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

Eden Kent, 21 yr. Recently obtained degree in Psychology. Lives with the condition Spinal Muscular Atrophy type 3

When did you first start experiencing symptoms?
When I started walking at around 18 months, my parents noticed that I kept falling over a lot. They took me to the doctor who initially diagnosed me with developmental hip dysplasia. After my parents came home, they researched this condition and realised that this was not right. They took me to a specialist that diagnosed me with muscular dystrophy, but he was not 100% sure about this diagnosis so I kept having additional tests and saw another specialist. He diagnosed me with Spinal Muscular Atrophy and referred me to Great Ormond Street Hospital where this diagnosis was confirmed.  

Has your condition progressed since then, and if so, how?
I have Spinal Muscular Atrophy type 3, which is a less severe form of the disease. I am able to walk short distances but for longer distances, I need a wheelchair due to muscle weakness and fatigue. My condition is stable and I can still do everything that I was able to do when I was younger. The only thing I would say is that, as I have grown, activities such as getting up from the floor myself have become harder. 

Which symptom(s) is most troubling for you?
Muscle weakness and fatigue are the most troubling symptoms for me. I can get around in my house, but when I go out, I need a wheelchair. I struggle climbing stairs, my balance is quite poor, and I can’t lift heavy things. On my really bad days, I struggle doing things with my arms such as combing my hair.

How has your diagnosis impacted your life and those around you?
When it comes to things like going out with my friends, I have to plan everything in advance for example if someone says: “Hey, let’s go to the beach” it is not as simple as me packing my things and going. I have to consider if there is accessible parking and if it is wheelchair accessible. Fortunately, I have very good friends and family that make sure that there are no barriers in the way of me participating in these activities. With regards to work, the condition means that there are some jobs that I cannot apply for, including active jobs where you need to be able to walk around. In general, I find that explaining my needs to people allows me to do most things. 

What specialist treatment have you received since your diagnosis?
When I was younger, I had a lot of physiotherapy and I used to go to hydrotherapy every Wednesday after school which was great because you can more easily move in water. I started Risdiplam, which is a SMN upregulating therapy, in February 2022. I was also offered Nusinersen, another SMN upregulating therapy, but I couldn’t commit to the travelling required for continuous intrathecal Nusinersen injections, so I opted for Risdiplam. I have not really noticed any changes to my condition after starting Risdiplam treatment, but my symptoms have not become worse. 

How has the SMA community supported you and your family? Which Patient groups are you involved / in contact with?
When I was younger, I participated in a few online calls with other young adults with SMA through The Young Adults Network (a UK charity). This really helped me because it was the first time I really spoke to other people with SMA. Since then, I have done a few things with the charity SMA UK. They have a podcast that they invited me to do an episode on where I shared my experiences with SMA to podcast: SMA Type 3 - Living with SMA. Around a year ago, I started an Instagram account @livingwithsma3, where I share my experiences with SMA and there I get a lot of messages from other people in the SMA community. A lot of times, it is the parents of a newly diagnosed child that reach out but there are also people my age who do as well. It is really nice to be able to talk about the condition and share your experiences. To hear that other people are experiencing similar symptoms normalizes everything.

What more can be done to raise awareness of SMA?
I think it is very important in general to have disabled people feature on television, magazines podcasts etc. to normalize disabilities. I do think it is very important to increase awareness to reduce stigma. I do experience times when people comment, for example, if I am not in my wheelchair and I use the disabled toilets. SMA is not always visible, especially for people with types 3 and 4 such as myself.  

What would be your advice for other individuals and their families who have just been diagnosed with SMA?
Research as much as you can and reach out to other people with SMA and charities. Learning more about the condition and hearing other people’s experiences are so important for normalizing the condition.