It hap­pened to me

Just two faulty genes de­railed my life

Woman (UK) - - Contents -

As the sy­ringe plunged into my daugh­ter Elvi’s skin, I felt the full weight of her teenage body col­lapse into my arms. Her sob­bing stopped in­stantly as she dropped out of con­scious­ness, and I laid her back on the hos­pi­tal trol­ley. an anaes­thetist swiftly cov­ered her mouth and nose with an oxy­gen mask. I kissed Elvi’s pale fore­head gen­tly, then she was rolled into the­atre for her third op­er­a­tion in as many years.

I cried fat tears as I sat in the wait­ing room re­flect­ing on my daugh­ter’s life.

Elvi is 16, but men­tally she’s aged two. Be­cause of just two ran­dom faulty genes she in­her­ited from me and her dad, she has the ge­netic dis­or­der Rhi­zomelic Chon­drodys­pla­sia Punc­tata (RCDP). It’s so rare that there are only two other chil­dren in the UK that are known to have the same con­di­tion.

RCDP is a par­tic­u­larly nasty form of dwarfism, usu­ally fa­tal by the age of two. Symp­toms in­clude se­vere learn­ing dif­fi­cul­ties, short­ened long bones, mis­shapen joints, cataracts, and spinal de­for­mi­ties. Hos­pi­tals be­come like sec­ond homes to suf­fer­ers. In this in­stance, Elvi was hav­ing an op to re­move a cyst on her cheek. The pro­ce­dure is nor­mally car­ried out with a lo­cal anaes­thetic, but be­cause my daugh­ter would never sit still or tol­er­ate some­one touch­ing her face, she had to be knocked out. Be­cause of her learn­ing dif­fi­cul­ties, I couldn’t ex­plain to her why she was in hos­pi­tal or who these strangers were in­ject­ing her skin.

Noth­ing is straight­for­ward with Elvi. More than any­thing, her con­di­tion has shaped who I am to­day, my ca­reer, my re­la­tion­ships and how I look at the world.

Our un­spo­ken fear that some­thing wasn’t quite right was con­firmed by a health vis­i­tor. Two years of blood tests, MRI scans, X-rays, and try­ing to feed her high-calo­rie milk led to noth­ing. As other chil­dren in her play­group learned to crawl, then walk, then run, Elvi couldn’t even sit up. She couldn’t talk or eat more than a few mouth­fuls of puréed food. I was at the news­pa­per where I worked early in the morn­ing in 2003 when we re­ceived Elvi’s bru­tal di­ag­no­sis. An email ar­rived on my com­puter from her con­sul­tant at Great Or­mond Street Hos­pi­tal (GOSH), Lon­don. He men­tioned Elvi might have RCDP but didn’t ex­plain what it was. I searched the in­ter­net for more de­tail. Dis­turb­ing med­i­cal im­ages of de­formed skele­tons flicked up on my screen, along with the words ‘dwarfism’. I called Damian and wept down the phone. He re­as­sured me that we would cope. We would find a cure. I stayed at work, des­per­ate to fo­cus on any­thing ex­cept the news that would change my life for­ever. Emo­tion­ally we thought we were equipped to deal with the first ma­jor chal­lenge that had been thrown into our oth­er­wise straight­for­ward lives, but in re­al­ity we felt iso­lated and scared. I re­mem­ber my child­min­der de­scrib­ing Elvi as hav­ing ‘spe­cial needs’. She was the first one to use the term and it hit me in the stom­ach like a heavy­weight punch. The rareness of Elvi’s con­di­tion meant there was no one to ask for mean­ing­ful help. There were lo­cal groups for chil­dren with autism and Down’s syn­drome but noth­ing for RCDP. Some of our friends re­acted strangely – many felt they didn’t know what to say and backed off. Damian’s fam­ily was in Aus­tralia. We were de­pen­dent on my amaz­ing dad for help and sup­port. So­cial ser­vices be­came a fac­tor in our lives; they were well-mean­ing but in­ad­e­quately funded. We felt like we lived in the out­pa­tients depart­ment. No-one knew what Elvi’s prog­no­sis would be. They couldn’t tell us if she would live un­til she was five or 25. They still don’t know, although, at 16, she is clearly beat­ing the odds. I felt an­gry and be­wil­dered that my daugh­ter was never go­ing to be the one I dreamt of, I’d never be able to share my favourite nov­els with her, or the clothes I had saved in my loft. I’d never see her grad­u­ate or get mar­ried. I found it hard to visit friends with chil­dren the same age as Elvi – the temp­ta­tion to com­pare their achieve­ments with hers was too strong and up­set­ting. Damian wanted to try for a sec­ond child. I felt I couldn’t while I didn’t know what the fu­ture held for Elvi. The ge­netic pat­tern of RCDP meant that there was a one in four chance of us hav­ing an­other child with the same con­di­tion.

