A is for August & Awareness

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

Independence

I am so very keen that Eilidh becomes independent as quickly as possible so that you can explore her world and the beautiful world that she lives in.  I am keen for her not to develop learned helplessness.  I am keen to give her as many opportunities as possible.

Over the last few weeks I have been exploring the possibility of a manual chair for Eilidh.  As far as I can gather these are not frequently used in the UK, but are in America and especially in Scandinavia.  Eilidh has reasonable upper body strength and good truncal control at present and I can see no reason why she should not be able to use one.  Eilidh's physio has no experience of little ones in manual chairs and thinks that our local Rehab and Mobility Centre will provide us with a buggy only.  I am sure why this is the case and suggest that it may be that many disabled children under 2 will be cognitively impaired and therefore unable to self-propel themselves.  Unfortunately, to date, I have been unable to discuss this with a clinician at the centre.

Instead I have been in contact with other families on SMAspace who are using manual chairs and there has been mixed responses, but two chairs have been suggested  which are incredibly lightweight and suitable for Eilidh

The Panthera Micro from a Swedish company Panthera

and the slightly heavier Zippie Simba from Sunrise.

The good news is that we have reps coming over the next two days with both chairs for us to try out.  I'll keep you posted as to how we get on.

Of course, we would need to fund this ourselves at another £1500... D wonders whether we should be paying for a chair while waiting to fund raise for the Snappie, but what price can we put on Eilidh's independence?