When Sam Carlisle’s daugh­ter Elvi was two, she was di­ag­nosed with a rare ge­netic con­di­tion that would go on to cost Sam her free­dom, her mar­riage and her high-fly­ing ca­reer. As Elvi turns 16, Sam shares what she learned in the process

The Mail on Sunday - You - - In this issue - Chris O’Dono­van PHO­TO­GRAPHS

A mother on the great losses and lessons of her daugh­ter’s dis­abil­ity

My daugh­ter should have taken her GCSEs this year. But in­stead of pres­sur­ing her to re­vise and get off Instagram, I let her stay up all night, watch­ing ter­ri­ble TV and eat­ing junk food, ex­hausted but cher­ish­ing each mo­ment we have to­gether. Nor­mal rules don’t ap­ply to Elvi. They haven’t since our gor­geous girl was di­ag­nosed at 30 months with an ex­tremely rare ge­netic dis­or­der nor­mally fa­tal by the age of two.

At the time of Elvi’s birth I was a high-fly­ing jour­nal­ist, pro­moted through the ranks at The Sun. I had just been made fea­tures ed­i­tor, an in­cred­i­bly de­mand­ing job but one I loved and was keen to go back to when Elvi was six months old. My Aus­tralian hus­band Damian ran his own con­sul­tancy busi­ness from home and we had a fab­u­lous nanny. I was de­ter­mined to bal­ance my ca­reer with be­ing a great mum.

There was just one is­sue. A mid­wife no­ticed that Elvi was ‘fail­ing to thrive’ be­cause she wasn’t gain­ing weight or reach­ing early mile­stones. As we watched other ba­bies her age sit up, crawl, then walk, Elvi just lay on her play­mat, happy but seem­ingly frozen in time.

It took two years for the doc­tors to fig­ure out what was wrong. I was alone at work early one morn­ing when an email came through from Elvi’s con­sul­tant at Great Or­mond Street Hos­pi­tal. He stated mat­ter- of-factly that her biopsy re­sults re­vealed it was likely she had the ge­netic con­di­tion rhi­zomelic chon­drodys­pla­sia punc­tata (RCDP). There was no ex­pla­na­tion of what it was.

I im­me­di­ately ‘Asked Jeeves’ (Google was in its early days then), which threw up med­i­cal pa­pers with grim x-rays of mis­shapen chil­dren’s skele­tons. Amid the med­i­cal jar­gon, the words ‘dwarfism’ and ‘in­fant death’ leapt out at me. In an in­stant my life changed. I started sob­bing and couldn’t stop, even when Damian re­as­sured me over the phone that we would get through it.

I strug­gled through that morn­ing’s meet­ings. Af­ter­wards the deputy ed­i­tor called me into his of­fice and asked if I was OK. I ex­plained what had hap­pened, but he had no idea how to re­act to the red-eyed, bro­ken woman in front of him. ‘Would you like to go home?’ was all he man­aged to say. Know­ing I had to work harder than the men in my male-dom­i­nated in­dus­try, which meant I had never taken a day off sick, I fool­ishly shook my head and for the first time ut­tered a lie I would re­peat over and over for the next 13 years: ‘I’m fine.’ I stayed at work.

And so be­gan the most ex­tra­or­di­nary, dif­fi­cult path a par­ent can take. Elvi’s di­ag­no­sis meant that – if she lived any length of time – she would have se­vere learn­ing dif­fi­cul­ties, dwarfism and cataracts that would badly re­duce her sight. There was a like­li­hood of sco­l­io­sis, a mis­shapen spine. Her or­gans might out­grow her skele­ton and there was a very real threat of early death.

As with many par­ents of dis­abled chil­dren,

Damian and I re­acted com­pletely dif­fer­ently. I mourned the child I had imag­ined; the daugh­ter I was sav­ing clothes and trea­sured books for had dis­ap­peared; the girl I would tell about the joy of be­ing fe­male and how hard you have to work to achieve your dreams was never go­ing to ex­ist. I con­cen­trated harder on my job while try­ing not to think about Elvi’s fu­ture. My hus­band, on the other hand, thought he could fix her; we would find a cure. But there is no cure for RCDP.

We were thrown into the world of sham­bolic lo­cal au­thor­ity care: well-mean­ing, poorly paid pro­fes­sion­als who were bet­ter equipped to cope with chil­dren with more com­mon con­di­tions such as Down’s syn­drome and autism. Elvi baf­fled them be­cause of the rar­ity of her con­di­tion and her lack of prog­no­sis. There was talk of a ‘state­ment’, a le­gal doc­u­ment that would lay out Elvi’s ed­u­ca­tional needs. We filled in long forms, hav­ing to write down all the things she couldn’t do, with tears in our eyes and no one to guide us.

