Well my general neurologist referred me to a Muscular Dystrophy specialist because he said he'd reached the limits of his experience.
This is after 3 rounds of bloodwork and an Athena test.
So I saw this new guy today. I think he was 18 years old or something. I had to re-tell my story for the millionth time. He made me feel kinda stupid. Maybe I put him off because I'd done so much research.
The previous bloodwork came back with with elevated CPK (yet another symptom off the list). My Lactic Acid was through the roof and they didn't know why. Anyway, the new round of bloodwork is to retest this and he ordered a new Athena test specifically for KD.
This is the frustrating part:
Here is a list of my symptoms and he said that he thought a lot of them may be just co-incidental.
Precipitous muscle weakness
Difficulty holding some objects without shaking
Difficulty swallowing and aspiration (frequent pneumonia)
Gynecomastia (removed when I was 16)
Infertility (we adopted after years of horrible treatments -- diagnosis was unexplained infertility)
Thick Calves -- even though I'm an athlete, I never work my legs.
Lower Motor Neuropathy
I think if these were in isolation they'd be co-incidental.
Ah, I'm just venting. I'll feel really stupid if the KD gene test comes back negative. Then I get to have a muscle biopsy. He seemed obsessed with my family history, especially if I was French Canadian. I said not that I know of, and I'm really not in touch with a lot of my mom's family. Just because it hasn't shown up in anyone yet doesn't mean I didn't get the lucky card. I think I had one uncle who had symptoms, but they called him lazy and a bunch of other things.
Steve, thanks for taking the time to vent. Sometimes you just need to let it all come out. Many of us went through the same process and several of us were misdiagnosed initially. Educating the uneduated is part of the process also. Fortunately, there are resources available today to help us layman learn more about the disease and to help educate others.
The DNA blood test for KD is the one test you need to conclusively state whether you have it or not. Let us know what the results are.
I guess I felt belittled -- that I was wasting his time or something. That was the most irritating part, the feeling of being marginalized.
Kennedy's Disease Association
PO Box 1105 Coarsegold CA 93614