Mak­ing a dif­fer­ence

Un­less a cure for Duchenne mus­cu­lar dys­tro­phy can be found, lit­tle Jack John­son prob­a­bly won’t live past the age of 25. His par­ents have set up a char­ity to fund re­search for vic­tims ev­ery­where.

Friday - - Contents -

Join­ing Jack in his fight

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

‘When your child comes home and doesn’t un­der­stand why he can’t play like the oth­ers, it’s dev­as­tat­ing’

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 Wigan­War­riors.

“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 RonnieWood, 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.

Time tri­als

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

‘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’

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

‘We’ve got four or five years yet to find some drugs that would mean Jack could lead a fairly nor­mal life’

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.

Jack with his par­ents,

Andy and Alex, and lit­tle brother James. He looks healthy de­spite hav­ing the at-present

in­cur­able disease

Bold first 3words it int eicienia a sed mos el­lanit et mosamusamus pe sam re cum rem a

mak­ing a dif­fer­ence 2012 Tour de France win­ner Bradley Wig­gins who supports the char­ity shows the Join­ing Jack sym­bol

The Join­ing Jack Rugby Sevens team show their sup­port

for the cause

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