Equip­ment ar­rived: a tiny walk­ing frame, a pair of glasses, splints for her legs, the over­sized nap­pies Elvi would al­ways have to wear. She started to grow out of all these things but, due to bu­reau­cracy, re­place­ments took ages. It took two years to re­place her walk­ing frame; two years with­out vi­tal weight-bear­ing ex­er­cise to build up her bones. It was bewil­der­ing and iso­lat­ing.

We looked around the ex­cel­lent lo­cal pri­mary school we had al­ways imag­ined Elvi would at­tend. The spe­cial needs co­or­di­na­tor sur­rep­ti­tiously told us our daugh­ter would be wel­come but the school re­ally wouldn’t be able to meet her needs. She re­quired a spe­cial school. So we found a wel­com­ing one in Kingston Upon Thames. The tiny wheel­chairs parked in the cor­ri­dors made us feel at home.

Here we found other par­ents who were go­ing through the same dif­fi­cult stages as us. Par­ents who would be­come our clos­est friends and am­a­teur ther­a­pists, who would pro­vide more in­for­ma­tion than the au­thor­i­ties about what help there was to be found. There was no school-gate chat be­cause dis­abled chil­dren are bussed in, but we would call each other in our low­est mo­ments and share dark jokes about our in­sane lives and the lack of sup­port from a lo­cal au­thor­ity – jokes no one else would un­der­stand. These were the only peo­ple we trusted enough to say: ‘No, I’m not fine. I’m ex­hausted and an­gry.’

My par­ents were sup­port­ive and Damian was – and still is – an ex­cel­lent dad. But friends we’d had for years didn’t know how to han­dle Elvi’s con­di­tion or our re­ac­tion to it. We gave a good im­pres­sion we were cop­ing and they backed off. Ac­tu­ally, we weren’t cop­ing. We were strug­gling to keep all Elvi’s ap­point­ments with five dif­fer­ent con­sul­tants at three dif­fer­ent hos­pi­tals and hold down our jobs.

While I was on ma­ter­nity leave, my depart­ment’s work­ing week was re­duced to four days be­cause the daily hours were so long and in­cluded some week­ends. That suited me, par­tic­u­larly when Elvi was fi­nally di­ag­nosed; I worked hard, of­ten well into the night, and fixed most of her ap­point­ments for my ‘day off ’. But when a new ed­i­tor came in, we were switched back to a five-day week and the home/work bal­ance be­came trick­ier. Even so, I once told a male col­league I loved my job partly be­cause it felt like respite from the stress of be­ing Elvi’s mum, but he warned me never to say that out loud again as it would an­noy ev­ery man in the of­fice.

Mean­while, friends we’d made in an­te­na­tal classes were start­ing to have sec­ond chil­dren and Damian was keen to add to our fam­ily. We knew there was a one in four chance that any baby we had would have RCDP as we had dis­cov­ered that we both car­ried a faulty Pex7 gene. Doc­tors told us there had been a one in 400,000 chance of us meet­ing and hav­ing a child to­gether, and there­fore one with RCDP. Given that we know of fewer than 60 chil­dren in the world with the con­di­tion I have al­ways felt the odds must be even greater.

If I con­ceived again, we could test for RCDP at 20 weeks, but I knew I would not choose to abort a baby if it had the con­di­tion. I ques­tioned whether we could cope with another child with RCDP when we still didn’t know how it would fully man­i­fest it­self in Elvi. Sadly, the de­ci­sion about whether or not to try for another baby put even more pres­sure on our al­ready strained re­la­tion­ship and Damian and I split up.

At work there was a shake-up of se­nior ex­ec­u­tives and I found my­self shunted side­ways into a depart­ment I knew lit­tle about, which at the time made me fu­ri­ous. That woman who had pre­vi­ously made it her busi­ness never to rock the boat at work was gone: I felt I had noth­ing to lose be­cause I had al­ready faced the worst that could ever hap­pen. Just two faulty genes had de­railed my life, my job and my mar­riage. But, in fact, the side­ways move taught me new skills and my new depart­ment head pro­tected

In her mid-teens Elvi can say about 70 words. She can’t stand or dress her­self

me while I licked my wounds. The pres­sure was much less and I had more time to con­cen­trate on my daugh­ter and come to terms with life as a sin­gle mum of a se­verely dis­abled child.

I also had time to meet some­one else. My col­league Will and I moved in to­gether and in 2006 had Sonny, a healthy baby boy. I didn’t ask Will to test for the Pex7 gene as the chances of him hav­ing it seemed so slim.

By now Elvi was five and de­fy­ing the odds sim­ply by stay­ing alive. She could say a few words, we could take her out in a large buggy and she loved school. My friend­ship with Damian, who re­mar­ried and had two more daugh­ters, sur­vived and we now share Elvi’s care and the de­ci­sion-mak­ing about her 50/50.

