It happened to me
Just two faulty genes derailed my life
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 justgiving.com/ 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