someone follow her for that. The other person who she should be followed by for this new diagnosis is opthamology b/c eye weakness is common, but we already see them so we are good there. Glad to have a check in the box. Less than 10% of patients with this disease are from a genetic root. We will see the genetic Dr. in 6 months and see if this changes her course of action.

We also saw ENT this afternoon for a follow up on the ear tubes, they are doing fine.

So to recap on all our diagnosis:

Periventricular Leukomalisia- brain injury

Sensorineural hearing loss- moderate in both ears

Congenital fiber-type disproportion

Diagnosis are mostly helpful for insurance purposes, but also good for anticipating any future care that may need to be anticipated.

In the mean time we are looking forward to staying home for the holiday's and having a restful, yet fun time with our precious little family.