Life & Style | People

'I’ll do anything to keep my little boy out of a wheelchair'

She almost miscarried their baby four times so when Alex Johnson spotted Jack struggling to get upstairs she feared something was wrong. She had never imagined it would leave their four-year-old battling not only to walk but to survive. Shiva Kumar Thekkepat meets them

  • By Shiva Kumar Thekkepat, Feature Writer, Friday magazine
  • Published: 13:49 August 13, 2012
  • Friday

Alex Johnson
  • Image Credit: Dennis B. Mallari/ANM
  • When they’re not raising funds and awareness, Alex and Andy spend their time with James and Jack.
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Maybe it was mother’s intuition, something only the woman who had carried and cherished a baby from the moment he was born could notice. Alex Johnson’s toddler son Jack looked as if he was struggling to climb the stairs, and couldn’t quite keep up with his little friends when they ran. It was almost imperceptible, but for Alex it was huge.

That’s why at 18 months old she took Jack to the doctor, who couldn’t find anything wrong. ‘He’s probably just a late developer,’ he said, and Alex and her husband Andy were reassured. There was reason for their concern - Jack had been born in January 2008 after Alex, 27, nearly miscarried four times during the course of her pregnancy.

They had just been so grateful for his safe arrival. So, they pushed their fears about their son’s progress aside, but then Alex noticed that he couldn’t stand easily and had to use his arms to push himself up.

“He had to pull himself by the railings to climb stairs,” says Andy, 37, a former professional rugby league player, who started his own clothing company after his sporting career ended due to back injury. That’s when Alex, a former model, went back to the doctor’s who this time referred Jack to a physiotherapist.

The expert’s questions put Alex on her guard. When the physio tested Jack’s strength, Alex knew something was wrong. Her comment about Jack’s large calves, that they’d just thought was his natural shape, created a mild panic.

The physiotherapist referred Jack to a paediatrician, but didn’t say anything else. Alex rushed straight home to research oversized calves in children on the internet. And there it was: Duchenne muscular dystrophy, a terminal, muscle-wasting disease.

The symptoms - which included clumsiness and difficulties in running and jumping – tallied, and Alex knew her worst fears were realised. “It was terrible, she knew Jack wasn’t going to get better, but both of us clung to the hope it might turn out to be wrong,” says Andy. “I couldn’t accept that fact that my boy, who was so active, getting me to join him in his games all the time, could be so ill.”

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He couldn’t live in a state of denial for long. Within days, blood tests and muscle tissue tests proved that Jack had Duchenne muscular dystrophy. It was heartbreaking. “It was such a shock, such a difficult time for both of us,” says Andy. “We were crying our hearts out, it was terrible.”

Duchenne muscular dystrophy is the most common form of muscular dystrophy and is caused by a faulty dystrophin gene. It is said to affect mainly boys. This gene helps the body produce dystrophin, a protein that helps protect muscles. If the gene is affected the body doesn’t produce dystrophin. Without it, muscle fibres start to break down and are replaced by fibrous and fatty tissue, causing the muscle to weaken. The first signs of the disease appear between the ages of one and three. The pelvis and legs are usually affected first, making walking difficult. By eight to 11 years, those affected are usually confined to a wheelchair.

Other muscles can be affected, too. Some children also develop learning and behavioural difficulties because of a lack of dystrophin in the brain. By 30, the condition can become life-threatening as it affects the heart and respiratory muscles. Around one in 3,500 boys is affectedy. Usually the faulty gene is passed on unwittingly by the mother through her ‘X’ chromosome, which carries the dystrophin gene.

Girls aren’t usually affected because they have two X chromosomes, and the X chromosome that is normal prevents them developing the condition. But boys have only one X chromosome. This time, it wasn’t Alex who was the carrier though - cruelly Jack’s was a random mutation, which sometimes happens. Faced with the facts, the Johnsons just caved in. “We just sat and cried, we didn’t leave the house,” says Andy. There was another reason for their extreme despair.

Alex was seven months pregnant with their second son, James. And there was every possibility of him being affected too, as they already knew the sex of the baby. The possibility could be ruled out only after he was born and had blood tests. The following months were anxious - both for Jack and their unborn son. It was a huge relief when they were told that James did not suffer from the disease. “And then we looked at Jack who was playing and it was all back again, the tearing up and despair,” says Andy.

