This article originally appeared in a 2013 issue of the Our World newsletter as part of the All About Me project.

Charlie is two years old and lives in Stanley, County Durham with his mum Kay, dad Stephen, two brothers and two sisters; Callum (11), Phoebe (8), Shay (6), Grace (4). Below Kay tells the Information Point all about Charlie.

This is my beautiful boy Charlie and he has an autosomal recessive form of myotubular myopathy called RYR1 where he inherited two changed copies of the same gene (one from me and one from his dad). This means Charlie, our other children and ourselves are at risk of malignant hypertension, where we could have a severe reaction to certain anaesthetics which can be life threatening. His official diagnosis is RYR1 related congenital myopathy, he has bulbar dysfunction and ophthalmoplegia. He has a tracheostomy and is entirely PEG fed.

When Charlie was born, we immediately realised something just wasn’t right. He was very limp and we actually thought he had died as the hypotonia was so bad. Charlie had no breathing problems but he had a very weak suck so he was moved to a special care baby unit to have an NG tube inserted for feeding. After two weeks he had it removed and was finally allowed home but his feeding didn’t improve and he was rapidly losing weight.

At three months old he saw his neurologist for the first time and he realised that Charlie needed help. He decided he would need an NG put in again and a suction machine to manage his excess secretions that were unmanageable because he was essentially drowning himself. We were sent to the local hospital where they put in his NG but refused to give us a suction machine as they believed he didn’t need it and we were overreacting.

We took him home and carried on but he still couldn’t gain weight and by four months old he’d dropped off his growth centile chart, having not gained any weight for so long. We asked for help from our health visitor and GP but they just said he’d catch up and we felt completely helpless.

At five months Charlie got very poorly. He got a nasty chest infection from aspirating all the time and after three courses of antibiotics with no improvement he became very very ill and we had to call an ambulance to rush him into resus. That was the 18 March 2012, Mother’s Day and little did we know that Charlie wouldn’t come home for another eight months.

Charlie was put on oxygen with no real improvement so a team from The Royal Victoria Infirmary in Newcastle came to intubate him and transfer him to the PICU in their hospital. The next few months were a blur of moving backwards and forwards from PICU to the respiratory ward, being intubated then not, there were nights when we didn’t know whether he’d make it through the night but he fought for his life and came through every time with a smile on his face.

During this time we were asked if we’d consent to a muscle biopsy to try and find out exactly what was happening to our baby and we agreed. This was an extremely difficult time for us as we have four other children who we hardly saw due to being at the hospital all the time and they wanted to know what was wrong with their little brother and when he was coming home but we really didn’t have a clue ourselves so we couldn’t give them any answers. Charlie’s dad also had to go part time at work, eventually having to leave entirely because Charlie needed us.

We also had to move house and away from all of our family and friends to find a house suitable for Charlie’s needs which also meant the other children moving schools so things were very very hard. We finally got him stable enough to have a PEG inserted and he slowly started to gain weight, looking healthy for the first time in his life.

Then the muscle biopsy results were back. We were invited to meet the muscle team at The Centre for Life in Newcastle and we were told that he had a congenital myopathy but they weren’t entirely sure which type but that they didn’t think he would live to see his first birthday. We were completely devastated and didn’t know what to tell our families and how they’d cope with the news so we decided not to tell them, we wanted to see how Charlie coped as up to now he’d fought with everything he had.

We carried on as normal and after he’d arrested several times due to blockages that couldn’t be reached, we opted for a tracheostomy. By this time he was fully ventilated via BiPAP so it would mean that we had access to remove any blockages but also his vent could be attached to his trache and we could see his beautiful face instead of having to wear that awful mask.

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