Walk­ing with faith

Au­gust is Spinal Mus­cu­lar Atro­phy Aware­ness month, and the Lims have made it their mis­sion to sup­port their son and oth­ers cop­ing with this dis­ease.

The Star Malaysia - Star2 - - Front Page - By S. INDRAMALAR star2@thes­tar.com.my

ON De­cem­ber 23 last year, Yap Sook Yee, 42 and her hus­band Ed­mund Lim, 43, re­ceived the best Christ­mas “gift” – news of a newly-ap­proved drug which could treat spinal mus­cu­lar atro­phy (SMA). It brought them joy and hope for it could im­prove their son’s qual­ity of life.

Their seven-year-old son, Bran­den, was di­ag­nosed with SMA when he was a year old, and isn’t able to sit or stand with­out sup­port. He needs con­stant care and a com­bi­na­tion of phys­i­cal and oc­cu­pa­tional ther­a­pies to help him main­tain func­tion and mo­bil­ity as the dis­ease pro­gres­sively weak­ens him. He wears a brace to sup­port his spine and goes on a Cough As­sist Ma­chine daily to help him ex­pel phlegm from his chest as he isn’t strong enough to do it on his own.

The new drug, nusin­ersen, could give Bren­dan a new lease on life.

But the “mir­a­cle” drug costs a for­tune: US$750,000 (RM3.2mil) for the first year and US$350,000 (RM1.5mil) a year sub­se­quently. At the mo­ment, it is be­ing ad­min­is­tered only in the United States and Europe but the de­ter­mined cou­ple is hop­ing to gar­ner enough sup­port to lobby for it to be brought to Malaysia to treat chil­dren and adults with the deadly dis­ease.

“It’s the third most ex­pen­sive drug in the world right now but it’s the only drug in the mar­ket for SMA. We are try­ing our best to ad­vo­cate for clin­i­cal tri­als at our hos­pi­tals,” says Lim.

While the drug isn’t a cure, it can al­le­vi­ate or delay symp­toms of the de­bil­i­tat­ing dis­ease, which pro­gres­sively robs pa­tients of mus­cle con­trol, leav­ing them un­able to walk, talk, swal­low, cough and even­tu­ally, breathe on their own.

There are four types of SMA. The sever­est, Type One, is usu­ally di­ag­nosed in the first six months of an in­fant’s life, and the sur­vival rate is be­low two years. About 60% of all SMA cases fall un­der Type One. (See side­bar)

Bran­den was di­ag­nosed with SMA Type 1b and doc­tors said his mus­cle strength would weaken pro­gres­sively in time.

He has missed many de­vel­op­men­tal mile­stones other chil­dren take for granted; he has never been able to roll over, crawl or walk, and he sits up with the sup­port of his brace in a cus­tom-made wheel­chair.

“We can­not af­ford to delay do­ing some­thing be­cause chil­dren with SMA only have a cer­tain num­ber of years (to live). This drug will help them fight their battle and have more time. It will give them an op­por­tu­nity.

“But we can’t do it alone. We are try­ing re­ally hard ... talk­ing to doc­tors, to cor­po­ra­tions and all the var­i­ous stake­hold­ers to get on board with this,” ex­plains Yap.

The cou­ple was in Sin­ga­pore early this week for the 16th Asian and Ocea­nian My­l­ogy Cen­tre’s an­nual sci­en­tific meet­ing to share their ex­pe­ri­ence in caring for Bran­den. While there, they met with health­care con­sult­ing groups and Bio­gen, the com­pany mar­ket­ing the new drug, to ex­plore pos­si­bil­i­ties of mak­ing it ac­ces­si­ble to Malaysian SMA pa­tients.

They also have a pe­ti­tion go­ing – ini­ti­ated by Aishah Roose, 20, who has SMA (Type 3) – to urge the Health Min­istry to bring the drug in.

Lim and Yap are painfully aware that bring­ing the drug into Malaysia may take a long while. But they are de­ter­mined to keep at it.

In the mean­time, they have made it their mis­sion to ad­vo­cate for fam­i­lies af­fected by SMA through their non-profit or­gan­i­sa­tion, We Care Jour­ney.