I be­came a school gover­nor, learn­ing more about spe­cial-needs ed­u­ca­tion and how to help other chil­dren. I also joined the grant panel of the char­ity Jeans for Genes, which raises money for the 500,000 chil­dren in the UK af­flicted by one of more than 6,000 de­bil­i­tat­ing ge­netic dis­or­ders. I want to en­sure fam­i­lies like ours feel less iso­lated.

Through the in­ter­net we found a fam­ily in Kent who had a nine-year- old daugh­ter, Char­lotte, with RCDP and when Damian and I went to visit them, it was like find­ing a lost fam­ily. Then with the ar­rival of Face­book we dis­cov­ered more sim­i­lar fam­i­lies, mostly in the US, and I found so­lace in their sto­ries. The ma­jor­ity of these 50 or so chil­dren were more se­verely af­fected than Elvi and sadly many of them, in­clud­ing Char­lotte, have since died. It wasn’t un­til Elvi was 12 that Great Or­mond Street Hos­pi­tal de­cided that she has a rare form of RCDP, which is why she is less se­verely af­fected, but it means the doc­tors have even less of a clue about her fu­ture.

As Elvi be­came a teenager our bat­tles changed. Her cataracts grew so we moved her to a school for vis­ually im­paired chil­dren. Even­tu­ally she had surgery to re­move them. She went through pu­berty and be­came even more stroppy than usual when she couldn’t make her­self un­der­stood. She stopped sleep­ing, want­ing in­stead to be on the sofa with me watch­ing Danc­ing on Ice re-runs through the night and eat­ing her favourite cus­tard creams. In her mid-teens, she can say about 70 words, mostly de­mands such as ‘TV’ or ‘wa­ter’, and sings along to nurs­ery rhymes. But she still wears nap­pies. She can’t stand or dress her­self. She can’t switch on the TV or man­age the touch­screen on her iPad – she just prods at it fu­ri­ously when her mu­sic stops. An ed­u­ca­tional psy­chol­o­gist as­sessed her men­tal age as one or two.

Re­luc­tantly, in De­cem­ber last year, I gave up my beloved job as as­so­ciate ed­i­tor at The Sun, a po­si­tion I had fought to at­tain. For 15 years I had man­aged to jug­gle car­ing for Elvi with my ca­reer, which not only pre­served my san­ity but also let me speak up for par­ents strug­gling to look af­ter dis­abled chil­dren. I truly be­lieve be­ing Elvi’s mum made me a bet­ter jour­nal­ist and be­ing a jour­nal­ist made me a bet­ter mum. But her in­creas­ingly dif­fi­cult needs, plus fac­ing a fu­ture with­out the daily care her school pro­vides, forced my hand.

It helps that there are now two fam­i­lies – mine and Damian’s – look­ing af­ter Elvi, and my bosses have been very sup­port­ive, al­low­ing me to do a job-share for a year and pro­mot­ing me. But with­out more sup­port for Elvi, I felt I couldn’t con­tinue my jour­nal­is­tic ca­reer and I also felt I needed to give my son more at­ten­tion be­cause Elvi al­ways took pri­or­ity. De­spite two of our re­cent prime min­is­ters, David Cameron and Gor­don Brown, hav­ing chil­dren with de­bil­i­tat­ing dis­or­ders, the sys­tem that is sup­posed to help fam­i­lies is bro­ken and works against rather than for them.

Elvi turned 16 yes­ter­day. She is a beau­ti­ful teenager whose good genes have gifted her deep brown hair, azure eyes and a brain I know pro­cesses much more than she can ever ex­press through words. I can now pause to look back on what I have learnt. I am stronger than I ever imag­ined. I am braver than I ever thought pos­si­ble. My pa­tience has had to grow to bear Elvi’s oc­ca­sional vi­o­lence and frus­tra­tions. I un­der­stand be­ing on the out­side of ‘nor­mal’ gives you the great­est per­spec­tive on what needs chang­ing, who so­ci­ety should be help­ing and the is­sues we should re­ally worry about. And I have set up a com­pany, Cause Com­mu­ni­ca­tions, with my for­mer job-share part­ner, to cre­ate cam­paigns for char­i­ties. Our first client was Jeans for Genes – Elvi, Sonny and I ap­pear on some of the posters for this year’s fundrais­ing cam­paign (left). I miss my old life, but I know I am do­ing the right thing for my in­cred­i­ble daugh­ter who has taught me so, so much.

Jeans for Genes Day is on Fri­day. For more in­for­ma­tion and to regis­ter for your free fundrais­ing pack, visit jeans­for­ge­nes­day.org

Sam with her daugh­ter Elvi, who has just turned 16

Sam with Elvi at home. Op­po­site, from top: Elvi with her half-brother Sonny, and her dad Damian

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