Sian Rixon, 37, has a six-year-old son, Finn, and a daughter, Emmie, five, who has rare muscle-wasting condition congenital myotonic dystrophy. Sian talks about the shock of discovering she had unknowingly passed the genetic condition to her daughter, and explains her decision not to have more children.
“Emmie was born floppy and was very weak and small. She was whisked off to neonatal after I had a brief glance in her incubator.
“Multiple doctors were called in and they looked at everything from the way she held her hands to how tall and flexible she was. They did a lumbar puncture on Emmie and took multiple blood tests.
“Finally the geneticist came to see her and after taking note of a series of symptoms, ran them through the database of genetic disorders and a diagnosis of congenital myotonic dystrophy was given.
“We were told the effects could be extensive – from heart problems to cataracts, to diabetes, to learning difficulties. No one child will experience all problems and no two children will present exactly the same symptoms.
“I’d never heard of it but the doctor said it was genetic so she must have got it from me or her dad.
“We went to see a geneticist who explained that it wasn’t possible to ‘carry’ the condition – you either had it or you didn’t.
“I said: ‘But we’re both perfectly healthy.’
“The doctor explained the condition was caused by a mutation in a piece of DNA and that mutation got worse further down the generations.
“I read a list of common symptoms and realised I’d started to display some of them, but I hadn’t realised they were connected. In my 20s, I’d started getting stiff hands but my GP said it was simply mild rheumatoid arthritis.
“Tests confirmed that it had come from me, via my mother.
“It was difficult news to hear. But I refuse to feel guilty. It’s something that’s beyond my control and feeling guilty won’t help Emmie.
“Sometimes I feel guilty for my husband because he took me on expecting a normal life and now our future is uncertain. He may have to end up nursing me in later life.
“If we had known I had the condition, we would have looked into ways to have children without passing on the gene.
“But we’ve got Emmie now and we couldn’t imagine life without her.
“Unlike me, the condition has affected Emmie hugely. She can’t talk properly and frequently falls when walking.
“She has a great attitude to life. She is quite determined to keep up with her friends and does not let her condition stop her from trying.
“The first two years of Emmie’s life was a series of appointments – she saw speech therapists, physiotherapists, occupational therapists, paediatricians, ophthalmic specialists, cardiologists, orthopaedic doctors and more…
“She was poked and prodded and had to wear a pavlik harness to prevent hip dysplasia and she was a star patient. At home she was stubborn and strong willed, we have often been congratulated on the good work we’ve done with her but I truly believe it is down to Emmie being determined not to be left behind.
“She fights with her brother, she rides her balance bike and she makes sure she gets what she wants. She loves dolls and drawing and is a typical girl, except when she wants to wear her brother’s clothes or dress up as a superhero. She also gives the best hugs.
“Now, we’ve decided not to have any more children because we can’t risk them having myotonic dystrophy. We’re fortunate that Emmie survived – there are children with the condition who die at birth.
“I’m lucky that my form of the condition has a slow progression. But for Emmie, it’s different. Her form of the condition is going to affect her life far more significantly.
“It has been a shock. But I’m quite pragmatic. We just get on with things because that’s what’s best for Emmie.
“In 2015 I started the Congenital Myotonic Dystrophy Fight Fund. Set up with three other families, the aim of the fund is to raise funds strictly for research into treatments for congenital myotonic dystrophy.
“I took my sadness and focused that energy on caring for Emmie – and finding a cure.
“We are really excited to see muscular dystrophy on TV as it will raise awareness of the condition, which can only be a good thing when trying to raise funds. Myotonic dystrophy is a little known condition, even though it is one of the most common forms of muscular dystrophy, so I’m eager to see it in the limelight.
“The decision to not have more children was an easy one. Although only Emmie has myotonic dystrophy, our son Finn has also spent time in Neonatal, so we are lucky to have the two children we have. In an ideal world we would like more children. I was once told by a doctor that birth is a miracle – at the time I didn’t appreciate the comment, but I do now and I’m very grateful for what we have.
“Emmie has so many loves in life – she loves horses, scooting, swinging, boats and babies. She is also very caring if others are hurt or upset. She tells me she wants to be a nurse, at this time we do not know if that is possible, but whatever she becomes, we will always be proud of her. I hope that Emmie is happy, accepted for who she is by society and has a full life.”