Hello all. I have been lurking on this site for a few years since being told I had SBMA. The problem was that the DNA test was negative. Thinking back I first started having tremors in my early twenties around 1992. I was a medic in the Air Force so my doc was concerned it might be a thyroid problem. Nope, thyroid was fine. And the tremors were not continuous just more noticeable when I had been working out or felt stressed. Over the next several years I would have cramps on and off usually at night. I certainly did not think it was anything ominous. I worked out daily ran surfed and rode my bicycle on average a 100 miles a week.
1999 was the first time I had trouble standing up on my surfboard. Of course I blamed that on getting older and an old knee injury. I regularly had random fasiculations and would get these horrible cramps in my torso.
2002 was the first time I had trouble going upstairs although I was carrying a queen size mattress at the time. Again I did not take that as anything wrong. I was not as active as I used to be but still went to the gym a few times a week. My sons kept me plenty busy. I was working full time and had returned to school to complete my degree in nursing.
In 2005 I had an episode of chest pain with elevated blood pressure. My charge nurse took me down to the ER to get checked out. Again nothing found to be wrong except my CK level was about 1700. The ER doc was not too concerned about this since I had just started a spinning class a few days earlier. Yes I was still going to the gym and still working out pretty hard. I had notice that my bench press strength had decreased quite a bit. I figured I had not been working out enough. 2006 was the first time I fell. It was raining as I left work and I jogged out to my jeep. As soon as I lifted my right leg the left knee buckled and I found myself flat on my back in a puddle of water. Over the next couple of months I had two more episodes of my knees buckling. Both times were after really busy night shifts in the ER. I was walking out to the jeep, my legs were starting to feel funny and as I stepped down off the curb, down I went. I made an appointment to see my primary DOC. I explained what was going on, he examined my knees and he was very concerned that I might have ligament damage in the knees. MRI of both knees showed no damage. Still no idea that something more sinister going on.
In 2007 I bought a two story house. Within a few months I started having trouble going up the stairs. My lovely, now ex, wife suggested that I just need to lose weight. I was pushing 40 by this time and was not working out on a regular basis anymore. I was feeling stressed, my energy and libido were down, constantly tired and my ex was getting frustrated that we had not conceived another child yet. So off to the urologist and find out that I only had 4 sperm and only two of them were swimmers. Guess that was the final straw for the ex as I was not willing to mortgage the future for fertility treatments. Call me selfish but I figured between my two and her three we had enough kids to be happy. Bye-bye she went and I started having trouble getting out of chairs.
I started researching conditions on the internet as to what could be going on. I went to my doc and explained what was happening. The lack of energy trouble with stairs and getting out of chairs. I could no longer stand up after squatting down without pushing up on something at the same time. Doc tests my testosterone level and gets an MRI of my lower back to check for spinal-stenosis. Low back is fine but I have the testosterone level of a ninety year old man. He puts me on testim gel to boost my testosterone. All the reading I had done on the internet lead me to believe that I needed to see a specialist and asked my Doc to send me to a neurologist. This was at the end of 2009.
April of 2010 I finally got in to see my neurologist. I am sure every one knows the drill at this point. Nerve conduction EMG blood work. Wait one month for the results and what does my neurologist tell me? Jeff, I can't tell you this isn't ALS. I want you to go to xxx medical center for more testing. That was probably the longest 6 months of my life waiting on that appointment. Working in the medical field I knew full well what that meant and I was more afraid to tell my kids than anything. I spent hours and hours reading articles and fitting my symptoms into any disease but ALS. November of 2010, and I finally have my appointment at xxx medical center more blood work including NCV, EMG, muscle biopsy and DNA. At the end of this the neurologist says it is not ALS but he is pretty sure it is SBMA. He then tells me to go home and look it up on the internet. He asks me to call back in two weeks for the results. I leave happy thinking "thank God it is not ALS". Is life ever that simple?
