I would like to introduce my self with a brief history. I'm 64 and living with BMD. How I came to find out the correct diagnosis of Becker muscular dystrophy is quite interesting and hopefully informative. I hope that my story could help those who might be in a similar situation. There will be a tie in to the work that the newbie PAAC has begun working on.
In 2000 at age 50, I thought that it was a proper time to start an annual physical routine. I visited my internist and all seemed to go well, and then I mentioned how I was having quite a bit of difficulty getting out of a chair and going upstairs. I thought that the difficulties I was experiencing could be age related but I did have my concerns- so 'I asked my family doctor just what I had.....' A line from as song from the Young Rascals. By the way I'm a huge classic rock fan- in case you couldn't tell. He checked out a rather large medical book and said 'polymyositis'. I was sent to a rheumatologist who ran a CPK . It was around 1500. To confirm- a muscle biopsy was performed in my upper right thigh. Although the results were not totally conclusive, there was myopothy. I was immediately put on a high dose of prednisone- the drug we all love to hate. After being on this high dose, I probably could have been nominated for the person the least easiest to live with. Lots of energy and no sleep. This was July of 2000. Unfortunately, in Sept.of that year I had a fall in the house and turned out I broke my Fibula, that's a story in itself. The doctor attributed the bone break partially to the side effect of the calcium leaching property of prednisone. Confusion on the part of the Rheumy lead to a visit to the famous Mayo clinic in Rochester Minn. Another biopsy and many other tests- again polymyositis was the diagnosis, an autoimmune disease. For the next 11 years I was put on all sorts of different drugs used to treat an autoimmune disease. I went through IV Gamaglobulin [IVIG], Metotrexate and Cellcept, all immune suppressant type drugs.
October of 2013, my grandson Yehuda was diagnosed with DMD. He was 5 1/2 at the time. He was a late walker and had shown signs of muscle weakness and slow growth. He had chronic elevated liver enzymes that were progressing higher. When the liver specialist suggested a liver biopsy my daughter suggested testing his CPK, knowing that her father was tested regularly - 5000 was the number. Thinking it could be polymyositis, an appointment was made with a Rheumy at Lurie's Childrens in Chicago. As it happened, Yehuda woke up with severe thigh pain a couple of days later and was told to not wait for the appointment but to take him immediately to the ER at Lurie's. After an MRI showed inflammation, it was determined that further testing would need to be done, but that since the muscle pain subsided Yehuda would be released. It was decided to run another CPK prior to his release. It was 55000. It turns out that anesthetic, especially the inhaled type, could dramatically increase the CPK. With a CPK that high there is concern that since the kidneys have to work serious overtime to clear the blood, this could have a bad effect on the kidneys. Two days later when the CPK dropped to 10000, he was released.
Genetic testing confirmed a partial deletion of exon 45. A diagnosis of DMD was given. Deflazacort was prescribed.
So here's where the story gets really interesting. As a follow up my son-in-law did extensive research as to where they could go for a second opinion. In Feb. of 2014 Yehuda was to be seen by Dr. Jerry Mendell at Nationwide Children's in Columbus Ohio. My wife Shelley and I were asked to be available to babysit Yehuda's 2 year old brother. We came to Columbus. I decided at the last minute to escort the Goldstein's to the doctors office. Dr. Mendell happened to come right in. I was going to leave after a few minutes but he got there before I could escape. He asked my daughter how she happened to know about doing a CPK test- 'they do that on my dad'. with that said, Dr. Mandell looks at me - 'I'd like to examine you'. He does his examination on me, turns to my daughter and says "he definitely does not have polymyositis and never did, I'd bet the farm that not only does Yehuda have Becker but your dad does as well".
Genetic testing was done and my test was an exact duplicate of Yehuda's, partial deletion of exon 45. Also my daughter was tested and confirmed a carrier.
The whole crux of this story is about the ramifications of having an incorrect diagnosis. For Yehuda, being on the verge of having a muscle biopsy and having been given anesthetic that could have resulted in a disastrous outcome. For me, 14 years of going through heavy duty immune suppressant drugs, numerous unneeded blood tests, biopsys that some how were never stained correctly or never interpreted correctly, mega dosage of prednisone.
The PAAC has undertaken a number of issues that need to be addressed. For obvious reasons the one that I'm extremely interested in ts the furthering of new born screening. Much like the pilot program being done in Ohio. Early testing would lead to correct diagnosis, thereby eliminating unneeded and potentially dangerous tests and could lead to early intervention.
I am very excited and privileged to be invovlved with a very knowledgeable group of young men on the Adult Advisory Committee. We will be addressing many issues that effect our community. We expect to have a large impact on the positive things that will be coming from PPMD in the very near future. Thanks ever so much. Michael Stone