Do you have ALS or Kennedy's Disease, an often mistaken diagnosis!
I want to begin this by saying I am not a doctor and am not in the medical profession at all. I am a wife, a wife who did research as her spouse was beginning to decline in his health while all his doctors said his health was "just fine!"
It was 2004, my husband was not a big guy by any means, about 5'11" and at his heaviest weight he was 185 pounds. He worked very hard, laborious work on a bakery dock moving 10 - 20,000 pounds of product each afternoon/evening by himself, 300 products, separating into 30 different route orders. One night at work, his foot just seemed to suddenly drop and he fell. He began to notice the amount of bread he could previously lift was getting more and more difficult for him to lift.
As my husband continued working, his ability to move his loaded was becoming more and more difficult yet he did his best. He was taking longer to get his work done and the management at his bakery was beginning to take notice.
I as a wife was beginning to see changes as well. The once muscular upper arms of my husband and his left calf had dwindled to stick thin. Something was definitely not right. The left foot that dropped, stayed dropped causing my husband to make a clap, clap, clap noise as he walked and made tripping a big problem.
I set up a complete physical at our primary care physician's office. He was seen by a physician's assistant, bad, really, really bad!! Not only did he pass his physical with flying colors but the physical wasn't billed as a physical. My husbands uncle on his mother's side had been diagnosed with ALS about 7 years previous. His uncle already had slurred speech, walking difficulties and was falling often. My husband asked our doctor if he could possibly have ALS but he was told no.
We received a really big bill from the doctors office and when I called to find out why his appointment wasn't billed as a physical, I was told that assistant no longer works there so I had no proof he had gotten a physical and not what had been billed. I was livid, the insurance company wasn't going to pay the bill. I went to the office at their busiest time and threw a fit. A week later, we received a letter inviting us not to be patients to that office anymore! Why am I going there? Because things happen for a reason, right ? He passed that physical with flying colors yet I knew there was something terribly wrong with my husband!
I found a new doctor and quickly set up another physical. The new doctor immediately found that my husband had extremely elevated CPK levels which indicated muscle damage! He wasn't an athlete and he didn't have a heart attack so something else was going on. The levels were way too high to be normal. Now we were told that he may actually have ALS, what a scary thing to hear. We were sent to a neurologist next. A family history a few pokes and prods and we are told he needs a genetic test.
It was the end of 2005, I called our insurance to find out how to go about getting the genetic test done. There's only one lab in the US at the time who did this type of genetic tests, Athena Labs on the East Coast. If you ever need to use them, read this CAREFULLY: Athena offers a discount up front to pay cash for your genetic testing. You will NOT get another photo offer! I got all the approvals necessary from our insurance BEFORE the blood draw. I was told by our insurance that the test was covered so we didn't pay anything up front to Athena. After the test, our insurance did not pay the entire bill saying it was over and above necessary charges and we were responsible for the remainder. Athena would not give us any discounts after discussing this with them! The entire bill was about $7,000 in 2005. Anyway, Athena sends two nurses to your home to draw the blood of the patient. Very convenient. It took a very long time for the blood results to come back. The blood test narrowed down to a number of possible diseases. Next, an actual muscle biopsy was needed.
My husband, being a long term employee of the bakery, decided he would wait till 2006 for his muscle biopsy so he could get another year of 💯 % attendance at work. He continued to struggle at his job but he never gave up! His bosses would get on him about the fact he was getting slower but he was still completing his work each shift. There were times he fell and fell hard. He worked mostly alone so usually nobody knew if he fell.
In October 2006, his manager called a meeting in the main bakery. My husband went to the meeting, his foot clap, clap, clap as he walked in. Someone said, "What's a matter with you?" My husband had a lottery to ticket that fell out of his pocket, he picked it up and said, "I have the winning lottery ticket. I'm here for one last meeting before I retire." After the meeting, he went to a buffet and fell on the tile floor, breaking his left hip! He went to urgent care and was misdiagnosed once again! They failed to see his broken hip. He was sent to a couple different doctors and physical therapy for 2.5 weeks with a broken hip! Walking on it the entire time, every day was agony. Once again, we called and had to insist on a test, an MRI to find his broken hip. Now he didn't have that 💯 % attendance at work anymore. We were very lucky tha the orthodopedic doctor was willing to allow the muscle biopsy to be performed while he was still in the hospital. A piece was removed from his upper arm and thigh. He now had his "lottery ticket" to retire! How prophetic were his words? He never went back to work again after that meeting....