Han­dle with care

Caring for a child with SMA re­quires round-the-clock at­ten­tion. Lim and Yap have quit their jobs to fo­cus on giv­ing their sec­ond-born the best life he could pos­si­bly have with­out ne­glect­ing their el­dest son, Jaden, who is 10.

“I don’t want to won­der later on if I’d done the best for ei­ther of them. We’ve had to change our life­styles quite a bit and do things dif­fer­ently, but that’s a small price to pay,” says Lim.

Bran­den has de­fied the odds in many ways, mostly be­cause of his par­ents’ re­lent­less ef­forts to give him the best care they could find. He is cheery and talk­a­tive, with an in­fec­tious megawatt smile. He reads and paints and goes to a kin­der­garten two days a week. On an­other two days, he video calls his school from home.

“When Bran­den was di­ag­nosed with SMA, we were dev­as­tated and lost. We didn’t know what to do, where to go or who to talk to. But we knew that time wasn’t on our side as the av­er­age life ex­pectancy for a child with SMA Type 1 was about two years. We knew that we needed to ac­cept his di­ag­no­sis re­ally quickly and do as much as we could for him.

“We fo­cused on find­ing out where we could get him the best care. We started read­ing about the dis­ease. An or­gan­i­sa­tion abroad mailed us a care pack­age with in­for­ma­tion on how to care for our son,” shares Yap.

They have con­tin­ued to learn about SMA and caring for Bran­den. Most of their in­for­ma­tion are from for­eign sources as there is lit­tle on the ser­vices and prod­ucts avail­able lo­cally for chil­dren with SMA.

Their ex­pe­ri­ence prompted them to set up We Care Jour­ney – a non-profit or­gan­i­sa­tion to em­power and help fam­i­lies with SMA cope.

“We started We Care Jour­ney to pro­vide a plat­form for fam­i­lies to get in­for­ma­tion, ask ques­tions, get sup­port and en­cour­age­ment. Af­ter Bran­den was di­ag­nosed, we read many on­line sto­ries of chil­dren with SMA who had lived past the two-year mark and were do­ing very well. This gave us hope and we want to share this hope with other fam­i­lies,” says Yap.

The four pil­lars of We Care Jour­ney are con­nect­ing fam­i­lies with SMA and other dis­abil­i­ties to care and sup­port, cre­at­ing aware­ness, pro­mot­ing re­spon­si­bil­ity and em­pow­er­ing af­fected fam­i­lies.

Reach­ing out

Through We Care Jour­ney, Lim and Yap hope to in­crease the stan­dard of care for SMA. With funds they sourced from the pub­lic, We Care Jour­ney has started loan­ing out med­i­cal equip­ment to needy fam­i­lies.

Five-year-old Muham­mad Hazim Mohd Hafiz, who was di­ag­nosed with Type Two SMA, is one of the re­cip­i­ents of a Cough As­sist Ma­chine.

Chil­dren with SMA usu­ally need help breath­ing as their res­pi­ra­tory mus­cles are weak, and they con­tract pneu­mo­nia eas­ily. Hazim has been ad­mit­ted to the hospi­tal 10 times be­cause of pneu­mo­nia.

His mother, Nu­rul Na­dia Ab­dul Rah­man, says the Cough As­sist

Ma­chine has made a vast dif­fer­ence in Hazim’s well-be­ing.

“We re­ceived it in March and it has helped clear his lungs. His breath­ing used to be noisy but he now breathes eas­ier,” says Nu­rul Na­dia, 32, who lives in Sun­gai Pe­tani, Kedah, where there is no res­pi­ra­tory spe­cial­ist.

Nu­rul Na­dia found We Care Jour­ney when she went on­line to seek help when her son was first di­ag­nosed with SMA. The Lims have helped Nu­rul Na­dia and her hus­band, Mohd Hafiz Mohd Hanif, cope with the chal­lenges of caring for their son.

“They re­ally helped me. The doc­tors kept telling us how hard it would be ... how his con­di­tion would just get worse. I was des­per­ate to know how I could help Hazim. Sook Yee told me all that she has been do­ing with Bran­den and how he has pro­gressed and this re­ally in­spired me. I felt I could do it too.

