The words hit the unprepared parents like a head-on collision. Their son, who over the past three years since entering the world had filled their lives with happiness, had just been given a medical death sentence.
Little Jack, with his big blue eyes and infectious laugh, tousled hair and cheeky smile, who weeks earlier had been running along the sandy beach in Dubai on a family holiday, had just been diagnosed with the incurable muscle-wasting disease, Duchenne muscular dystrophy (DMD).
“There is currently no cure,” the specialist elaborated, his terminal sentence hanging in the air between the parents, indescribable shock temporarily numbing tears that would soon fall incessantly.
Like all sufferers of DMD, unless a medical breakthrough happens in the next few years, Jack, who is five and already on preventative steroids, will slowly succumb to the devastating effects of his fatal condition. His muscles will degenerate until he is forced to wear leg braces. He’ll become wheelchair-bound, unable to feed himself and eventually won’t be able to breathe unaided. His life-expectancy is just 25.
“There are no words to describe the utter devastation felt upon hearing that your child’s life will be cut short because there is no cure,” Jack’s father writes on a charity website that he set up for the disease. “We have had the greatest pleasure watching Jack develop into the amazing boy he is today but now, unbelievably, we must prepare ourselves for his steady decline. And the worst part? Seeing him struggle as his body wastes away and being absolutely powerless to help.”
Duchenne muscular dystrophy is one of the most common fatal genetic disorders, affecting approximately one in every 3,600 male infants globally (females can be carriers but rarely exhibit symptoms), with 20,000 new cases reported annually in the developed world.
Caused by a gene mutation, sufferers fail to produce dystrophin protein in their muscles, a failure that leads to muscle deterioration. Symptoms usually start to appear in boys between the ages of one and six, with a steady decline in muscle strength evident from the age of six to 11. An enlarged heart usually becomes medically apparent by the early teens, leading to breathing complications and ultimately lung failure, which is usually the cause of death.
Early symptoms include learning difficulties, problems running or jumping and general muscle weakness, often beginning in the legs. It was this difficulty with motor skills that initially caught the attention of Jack’s parents, Andy, 38, and Alex, 28.
“Jack couldn’t walk upstairs like other children and had difficulty running,” says Andy. “We took him to the doctor and he was diagnosed after a muscle biopsy.”
The news was not only emotionally shattering, but also life-changing, and Jack’s parents have had to look on helplessly as their son, who loves school, building dens and playing with his Jedi lightsaber, slowly begins to have his quality of life disappear.
“To see Jack walking down the street you wouldn’t know there was anything wrong with him,” says Andy. “He was born like any other child and he does what other kids his age do, except when goes to the park he can’t go up the ladder to go down the slide. He falls over a lot so has bruises all over his legs.”
Although Jack is beginning to notice he isn’t as agile as his peers, Andy and Alex have decided to allow their son to enjoy his childhood without the full knowledge of his illness. However, they say they would never lie to him, and so feed him answers relevant to his age and his questions.
“As a parent, when your child comes home and doesn’t understand why he can’t play like the others, it’s absolutely devastating,” Andy says. “He obviously doesn’t know the extent of the condition or what will happen, but he knows his legs are poorly and Mummy and Daddy are doing everything possible to help.”
And the efforts to save their son and others like him have been valiant. From the moment Jack was diagnosed, his parents knew they couldn’t just stand by and allow their child to die without fighting, although Andy admits that he often stared out of the window in the first six months thinking, ‘Where do we go from here?’ “Every minute was like an ongoing car crash that you have to deal with,” he says.
The answer on how to move forward came in 2012 when the couple decided to set up Joining Jack, a charity whose mission statement reads, “Jack has Duchenne muscular dystrophy. There is no cure at the moment. We want to find a cure. We’re raising money to fund research to find an effective set of treatments to combat this condition. We want to make a difference to this generation of people living with DMD.”
Working hard for the cause
Andy and Alex work between 14 and 16 hours a day for the charity. Andy balances running his own signwriting business, while Alex also cares for their 18-month-old son, James, who thankfully tested negative for the condition.
The foundation funds research to find treatments that will ultimately combat DMD, a condition that still today few people are aware of. “Until this comes knocking on your own door you think this just affects other people,” says Andy. “But since Jack’s diagnosis, we’re aware of how many sufferers there are.
“DMD is something that needs resolving and needs close attention so those children can lead happy and fulfilling lives”.
The UK-based charity has so far been hugely successful in drawing attention to this relatively unknown condition. Sporting personalities, celebrities and the general public have all been eager to help. The first sportsmen to jump on board were rugby players past and present, but notably 2012’s Tour de France winner Bradley Wiggins also stepped in, showing tremendous support when he stood on the stage to pick up the cycling honour and made a Joining Jack symbol – interlocking the index fingers of both hands – to the world’s press in his moment of glory.
“Bradley lives about two miles away from us and is a very keen rugby league supporter,” says Andy, who starred for UK rugby league teams Huddersfield Giants and Wigan Warriors.
