Just Two Faulty Genes Derailed My

When writer Sam Carlisle’s daughter was two, she was diagnosed with a rare ge Sam explains the great losses – and great lessons – that her daughter’s disability.

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.