Spinal Muscular Atrophy (SMA) Patient Perspective: Our Clinical Trial Manager Thomas Grønnebæk caught up with Claus

Claus Jessen is 44 years old, works as data specialist/project manager and lives with the condition spinal muscular atrophy type 3

When did you first start experiencing symptoms?
When I began kindergarten around the age of five, my parents and teachers noticed that I did not have the same physical abilities as other kids and that I often fell. I have an older brother that also lives with the condition spinal muscular atrophy (SMA), so my parents suspected that I might also have this condition. I was then referred to specialists in Aarhus who were able to genetically diagnose me with spinal muscular atrophy type 3.  

Has your condition progressed since diagnosis?
I maintained walking ability until around the age of 20. Since then, the condition has progressed, and I now am fully reliant on a wheelchair to get around. Over the last few years, I have lost strength in my upper body, especially in the muscles around the shoulder and neck. I am still able to use my arms and hands for typing on a computer, eating and other essential everyday activities but I need assistance for activities such as getting dressed, cooking, turning around during the night, and I have personal helpers to assist me with these activities.  

What specialist treatment have you received since your diagnosis?
There are no available medical therapies for the treatment of adults over the age of 25 living with spinal muscular atrophy type 3 in Denmark. I have received physical therapy, and I also regularly swim in a warm water pool.

Which symptom(s) is most troubling for you?
Muscle weakness is the most debilitating symptom for me. The more recent loss of muscle strength in the arms and upper body is especially debilitating, as arm function is necessary for everyday activities and working. The loss of muscle strength and inability to move also means that I experience pain in my back and neck. I also experience muscle fatigue, which can be troubling, but the muscle weakness is what impacts me most on a day-to-day basis.

What are some coping mechanisms you have implemented day-to-day to manage the condition?
I have a positive and creative mindset that helps me a lot. I have a 3D printer and love to come up with ideas for things that can help me perform daily activities. For example, I had trouble turning the shower faucet, so I printed a small handle which now allows me to turn the faucet on and off.  

How has your diagnosis impacted your life and those around you?
As mentioned before, I am generally a positive person, and I try not to see limitations but rather possibilities. That being said, there are several things which I would like to do but either cannot do at all, or which can be very difficult due to muscle weakness. For example, I love outdoor activities and would have liked to be able to go hunting with my friends, however I am unable to carry a rifle. On a professional level, I am fortunately able to work, and it is very important for me to continue to be able to do so. 

What would your wish list for a new treatment for SMA include?
The most important thing for me is to not lose the functional abilities that I still have. This includes my upper body strength, which allows me to perform daily activities and work. Anything in addition to this would be a bonus. Although the route of administration and frequency of treatment would not prevent me from taking a treatment, anything that can be administered at home would be much preferred, as travelling to hospitals can be logistically burdensome.  

What are your hopes for the future of the SMA community?
That treatments for all types of SMA becomes available.

What would be your advice for other individuals and their families who have just been diagnosed with SMA?
To try to maintain a positive mindset and see possibilities, not limitations.