Why Self-monitoring Our Functioning Levels Is Important

Why Self-monitoring Our Functioning Levels Is Important
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The muscular dystrophy world is ever-evolving.

I began to have symptoms of muscle loss and weakness in 2006. Science had not yet discovered my form of the illness, limb-girdle muscular dystrophy subtype 2L (LGMD2L). My physician, a member of the Muscular Dystrophy Association, told me they would find out what I had. They were identifying new forms of the disease every year, and it was only a matter of time.

In 2010, researchers reached a breakthrough and found the 2L mutation on chromosome 11. It’s an autosomal recessive illness, meaning two defective genes are inherited, one from each parent. My doctor told me about the discovery in 2011. I recall thinking, “How do I research a new illness that’s never existed?”

My physician told me I should look for greater expertise than what he had. He primarily worked with children, and said that by Googling the illness, in a week I would know as much as he did. This was good advice and led me to someone who was on the cutting edge of some of the newer muscular dystrophy subtypes in adults.

My first physician was correct in that not much information was available. I remember looking up the diagnosis. Not finding much, I looked deeper. I had questions. What treatments and cures were out there for any type of muscular dystrophy? Was there hope? Were we nearing anything that could change the trajectory of this illness?

The answer, of course, is that there wasn’t any real information because treatments and cures didn’t exist. There was an occasional exception, such as with Pompe disease. Here, a treatment existed that helped. But options for others were nonexistent. Most of the hope focused on the future. Talk began to focus on treatments that could alter or fix the faulty gene.

This has changed in the last 10 years, and we are now much closer to life-changing possibilities. Gene therapy offers hope. Many groups are working on this in various ways. Most clinical trials are in the pre-clinical phase, but a few have started with human trials. Progress is happening every day.

Last November, I wrote a column about clinical trials and the importance of patients being prepared. This readiness meant getting into registries. This would allow us to be set for trials when they became available. In fact, I started the LGMD2L Foundation to establish a registry. But in the six months since I wrote that column, I’ve come to realize that we need to be doing more.

I was doing some work on this issue with a biotech company that asked the question, “What will 2L patients want or desire in terms of positive outcomes from a trial?” I was able to speak with a few people in the field about this. I learned more about the measures used for patient functioning. But I also learned that we, as MD patients, would be better served to use these tools ourselves. They offer us a way to document our illness and the rate of muscle loss or disease progression.

I am still learning, but the tool I like, which researchers use for a clinical trial I participate in, is ACTIVLIM, a measure of activity limitations for children and adults. I mentioned this to the biotech company as an idea to explore. I also think it is something I will incorporate into the LGMD2L Foundation website. Regardless of your MD diagnosis or subtype, everyone should look at some form of self-monitoring. It is a good idea to get a baseline for yourself.

I plan to use the descriptors in the ACTIVLIM system but take them further. I will add my own system of rating on a scale of 1 to 10. I also will add descriptions of the actual activities and what is most difficult for me to do. I plan to do this every four months.

Of course, none of this substitutes for having a neuromuscular specialist that you can see every year. My physician runs me through an intricate hour of testing and measuring. We look at each muscle group. But putting myself though a series of questions every few months allows me to see the subtle changes that sometimes are not noticeable day to day. These activities are daily living activities.

It is so important for us to have a full picture of our illness. If we can get every muscular dystrophy patient with a known diagnosis into a registry, and also have them understand their level of functioning, we will be in a much better place.

Clinical trials aimed at changing the trajectory of illnesses will be the future. And the future is upon us.

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Note: Muscular Dystrophy News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or another qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Muscular Dystrophy News or its parent company, BioNews Services, and are intended to spark discussion about issues pertaining to muscular dystrophy.

Ralph served as the executive director of the Florida Society of Clinical Oncology Foundation in 2016, helping to establish the organization and begin serving the community. Prior to that he worked for AARP, where he was a regional vice president for a decade and, prior to that, the Illinois State Director for four years. In his capacity as the Illinois State Director, Ralph led AARP Illinois in major legislative victories between 2002 and 2006, including the Older Adult Services Act in 2004. Before going to AARP, Ralph was executive director of the Berwyn Cicero Council on Aging. The mission of the organization is to assist adults over 60 in maintaining their independent living with the highest quality of life. He holds BS and MA degrees in psychology from Loyola University of Chicago and worked as a licensed clinical professional counselor in Illinois for three decades. He also holds an MBA degree from Regis University in Denver, Colorado. Ralph has served on numerous boards for nonprofit organizations and in 2018 founded the LGMD2L Foundation to help look for treatments and cures for his form of muscular dystrophy.
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Ralph served as the executive director of the Florida Society of Clinical Oncology Foundation in 2016, helping to establish the organization and begin serving the community. Prior to that he worked for AARP, where he was a regional vice president for a decade and, prior to that, the Illinois State Director for four years. In his capacity as the Illinois State Director, Ralph led AARP Illinois in major legislative victories between 2002 and 2006, including the Older Adult Services Act in 2004. Before going to AARP, Ralph was executive director of the Berwyn Cicero Council on Aging. The mission of the organization is to assist adults over 60 in maintaining their independent living with the highest quality of life. He holds BS and MA degrees in psychology from Loyola University of Chicago and worked as a licensed clinical professional counselor in Illinois for three decades. He also holds an MBA degree from Regis University in Denver, Colorado. Ralph has served on numerous boards for nonprofit organizations and in 2018 founded the LGMD2L Foundation to help look for treatments and cures for his form of muscular dystrophy.

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2 comments

  1. Sharon Cox says:

    I have a son who has Becker Muscular Dystrophy. He is in pain on a daily basis. It affects him to the point he can no longer work on a job. He has been trying to get disability, but they keep saying they deem him not disabled enough. We have found that there are no guidelines in the information of different diseases for disability. Why is that? Multiple Sclerosis has guidelines and Muscular Dystrophy affects just as many or more than those with Multiple Sclerosis. What does a person have to do to get disability for a muscle disease?

    • Ralph Yaniz says:

      Sharon, thanks for your comment. This is so difficult. I don’t know enough about the process but I can say that I was able to get on disability a couple years ago. I am now 61. I did use a lawyer from the start and would really recommend that. There are legal limits on how much they can charge you and they should be able to help make the case, with the doctors, if work is impossible. Hope this goes well. It’s so important. And after two years on disability you should be able to get Medicare.

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