Elvi's story - Jeans for Genes

Elvi's story

Rhizomelic Chondrodysplasia Punctata (RCDP)

RCDP is a rare genetic disorder, causing severe learning difficulties, shortened long bones, misshapen joints, cataracts, and spinal deformities.

Elvi has RCDP, which means that at 15 years of age she has the mental age of a two year old. There are believed to be only two other children with RCDP living in the UK.

Because of the rarity of the condition consultants have very little to go on when managing Elvi’s condition or discussing what the future holds for her. It is thought that Elvi has the rare mild form of the rare disorder but beyond that they say she is “writing her own story”. There is one doctor, in America, researching the condition but no drug trials. No one in her special needs school has heard of her syndrome. Therapists ask us for tips. As so often with a rare genetic disorder her parents, have become the experts.

The diagnosis

Elvi was diagnosed, aged two. Doctors told her parents, Sam and Damian, that sufferers of RCDP rarely lived past three years old. But as with everything else in her life Elvi has defied the predictable and expected and has grown into a beautiful young woman.

Life with Elvi

Elvi’s mum Sam says that in many ways Elvi is a typical teenager. “She has developed a fashionable fascination with coats, wanting to try on mine, and then swap it with her brother’s and then her stepdad’s. She loves good looking boys. X Factor and Dancing on Ice star, Ray Quinn is the current favourite. She hates going to bed, then wakes in the early hours of the morning demanding TV and food.  She has hormonal strops with me and is incredibly opinionated. So far so teenage!”

The difference is Elvi knows only about 60 words. She can put three words together but sentences are no longer than that.

“Toast please, momma.”

“TV!!”, “Coat!”

“Water please.”

She can’t walk but she bum shuffles, at great speed if she’s angry. She can’t turn the TV channel over but she can point to Kung Fu Panda 2 picture on the satellite guide and demand: “THAT ONE!”

Sam continues: “Behind her pale blue eyes there is so much more going on. She taught herself to lever her body onto the sofa without help. She absolutely loves going to church on a Sunday morning, “Sing song” as she calls it. She can recite the words to her favourite book Owl Babies. She jokingly calls me “Daddy” and Daddy gets called “Mummy” then she cracks up laughing. She laughs so heartily at the sat nav voice in our car I worry she’s going to convulse every time it tells us to “take the first exit at the roundabout.

One consultant told us early on: If she had been normal she probably would have been incredibly bright. That’s another thing you learn as a parent of child with a genetic disorder, well-meaning doctors can break your heart with a single throwaway line”

You learn patience. Elvi can’t be told to “wait” because she doesn’t understand the concept of “waiting” for anything. When she gets cross, usually frustrated that she can’t make herself understood, she starts trashing anything in reach. Sometimes she bites. Pure fury. It doesn’t matter where we are or who we are with, social niceties mean nothing to Elvi.

Her brother, Sonny, ten, has to sacrifice so much because Elvi won’t tolerate sitting in a cafe or shopping, theatre performances are hit and miss, her wheelchair can’t climb hills or cross sand dunes. She will only watch animated films, mostly the same one 10 million times, then suddenly tire of it and move on to something else. Her endless hospital appointments and 24-hour care mean Sonny’s plans are often rescheduled or cancelled.

“Recently Elvi stopped sleeping in the night. She wakes at 3am most mornings and refuses to go back to sleep. I have to be up with her. It’s exhausting. I gave up a job I loved as a journalist to concentrate on Elvi and spend more time with her brother”

Looking back I realise our life has been split into three phases.

There was the fight for a diagnosis when she was tiny and then the shock of discovering what she had – that sadly led to us divorcing; it’s no comfort that parents of a disabled child are 10 per cent more likely to split up than “normal” parents.

Then the fight for services as she got older and we realised she would need support and equipment. Her dad and I started new families – two sets of parents and siblings to love her. We stopped looking inward and began collecting friends in the same position with children of whatever disability to share our darkest moments. We found Jeans for Genes; I joined the grant panel which gives money raised on the Jeans for Genes Day to small charities mostly run by parents. I began to advocate for other children with one of the more than 6,000 genetic disorders.

Then came her emergence into young adulthood, a two-year fight to change schools, more battles for equipment and services as she outgrew primary things. An understanding that her strange new foibles were actually just being a teenager. Adapting to the sheer physical stress of lifting and moving someone who weighs 38lbs. Ramps, a wet room, better access to the garden, a car that can take her much bigger wheelchair.

And now we stare at the future, so lucky to have this beautiful, funny, smiley, cuddly girl but terrified what will happen when she leaves school. When I was a teenager I always wanted to be different to everyone else. All I needed was Elvi”.