There are so many unknowns for rare disease patients and often nowhere to get the answers. Rare disease patients can be each other’s sounding boards and the best place to get real-life answers.
What is SMA?
I was originally diagnosed at the age of 1 and I was given the life expectancy of 5 years old. With that, my parents were told to take me home and enjoy the time that we have together. Every year we received after that was a blessing! I’m so incredibly grateful for the life that I have got to live. However, with my diagnosis came zero explanation. I fully understand that no one expected me to live past 5 but now that I have – all there is a lot of questions.
With not being given a lot of information about my disease, as a family, we didn’t do a lot. This is because we understood that nothing was going to change the outcome. Except no one told us that there was a way to avoid certain issues and maintain a comfortable lifestyle. I have always given my best in everything and I’ve always fought hard. It becomes so frustrating that I could have been doing something more but I didn’t know. I always say that I’m just living the best life I possibly can. That doesn’t mean I don’t want to try and be healthy and strong if that is possible.
Not only do we not understand my disease in its entirety, but they’re also doesn’t seem to be many people that do. There is a constant day-to-day frustration with trying to explain to people who should have some understanding about what you’re talking about and never seem to have any idea. Sometimes I feel like I’m explaining a Unicorn.
Questions
People often ask me questions about my disease and my life and sometimes I don’t have an answer. As I get older I have a lot of questions about my disease. I want to understand what I am going to do with my life. Researching my disease is pretty tricky because a lot of it is technical terms and research. What I wanted to know was about everyday activities and lifestyle.
I want to know things like do I have a future? Do people like me have families? Do people with SMA have successful lives? A lot of teenagers and young adults have a lot of questions about their futures. I’ve come to realize that you don’t always get the answers that you want because there is no book on how to live life. Life is similar for everyone in how it’s an adventure and a learning experience. You have to live to understand what living is about. I’m happy to be the answer to some of these questions for younger kids with SMA.
Finances
Don’t even get me started on how people can imagine how we are expected to afford everything that is suggested that can help. As much as we have come to understand that there are certain things we can do to prevent issues from getting worse – there are certain things we can do to make me more comfortable too. But – we can not afford all of it. The amount of money that assistant devices cost is unreal. Overseas you have several options for treatment that can halt the progression of SMA. Even if we could get those treatments here they would cost millions per year! Can you imagine knowing there is something out there that could help you but there is no way you can have it?
My family, friends and their friends have always supported all our fundraising attempts which have helped us so far in getting equipment to help me be more comfortable and while we appreciate that – it is extremely difficult to constantly ask people for money. I believe that as long as we are giving back to others less fortunate we are returning the favour that so many people have given us.
