Dear All - Firstly, thank you for the website/open discussion forum. My 63 yo sister was recently diagnosed with KD. Because she has only one X chromosome, she has the phenotype of KD with progressive neuromuscular decline. She is also living with our 94 year old mother. I was wondering if anyone can comment on progression of muscular weakness. My sister has declined noticeably over the past year (can no longer walk without assistance, can not go up or down stairs or even slight inclines with a walker). Within the last 6 months, she has significant decline in arm/hand strength (e.g., dropping things, can not open windows, etc.). I help out by cleaning, cooking, laundry, etc., etc.), but wanted to know if this rate of progression is consistent with what other KD patients have experienced so I can make sure I plan/get appropriate help in place. Thank you again for your kindness and advice.
Location: San Luis Obispo CA
Your sister's progression is much faster than my experience with SBMA.
I wouldn't let up on finding another explanation for her condition.
My impressions from experience:
The only anecdotally effective treatment (slight reversal and slower progression) for SBMA is the drug Avodart. Clinical testing has not confirmed, nor denied Avodart's effectiveness. Speculation is that Avodart works by reducing levels of the male hormone DHT (Dihydrotestosterone.) It has worked for me - twice.
BTW Avodart includes a warning on the insert that women should not touch the pills.
It might be a good idea to do a blood test for DHT level.
email:rheitzman at gmail
Thank you. She had genetic testing and her neurologist told her she has KD (she also has Turner's syndrome, which is why she is having KD phenotype even though she is female. Based upon everything I have read, her progression is not consistent with KD....I am hoping she doesn't have ALS on top of everything else. Thank you again for your response.
Location: Chicago, IL
Lily, the rate of progression in KD is quite variable. For males it's weakly correlated with the length of the expanded CAG repeat in the gene. Turner Syndrome often results in lowered androgen levels and women usually have 10% of the testosterone of men which is thought to be a very protective factor for women. It's rare but some women develop strong symptoms of KD and recent research suggests all females are affected by KD but only in subtle ways. Having only one X chromosome undoubtedly makes it worse and makes her case very interesting. If she received androgen replacement therapy for Turner's that would likely produce strong KD symptoms. The KDA's annual conference brings together many people affected by KD and many researchers investigating the disease and it could be a good opportunity for you and your sister to find out to what degree her symptoms and progression are similar to others. The next conference is in San Diego, October 31 - Nov. 2.
Women with TS have increased risk of diabetes which can contribute to damage of nerves and muscle. Insulin resistance, the first step on the route to developing type 2 diabetes, correlates strongly with the severity of KD. If your sister is diabetic or pre-diabetic anything she can do to better manage that condition could prove beneficial. I'd put cutting intake of sugar, especially processed foods with added sugars, high on the list of potentially beneficial things to investigate.
Hi ToddAllen - Thank you for your informative feedback. She never received androgen replacement therapy. I am saddened and surprised by the rapid progression of her decline. One year ago she was walking (albeit with a cane), driving a car, and working part time as a cashier. This week, I had to carry her (thankfully she is only 70 lbs) up and down the 5 steps to get out/back in the house, put her in a wheelchair and pick her up to put her in/out of the car) to go to her eye doctor appointment. This does not sound like any of the many articles I have read on Kennedy's disease. We are going to her neurologist this week (6-month follow up appointment) and I am concerned she will need a power wheel chair and 24 x 7 help very soon (I currently cook/clean/laundry, etc.) but I can not move in and have my own family to care for. Yikes!! This is so scary and I am sorry to be asking so many questions. I know Kennedy's disease is hard, but her situation seems to be progressing at light speed.....not sure this is what people have experienced with Kennedy's disease usually. I know she is unique (female with Turner's syndrome/one X chromosome only), but it does not seem to be following the progression of anything I have read on line. Thanks again for your kind and helpful input on this forum.This message has been edited. Last edited by: Lilly,
Location: Brooklyn, NY
Lilly - I'm very sorry to hear about your sister. I hope things get better soon for you both.
