Cyndi's Story of her Journey of Discovery

It began about 5 years ago-my long journey of trying to find a cause for my symptoms. I had progressive weakness and pain which couldn’t be explained. I went through some testing including multiple EMG/nerve studies (quite painful) and a punch biopsy of my thigh. Both tests were considered abnormal but didn’t provide any helpful information. In 2012 I had some major falls resulting in injuries to my eyes, mouth, teeth, knees, and right hand. I was referred to a neurologist and had another EMG/nerve study which again did not provide any helpful information about why I was having this increased weakness in my legs. I was having more problems with lifting my legs high enough to get in a car, dress and even walk without tripping. At the end of 2012 I had a deep muscle biopsy done which was highly suggestive of a rare disease called Myotonic Dystrophy Type 2. I was recommended to have genetic testing to confirm what was suspected, but I was unsure that was something I wanted to do.

In my professional life as a nurse in 2013 I was part of a team beginning a project to integrate genetic and genomic information in the care of patients at our hospital. I spoke with a colleague leading that project about how I had been sick a lot, how I had been worked up by my family doctor, and seen several specialists. I explained to her that they were telling me I needed a genetic test to confirm what was suspected, that I had Myotonic Dystrophy. She and I discussed the benefits and risks of genetic testing and about the GINA legislation that had been put in place to protect people like me from discrimination based on genetic test results. Based on our conversations and all I learned being involved with this MINC project, I decided to go ahead with genetic testing. I was almost relieved to receive the results confirming this was the cause of my symptoms and that I wasn’t crazy! 

I am learning to live with this disease. I’ve had to get hearing aids as a result of my increased hearing loss. I havebilateral cataracts, another symptom of Myotonic Dystrophy, but we are watching and waiting before removal. I tried to stay active with swimming and walking but had numerous falls. Due to dysphagia (difficulty swallowing) t’s been tough fighting off respiratory infections and several times I’ve been seen urgently or in the ER for aspiration pneumonia.  I’ve since learned that this is often a problem seen in patients like me. I’ve had to go through speech therapy, physical therapy, and pulmonary care. I use a device for mobility and am consistent in doing over 1.5 hours of therapy every day.  Needless to say at times I get depressed from all that I am going through.  

I finally had to quit work in 2015 after having another bad fall. I do try to volunteer for short periods of time but I get so fatigued. I miss working as I was really happy in my job.  

I am glad I had the genetic testing done. Knowing the diagnosis has not been easy but it has helped me face the future knowing more about what to expect. Now that my healthcare providers and I know I have this disease and what problems often occur, we can be more proactive. For example, I was seen by a cardiologists to determine if I needed a defibrillator put in for preventive care -but it wasn’t yet needed!  They did completely change my cardiac medications to prevent the fibrosis that presents in the heart muscle in this multisystem neuromuscular disease.   I tried to get my family to be proactive in their healthcare, too. I explained to them how this is a genetic disease that gets passed down through families and that they should consider genetic testing. Mostly, they just blew me off. One sister was tested negative, and I have had some interesting discussions with a niece and nephew who are at risk.  Mostly, they didn’t want to hear about the potential for this disease in their descendants. I shared information with them anyway because I wanted them to be able to know the odds and make informed decisions. I also offered to be available for them. I would like to be able to save others from the pain, uncertainty and expense I experienced during the diagnosis process..  To this end I contacted all of my know blood relatives in all states, though I had been out of touch with many of them.

For more information about Myotonic Dystrophy Visit:

https://www.mda.org/disease/myotonic-muscular-dystrophy 

https://www.genome.gov/25521207/learning-about-myotonic-dystrophy/ 

http://rarediseases.org/rare-diseases/dystrophy-myotonic/ 

https://rarediseases.info.nih.gov/diseases/9728/myotonic-dystrophy-type-2