“I quit my job and fo­cused on caring for my son. This kind of sup­port is cru­cial for par­ents of chil­dren with SMA. Sup­port is re­ally lack­ing here, es­pe­cially for fam­i­lies who can­not af­ford to stop work­ing. What do they do?” says Nu­rul Na­dia, who is a trained en­gi­neer.

Preven­tion and early di­ag­no­sis

In Malaysia, about 50 ba­bies are born with SMA ev­ery year. One in ev­ery 50 per­sons is a car­rier and in most cases, they do not know it. Car­ri­ers of the de­fec­tive gene are not af­fected and have no symp­toms of the con­di­tion. But if a cou­ple are both car­ri­ers, their off­spring has a one-in-four chance of in­her­it­ing two re­ces­sive copies of the SMN1 gene which will re­sult in them de­vel­op­ing SMA.

Al­though it is a rel­a­tively rare dis­ease, Lim and Yap be­lieve that preven­tion is key.

“SMA should be a stan­dard test that cou­ples take be­fore they de­cide to start a fam­ily. Cur­rently, many check for Down’s Syn­drome and Tha­las­saemia.

“No par­ent wants to pass any dis­ease to their child. If they know they are both car­ri­ers, there are ways to en­sure their ba­bies do not de­velop SMA,” says Lim.

Cre­at­ing aware­ness among the pub­lic is also cru­cial.

“If peo­ple know the sta­tis­tics, they will re­alise how im­por­tant it is to get tested,” he says.

Early di­ag­no­sis is im­por­tant too. Be­cause of the lack of aware­ness about SMA among health care­givers and the pub­lic, di­ag­no­sis is largely de­layed. De­vel­op­men­tal de­lays are of­ten brushed off be­cause “some chil­dren de­velop slower”.

It took sev­eral vis­its to sev­eral pae­di­a­tri­cians be­fore Bran­den and Nazim were di­ag­nosed with SMA.

“We need to in­crease aware­ness and en­cour­age pri­mary care clin­i­cians to test for SMA when they come across chil­dren and in­fants with the symp­toms of the dis­or­der. Par­ents who are aware can also ask for tests to be done,” shares Lim.

Malaysia also needs more ad­vanced care and pal­lia­tive care ser­vices for SMA pa­tients. Fam­i­lies need to be sup­ported and ed­u­cated not only about the chal­lenges of caring for an SMA patient but about all the things they can do to make their child’s life bet­ter.

“We were told by doc­tors that caring for Bran­den was go­ing to be very tough ... that we should fo­cus on our healthy child.

“There is re­ally very lit­tle sup­port. It is chal­leng­ing. It is hard and par­ents need to know this, but they should also ed­u­cate par­ents on what they can do,” says Lim.

We Care Jour­ney is or­gan­is­ing Ride for SMA, a Whee­lathon on De­cem­ber 31 to raise funds for fam­i­lies with SMA and raise aware­ness about the dis­ease. Their theme is “Where there’s a wheel, there’s a way”, and it is open to every­one. Come in your bi­cy­cles, skates, roller blades, wheel­chairs or scoot­ers. To regis­ter, go to we­care­jour­ney.org. For more in­for­ma­tion, con­tact Poh Choo at 012-278 0339 or Eric Yap at 012-323 8085.

Photo: IZZRAFIQ ALIAS / The Star

Bran­den and his big brother Jaden share a spe­cial bond. — Pho­tos: IZZRAFIQ ALIAS / The Star.

Yap quit her job to fo­cus on caring for Bran­den who was di­ag­nosed with SMA when he was one.

In­spired by his son Bran­den, Lim is de­ter­mined to cham­pion SMA care and sup­port in Malaysia.

Yap (left) and Lim have started We Care Jour­ney, a non-profit or­gan­i­sa­tion to sup­port fam­i­lies with SMA and ad­vo­cate for bet­ter care and sup­port for them.

Five-year-old Hazim with his par­ents Nu­rul Na­dia and Mohd Hafiz. — NU­RUL NA­DIA AB­DUL RAH­MAN.

Lim wants to give Bran­den the best life he could pos­si­bly have.

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