This text might use words like disorder, medicine, therapy and othe medical terms. That doesn’t mean people with SMA are sick. We are as healthy as everybody else. Language can be limiting sometimes.

What is SMA?

SMAcomes from Spinal Muscular Atrophy. It’s a rare genetic disorder. When left untreated, it causes slowly progressing immobilization.

When you want to move any of your muscles, your brain sends a signal through your nervous system to your muscles. With SMA, that message stops either completely at the spinal cord, or is sent only partially through. “Spinal” in SMA comes from that. When the muscles don’t get any notifications to move, they lose strength, or atrophy, over time from lack of use. Hence “muscular atrophy”.

The actual fault is in the process of creating a protein called SMN. This protein makes signals move in your spinal cord. Most people have the genes and their backup copies to produce SMN. On people with SMA only the backup copies exist, and there aren’t even enough of those. The new medical treatments help increase the production of the SMN protein.

SMA is hereditary, but only recessively. That means the gene has to come from both parents, but neither of them may actually have SMA.

The amount of changes in the gene compared to a normal gene affects the level of the actual disability, meaning fewer changes mean less disabled person. Traditionally the types of SMA have been divided into I, II and III based on symptoms. Now there’s also type 0 (starts before birth) and type IV (starts in adulthood). The last two are rare in Finland. The difference between different types isn’t set in stone, and with the new treatments, exact type can be difficult to set. Treatments like Spinraza, Zolgensma and Evrysdi help with the symptoms.

SMA is found all over the world, so ethnic background or bloodtype don’t affect the chances of having a child with it. Every year a few children are born with SMA in Finland.

SMA II, the type I have

This is the intermediate form of SMA. According to some doctor, the ability to sit on your own at some point of your life means type II. Those with type I can’t even do this, and with type III you have been able to stand or even walk without support. If you can sit on your own at the age of 13, you can keep that skill for the rest of your life. SMA II doesn’t really progress anyway. Aging can make some muscles a bit weaker, though. Sometimes a single nerve can stop relying the message due to over-use or some other unknown reason. One of my fingers stopped working correctly some years ago. One minute I was able to push buttons with it and keep it bent, the next minute it was impossible. It hasn’t got any better, so I’ve learned to do those things in other ways.

Only the voluntary muscles are affected by SMA II, and the same goes for other types. The heart, the lining of the oesophagus (stomach and so on) and diaphragm for example aren’t affected at all or very little. The bigger the muscle the more it’s affected by SMA. For example, I basically can’t lift my arm from the shoulder at all, but my fingers still work properly. Back muscles also are weaker than normal, and this causes scoliosis, spine curvature. Usually this can be fixed to a certain point by attaching metal bars to the spine to keep it straight(er). There are a lot of different types of bars and attaching methods being used. I have two metal bars on my spine, and they go from my neck almost to my tail bone. I sit a lot straighter than without them, but still not totally straight. The brain isn’t a muscle, by the way, so just like any other muscular disorder, SMA doesn’t affect it at all. One doctor actually said once that people with SMA tend to be more clever than average. 😉

I use an electronic wheelchair (“power chair”) to get around. I have a “normal”, pneumatic wheelchair as well, but I use it mainly on trips and other inaccessible places. My electronic wheelchair is too heavy to be lifted and even one real step is too much for it. I live with my boyfriend in a regular rental apartment. My personal assistants (not care-takers, since they don’t have to take care of me) help me to do things I’m otherwise physically unable to do, like getting a book from a shelf or cooking. I can use a computer by myself and do other small things, which don’t require reaching or lifting. I’ve always attended the same schools as everyone else in my neighbourhood, and then I studied at the University of Jyväskylä. In class I’m just like other students, even though I can’t raise my hand properly. In short, I can read, write, talk and think by myself. Can you?

Now there are a few medical treatments for SMA. In Finland, the only medicine currently (October 2021) available is Spinraza. It’s an injection straight to the spinal cord. I don’t het it, though. Someone in Finland decided it’s only for under 18 year olds here, even elsewhere in the world it’s used by people of all ages.