two candles by h0pefulmummy
August is gone now and the days take on an autumnal feel. August was Spinal Muscular Atrophy (SMA) awareness month in the States. Families of Spinal Muscular Atrophy has been coordinating a National Awareness Month for SMA since 1996. They hope that by raising the public's awareness of SMA they could realise increased resources for SMA research and better care for SMA patients. The sad truth is, the majority of people, including doctors, nurses and allied health care professionals, do not know about SMA until it directly affects them.
On Saturday 13th August people all over the States lit candles as the sun set to remember those lost to SMA and to give hope to those still living with the disease. I lit two candles that night - one for Eilidh and one for all the other children who have lived or who are living with this genetic disease.
1 in 40 of us are carriers.
As a doctor my first experience of SMA was in a neonatal unit; the baby boy had SMA 1. My next experience was sitting in a neurology clinic with my daughter, "She probably has a myopathy or a muscular dystrophy. It could be Spinal Muscular Atrophy." SMA doesn't happen very often in the lifetime of a doctor. In my lifetime, however, I see it every day.
Approximately 100 new cases are diagnosed each year.
Why don't we know more about SMA in the UK? To be honest, I'm not very sure. SMA is one of the most common life-threatening inherited diseases, second only to Cystic Fibrosis (CF) and yet we are very much more aware of CF as a disease and the affect it has on those who have it. 1 in 25 of us carry the cystic fibrosis gene; 1 in 40 the SMA gene. Approximately 260 babies are born each year with CF; 100 babies per year are born with SMA. In CF, as in SMA, in any pregnancy where both parents are carriers there is a 25% chance that the baby will have CF. Only half of those living with CF are likely to live past their late thirties: SMA affects individuals differently with SMA 1 children maybe living until they are 2 and SMA 2 children will perhaps live until adulthood.
So, knowing that Cystic Fibrosis and Spinal Muscular atrophy have similar genetics and that they are both life-threatening, I'll ask the question again, why are we not more aware of SMA in the UK?
It's a question I have asked myself frequently since Eilidh was diagnosed with SMA. There seems to be so little awareness of SMA within the general public but also, more worryingly within medical professionals and allied staff. What can we do to increase awareness, promote and fund research and raise money to support those living with SMA? I'm not sure; I need to consider this seriously and take action - small steps towards making a difference. Do you have any suggestions? Did you know anything about SMA before reading this blog? What do you know of CF? Are you surprised that so many similarities exist between SMA and CF? I certainly was when I read up on the hard facts. Now that I know though, how can I change our, the public's, way of thinking towards SMA? Let me think it over...
"As one person I cannot change the world, but I can change the world for one person."
Paul Spear