I of course went home and read everything I could on SBMA. When I called back to get the results I was told that the muscle biopsy was positive but the DNA test was negative. The doc then tells me it is SBMA, keep reading up on it and see me in six months. Well I did as I was told and kept reading and reading and reading. I found this website and read as much as I could but didn't want to join as I was not convinced that it was SBMA since the DNA test was negative. Everything I had read to this point said that the DNA test was the defining test for SBMA. I could not even qualify for the exercise clinical trial since I had a negative DNA test. I followed up two more times at xxx medical center before I decided to seek another appointment. The neurologist did a few more tests for other diseases but could not explain why the DNA test was negative. I really felt like he did not seem that concerned about the questions I was asking.
September of this year I went to the Mayo clinic in Jacksonville. I was there for 3 days and felt like more was done in 3 days than in the last two years of visiting the other medical center. Dr Dimberg at Mayo was in complete agreement that the DNA test for Kennedys disease is 100% specific and sensitive for the disease. EMG NCV blood work autonomic testing and a MRI of the brain. I was pretty sure that I would finally get an answer as to what was really going on with my body. This time the DNA test was positive. I return to Mayo next week and will find out how many repeats I have. I also will see an endocrinologist to discuss my low testosterone levels.
I apologize for the really long initial post but I wanted to share what I have been through for a couple of reasons. First and foremost, be an advocate for your self. As a nurse I have always been an advocate for my patients but was not doing so good for myself. If you are not getting the answers you want, keep looking keep searching and get a second opinion if your not satisfied with what your doctor is saying. Denial is the enemy. I should have been more aggressive and sought medical advice sooner. I suspected something more was wrong for at least two years before I decided to see a neurologist. If your a visitor here looking for answers, like I was for almost 3 years, stop wasting time. Say hello then go see your doctor.
I look forward to meeting everyone and sharing information with you all.This message has been edited. Last edited by: Jeff,
And I'm glad to hear you finally discovered some answers!~ The members here (from my experience) have been very proactive in responding to questions you may have, so I hope this site wlil provide some guidance/strength/and answers that you may have.
Thanks for sharing your story.
Thanks for posting your story. When you find out your CAG repeat count, please let us know. Also, ask for a copy of your original DNA test results to see what that count was. The DNA test is something like 98.9% effective, but as you know, there is always a chance there was an error at the lab.
I have been tested three times and my CAG repeats were reported as 51, 53 and 53. Of course, several years earlier I was diagnosed with ALS. Like you said, I was very relieved to find out it wasn't that.
My first neurologist performed all the other tests first and they were no fun. If there is KD in your family, explain that to your doctor, print out a copy of the test for him, and recommend that he draw your blood for the DNA test to determine if you have it. The DNA blood test is still the most definitive test for KD.
Has anyone on your Mother's side of the family had symptoms? The "tip off" for my neurologist was when I told him that my uncle (mother's brother) had died in 1988 after a 12 year battle with ALS.
Location: Dallas, TX
Nice to meet you Jeff and all of you here. I had the pleasure of speaking to Terry today and he helped me get signed into the forums. I am also new here. My name is Mark and I have not been properly diagnosed but hopefully will have the test done tomorrow and the results back soon.
I am currently 44, married w/ an 18yr old daughter living at home going to college.
As mentioned, I have not been properly diagnosed, but have been ruled out for ALS, MS, ect.
I have been through the gamut of Dr.s and specialist and managed to confuse the best of them. I have had a cervical fusion and a lumbar fusion.
My progressive condition prompted me to be referred back to a neurosurgeon. the MRI revealed spondyliosis and cervical stenosis but no spinal cord compression. The Surgeon said I did not have a need for surgery and referred me to his physio partner.
He had me stick out tongue and unbenounced to me it flopped like a fish and had scalloped edges.
My complaints have in the past has been of neuropathy in my feet bilateraly, atrophy of my left calf, weakness in my legs, arms and shoulders, severe and prolonged cramps, spasms, fisiculations, erythema nodosum. I currently take weekly testosterone shots but if test are positive I will stop that ritual.
I have an absence of DTR's in my left knee and Achilles.
I am relieved to see the forums are open and active. After ten years of progression and no answers from the experts it is a relief to get, what may be, the missing puzzle piece.
I understand the rarity of this condition and it is not the club I would voluntarily pick, but it seems from my aligning symptoms, it may be where I belong.