“When we asked for his help in promoting our cause, he didn’t hesitate to step forward.” And Wiggins joins a long line of high-profile names who have committed their support to Joining Jack via a series of videos on the charity’s website, with others including Rolling Stone Ronnie Wood, footballer-turned-actor Vinnie Jones, Being Human actress Lenora Crichlow and boxer Johnny Nelson.
“The support we’ve received has been incredible and people have done things without asking for anything in return; we’ve been overwhelmed,” says Andy. “The generosity of people from all walks of life has given us the strength to get out of bed in the morning.” Over the past few years, there have been several fund-raisers for DMD research organised by well-wishers from across the world.
With the work that has been undertaken by Joining Jack and other charities around the world, clinical trials have started, and they have had encouraging results. In the next week or so, Joining Jack has committed to funding two promising proposals, the first since the charity started fund-raising in 2012.
“It sounds like a long time to not fund anything, but it was essential that the money went to the right place and we didn’t fritter any away,’’ Andy explains.
“We’ve been waiting for the results from two technologies. They’re different ideas [exon skipping and upregulation of utrophin to replace dystrophin] but researchers believe they may stabilise patients. Trials have been ongoing over the past year or so, one has been extremely promising the other is in earlier stages but is also looking very promising.’’
Exon-skipping technology uses small pieces of DNA, which help the cell’s biological machinery to skip the faulty gene, allowing cells to produce some dystrophin protein. Although it is not a cure, it would reduce the severity of the symptoms, giving sufferers more functionality and ultimately positively impacting the length and quality of their life.
In the second idea, a gene that produces utrophin, a protein similar to dystrophin, during the fetal stage, can be genetically modified to upregulate the protein as a treatment for the condition.
“The money we’ve raised isn’t for Jack, it’s for research, and it’s to find a cure for all the boys like Jack,” Andy says.
The father of two is also keen to push for a shortening of the timeframe in which medication becomes available to patients in desperate need. “Drug-development timelines are too long and expensive – they need to be shortened when medication is shown to work and be safe,” insists Andy. “Currently drug testing goes through phases one, two and three, but after phase two, researchers can tell if a drug is safe or not, but they then go on to phase three for two or more years in keeping with the drug regulations. In those two years a boy might lose the ability to walk or feed himself. The timelines are ridiculous.”
And scientific breakthroughs have understandably become something of a roller-coaster ride for the Johnson family, with Andy admitting to feeling mixed emotions as he keeps an eye on medication being developed to combat the disease.
“Sometimes you’ll have a great day when some new breakthrough is announced and you ride that wave and take the family out for a meal to celebrate and capture the moment,” he says. “Other days things don’t go well when you hear that certain research has been stopped or proved fruitless. But we have to hope that over the next 12 months there will be news confirming results on some miracle drugs.”
In the meantime, while the positive trials continue for the two treatments, Jack must use steroids to reduce inflammation and delay the onslaught of muscle degeneration. It is widely accepted now that when used in boys who are still walking, steroids may temporarily stabilise and improve muscle strength. Not all boys respond the same, however.
“They can come with horrific side effects like cataracts, weight gain, mood swings and brittle bones,” says Andy. “But up to now we have only seen the positive effect. Jack’s been on them for six months and his running has improved, he seems to have a little more strength in his legs, he hasn’t gained any weight. They will keep him on his feet for potentially another two to three years longer.” Precious time that is desperately needed while the clock ticks to find a cure. “It’s positive and gives us that window of time to find something that’s better,” Andy adds.
Raising awareness to meet medical needs
The Joining Jack rugby side will be arriving in Dubai this month to raise awareness at the Emirates Airlines Dubai Rugby Sevens.
Andy will be leading an all-star team with some of the biggest names in British League and Union, including Jason Robinson, Martin Offiah and Paul Sculthorpe.
“We made a big impression last year, raising awareness about DMD and we really want to build on that again,” Andy says. “We need people to know that it’s an unmet medical need, not just in Wigan, not just in the UK, but the world over.”
Bradley Wiggins will also be attending a series of fund-raising events at the Media One hotel, including a barbecue and the chance to head out on a bike ride with the man himself.
Although the constant fund-raising and charity events to raise awareness keeps Alex and Andy busy, the reality of their son’s condition is still very much there for the couple.
They’re working tirelessly to put DMD on the map, improve research and ultimately extend and improve the lives of all the little boys like Jack, but the harsh reality is that perhaps that won’t happen in their son’s lifetime.
“We probably don’t cry as much as we used to but it still hurts as much,” his father says. “The day of telling Jack frightens us a lot, the day we have to sit him down and tell him it doesn’t get better like a scratch on his knee. Its how Jack deals with that and how we deal with that. It’s not something we would wish on anybody.”
However, putting on a brave front as much for himself as for his family, Andy adds, “I think we’ve got four or five years yet to find some really promising drugs that would mean Jack could lead a fairly normal life.”
Like the Joining Jack symbol, everyone has their fingers crossed.