The muscle biopsy confirmed that my husband had Kennedy's Disease or Spinal Bulbar Muscular Athrophy, an adult onset Muscular Dystrophy very similar to ALS but much slower in progress. We were referred to the MDA or Muscular Dystrophy Association where one with MD can see a host of physician's at one time. We learned that Kennedy's is often misdiagnosed as ALS. It's a very rare disease, only 3 men locally have been diagnosed and we have never met anyone else in person with this disease.
Image from Wikipedia: Genetics of Kennedy's Disease, how it is inherited.
We now knew that my husband's uncle did not have ALS, he had to have Kennedy's Disease! Unfortunately, some people are ignorant, his uncle was one of them. He had his ALS diagnosis and was making money selling vitamins and telling people how long he had survived by taking those vitamins. The uncle was to afraid to do any of the required tests to get his ALS diagnosis made or refuted. He refused to have the muscle biospy or genetic blood tests done.
The day my husband got his own diagnosis, his uncle was celebrating 100 months living with ALS. His uncle would not accept the fact that since the two were related and how genetics work, he had to have Kennedy's Disease as well. The uncle is the brother of my mother-in-law. Look at the chart and you will see that mothers carry the x gene and give the disease to their sons only, daughters can be carriers. So my husband's grandmother was a carrier, passed the disease to the uncle, my mother -in-law was a carrier as well. Shameful to know the truth and hide it from real ALS patients for your own monetary gain!
On the flip side, we have to wonder that when said uncle came down with pneumonia, did his family let him go thinking he had ALS?? We don't think he ever informed his family that my husband had Kennedy's Disease.
Symptoms for my husband actually began 10 years prior when we look back. He had hand tremors. My father had Parkinson's Disease so that was foremost in my mind. He eventually came down with severe night leg cramps. So severe you could see all the muscles bulging and nothing could alleviate the pain and cramping. He took quinine in larger and larger doses, easing off the cramps. Then one night he took eight of them and got itchy skin, weird n the head and felt poisened. We put him m in an oatmeal bath to ease the itch.
After he was diagnosed with Kennedy's Diasease, he was put on Backlefen which I may have spelled incorrectly. My husband began going downhill and fast! His head was bobbing, his speech was slurred, he felt he was in a fog and actually felt he was dying! He had me record him on video because he really thought he was going to die within days. We took him to the hospital where once again, nobody could figure out what was wrong with him. It took a physician's assistant at an outside doctor to figure out that the Backlefen was making him extremely sick! So much for all the doctors at the hospital. Once that drug was stopped, th symptoms cleared and he returned to how he felt previously.
Now, he falls a lot. He's broken a wrist, that hip , almost broke it again a few months ago. Dry drowning at night is a constant . Eating can become a chore. His favorite, steak, can be very difficult to chew. His speech gets slurred when he gets tired, he really doesn't know it and it frustrates him when I don't understand him. Walking is a privilege not a promise! He gets up every day no matter how he feels and walks no matter how small or long that walk is so he doesn't lose the ability and end up permanently in a wheelchair. Catching a cold or a flu could be disastrous for him if it turns into pneumonia as his chest muscles for coughing are weakened.
We are extremely grateful that he has Kennedy's Disease and not ALS as the lifespan of a Kennedy's patient can be normal. We take each day as it comes and adapt to each situation.
I hope that this story may help someone out there who has been misdiagnosed to find the correct diagnosis. Don't settle for an answer without doing everything in your power to seek out all avenues to get a correct diagnosis, it's a matter of life and death. Do the genetic tests and muscle biopsy so ou have a definite answer. It's so important too because if the disease has the possibility of going on in your family, you can inform family members who can then decide to purchase life insurance and disability insurance! Had my husbands uncle been grave enough to take all the tests, we would have known that m husband 's mother was a possible carrier of this disease and we could have made an informed decision about disability and life insurance way before this disease appeared.
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