Sagemark, let us know the results of your tests. Naming the health issue is helpful, even if there is currently no treatment for KD.
Location: Las Cruces, New Mexico
Hi new folks to KD! Very interesting...(remember Artie Johnson from Laugh In TV show?). I am very interested in maybe getting retested and to have my DNA (repeaters??) checked. All the new info makes my head spin! The back stuff has happened to me, and I await a 3-level neck fusion now. (My ma is dying from bone cancer, she had TB as a young 21 year old and it can reactivate as her body weakens). I put my surgery on hold until I find a doc who can deal with all of my issues. One of these days I am going to read through this whole website. By the way..Nut pickin' time is here again. Woo-hoo!! Hope the price is decent, as I wanna new shiny spine from Sannie Clause!
Location: Dallas, TX
LOL, So I went to the Dr. yesterday and they let me know that my appointment was for today. Overly excited I guess.
I presented my case to my PCP and he was intrigued and almost as excited as I am. He has been treating me since 2004 and always comforts me in not having anything to name my motley symptoms.
He commented that I would need a Neurologist diagnose me and inquired if I had found a Neuro that I liked. I let him know that I have been more impressed w/ his knowledge-base and manner than any specialist that I have visited and pointed out that all is need is two simple blood test for diagnosis. My flattery worked as he ordered the CKP test and is going to look for a local gene testing center (being in Dallas there are several to choose from) so he is doing a little leg work before ordering the test.
Basically, he was feeling confident that we may have found the proper thing to call my problems rather than being a basket case. So anxiously we wait.
Lori, I am sorry to hear about your mother. Nothing is harder on the nerves and heart than a suffering relative, particularly a parent.
I hope you are able to have your procedure soon. Hopefully it will bring you some relief.
If you are in Dallas, I would highly recommend you see Dr. Daragh Heitzman at Texas Neurology (214) 827-3610. My neurologist in Abilene could not determine what my problem was and referred me to him. After talking to me for 20 minutes, he said he was 99% certain I had Kennedy's disease. This was before the EMG or genetic test confirmed it. They have many resources and counselors and are very experienced with this disease. They have been very helpful to me.
Dr. Heitzman was also recommended by another person with KD. He is shown in our recommended doctors list on the KDA website. Doctors familiar with KD
Location: Dallas, TX
Thank you for the Dr. referral. I just checked my HMO list and he is on it and less the 10 miles away, so that is great! Thank you again to both of you.
Location: Dallas, TX
I had an 8:15 call from the Dr.'s office this morning. Pretty unusual for them. The CPK test came back already and showed slightly elevated at 206. Not outragous, but I have been pampering myself over the last couple weeks after overdoing it one day.
He noted that they are still looking for the DNA clinic, but I think he was waiting to see if the levels came back high before ordering the test.
I have no liver or heart conditions.
There are several DNA labs in your area. You can get a list off of our website. The benefit of the DNA test is that will conclusively say "yes, you have it" or "no, you don't have it." Keep us informed.
C.D -- As far as we have been able to tell no one, on my mothers side of the family, has ever experienced or been diagnosed with KD. It is quite possible that I am the first in my family. I am a true mutant. LOL. As a super power KD sucks. I have two younger brothers that are not experiencing anything like this. I have two sons so it won't get passed on past me. My youngest brother just had a daughter and is trying to get some genetic counseling to see if he should be tested.
Mark -- good to meet you. Hope you get your answers soon.
For those still awaiting diagnosis; when I heard of KD (through my brothers testing)I was told a three month wait to see a geneticist, another two months for test results (if they deemed me worthy). A KDA member suggested I check the BAYLOR site in Texas; I downloaded the forms, had my MD sign them, paid to have the blood drawn (your doctor could do it), had it shipped (I live in Canada), paid the roughly $300 fee and had results in less than two weeks. I know that the geneticists play an important role in facilitating treatment, and that the immediate cost could be prohibitive to some, but with the support of the people and their experiences on these pages; knowing for sure was worth it
Kennedy's Disease Association
PO Box 1105 Coarsegold CA 93614