My father (65yr old male) was diagnosed with KD approx 7 years ago. Unfortunately, around the same time, he experienced a bad fall (he was living alone and had issues with alcohol and a bad knee and hip that he had surgically repaired so we are still not sure to this day how the fall occurred or what the direct cause of it was). The fall caused bleeding in the brain which required significant surgery. Looking back, not knowing he had KD and undergoing major surgeries can have implications. Fast forward to today, he still struggles to get up out of low seats and needs a walker for short distances and requests wheelchairs for longer journeys. Rehab from the brain surgery led him to an assisted living facility in which he now stays. As his son, it is hard to know what/how to help. I think he believes that there isn't much you can do and that it is about being comfortable. He definitely weak in the extremities and has real problems with balance. I also notice shaking in the hands and facial weakness. We saw a doctor familiar with KD in 2015 but it is a 3.5 hour drive. I have recently schedule an appt with a more local dr (nuerologist) that has agreed to see him. I am hoping that this leads us to a more firm plan of action moving forward. As an anxious person myself, I cannot help but worry about my dad and want to help him in any way that I can. Most recently I am most concerned about some phlegm that he says he deals with. His cough, I've noticed, is really weak. He says he is not experiencing any problems breathing, but its hard for him to get that stuff out of his throat, especially at night sometimes. Is this common? Should I be worried about his breathing? When I think about muscle weakness, is this affecting the muscles that he uses to breath or are the respiratory problems associated with KD as a result of the muscles that deal with swallowing, eating, danger of pneumonia, etc? I feel like I am trying to play catch up with information regarding KD and feel immense responsibility to find answers. I feel blessed to have found this community. I hope there is someone out there that can relate! Look forward to interacting you all. Blessings
Location: San Luis Obispo CA
You are helping your Dad a lot with your investigation and concern.
His case pretty much lines up with most of us (I assume.) If his diagnoses did not include a genetic test for SBMA get that in his file - any doc can order the test.
Since there is yet a treatment for SBMA getting "comfortable" with the symptoms is about all you can do. As with similar neuromuscular disorders which symptoms appear first is related to the individual. Some have serious bulbar (swallowing) symptoms as their first concerns, others mobility. When you browse around the posts here you will see the spectrum we are faced with and how we are dealing with them. As the years progress he will most likely experience most of them.
There is a thread on the phlegm issued. Myself I experience episodes and use Mucinex to thin things out for a while.
Neurologist - look for one with clients with degenerative neuromuscular diseases. They kind of perform the role of a case manager. They can make good referrals to the doctors he needs to get comfortable with his symptoms. If he has very good insurance he will be bombarded with tests. For example, swallowing tests that really don't make much of a difference as to how to deal with the symptom - we already know we have bulbar weakness. Many of us experience GERD but you don't need a barium swallowing test to find that out. He can also expect laryngeal spasms - they'll scare the crap out of you when he has one as it appears he is choking. If he is making loud/rude noise when inhaling he isn't choking. All he can do is try to relax and let it pass. Search for it on the internet. Your neurologist can provide referrals to the proper specialists on this, and other symptoms.
IMPORTANT: get ALL symptoms down in a doctor's notes somewhere. This includes ALL the mobility issues you mentioned. Eventually, he may need some expense DME and case notes are critical if you want insurance to cover it. Get the symptoms down on paper even if you don't expect the doctor you are seeing to be able to do anything about them.
If he is a veteran register with your local VA service officer - usually a county-level office. Contact the Paralyzed Vets of American (PVA.org) for help with benefits. Tell them the case is similar to ALS symptoms, but not ALS.
Browse the posts here for more information. Post back with any more questions. Keep up the good work supporting your Dad!
email:rheitzman at gmail
Kennedy's Disease Association
PO Box 1105 Coarsegold CA 93614