But instead of hiding themselves away, grieving for their little boy’s health, they decided to start a charity foundation to fuel research into Duchenne muscular dystrophy. They launched Joining Jack earlier this year and have since been busy fundraising.

“At present there is very little awareness of DMD and research into finding possible treatments just doesn’t have enough funds,” says Andy. “However, over the past few years, with help from charities around the world, human clinical trials have begun to take place with encouraging results. It’s for this reason that we have set up our own charity, to help move things forward for Jack and other children like him.”

In June the family travelled from their home in Chorley, Lancashire, in the UK, to Dubai for a fund-raiser announcement. Why here? “We’ve always liked Dubai, we’ve been vacationing here for the last eight years, and we got married here too,” says Andy. So the big name ambassadors and supporters of Joining Jack – which include rugby legends like Jason Robinson and footballer turned actor Vinnie Jones – came to Dubai in June to raise money to find a cure for DMD.

Andy’s former Wigan team mates Shaun Edwards OBE, Andy Farrell OBE, Kris Radlinski MBE and Gary Connelly joined him to announce that Joining Jack had been invited to enter a team into this year’s Dubai Rugby 7’s and that Great Britain Rugby League & British Lion Rugby Union legend Jason Robinson would be a part of the team. A ‘Rugby Brunch’ organised at Media One hotel - who are officially hosting the Joining Jack members - netted Dh15,700 for the cause.

In the week leading up to the 7’s weekend at the end of November, a Celebrity/Amateur Golf Day would be held in Dubai to raise money and awareness. “This is just the beginning,’ say Andy. “We have a long way to go.” Alex and Andy spend every moment when they’re not fund-raising with their children, making sure they pack in as much as possible. “Jack’s cheeky, and a big softy at heart,” he says. “He loves to make dens, play hide and seek and wave his light sabre like a Jedi Knight. In a few months time he will start school and cannot wait for it. But how do we tell our beautiful son who does not yet know is that he has a terminal, incurable disease?”

Failing a medical breakthrough, Jack’s life will follow a predetermined path, mapped out by this progressive muscle wasting condition. “He will no longer be able to walk by the time he reaches adolescence and will lose the use of every single muscle in his body thereafter,” says Andy. “He may need spinal rods to keep him upright and ventilation to help him breath. Eventually his heart and lungs will fail and he will die.” Andy and Alex now dream of research producing a treatment that will prolongs Jack’s ambulation.

“If you take that he’ll be in a wheelchair between the ages of 8 and 14 and take the top end, then it gives him another 10 years to go,” says Andy, hope shining through. “Hopefully by then treatment would have progressed to retard the process. That’s our dream, to keep Jack on his feet. “One of the main reasons we have started this charity is that over the last five years good progress has been made in this field of medicine and with the help of better funding and sharing of data I truly believe that this research will turn into treatments soon for our son.”

And for that the couple is willing to travel the world to raise awareness and finances. “I am just a Wigan boy, so I started telling our town about it,” says Andy. “Then we came to Dubai, and we’ll continue to travel and tell everybody about this condition and what needs to be done. We’ve just done one per cent of what we have to do so far. But we know there is hope out there to help Jack and other boys like him — we just have to do whatever we can to find a treatment and a cure.’

Fact Box

Promising research for Duchenne muscular dystrophy Until recently, the only treatment for Duchenne muscular dystrophy has been steroids, which can help delay the progression of the muscle damage.  But now, research in the UK focuses on a gene therapy treatment known as exon skipping.

Exons are the sections of the human genetic code that determine the make-up of protein in the body. The dystrophin gene has 79 exons joined together like the pieces of a puzzle. People with Duchenne muscular dystrophy are either missing exons or the exons are duplicated, which prevents the rest of the gene from being pieced together.

Scientists have developed a way to ‘skip over’ the missing or duplicated exon by injecting tiny patches of molecules to mask the problem, so it’s ignored during protein production. The treatment, when it is cleared for use by the general public, will allow the rest of the gene to join up and behave like normal genes. “The research is at a really exciting phase,” says Andy. “What is required is funding, and that’s what we aim to provide.”

The effects

  • Most people with Duchenne muscular dystrophy are confined to a wheelchair between the ages of eight and 11
  • The pelvis and legs are usually affected first, causing difficulty walking. The first signs appear between the ages of one and three
  • In about one-third of cases the mother’s are not carriers
  • By 30, the condition can become life-threatening as it affects the heart and respiratory muscles

For information about the family’s campaign, and to donate visit www.joiningjack.org

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