I wanted to chime in on progression vs. CAG repeats. I have 53 repeats, which is a very high number. I'm currently 37 and my progression has been glacial. I have to look back a couple of years to see the arc of decline. That being said in hindsight I believe my onset was much sooner than others - I can see mild symptoms beginning in my mid to late 20's.
Such a rapid decline seems like it might be something besides KD. I truly hope you're able to find a solution to not only stop the decline but also reverse it.
Best of luck.
Location: Chicago, IL
Lilly, it sounds like you are making the best of a difficult situation and your sister is lucky to have your support. Your sister's condition/progression seems atypical for KD. I imagine it would take a major research project to get answers to how much KD and Turner's are each contributing to her condition and if there are other factors. Considering how often KD alone is still misdiagnosed as ALS or other diseases which share early symptoms getting an accurate diagnosis for your sister is surely a challenge. Here's a recent review article that does a good job of summarizing much of what is known about KD, especially from a clinical perspective.
Kennedy’s disease (spinal and bulbar muscular atrophy): a clinically
oriented review of a rare disease
My guess is stress is a contributor. Chronic stress is known to accelerate many diseases and deterioration impacting ones health, work/finances and ability to handle the challenges of daily life is stressful. All the things you have been doing to ease her burdens have undoubtedly helped reduce the stress on your sister of her situation. Hopefully your sister is or will soon be receiving all benefits for which she is eligible such as SS disability, etc. and that will be sufficient to keep this from overwhelming you with stress too.
Thank you, ToddAllen and Ben. I appreciate your helpful replies. I am going to help her with her SS Disability application and was so grateful to find the resources on this site. I will definitely read the link, ToddAllen. Thanks again!!
Hi Todd and Allen and Ben...Is has been about 2 years and I have a lot to update. Firstly, I want to thank you from the bottom of my heart for all the information you post here. I used the SS Disability guidance you provided and her application was approved within weeks of submitting. you are all AWESOME for helping others. I never realized how hard it is for individuals with disabilities to get help...this forum is a GOD SEND. Unfortunately, my sister's disease is progressing really fast...sometimes I wonder if it is really KD (even though the genetic testing confirmed it). I will post more and ask for perspective on a different site...just wanted to THANK YOU!!
The link in the preceding post didn't work for me. This is the correct link. https://scihubtw.tw/10.1007/s00415-018-8968-7
It is a good paper and well worth reading.
Location: Chicago, IL
Hi Lilly, I'm sorry to hear your sister's condition is progressing quickly. Considering how rare KD and Turner's both are I'd be surprised if you get an answer to how much of her symptoms are due to either condition. I wish we could help more but I have little to offer beyond speculation. There is a lot of variability with KD in both age of onset and rate of progression which suggests to me KD all by itself can be quite mild but in combination with other factors it can be devastating. In the past year I learned I had severe lead poisoning. There is a lot of overlap between the symptoms of lead poisoning and KD and since treating it I am doing remarkably better. I hold out hope that your sister and everyone else suffering from KD will likewise find things making their condition worse than it would otherwise be and achieve some respite.
I'm glad you got her SS disability quickly. I was concerned that with all the news of federal deficits and the resulting pressure on social spending it might take more time and effort to receive benefits.
Thank you, ToddAllen. I am glad that you figured out you had complications with lead poisoning.....wow! Just underscores how important it is that you be your own advocate. How did you get lead poisoning????
Location: Chicago, IL
Lilly, I wish I knew the source of the lead poisoning but I doubt I ever will. We found moderate amounts of lead in our water, soil, house dust, kitchen floor tile glaze, bathtub glaze, some dishes and cookware but nothing that explains the very high blood level I had.
Medical tests suggest a long term chronic poisoning and also suggest impaired detoxification such as very low glutathione and vitamin C. I’ve read that lead poisoning was very common during my childhood in the 60s and 70s before the restrictions on leaded gasoline and paint.
When the body can’t excrete lead as fast as it is coming in it stores the excess in places where it does less harm such as in fat and especially the bones. I suspect my fat and bones had a heavy load from a lifetime’s accumulation and my recent efforts to get healthy, especially dropping 45 lbs of weight, mobilized long stored lead causing my blood level to spike acutely high.
Kennedy's Disease Association
PO Box 1105 Coarsegold CA 93614