The pres­sure of that de­ci­sion meant our mar­riage broke up but we re­mained good friends, shar­ing Elvi’s care 50/50 and mak­ing de­ci­sions about her fu­ture to­gether.

When Elvi was three, we started look­ing for the right school for her. When we found Bedels­ford School we knew it would be per­fect. Tiny walk­ing frames and wheel­chairs out­side each class­room made us feel at home.

I shuf­fled Elvi’s end­less ap­point­ments with work but slowly came to re­alise I’d have to ad­just my ca­reer dreams.

I be­came friends with other par­ents at Elvi’s school. They were the peo­ple I could share my dark­est mo­ments with. When the stress, sad­ness and sense of iso­la­tion threat­ened to over­whelm me, I would ring them. Through the won­der of Face­book we found other par­ents in the world with RCDP chil­dren.

I met a new part­ner, Will, at work. He be­came an in­cred­i­bly un­der­stand­ing step­dad to Elvi and we had a son in 2006. Sonny is un­af­fected by the con­di­tion as Will does not carry the RCDP gene. Damian re­mar­ried and had a daugh­ter.

Be­cause we split her week be­tween our two homes, I was able to go much fur­ther at work than I had imag­ined. How­ever, in De­cem­ber 2016, I gave up the job I loved.

In­stead I started a busi­ness look­ing af­ter com­mu­ni­ca­tions for char­i­ties like Jeans for Genes. I’m still busy, but I have more time to care for my fam­ily these days.

Elvi has grown into a strong young woman. She can be in­cred­i­bly de­mand­ing. If she gets into a strop, the whole fam­ily has to jump to at­ten­tion to work out what is wrong. She still needs to be dressed and show­ered. She can’t walk. She can be vi­o­lent. I have had to learn to be pa­tient, I have also learnt not to sweat the small stuff. Elvi can now use a power wheel­chair – she loves the in­de­pen­dence that it brings. She’s also started singing nurs­ery rhymes with great gusto, which makes me smile. She might never go shop­ping with me or sit in a cafe with just her friends but she is spir­ited, strong and so lov­ing. She laughs a lot. Elvi may not a be a ‘nor­mal’ child but this beau­ti­ful girl has de­fied the odds to fill our lives with sun­shine. ✱ To do­nate to Jeans for Genes, visit just­giv­ cam­paigns/char­ity/ jeans­for­genes/ j4g­day2017in­di­vid­u­als

‘we felt iso­lated and scared’

I was hap­pily mar­ried to Damian, a fel­low jour­nal­ist, when I dis­cov­ered I was preg­nant back in Fe­bru­ary 2001. We’d trav­elled loads and on one ad­ven­ture in Be­lize found a lo­cal restau­rant called Elvi’s Kitchen. That’s how we came up with our daugh­ter’s...

elvi has taught her mum to be pa­tient and to not sweat the small stuff

sam with new part­ner will and elvi and sonny in 2012

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