Congenital Myotonic Dystrophy Fight Fund – Sian Rixon’s Story

Published Date
Alexa Follen
Emmie and Sian

The Congenital Myotonic Dystrophy Fight Fund is one of our amazing Family Funds. It is a collective of four families all affected by this rare condition. We will share all their stories, starting with, Sian Rixon, mum to Emmie and one of Muscular Dystrophy UK’s peer support volunteer. Sian tells us why raising awareness and funds is so important to her ahead of her first fundraising event – ‘Move a Christmas Mile’.

Emmie was born in 2011 via a planned caesarean. Everything should have been fine, but on delivery she was very floppy and needed help breathing. She was whisked off to neonatal after I had a brief glance in her incubator.

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.

The next 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 but was a star patient. Emmie was, and still is, determined not to be left behind.

Emmie is now 4 years old and has just started school. 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.”

There are currently no treatments or cures for Emmie’s condition. Sian, along with the other families in the Congenital Myotonic Dystrophy Fight Fund, are striving to fund the best world class research they can. You can support their campaign on JustGiving.

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