Shaping Change Through Challenges: My Life with Spinal Muscular Atrophy Type 3

‍When did you first start experiencing symptoms?‍

When I was a young child, I ran funny, sat frog-legged, was not as fast as others, and had more difficulty getting up off the floor. When I started driving, I had to slap my leg to get it to go onto the clutch—all signs of something being wrong—but because I was told I had dodgy knees, I did not think there was anything more to it than that.

‍How did you go about seeking a diagnosis?‍

My orthopaedic surgeon referred me to a neurologist. He sent me for a nerve conduction test and a muscle biopsy. It was this clinician conducting the tests that suggested to my neurologist that I be genetically screened for SMA.‍

How long did it take for you to receive a diagnosis?‍

From that initial appointment with the orthopaedic surgeon, it was less than a year. But if you consider that I had some signs present from early childhood, it took over 25 years.

‍How did you feel when you received your diagnosis?

‍I felt it was a case of being diagnosed and dumped. There was no referral to a support group, there was no treatment plan, and there was no recommendation on how to stay as strong as possible for as long as possible. The only appointments with the neurologist were to monitor the progression of the disease. The diagnosis itself was tough, but it was the reliance on Google for information that was more challenging.

‍How did you communicate your diagnosis with your loved ones?‍

I did not tell many of them for a very long time. I struggled with admitting weakness, but now I see opening up as a strength. For some family members, they did not know for years.

‍What treatments have you undergone and how have they impacted you?‍

I have recently moved my family to Australia to access treatment. It is still early days, but I have shown increased strength in the assessments to date. I think the biggest impact is feeling that I am worthy. In New Zealand, I felt like I had to beg and still be told no.

‍What is the most difficult part of your treatment, and how do you manage it?‍

To be honest, having access to any treatment is a privilege. It is a lifeline, and no matter how difficult it might be, I will embrace it as a positive.

‍What has been the most challenging aspect of living with your condition? 

There are a few things. Ultimately, knowing that it is a progressive disease is tough. We all age and get weaker, but my condition has me at a much weaker base. I want to be able to live my life to the fullest, but I do not know when this condition will put some serious restrictions on that. Another biggie is that it has stopped me from being able to play sports. I love sports and am highly competitive. I played just about every sport under the sun growing up. Cricket, basketball, netball, soccer, tennis—I loved it. I never had the pace, but over time I got weaker and slower and could not participate anymore. Besides that, it is the impact of having to think about everything. Can I get up from that chair? Can I step up to that step? It is much easier now that my kids are slightly older. I used to always worry with them as toddlers, as they could outpace me, and I would panic if they were too far ahead, worrying about cars, them falling over and not being able to get to them quickly, etc. I could not rely on my body to help me keep them out of harm's way.

‍How has your daily life and routine been affected by your condition?‍

I am lucky, to be honest. I am still strong and able to live independently, work full time, and care for my family.

‍How has your condition affected your mental health and emotional well-being?‍

It has been quite a journey. I have certainly had my moments of grief with it all, but I have focused my efforts and energies on what I can control—supporting others. I went from keeping my condition to myself to being as open and transparent as possible to advocate for others. I got myself to a point where I felt that I was blessed with SMA to lift the curse off others. What I mean by that is that I could advocate for my community and fight for medicine access in New Zealand. I never have been one to sit quietly when there is an injustice. I know this condition inside and out, and I have a voice, so my focus was on that.

“I went from keeping my condition to myself to being as open and transparent as possible to advocate for others.”

‍What strategies have you found helpful for managing your emotions and thoughts?‍

I turn my emotions and thoughts into actionable steps. What can I control, how can I make a change, and what do I need to do. Of course, there are days when I feel sorry for myself, but that is part of what makes me a human. To feel joy, you need to know sadness. Life is tough, and it can throw some serious stuff your way. You need to know that your body is designed to take some hits, but your head and heart can help you navigate a better path. I also find talking helpful. Being alone with your thoughts when you are in a sad place is okay, but for me, not for extended periods. I need to be around people; I need to feel like I have a purpose; and I need my cup filled. Being around others is energising for me.

‍How has your diagnosis impacted your relationships with your friends and family?‍

I do not think it has.

‍What support systems have been helpful during your health journey?‍

I have found that supporting others with the condition has been most helpful. Since moving to Australia, I have had more support in the 9 months here than I have had in my 10+ years post-diagnosis in New Zealand.

‍What advice would you give to someone who has recently been diagnosed with your condition?‍

I would suggest that they connect with others in their community in their own time. There is no rush to do it, but it can help to understand. The internet can provide you with a lot of scary insights into SMA, but the reality is that the landscape now is so much brighter than it was. There is an amazing community and wonderful organisations internationally doing great things. I found the CureSMA conference in the USA amazing for connecting with others with the condition (as it is a rare disease) and for meeting clinicians and researchers at the head of the game in this space.

‍What advice would you give to your past self if you had the opportunity to go back in time? 

To treat my body a bit kinder and make healthier decisions sometimes. This body of mine has served me well, all things considered.

‍How can others be more supportive and understanding of people with your condition?‍

I do not think this is condition specific. I think people generally have good intentions, but sometimes they may need to be a bit more inclusive in their thinking. When I think about the young children with SMA and inclusivity, they do miss out a lot.

‍Find support and learn more about Spinal muscular atrophy (SMA), click here.

Looking for support and resources as a fellow Spinal muscular atrophy (SMA) warrior? Click here.

Find a support community and more information on Spinal muscular atrophy (SMA), click here.

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Disclaimer: Please be aware that the content of this patient story, is solely the viewpoint of the individual(s) involved and should not be considered as medical advice.