Alex and Sam's Story
Spinal Muscular Atrophy Nine year old twins Alex and Sam Bolton are helping to raise awareness of children’s genetic disorders with the UK children's charity Genetic Disorders UK and their annual fundraising day, Jeans for Genes Day.
Sam and Alex Bolton, 9, are identical twins and were diagnosed at 18 months with the genetic disorder Spinal Muscular Atrophy (SMA) Type 2.
The twins have never walked, stood or sat unsupported. The boys' learning ability is normal. SMA is a neuromuscular genetic disorder that causes muscle weakness and progressive loss of movement.
This means the boys have limited physical strength and use powered wheelchairs to manoeuvre around the house and at their school (which is mainstream). As they have limited strength they can’t pick up anything heavier than a small cup of water, turn a door handle or sit without support.
Due to their intercostal muscle weakness they can’t cough properly, which means the boys often have pneumonia and need hospitalisation. A grant from funds raised on Jeans for Genes Day will go to Spinal Muscular Atrophy Support UK and will help fund the salary of a support services worker.
At six months old, Sarah Wilson first suspected something was wrong with her identical twins. Holding the twins upright on her lap she noticed the boys were unable to bear any weight. Instead of putting their feet down the twins both bent their knees up.
Sarah and the twins’ father Ian Bolton were reassured that the delay was due to their prematurity – they were born seven weeks early – and that they would catch up in their own time. However by the time they were a year old they still couldn’t sit up unaided and had no physical strength.
While they were physically delayed they met their developmental milestones in other areas – smiling and making noises right on cue.
By the age of 15 months they were referred to a hospital paediatrician and within three months they received the diagnosis of SMA.
SMA is a genetic disorder which occurs in one in every 6,000 - 10,000 births. Both parents need to be carriers of the faulty gene to pass it onto their child (carriers are unaffected).
For each pregnancy there is a one in four chance of the child having SMA. The diagnosis is confirmed by a blood test.
There are four main types of SMA. Types 1, 2 and 3 appear in childhood. Type 4 is diagnosed in adulthood, called Adult Onset SMA. The most severe form is SMA Type 1 with children rarely surviving their second birthday.
SMA Type 2 can be severely physically disabling although with the current standards of care survival into adulthood is nowadays expected. Indeed many young people and adults with the condition are living long and productive lives with health, social, educational and work support. Each person is different to the extent to which they are affected.
Living with Spinal Muscular Atrophy
When the confirmation came through that Sam and Alex did have SMA Type 2, it was devastating news.
Sarah recalls: “We took it dreadfully. It felt like our lives had stopped, but everyone else’s was still carrying on. Doctors told us that the boys’ life expectancy was much shorter than is factually correct for this condition.
“As a mum it is like bereavement. You are grieving for the child you don’t think you will have. It’s not the life I would have wanted for them.”
“The week they were diagnosed my sister and brother in law had been up all night researching SMA on the internet and they came across the Jennifer Trust (now named Spinal Muscular Atrophy Support UK). Through them we discovered that with the right management of care they can live right into adulthood. We felt much more positive after that.”
“I wouldn’t want to go back to those early years. When they were very young I used to check they were still breathing at night. The disorder affects the intercostal muscles and means the boys can’t cough properly so they have been hospitalised with pneumonia many times over the years. They have to be kept away from people with colds and infections.”
They do say ‘it’s not fair’ but I encourage them to focus on what they can do rather than what they can’t
Sarah adds: “The boys are now aged nine. They have movement of their muscles but they have limited strength and muscle weakness. So they can move their arms but they can’t pick up anything heavy. They can’t turn a key in a door and can’t open a door handle.”
“They have never sat unsupported or stood or walked. But they can write, feed themselves and power themselves in electric wheelchairs.”
Until the summer of 2013 Sarah was lifting the boys up to bed at night. Now the downstairs of their house has been adapted for ground floor living.
When the boys were six Sarah and Ian separated. Ian is in a new relationship and has since had a boy and his partner has a girl – step-siblings for the twins – and is still very much involved with the boys’ lives, having them stay every week.
Sarah says: “Our relationship definitely suffered. I didn’t have anything left to give Ian. My whole being was focussed on Sam and Alex. There is so much going on when you are the mum of two disabled children you don’t have time for yourself.
“In 2012 they had 48 appointments related to the condition. Last year in 2013 that rose to 72. Both have had spinal surgery to correct scoliosis and Sam has also had surgery to release tendons in his ankles.”
“It is hard for me to see that Ian has an able bodied son. Ian has said he felt guilty when his son started walking. Our boys will never walk.”
SMA is a progressive condition and the twins will most likely become weaker over the years. Intellectually they are completely on a par with their peers and have no delays to speech, intelligence or academic ability.
Sarah says: “Sam and Alex don’t know any different and while I wouldn’t have chosen this for them, I wouldn’t swap them. They do say ‘it’s not fair’ but I encourage them to focus on what they can do rather than what they can’t. They are very close and protective of each other. They have empathy for each other and no resentment.”
Sarah says she could not have managed without Spinal Muscular Atrophy Support UK for information, advice and support. She adds:
“Every four months we see an outreach worker, who feels like a friend. She helps with practical arrangements like ordering new wheelchairs and takes the pressure off.
“Through the charity I am able to show the boys the best case scenario of living with this genetic disorder. We can show people with SMA can have good jobs; they can drive around America and live life to the full. Those are the positives I instil in my boys.”
This year, Jeans for Genes Day is on Friday 19th September and invites everyone to wear their jeans to work or school in return for a donation www.jeansforgenesday.org