Son’s DRD diagnosis
Edited to say that my daughter has tested negative for the gene.
I have adult onset dopa responsive dystonia. My two younger children, both young adults, have received the same diagnosis. We are all slowly getting better on carbidopa/levodopa. My oldest son has the mildest symptoms, but then so did I once upon a time.
He has trunk tightness, equinovarus feet, and weak swallowing/cranial nerves on the left side. A regular neurologist wrote him a dopamine challenge and he has been responding beautifully. It also helps with long standing anxiety.
So he waits 8 months to see a movement specialist and she tells him he doesnt have DRD because his gait isnt involved (again mine wasnt either at his age i had his exact presentation). She said she wont write him for c/l and wants him to stop taking it for 6months to a year to see if his gait is affected and then she may reconsider. She said she didnt care if he had 3 direct relatives who have been diagnosed and that any improvement he felt was a placebo effect…
So she wants him to get worse before he can get a diagnosis and I so don’t want him to go through what I have and then try to get those movements back.
Does anyone have any advice? I’m so dumbfounded. We are getting a second opinion but am worried he will be blown off again.