Charlie has an autosomal recessive form (RYR1) where he inherited two changed copies of the same gene (one from me and one from his dad). We were shocked to find that we are both carriers as it is so rare and we had four healthy children before Charlie! Due to this, Charlie, his brothers and sisters and ourselves are at risk of Malignant Hypertension, which means we could have a severe reaction to certain anaesthetics which can be life threatening.
Charlie has no cognitive delay, in fact he is very bright for his age and is currently learning Makaton.
He is entirely PEG fed, he has bulbar dysfunction which means his swallow is very weak and he tends to aspirate (breathe in) any fluid, causing infections and lung collapse. He has a suction machine to remove any excess secretions from his nose, trache and mouth to prevent aspiration. He needs chest physio morning and night, more if he is ill and he is attached to a pulse oximeter 24 hours a day so that we can keep a check on his oxygen saturation and heart rate. Charlie is ventilated via Nippy (BiPap) but currently just on air, he now normally only needs oxygen if he is ill.
We found out we were expecting our fifth child in February 2011 and right from the start we knew this pregnancy was different from the others. By the time I was 6 months pregnant my baby barely moved and the pains were so severe I had to crawl around the floor to get about but I was told by my midwife that I was just overreacting and some babies were just more sleepy than others. By the time I was 30 weeks pregnant I was measuring 13cm over so I was booked in for a scan. Nothing seemed out of the ordinary so we carried on and looked forward to the day he would make his appearance.
On the 16th October 2011 my Charlie arrived (on his due date) and immediately I knew something was wrong. He was so limp I thought that he had died so I was naturally hysterical! After being calmed down I was told that the hypotonia (the floppiness) is quite common in infants and not to worry as it would improve over time. It didn’t. Charlie was taken to SCBU and an NG tube was put down his nose to feed him as he was too weak to suck from a bottle. He eventually started to take small amounts from a bottle and was finally allowed home for the first time when he was two weeks old. His tone hadn’t improved but we hoped it would get better over time but nothing seemed to change. We thought he was doing well but every week his weight stayed the same or he’d lose some. We had a wonderful Health Visitor who would call twice a week and weigh him but even after being put on a high energy milk he didn’t improve. He dropped completely off his growth centile chart and after several visits to doctors (with no answers) we just didn’t know what to do. At 3 months he was referred to a neurologist and straight away he knew something wasn’t right. All babies drool, but Charlie’s secretions were in overdrive and just lying him on his back would result in him lying in a puddle. After watching him feed, the neurologist decided that he needed to be NG fed again as he wasn’t managing to swallow properly. We thought things were starting to look up but he still couldn’t gain any weight.
At 5 months he got very poorly. He got a chest infection and after three courses of antibiotics he was still ill, to the point where we had to call an ambulance and he was rushed into resus at University Hospital of North Durham. It was 18th March 2012, Mother’s Day and that’s when our real nightmare began.
Charlie was stabilised and put on oxygen but there was no real improvement so a team from the Royal Victoria Infirmary in Newcastle rushed through to Durham to intubate him which meant putting a breathing tube down his nose which was attached to a ventilator to help him breathe. He was then transported to PICU in the RVI to be taken care of. It was very touch and go and that was the first of many times we didn’t know if he would make it through the night. He seemed to be improving so after two days the tube was taken out and he was put on a nasal canular and moved to the ward. Within 12 hours he was intubated again and back to where he started in PICU.
Charlie finally stabilised after two weeks and we were asked if we’d consent to a muscle biopsy as they believed that his muscle was the root of the problem. Of course we consented.
In May 2012 we were asked to meet the muscle professors at the Centre for Life in Newcastle to discuss Charlie’s results. We were told that he had a congenital myopathy but they didn’t know which yet as all the more common ones had been ruled out. We were told that Charlie could possibly die, probably before his first birthday as the muscles around his lungs are so weak that he was struggling to breathe for himself. I honestly felt like the world had just crashed on top of me, we were completely devastated. We travelled back to Charlie at the hospital in complete silence, not knowing what to say to each other. I’ll never forget the looks of pity we got from the nurses when we got back. It was like they’d already given up on him and that’s when we decided our little man wasn’t going down without a fight.
Charlie went downhill again very quickly and was put under an excellent consultant at the RVI who has now saved his life on numerous occasions! Charlie continued to be up and down between PICU and the respiratory ward for months but after having a gastrostomy to have a PEG inserted, he seemed to build some strength and finally started to gain weight, looking chubby for the first time in his life!
His excess secretions were still causing problems and after arresting several times due to blockages that couldn’t be reached, we decided to opt for a tracheostomy. Charlie was being fully ventilated by this time and we decided that it would be better all round as his ventilator could be attached to his trache instead of having that awful mask stuck to his beautiful face and it would allow easy access to remove any secretions with his suction machine.
His op went ahead and it was the longest two hours of our lives but it all went well and he recovered very quickly. The training was terrifying but after a couple of weeks it was wonderful just being able to walk around the hospital grounds like a normal family, knowing we were capable of looking after him.
In November 2012, nearly nine months after he was first admitted to hospital he came home to his super excited brothers and sisters. The first few months were very tough, we were terrified something was going to happen but we got through it and by the beginning of this year we had his full diagnosis. He has RYR1 related congenital myopathy, central core disease, bulbar dysfunction and ophthalmoplegia. Charlie is a happy, sociable little fella who likes to be a monkey, nipping and scratching if he doesn’t get his own way but he gives the most awesome cuddles! He’s still very floppy and can’t hold his head up or move an awful lot but he likes to wriggle and dance to get where he wants to be. His eyes don’t move so he needs to move his head to see but his sight seems perfectly fine. He still needs chest physio morning and night but he joins in with his pats now and often goes to sleep while we’re doing it! He has to be suctioned and turned every two hours when he’s sleeping but we have an amazing group of carers that come in four nights a week so we can get some much needed rest and we’re in the middle of planning an extension on the house so Charlie can have his own bedroom and bathroom as he’s camped out in the living room at the minute! He’s still ventilated via Nippy but he does use his Swedish nose through the day (when he’ll leave it on).
Hopefully our brave little soldier will go from strength to strength and prove all the statistics wrong. He’s the strongest and bravest person I have ever met and he continues to smile through everything.
After having our son diagnosed with RYR1 related congenital myopathy we would like to raise awareness of the condition and be there to support other parents and family members with similar conditions.
Love you Charlie Bear xxxxx