When you are sitting in a consulting room waiting for the consultant to explain why your child isn’t progressing as well as you might expect, or there is something visibly wrong but you don’t know what it is, a multitude of thoughts go through your head. Some of the questions you ask centres on what you might have done wrong yourself.
When it comes to a genetic condition the answer is simple, you have done nothing wrong. It just happens to be a twist of fate that means that you and your partner have come together and unwittingly passed on a condition that has collided with a given set of physical or statistical circumstances and triggered a fault.
In the case of SMA, the fault, mutation or even deletion all centres around a gene called the “Survival Motor Neuron” or SMN1 gene. Basically when two people have a child they could each unknowingly be carriers of the faulty gene, therefore when male and female XX / YY chromosomes come together, there is a mathematical one in four chance of producing a baby affected by SMA. The extent to which the gene is faulty determines the severity of SMA in the child, from SMA type I, II and II or even Adult Onset; the more the severe the diagnosis the more devastating the prognosis.
I should have paid more attention to biology at school
In SMA the SMN1 gene fails to produce the necessary proteins needed to drive muscles and as a result this can have a profound effect on just about everything the child can do. On getting this sort of diagnosis and sometimes very shocking prognosis, it is no wonder why the impact on parents can be so devastating.
As a result of the mutated gene the impact of SMA is staggering. It’s at this point when you start to realise that you should have paid more attention in human biology lessons in school. The profound effect of SMA is that apart from some clever bits that are not affected, like the brain, speech and communication, there is little else within the body that uses muscles that doesn’t need some level of external support.
50,000,000,000,000
Essentially in SMA the severity determines the impact, and that impact can be on arms, hands, legs, feet, sitting, standing, lungs and breathing, bowels, chewing and swallowing, spine – the list is long.
Being careful to choose my words, it’s fair to say that it affects everything we do to survive… Remember the name of the gene?
The impact of SMA is not just about ONE gene being affected, but it’s about that gene being affected in up to 50 trillion cells in your body, that is 50,000,000,000,000 copies of the defect in one person.
Therefore, it must be no surprise how something simple like one defective gene can cause so many complications.
So what’s the impact of this simple genetic fault?
As a matter of course everybody generally learns how to get up in the morning, get dressed, have breakfast and then go about their daily business, picking up these skills at an early age and developing them, usually by school age. In children who are affected by SMA, it’s not that they can’t learn these skills, it’s just that they can’t physically do any of them. The support needed from their parents and a potentially large team of individuals is massive.
In a very short time children and their parents will have a large support team around them who invade their daily lives, each of the individuals from Health, Education and Social Care will have their own specialism, some will communicate with others, others will stick doggedly to their own territory, all will and must have the child’s needs and wishes as their centre of attention but sometimes fail to see the cumulative load that is borne by the family.
A new world
Interventions become abundant and intrude on the daily routine; dressing, feeding, toileting, medication, stock control of medical consumables and medicines, specialist medical equipment, specialist furniture and housing adaptations.
Medical and other appointments start to take over the lives of the parents and a new ‘normal’ soon infiltrates daily life. All of this abnormality works its way into the schedule without taking into consideration the potential for frequent intensive respiratory management and prolonged hospital visits, the introduction of a gastrostomy or spinal surgery for example.
It is fascinating to take a step back a look at the new world that is created by such a VERY small, even microscopic twist of fate. The human, physical impact is significant, as is the impact on the family, community and everything it touches.
How is SMA treated?
It is surprising that the SMA gene was only really discovered in the 1990s, but since then there has been a great deal of movement in research. It seems apparent that 1 in 40 of us carry the gene that causes SMA. At present there is no effective treatment nor a cure for SMA and as a result it is considered to be the leading genetic killer of infants and toddlers. It is also considered to be a life-limiting/life-shortening condition.
Successful care and management is the key to good life outcomes and that relies on a great deal of effort from everyone involved.
Making all of this work
Thankfully there is support and guidance available which helps children their parents and those who support them. There is legislation available in Health, Education and Social Care which encourages local services to implement solutions to improve the well-being and lives of children, palliative care guidelines, continuing care guidelines, carers support, the Children and Families Act. All of these and more come together and sometimes merge to make the lives of children with SMA better.
We know too that the way legislation and guidelines are implemented across the country is mixed and one of the aims of Together for Short Lives is to raise awareness and improve standards across the country, to lobby for improved funding for support organisations who help families in the home or in children’s hospices.
We hope that by this small blog we have raised some questions about SMA and you are interested to find out more. For more Information about SMA visit:
www.smasupport.org.uk
www.smatrust.org.uk
If you’d like to find out more about genes and genetics, there’s some helpful information here:
http://genetics.thetech.org/about-genetics/what-gene
http://genetics.thetech.org/about-genetics/mutations-and-disease
Doug and his partner Sandra have two children – Ben and Emily. Ben is affected by SMA Type ll. Doug is also a Trustee for Together for Short Lives.
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