Myotonic Note: The following is a moving story written by an Myotonic community member in Poland, Margaret Czajka. Read on to learn about her family’s struggle to find a diagnosis and navigate life with a neuromuscular disease in Poland.
This is my sad story, written as a doctor specializing in internal medicine and diabetics. It is about our struggle, mine and my husband’s, who is an academic teacher from the Maritime Academy and was diagnosed with DM type 2. We live in Poland and we were encouraged to share our story by Myotonic. I have written a version of this story for my friends in Polish, who are doctors like myself. By sharing our story I would like to raise public awareness of DM 1 and 2, and help familiarize people with the problems of people who suffer from this rare disease in my country.
Let me say a big "thank you" to my friend Margaret who help proofread my English version of the story on dying muscles.
From Symptoms to Diagnosis:
In 2006 my husband underwent coronary angiography which showed that two of his heart arteries were closed. He was advised by the doctors to undergo cardiac surgery. After refusing this treatment, his cardiologist advised him to take medication in order to improve his heart function. One of them, statin, also called atorvastatin, is a specialist medication to lower high cholesterol. After many years of taking this medication, he observed that his legs were becoming weaker and weaker. He felt no pain, no contractions, yet he had serious problems with walking. He could not walk quickly and he had difficulties going down the stairs.
Eventually, he decided to stop using stairs altogether, yet his condition was not improving.
I finally forced my husband to make another appointment with a cardiologist. All cardiology procedures were repeated, including a coronary angiography. The image of his coronary arteries had not changed over 10 years, except that the closed arteries in his heart could be recanalized without surgery. During his second stay in the cardiology ward, my husband had an additional consultation with a rheumatologist and neurologist as his legs became weaker. The local neurologist could not find any cause for his weakness, but my old friend from college, who is a rheumatologist, recommended conducting various tests, like an EMG and the levels of antibodies in different parts of his muscle tissue.
We waited for the EMG results for many months. For those who are not familiar with this type of examination, EMG is a special technique for evaluating and recording electrical activity of skeletal muscles. When we finally saw the results, all the examined antibodies in his tissues proved to be negative. However, the result of the EMG was surprising. As it turned out my husband’s muscles had myotonia, a prolonged contraction of muscles after a voluntary contraction, or electrical stimulation. The EMG revealed the prior damage of muscle tissue but no damage to the nervous system. The EMG results were then reviewed by a genetic specialist at the Medical University Center, but nothing was diagnosed from the EMG result.
For the next few weeks we were trying to find a neurologist to diagnose my husband properly. Finally, after many attempts, we found a doctor who found the cause - myotonic dystrophy type 2. None of my doctor friends had heard of this disease before and none of my husband’s family members had been diagnosed with a similar disease, but surely he must have inherited it.
The neurologist ordered genetic blood tests and once again we waited for the results as the samples were sent to a specialized center in Warsaw, the capital city. Finally, after three long months, the results came and unfortunately the diagnosis was confirmed. We decided to test our only son and again we had to wait three long months. This time, to our great joy, the results proved to be negative. At least our son was healthy, which was a kind of consolation in these tough circumstances.
I work with diabetic patients on a regular basis and what a coincidence, the medical abbreviation of diabetes mellitus is DM 1 or DM 2 - the same as myotonic dystrophy.
From Diagnosis to Real Life
When my husband was finally diagnosed with DM 2, I started searching for information about this disease. The 1st website I found was a Polish blog run by Lukasz Sznajder, M.D., Ph.D., a biologist from Poznań. He is currently conducting research in the USA after receiving a fellowship grant for 2016/2017 from Myotonic. When he started his Polish blog he was working in Poland and this blog was my first source of knowledge on DM. The second website was the one run by Myotonic. My English learned at school is fluent enough to read and understand all the articles posted there. I found them really interesting and the movie "Heroes" was truly touching for me.
A patient diagnosed with DM requires constant and comprehensive care including regular, specialized supervision of a neurologist, cardiologist, endocrinologist, and physiotherapist to name a few. In my country, DM patients do not have access to this type of assistance, and this is also true of patients with other types of muscular dystrophy. Honestly, there are very few available doctors in Poland involved in such care to help people like my husband. The Polish healthcare system is not prepared to deal with these kinds of cases.
What is even more frustrating is that DM patients in my country face complete social exclusion. My husband, for example, in his current condition, finds many obstacles in everyday life, such as using stairs. Unfortunately, most of the public places in Poland including shops, offices, theatres, cinemas or private houses do not have facilities adjusted for the disabled. There are no lifts, handrails or even adequate footpaths to make their life slightly easier. These people struggle on daily basis, not only from the medical but the social side of their lives as well. As a result of general ignorance, lack of sympathy or sometimes even malice these people cannot practically lead independent lives. What a shame.
For the Future
As a passionate photographer, I have been taking lots of pictures and sharing them in my personal photo-blog for many years. I have decided to create a special album dedicated to DM disease to raise public awareness. The lack of knowledge about this disease makes the proper diagnosis impossible in most cases. According to Dr. Sznajder, the number of patients with the undiagnosed DM disease in Poland is 10 times higher than the official records show. What makes the diagnosis even more difficult is the fact that the symptoms vary from case to case. This particular disease has many faces.
The prime goal of the English version of my album is to present the problem of the DM patient’s society in Poland. Its primary goal is to highlight the complexity of the everyday problems of those suffering from DM. Perhaps the public awareness will help others to find a solution to this problem which would make the life of these people more bearable. For people like my husband, the information on the Myotonic website is of great value. We appreciate all your efforts.