Meet the team

We had a dream....

We are a group of mums and grandmothers, all with something in common. We identified there was a need for greater support for families with CDM. None of us knew each other before connecting on a facebook page. After some talking an idea was conceived about starting a charity. We thought about what was missing, what we felt we would have benefited from, and what we want for the future.

We all felt lost with our diagnosis and we are all coming to this from different personal situations, but we all want, no, we all NEED the same thing. We need support, we need friendship, we need someone to talk to when things get tough. Someone who understands. We need fun and positiveness for those rainy days, and we need a CURE for our children!

We're doing what we can - and we hope you will be part of it. Between the 4 of us we cover a range of situations, maybe you can relate and would like to talk to someone who is going through the same as you. Feel free to message us, we'd be happy to talk.

I'd like to introduce: Linda, Sian, Sarah and Emma-Jayne.

!

Emma-Jayne Ashley

Mum of Dregan, Born 1999.

Emma-Jayne is married to Pete, and is mum to Dregan, Xander and River. Dregan was diagnosed with CMMD in 2014, the day before his 15th birthday! Unusually, he has inherited the gene from his biological father.

Suddenly everything in the last 15 years made sense, from his difficulties at birth to his 'hands freezing' multiple times an hour! Despite seeing numerous specialists and being diagnosed with 20 different disorders, CMMD was never even hinted at before. It was a shock!

"Science is moving on every day, and now is an exciting time to be involved. I am keen to raise awareness of this disorder, and improve knowledge amongst professionals. Especially the prevalence of CMMD inherited paternally. Until not so long ago it was thought impossible, but there are more and more cases being reported, and I think it is important that people don't assume the child doesn't have the disorder solely based on the appearance of the mother".

No-one can go through it alone, and we don't have to! 

You can contact me: emma@cmmd.uk

Sian Rixon

Mum of Emmie. Born 2011.
Sian is mum to Finn and Emmie, and was diagnosed with Myotonic Dystrophy type 1 after the birth of Emmie in 2011, Finn is unaffected.  Sian was in the fortunate position of receiving a diagnosis for Emmie about 10 days after her birth but the fact that it was a genetic condition inherited from Sian has been a shock, whilst at the same time answered so many questions.
 
"Our experience of support has mainly been positive but I have learnt along the way.  Typically people tend to look on Doctors in awe, but whilst respecting their knowledge, I have learnt to speak up and get the attention and treatment my daughter requires.  I tell very few people this, but when Emmie was diagnosed I was scared that I would not love her or I would resent her but Emmie makes me a better person and no one, least of all her mummy, can not love the cuddles and affection she gives, along with her vibrant and independent personality!"

Linda Atkinson

Linda is Nana to Freya, who has CMMD. Born in 2013.

In January 2013 Freya was born with obvious problems, she was what they term a floppy baby, which was put down to the difficulty of her birth. When she didn't improve as they expected, they then began a series of tests.

18 months later the diagnosis was made. "It was not something we had heard of, but after intensive research we began to understand a little about the disease.  In the meantime after the rest of the family was tested, my daughter was diagnosed with child onset Myotonic Dystrophy, inherited from her Father. My son who is 19 was also tested but found to be clear.

The reason I wanted to get involved with this group is my family are very important to me. I want to, and will, do whatever I can to help find a cure. Also to provide support and information to anyone else affected. I know how hard it was for us to find the right help in the beginning. If I can help ease that struggle for just one family affected I will feel it will be worthwhile."

Sarah Ruane

Mum of Josh. Born 2011

Sarah is mum to Josh and is a Paediatric nurse with extensive experience working with children with muscular and neuromuscular conditions.

Josh came into Sarah's life at 3 months old - she fell in love and adopted him when his biological mother was unable to care for him.

Sarah has been fundraising and wants to find a cure. Josh is taking part in clinical research programme in Utah.

"To all families living with this condition, I say we may be small in number but we are mighty in voice and support."