This week’s blog shares the story of Kerry Shippey whose son George who was diagnosed with Duchenne Muscular Dystrophy less than a year ago. It provides an eye-opening insight into life pre- and post-diagnosis of a rare condition.
George was our first born son. He took a week to enter this world and finally arrived on 29th February 2008. He was perfect.
As he started to reach developmental milestones, he seemed a little slower than others, but we were advised that boys had a tendency to be slower, all children develop at their own pace and there was nothing to worry about. So we didn’t think anything of it. As a toddler, he tripped up regularly and again we were advised this was normal. Life progressed, and it wasn’t until his brother Jack was born two and a half years later and reached the same milestones that we started to wonder further.
George developed large calf muscles and people would comment to us what amazing muscle definition he had. We have always been a sporty family and spent a lot of time outdoors, swimming etc, so didn’t think anything of it. Little did we know that this was such a key sign.
George progressed through Infants school with some slower learning challenges and lacked concentration but again we were advised that boys have a tendency of this so life continued. It wasn’t until George had just turned 8 and in his first year of juniors that we started to feel he was really struggling and needed further help. He was getting more fatigued, started to complain of pain in his legs, walking more on his toes, and was finding stairs and getting up from the floor much more difficult. We went to watch George in his first junior school sports day and it was very evident that something was wrong, and he couldn’t keep up with his peers at all. The school raised concerns too about his overall physical ability. George was having a course of cranial massage at a local osteopath to help improve his concentration and fidgeting, and we discussed George’s symptoms. The osteo checked his hips which were ok, although he suggested we see our GP as he thought it could be dyspraxia, and we started to research this. It sounded possible.
George was first seen in Basildon Hospital on 14th September 2016 following a referral from our GP and a local physio friend. After being physically assessed we were comforted to hear that the consultant didn’t believe it was neurological and felt a bit more relaxed, although he sent George for a blood test and wanted us to see a paediatric consultant for a second opinion. The next appointment was 3rd October. Our concerns in between were growing as we decided to look up every abbreviation listed on the blood test request, and the reference to ‘Gowers test positive’. We had never heard of Gowers until we looked it up on the internet! The more we researched on the internet what the blood test was testing for, everything pointed back to Muscular Dystrophy.
As heartbreaking and painful as it was, we trawled and trawled. Everything about George’s life journey physically and learning wise was making total sense, but surely it couldn’t be Duchenne we thought! As most boys were diagnosed much younger we clung on to hope that it was a better outcome! On 3rd October 2016 we were back at Basildon Hospital for the blood test results and a second opinion. The Creatine Kinase level in George’s blood was significantly elevated which confirmed Muscular Dystrophy, and we were referred to Great Ormond Street Hospital (GOSH). We talked to the consultant about what we had researched and tried to find any reassurance from her body language. Could it be Becker MD I asked?! She nodded and said a further genetic blood test would be required to confirm a clear diagnosis, and George would now go under the main care of Great Ormond Street. In mid-October we received a copy of the Basildon Paediatrician letter to GOSH with the words ‘Diagnosis: Possible Duchenne Muscular Dystrophy’. Heartbroken, our life journey changed from that day!
On 9th November 2016, our world was completely shattered when George’s diagnosis was confirmed as Duchenne Muscular Dystrophy.
Even though we knew something was wrong for some time, we could never have prepared ourselves for the devasting news. In that split second, our world turned upside down! How could this be happening to our special boy George. He is so innocent, so loving, so kind, so caring, such a happy little boy. Why him? What has he done to deserve this? What have we done to deserve this? What will this mean for him…for us as a family? We are going to lose him….our beautiful boy, to this dreadful disease!! How long have we got…nobody can tell us, but the outlook is bleak and the average life expectancy is mid to late twenties.
I was totally heartbroken. I cried, and cried and cried. I was in shock and absolutely devastated. I felt overwhelming sadness and sudden emptiness of grief. Our son was slowly dying. We are going to lose him. It was like a sudden death sentence. It was ripping our hearts out and there was nothing we could do to control getting him better. Sleepless nights thinking of everything and nothing…trawling the internet day and night to look for a cure overseas, and wondering why there was no cure….anywhere!
All our family were naturally devasted too, but the one thing that Duchenne Muscular Dystrophy can’t take away is the sheer amount of love and care we all have together which will keep us as strong as possible for George.
After his diagnosis life quickly developed into endless weekly hospital appointments and tests, physio assessments, occupational therapist assessments in school and at home for adaptions and support needed, night splints, steroids, muscle biopsy, disabled badge, learning assessments, school meetings for an EHCP and one to one support, endless paperwork, appeals and attending a court tribunal to get Disability Living Allowance, and a wheelchair !
Amongst all the medical and formality mayhem, we had to quickly come to terms with our new journey (as much as you can come to terms with DMD). I suppose it’s more acceptance! We stopped looking at the internet and longer-term impacts. We now live life by the month and we try to enjoy it even more than we did before, creating fond family memories together. We gave ‘it’ a name, and explained he was born with it, and that his friends couldn’t catch it. We explained that there is no cure and the scientists are working hard to find one. George said he wants to be a scientist in future!
George is slowing down at home and school, and cant keep up with his friends. He is getting more frustrated, and falling more frequently. His toes have started to turn inwards and his shoulders are weakening. George has a special chair to sit on at school and home to be more comfortable, and a chair lift for the five internal steps in school is being fitted. He sits on a bench for school assemblies to avoid the floor, and he uses a laptop for longer writing.
We have started to accept our new life journey now. We take George in the car or his wheelchair a lot more rather than walking places locally. We have to find a new house as our family home we have loved can’t cater for future adaptations he will need, and we have quickly learnt that we have to fight for everything on this new Duchenne journey!
George has started karate and playing the guitar, which he loves. He still has life ambitions, he still tells us funny jokes, he still fights with his brother, he still has a great cheeky personality, and he is still our beautiful son George, big brother to Jack, and little brother to Lewis and Daniel. Whilst George’s muscles are getting weaker, we have become stronger as a family. George recently did a powerpoint presentation on Duchenne to his school class, and we have tried to turn our grief and helplessness into determination and commitment to help raise funds to find a cure. It’s the only thing that you can control in this dreadful devastating disease.
We came across the charity Harrison’s Fund through one of its family ambassadors, whose son was diagnosed three years ago. His sister started in the same pre-school nursery and as parents we became friends before either of the boys were diagnosed with Duchenne, which is very ironic! The charity funds research into Duchenne and is our only hope for George and boys like him for a cure or access to better treatments. We have so far raised circa £19,500 for Harrison’s Fund this year and will continue to do everything we can to beat this disease once and for all.