One mum’s an­guish

“My child needs life­long med­i­ca­tion that costs $5,000 a month”

Young Parents (Singapore) - - Front Page -

My hus­band and I dis­cov­ered we had some­thing else in com­mon this year, our fourth year of mar­riage – a bad copy of the same gene.

The odds of this hap­pen­ing are low, con­sid­er­ing that there are tens of thou­sands of genes in each of us.

My one-year-old son (pic­tured over­leaf) doesn’t just take af­ter my wavy hair and my hus­band’s loud voice. He in­her­ited two faulty copies of the same gene we had, giv­ing him a con­di­tion known as bile acid syn­the­sis dis­or­der.

It is an ex­tremely rare con­di­tion. Ac­cord­ing to doc­tors, it af­fects around five out of a mil­lion chil­dren. Aside from its symp­toms, lit­tle is known about its prog­no­sis as there are fewer than 50 re­ported cases in in­ter­na­tional med­i­cal lit­er­a­ture. And un­til my son, there has not been a re­ported case in pin­ga­pore.

The dis­or­der in­ter­feres with the pro­duc­tion of bile acids, such as cholic acid, which help the flow and ex­cre­tion of bile from the liver and as­sist in the ab­sorp­tion of fat and fat-sol­u­ble vi­ta­mins from food. tithout cholic acid, toxic bile acids ac­cu­mu­late and dam­age the liver, caus­ing it to fail ul­ti­mately.

then my son Christo­pher was four months old, we no­ticed that a scratch and a prick from a blood test left his nose and fin­ger bleed­ing for more than 30 hours.

His eyes and skin were also still slightly jaun­diced, and he was slow to gain weight, leav­ing him on the bot­tom of the growth chart.

te took him to hos­pi­tal, and as he went through tests over five days, we were also put to the test of watch­ing him strug­gle and be­ing bruised from blood tests, and get­ting so hun­gry he reached for a paci­fier for the first time. te were then told his liver was en­larged and had some scar­ring.

The night he stayed in the In­ten­sive Care rnit was the first time we slept with­out our son at home.

It was a painful time be­cause there were no clear an­swers then. oe­sults came only two months later in gune. Doc­tors told us lab tests done in the rp con­firmed that my son had bile acid syn­the­sis dis­or­der.

This is rare, I heard, over and over again. po rare that my son is the hos­pi­tal’s first pa­tient with the con­di­tion. A sec­ond hos­pi­tal told us he was its first such case, too.

The di­ag­no­sis is not the bleak­est. that he has is treat­able with life­long medicine, cholic acid – the only known treat­ment. Though trou­ble­some, that seemed doable.

But an on­line search floored us. The medicine that the hos­pi­tal rec­om­mended would cost at least rp$20,000 (p$2S,T00) a month. That works out to tens of mil­lions of dol­lars as my son has to be on med­i­ca­tion through­out his life.

Cholic acid is an or­phan drug, so-called as the phar­ma­ceu­ti­cal in­dus­try has lit­tle in­ter­est in de­vel­op­ing such treat­ments in­tended for a small num­ber of pa­tients.

Con­fused and wor­ried, we con­sid­ered a liver trans­plant as we thought it would be cheaper in the long run. But doc­tors ad­vised oth­er­wise as it could mean other com­pli­ca­tions.

te do not be­long to the poor­est of fam­i­lies, but the fig­ure was just stag­ger­ing.

How would we, and my son in the fu­ture, be able to af­ford the medicine? bspe­cially since he will need higher dosages as his weight in­creases. te heard that at 1S, the dosage will be five­fold.

The road ahead

The next few months were filled with fam­ily meet­ings, e-mails, phone calls about the medicine, cheaper al­ter­na­tives and how to get finan­cial help.

tell-mean­ing friends sug­gested crowd­fund­ing, but we thought that would not be sus­tain­able.

lur doc­tor said early treat­ment was vi­tal to en­sure no fur­ther dam­age to Christo­pher’s liver. In some cases, it is of lit­tle use if the med­i­ca­tion comes too late.

Af­ter a few weeks of re­search, we found two cheaper op­tions of the same drug from dif­fer­ent coun­tries. lne costs $10,000 a month, the other around $5,000.

tith our doc­tor’s en­dorse­ment, we got a rel­a­tive in Mel­bourne to buy a batch of the $5,000-a-month drug di­rectly from an Aus­tralian phar­ma­ceu­ti­cal firm and have a friend fly­ing back bring it over.

te did not want to wait an­other six weeks for the hos­pi­tal to bring in the medicine. It would also cost more through the hos­pi­tal be­cause of other costs in the pro­cure­ment process.

It was a stop-gap mea­sure, but our pri­or­ity then was to get our son the medicine he needed as soon as pos­si­ble. te are thankful that the medicine has worked. po many peo­ple have ral­lied around us in prayer and love, and I be­lieve this has helped us not to be too anx­ious.

