....from diagnosis to a cure!
Dregan was born in 1999. Labour started as textbooks tell you it will. I was in active labour for 36 hours, and eventually wheeled down for an emergency C-Section under general anaesthetic. Dregan was not moving down as expected, and his heart rate was dropping dangerously low. I never really knew what happened, but I do remember it was longer than expected for them to bring me round.
" He was taken to Special Care as he was ‘grunting’ and needed help breathing. I was very poorly so it is all a bit of a blur, but I remember I was not able to feed him. He was in Special Care for 9 days. Nobody really explained what was happening, and after we were sent home there were no follow ups. ‘Just one of those things’.
Dregan could not breastfeed, he didn’t have the sucking ability, and we used bottles with bigger holes. His development was delayed, he sat up, crawled and walked later than expected. And his speech was severely delayed. He struggled to eat, and could not chew. He was on baby food jars until he was 2 years, and then he would only eat certain foods. He did not eat anything messy – he was quite picky! At his 18month check-up I expressed concern, to be told that it would come on by his 24month check. I pointed out that he was actually 23months and they were late with the check. The health visitor showed some concern, but didn’t really give any advice.
At 3 years old, it was more apparent that Dregan was having difficulties with his speech and development. He was sent for a brain MRI, but nothing obvious showed up, and we were told, again, ‘we don’t know’. He was diagnosed with Speech and Language difficulties, and some developmental delay.
Dregan is the eldest in his school year, so he was almost 5 when he started full time school. He was put into a specialist school class for speech and language disorders. He was there the full 3 years, and then he was diagnosed with ‘Verbal and Motor Dyspraxia’, ‘Semantic, Pragmatic disorder’, ‘Sensory Perception Disorder’.
He moved into mainstream school, and by this time seeing many specialists, Paediatricians, Physical Therapists, Occupational Therapists, Speech Therapists, and Educational Psychologists. They all did their individual assessments, and gave him a few more labels. By this time it was clear Dregan was Autistic, and he still had severe speech issues. He was 8 when he received his Autism diagnosis, and his statement of Special Educational Needs.
When Dregan was in year 4, we moved over to North Lincolnshire with my new husband, and he attended a small village mainstream school. By this time his Autism and Learning difficulties were more pronounced, he was not reading and writing, and he was not an active part of the educational class. We had to start again with the specialists. We met some wonderful supportive people, who we still feel close to now, but it was not an educational experience for him. And we still didn’t have any answers, just more questions as time went on.
Dregan now 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 its almost like they all interact with eachother. We simply could not get departments to talk to eachother. We had people not believe us when we told him he got hiccups every day, multiple times a day, and that he seemed to struggle to swallow. We had people think we were making it up that his hands were ‘freezing up’ and that his fingers would go extremely stiff for a minute, for no apparent reason. I was saying at every appointment that I felt he didn’t have much strength in his jaw and hands/arms.
We are fighters, and we didn’t take no for an answer. We just knew there was something other than ’Autism’ causing his difficulties. By the time Dregan went to high school (a specialist school), he still could not read or write, he was going backwards in some respects. He struggled to know when he needed the toilet. He could not express himself, and it was becoming more apparent that he didn’t always understand what we were saying. His cognitive difficulties were more pronounced as he developed in other areas. But, he had a diagnosis of Autism, and everyone kept saying ‘oh, he’s Autistic’ – other children with Autism could read and write, and walk without banging into things or falling. This wasn’t an acceptable response to us.
This went on for so many years. In between all this we were struggling with Dregans younger brother, who was subsequently diagnosed with ADHD, Aspergers and Hypermobility. He was the other end of the scale to Dregan though. (Xander has since received a negative test for DM)
At the end of 2013 we were at another Paediatric assessment, and the Doctor said he had ‘run out of ideas’. He agreed to send us for another MRI, upon our firm request, because there must be a reason his hands were seizing up so regularly. Multiple times a day, sometimes just when he moved his fingers. Also, he had gone further backwards in his education and the school test results were showing this. So, January 2014 he was sent for an MRI under general Anaesthetic.
We had a letter saying there had been a small cyst found in his brain, but it was nothing to be concerned about because a high majority of people have these and they cause no problems. Other than that, there was nothing to report and ‘We will most likely never have a medical explanations for Dregans symptoms and disability’….in other words – we give up. We had an appointment to discuss the results in the April.
We never made this appointment because Dregan was taken critically Ill in April 2014.
Over the next weeks we were told he had a ‘Cavernous Sinus Thrombosis’ – a blood clot in his head. This had caused Meningitis as a SIDE EFFECT. CST affects less than 1 in 10,000, and there is only a 1 in 3 chance of survival. After 3 weeks of treatment he began to deteriorate and we nearly lost him again.
It turned out he was allergic to the antibiotics which were saving his life.
He spent 6 weeks in hospital, saw Ophthalmology, ENT, General Paediatricians, Neurologists, NeuroSurgeons, Students, Nurses, and numerous Attendees. A different person from each department each time, all the way up to the ‘big brains’ at the top….and NO-ONE was interested in what we were saying about his hands and strength, no one picked up his CDM, because that was a ‘different issue’.
In August 2014 we were attending an appointment with the Neurologist, as Dregan still had a Thrombosis, and we asked to be seen so we could be given advice. He said hello, and apologised for not having his notes. Asked why we had an MRI in Jan, we told him. 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 Dregans head, and were told ‘That’s the least of your worries’ – bloods were taken there and then for a Genetic Test.
I was 16 weeks pregnant, so was tested the week after, Dregan test was expedited and we had his results within 7 days. Confirmed Congenital Myotonic Dystrophy – the last 15 years finally made sense.
My results took 1 week, I was negative for the gene. Dregan had once again caught the rare end of the stick, and inherited it from the Paternal gene. There is less than 1% chance.
So, this is how we got our diagnosis. Every single symptom Dregan has shown can be associated with Congenital Myotonic Dystrophy.
Dr Tony Hart, of Sheffield Children’s Hospital – you are our hero!
We have seen hundreds of people over Dregans lifetime, and not one of them thought of CDM, all it took was one man who recognised the symptoms to call it. The symptoms we were told we would never have a medical explanation for.
15 years ago it was not believed that CDM could be inherited from the Father. This is not the case. It was even more of an unknown disorder back then, so that may be why it was never diagnosed. After all, the chromosome responsible was only identified in about 1996. 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 is deteriorating visibly since his illness, but maybe this is something to do with becoming a teenager…. More research is needed as we simply don’t know why and how the disease progresses from person to person. More children with Congenital DM are living longer as treatment is improving. Now if only we could understand it a bit more.
Please support Cure DM – 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. "
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