The Congenital Myotonic Dystrophy Fight Fund is a family fund set up by a group of four families affected by the muscle-wasting condition.
The aim of the fund is to raise funds strictly for research into treatments for myotonic dystrophy.
Below our four families explain their experiences with the condition, and tell us the importance of funding in research, with the help of our supporters.
Emmie was born in 2011 via a planned caesarian. 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.
Princess Anne Neonatal team were fabulous, multiple doctors were called in and they looked at everything from the way she held her hands to how tall and flexible I was. They did a lumbar puncture 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.
Effects of this disorder can 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.
For the first five months of Emmie’s life, she was like a newborn. On the one hand it was quite nice for visitors who couldn’t come straight away, on the other hand we were wishing her life away as were aimed for each milestone with nervous anticipation.
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 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.
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.
Does her condition affect her? Yes! She has severe speech delay, she has a very strong prescription for glasses (which she has worn since she was 6 months old) and if she walks any more than about 10 yards she usually falls over. Is it going to affect her future? Most probably, but knowing Emmie as we now do, it won’t stop her doing anything she wants to do.
Sian Rixon, Emmie’s mum
When Freya was born in 2013 there were obvious problems, she had swallowed meconium and had had a difficult birth. She was taken straight to special care baby unit. She didn’t move and couldn’t feed and when she didn’t improve, they began to do various test to find out why.
After a month Freya was allowed home with a feeding tube. Progress was slow but eventually she did move on to bottle feeds and a special high calorie milk. There was still a lack of movement, she could not lift her head or roll over, but with the help of physiotherapy these things began to happen.
When Freya was 16 months old the diagnosis of congenital myotonic dystrophy was made. We had never heard of it and was not even aware it was in the family until then. It was devastating news.
Freya is now 2 and a half and just starting to stand and climb the sofa, she is non-verbal but certainly knows how to get what she wants, she understands everything when we talk to her and responds appropriately. She is progressing well and is such a happy and loving child. We feel blessed to have her.
Fundraising is essential if we intend to find some help for our children. At the moment there is little research into myotonic dystrophy, however there is a lot in the pipeline that needs our input and support.
Linda Atkinson, Freya’s Grandmother
I met my son when he was three months old, in the hospital where I worked. He had been in hospital since birth on the neonatal intensive-care unit and then transferred to ward where I worked.
He had a diagnosis of congenital myotonic muscular dystrophy. He also had bilateral talipes (club feet) bilateral nystagmus (wobbly eyes) and was unable to feed orally. He also spent 2 months on a ventilator.
His health was very fragile. His biological family had a long history of childhood onset myotonic dystrophy type 1 through at least 4 generations. Unfortunately his mother was completely unable to care for him and foster carers could not be found due, probably, to the very bleak prognosis that was given at the time.
I was assessed to become Josh’s foster carer and took him home at 5 months, then formerly adopted him at 11 months. He has done very well since then. He no longer has a feeding tube and has learnt to walk and can talk a little. He wears glasses and his feet have been corrected. He has enjoyed very good health so far. He has learning difficulties and autism. He is charming and an exceptional little boy who I love dearly.
My advice to any new parents would be this. By all means listen to doctors and specialists but above all listen to parents who have been there and done that. We are all willing to help and give advice. My son takes part in a study in the United States and I have an extensive background in children with complex needs. I am more than happy to translate doctor speak for you and give out any information I can glean from anywhere.
Sarah Ruane, Josh’s mum
When Dregan was born, he was taken to Special Care as he was ‘grunting’ and needed help breathing and was bradycardic. He was in special care for nine days, but nobody really explained what was happening.
Dregan could not breastfeed and his development was delayed. He sat up, crawled, walked and spoke later than expected.
At three years old, it was more apparent that Dregan was having difficulties with his speech and development. When he started school, he was put into a specialist school class for speech and language disorders. He was there for three years, and later diagnosed with ‘Verbal and Motor Dyspraxia’, ‘Semantic, Pragmatic disorder’, ‘Sensory Perception Disorder’.
By the time he was eight years old, Dregan had a long list of diagnosed conditions, and we were even more convinced there was something else causing it all. We were regularly told it was unfortunate that he had so many separate issues, and it’s almost like they all interact with each other. All the different departments did not communicate, it was very frustrating.
We received a letter stating ‘We will most likely never have a medical explanations for Dregan’s symptoms and disability’.
Dregan was taken critically ill in April 2014. He spent 6 weeks in hospital, saw ophthalmology, ENT, general paediatricians, neurologists, neurosurgeons, students, nurses, immunology, and numerous attendees. A different person from each department each time, no one had anything to say about his symptoms.
In August 2014 we had a follow up appointment with the neurologist and he asked why we had an MRI in Jan. He turned to us and said ‘I know what that is, I am going to look much cleverer than I actually am, and diagnose you, within 5 minutes, with no notes’ – then he said the words ‘myotonic dystrophy’. We were there for advice on a blood clot in Dregan’s head, and were told ‘That’s the least of your worries’. Bloods were taken there and then for a genetic test.
Once he was diagnosed, the last 15 years finally made sense. Every single symptom Dregan has shown can be associated with congenital myotonic dystrophy.
If nothing else, our experience proves that more research is needed into this disorder, and we need to raise awareness with all medical and educational professionals – and the wider public.
Dregan’s symptoms are increasing since he got ill, but maybe this is something to do with becoming a teenager. He is a lovely, friendly, happy boy, perhaps with a touch of teenage moodiness every now and then!
More children with congenital DM are living longer as treatment is improving. Now if only we could understand it a bit more…
Please support this Fund – there is much needed research into this disorder, and as it is a hereditary disease, there must be thousands of people, like Dregan and his father’s family, who don’t even know they have it.
Emma-Jayne Ashley, Dregan’s mum
How you can help
Find out more about the groups’ fundraising efforts over at cmmd.uk
Setting up a family fund like the Congenital Myotonic Dystrophy Fight Fund is a great way to fundraise for Muscular Dystrophy UK to keep our vital research moving forward. Find out more about our family funds.