Christo­pher is not just re­spond­ing well to the medicine, he is also thriv­ing and meet­ing mile­stones. For these we are thankful, and grate­ful that there is a treat­ment – even if the con­di­tion will never go away.

But the road ahead will not be easy. Af­ter a two-month wait, our ap­peal to the Med­i­ca­tion As­sis­tance Fund mlus, a sub­sidy scheme for high-cost medicine, was re­jected

’’I was not pre­pared for days which re­volve around med­i­ca­tion. Or hav­ing to fig­ure out how best to feed my son so he does not throw up the ex­pen­sive medicine.’’

on the ba­sis that the drug Christo­pher needs is not reg­is­tered with, or listed by, the Health pciences Au­thor­ity, and so can­not be con­sid­ered for any sub­si­dies.

It would cost a phar­ma­ceu­ti­cal com­pany more than $10,000 to ap­ply for the drug to be listed, and this can take years. It also would not make com­mer­cial sense if it is for just one pa­tient.

My son’s treat­ment is also not one of those ap­proved un­der Medis­ave, and it does not fit the Medi­phield Life cri­te­ria, de­signed to cover large med­i­cal bills dur­ing hos­pi­tal­i­sa­tion and se­lected costly out­pa­tient treat­ments such as kid­ney dial­y­sis, chemo­ther­apy and ra­dio­ther­apy.

My son is not cov­ered by any pri­vate in­sur­ance, al­though we hear that few, if any, plans would cover his life­long con­gen­i­tal con­di­tion.

te searched for clin­i­cal tri­als around the world for my son to join, but none were avail­able. te thought about sourc­ing for raw in­gre­di­ents and com­pound­ing the medicine our­selves, but doc­tors ad­vised against it.

bach time a door shuts in our faces, dis­ap­point­ment and fear creep in.

A life-chang­ing chap­ter

I knew rais­ing a child was not go­ing to be easy, but I did not think these chal­lenges would come so early in par­ent­hood.

I thought the ear­lier breast­feed­ing prob­lems were painful, but I did not an­tic­i­pate the deeper pain see­ing my son con­fined to a bed hooked up with wires and drips.

I had no clue that we would be spend­ing hours ev­ery month keep­ing hos­pi­tal ap­point­ments, draw­ing tubes of blood, hop­ing, then cheer­ing when we saw im­prov­ing liver en­zyme fig­ures.

I was not pre­pared for days which re­volve around med­i­ca­tion; sched­ules based on medicine-tak­ing. lr hav­ing to fig­ure out how best to feed my son so he does not throw up the ex­pen­sive medicine, and which sy­ringes work bet­ter.

I did not fore­see that we would have to speak to med­i­cal so­cial work­ers, tell them our bank ac­count bal­ances and how much we spend on food and di­a­pers.

I also did not think that the money – we’ve spent $S0,000 on Christo­pher’s con­di­tion so far – that we had been sav­ing for our fu­ture would be soon de­pleted.

I was not ready to re­ceive coun­selling about al­ter­na­tive op­tions for con­ceiv­ing a sec­ond child, who has a one in four chance of in­her­it­ing the same prob­lem from us.

The first year of par­ent­ing was noth­ing like what we thought it would be like. It has been like a storm, forc­ing us to re­think pri­or­i­ties and per­spec­tives.

te ac­cept that our son was given to us for a pur­pose that we do not fully un­der­stand yet. But the joy he brings is also be­yond what we ex­pected.

He was just 2cm when I first saw him on the ul­tra­sound, and heard his heart beat. I could hardly be­lieve I was car­ry­ing such a pre­cious eight-week-old gift.

kow he has crossed the one-year mark, and we love all 10kg and T4cm of him.

He squeals, laughs, smiles and has a lot of per­son­al­ity. He is a cheeky mon­key, loves mu­sic, and big open spa­ces where he is free to crawl at full speed.

He cries like he is be­ing tor­tured in any­thing that con­fines him, like the car seat and the high chair. He hates it, but is a champ at tak­ing medicine af­ter months of train­ing.

I told a friend re­cently that this first year has been so event­ful. “Life-chang­ing,” he cor­rected me.

That is a much bet­ter word, on sec­ond thoughts. Be­cause of the lessons my son has made us learn – to be more re­silient in the face of chaos, to cling onto hope when life springs hur­dles, and to be thankful for lit­tle bless­ings along the way.

that are the chances of some­one in­her­it­ing two faulty copies of the same gene? rn­likely, in the grand scheme of pos­si­bil­i­ties.

The lab­o­ra­tory re­ports and doc­tors de­scribe it as a ge­netic dis­or­der, some­thing that went awry dur­ing the cre­ation of life.

But it must have hap­pened for a rea­son. My son is not an er­ror – he was made spe­cial be­yond mea­sure.

It’s in his genes.

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