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
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.