I am currently a 22 year old male. It certainly doesn't help having massive health anxiety, but I have become concerned about the idea of potentially having this disease.
It has been roughly 4 years since the onset of symptoms, which began with muscle spasms all over my body. I attributed it to anxiety at the time, but having had 4 years gone by... and the continuation of symptoms I am seeking answers.
Hand tremors - Hands shake all the time
Spasms - Painless body spasms all over(primarily my calves and face/neck.. though it seems like certain days the spasms will relocate and I'll feel them more in my back, arms, etc.. seems to be random.
Atrophy - Along with twitching, this seemed to be my most pronounced symptom. My right tricep and inside forearm have atrophied immensely, although I've retained a level of strength to where I can do all that's asked of me( working with tools, fine motor skills seem off though.) The atrophy is asymmetrical, and on my non-dominant side.
I do have bulging disks in my back, and I'm unsure if that/ previous traumas could be contributing to what I've been experiencing.
I've gone to the Mayo Clinic to see a rare disease specialist, along with several other neuros and regular MDs. CAT Scan, EMG, EKG, and auto-immune tests all came back as negatives. I recently got a blood test and my CK levels were normal as well.
After seeing my GD, he did not even refer me to neurology, which is frustrating as this has plagued me for a long time. Is this just my anxiety? Or is there something more insidious going on?
If so, whats the prognosis like for a young adult like me? Hoping to make the most out of my life.
I can do the same amount of push-ups that I could 4 years ago, so that's positive. Although I definitely feel like my muscles are more sore after.
I naturally have horrible posture, and am starting to feel stiffness in my neck. This feeling of overall "weirdness" is hard to place solely on anxiety or a potential back injury.. when its not my back that hurts but seemingly everywhere else is agitated.
Hope this is enough to get some feedback. Seems like its either this or ALS.. and after going through many doctors i feel as if the medical system has just let me fall through the cracks.
Location: Chicago, IL
Hi Evan, it's fairly easy to diagnose Kennedy's with a very high degree of certainty with genetic testing. It might be difficult though to get a doctor's order and insurance coverage for the test without strong indications that KD is likely as it is a rare disease estimated at something like 1 in 40,000. If you have any relatives diagnosed with Kennedy's disease consistent with the X chromosome inheritance pattern that should be sufficient reason to get tested. Having any signs of androgen insensitivity such as gynecomastia could also be compelling. Your symptoms as described sound like it could be KD but also like it could be many other things too. Having a normal CK & EMG suggests it isn't KD but it wouldn't rule it out either, especially at 22.
The other question to ask is would knowing make any difference for you? There currently is no approved treatment for KD. The things I'm doing to manage my KD are targeted towards maximizing health, fitness and performance and would be roughly the same if I had most any other disease of muscles or nerves.
I understand your feeling of falling through the cracks of our medical system. Sadly there are still many conditions which are poorly diagnosed and many for which there is little to no help after diagnosis. It is good you are taking an active role in trying to find answers for your health issues.
Location: San Luis Obispo CA
Some of your symptoms are consistent with KD, but asymmetrical muscular atrophy at 22 is not (as far as I know.)
I suggest you attack your "massive health anxiety" first. No matter what your underlying condition is you need to (IMO) find a productive way to reach a diagnosis. Changing your point of view can make a huge difference, turn it into a positive.
I'd look for a champion that can guide you through the process. Doing a diagnosis search on your own would probably be the least productive way to go. If you live in an area that is served by one of the big/famous HMOs like Kaiser, Mayo, or Clevland go for it. Or go with a large carrier that makes case managers available for difficult cases, then take full advantage of that service. If you don't have a choice of carrier look for the case manager feature with the policy you have.
It would also be useful to have a primary doctor consistent through time. Look into concierge doctors in your area. I pay under $2,000 a year for one and it is a fantastic deal IMO. My doctor is a member of https://www.choice.md/ and they have a doc finder feature. I'm sure a search will bring up other similar concierge doc finders. Note you still need good insurance, the concierge fee only buys the attention of the doctor.
Relax, good luck!
email:rheitzman at gmail
Kennedy's Disease Association
PO Box 1105 Coarsegold CA 93614