Tracy McCausland was shattered when son Sam was diagnosed with Congenital Muscular Dystrophy yet he’s remained healthy. She tells his incredible story to Stephanie Bell
A Northern Ireland teenager who was diagnosed as a baby with a rare form of a chronic muscle wasting disease has confounded medical science by displaying no symptoms.
Medical experts across the world are studying 13-year-old Sam McCausland, from Lisburn, who so far has beaten all the odds to enjoy a normal quality of life.
Sam is the only child in the world to grow up with Congenital Muscular Dystrophy (CMD) and not be adversely impacted.
When he was a baby his parents were given a terrifying prognosis.
Sam was not expected to be able to eat, breathe and walk unaided by the age of 10 because of muscle wastage.
A life-limiting condition, people with muscular dystrophy don't usually survive beyond their 20s.
His distraught mum Tracy's response was to set up a charity when Sam was a baby to fund research in a desperate race to find a treatment or cure.
Now 11 years on, her teenage son continues to baffle doctors by living a normal quality of life while his charity SAM (Struggle Against Muscular Dystrophy) has funded research to the tune of a quarter of a million pounds.
Tracy has learnt the hard way the importance of living each day to the full as she - and now also Sam's doctors - can't say for sure what the future holds for him.
The 48-year-old, who also has a son Callum (17), who has severe learning disabilities, describes it as like "living with a timebomb".
"Sam is such an anomaly," she says. "He has done so well and seems to be the only child with this diagnosis who can walk and run and climb.
"I'm so grateful for that, yet so terrified every time he stumbles or falls over. Every time he takes a growth spurt, no one can really give me a prognosis.
"He could remain able to walk for a long time or end up in a wheelchair next month.
"It's why I've learned to take each day at a time and live for the moment, making memories for and with him and Callum."
Tracy's world was shattered when Sam was first diagnosed with the condition at the age of 18 months.
She already had a three-year-old who was displaying signs of severe learning difficulties.
Callum has autism, speech and language disorder and dyspraxia which affects his gross and fine motor skills. Doing even the simplest of tasks that we all take for granted is a monumental effort for him.
Already dealing with fears for what the future might hold for her first-born son, Tracy and the boys' dad, William, who is managing director of fonacab, were shattered to be told their youngest child would be in a wheelchair by the age of 10 and was unlikely to live beyond his 20s.
"Sam had meningitis when he was born and spent his first two weeks in intensive care," she recalls.
"Because of that he was closely monitored by the baby clinic. When he was 18 months they suspected his motor skills were not on target and did a muscle biopsy.
"They discovered that he had an absence of the protein which scaffolds the muscles and that sent us off on a diagnostic odyssey.
"I asked 'What does that mean and what can you do to fix it?'
"They told me Sam was lucky he was able to hold up his head on his own as most other kids wouldn't be able to hold their bodies up, walk or stand.
"They said Sam had a rare form of a rare disease and nothing could be done to fix it as pharmaceutical companies don't consider it worth their while to invest in research.
"I felt doomed to this terrible prognosis. It was devastating. Callum was three-and-a-half years old and every day was revealing something different for him with his learning difficulties and now we were being told Sam's future was uncertain.
"I went to the darkest place I think a person can go. I felt as if I was drowning. Everything was dark and I couldn't see the point of me going on.
"It was really bad and it was my dad who pulled me back from it. I probably spent three or four months struggling with a sense of loss and despair."
Tracy emerged from those dark days after Sam's diagnosis stronger than ever and came back fighting with the launch of her charity fund SAM.
She also decided that she needed to stop focusing on the future for her boys and instead live in the moment with them and make every day count.
"I had to change my entire way of thinking," she explains. "I decided no matter what the future held I would do anything I could to make it as bright and good as I could and not let the fear stop us from enjoying today.
"I did feel a sense of hopelessness about research so I decided to set up SAM which is still going today.
"We have raised over a quarter of a million pounds to date and every single penny has gone to research. There is still no treatment though, but we keep on keeping on, it's all we can do.
"Sam has spent his life travelling back and forward to Newcastle-upon-Tyne every year to be examined by a team of specialists who specifically focus on the manifestation of the disease."
As the years went on doctors were baffled that Sam wasn't developing the symptoms that other children with the condition have. They did discover that the protein which children with muscular dystrophy lack was being produced in small amounts in Sam's body, but that still didn't explain why he appeared to have stabilised.
"Muscular dystrophy is a group of over 40 muscle diseases with various ages of onset and types of muscle weakness," Tracy explains. "Congenital muscular dystrophy is a subset of that, where the disease manifests from birth.
"As part of the diagnosis Sam had to have a biopsy and an MRI scan which both showed conclusively that he had CMD.
"However, his clinical presentation and the fact that he was able to walk and even eventually run puzzled the clinicians as other children with the disease were unable to hold up their heads, let alone sit unaided, and certainly were not ever in a position to hope that they could stand or walk.
"Also his DNA analysis showed only one genetic mutation and usually there are two, one from each parent. For many years Sam's case has been known of and discussed by clinicians from around the world.
"Various theories were postulated - that he might be a very uncommon 'manifesting carrier' or even that his body might be producing another unidentified protein that was acting as a substitute for the one that was missing - in that case he might even have held the key to a treatment for the disease."
Recent advances in DNA analysis have enabled scientists to do what is known as 'whole genome sequencing'.
Sam was one of the first to have his diagnosis refined by this new test, the results of which Tracy received just a few weeks ago providing ultimate confirmation that he has CMD.
"Thankfully it seems Sam's body is able to produce a small amount of the protein to allow him to be able to do the things he currently can," she says.
"It was really hard to see it in black and white after over 10 years of this horrible diagnostic odyssey. Sam is such an anomaly though - he has done so well and seems to be the only one with this diagnosis who has no symptoms."
A pupil of Wallace High School in Lisburn, Sam loves life. His mum says he is passionate about animals and nature, mad about Lego and gaming, loves exploring, walking, climbing trees and challenging himself.
His oldest brother Callum has recently found great satisfaction and purpose in a placement at 180 Restaurant in Portadown, a community-based scheme for young adults with learning disabilities.
Tracy is grateful that her eldest child now seems to have a purpose.
"It has been a godsend for Callum and I've seen him happy and motivated in a way he never experienced at school," she says.
"He has found lockdown a huge challenge as he wants to get back to 'work' with his friends and tutors. Sam is great with him and very tolerant of his big brother's challenges but it's an additional burden that he carries on top of his own diagnosis and what that might mean for him in the future.
"It's an awful lot for a 13- year-old to have on his shoulders. Sam has a tenacity and determination for life that I didn't have at his age. As for what the future holds? The truth is that no one knows, which is why holidays in their campervan and being outdoors, having fun as a family, remains their priority.
"No one can provide any certainty in terms of a prognosis, as Sam is so unique," Tracy adds.
"Not only does he have a rare disease, he has a rare form of a rare form of it.
"There are no other 'Sams' whose case history the doctors can really draw upon to give us a picture of what might happen.
"He might retain his ability to walk for many, many years - possibly even for a lifetime, or he may lose that ability as he goes through puberty.
"We just have to take it a day at a time."
Every year since SAM was set up 10 years ago, Magheralin man Lyle English has taken part in a sponsored walk to raise funds for the charity. This year the 70-year-old walked a full marathon during the month of June to raise funds for SAM. To date he has raised £13,000 for the charity.
You can support his efforts and fund research to find a cure for muscular dystrophy at justgiving.com/walkforsam2020