Oliver was just three months when he was diagnosed with Duchenne Muscular Dystrophy in 2015. He was our first child and during my pregnancy I'd given some thought about him having heart problems and diabetes in his future, as it was a family condition but I never thought of anything as cruel as this would happen to us. In fact, prior to our diagnosis I had not even heard of Duchenne Muscular Dystrophy.
I was a typical new mum, unsure of myself and relying on Google to help with those 'mum worries'. One day I noticed that his stools seemed so pale compared to what I had been told to look out for on the postnatal ward. I Googled it and the Internet brought up all sorts of results for possible liver problems; I was so scared that I took him straight to our local GP who agreed that it would be beneficial to undergo further tests. We were sent to our local hospital in Stoke Mandeville, Aylesbury.
There Oliver had several blood tests carried out and the results were baffling, because he appeared to be a healthy and thriving baby, yet his results would indicate otherwise.
We were referred to the liver specialists at Kings Hospital where further investigations by means of blood tests and liver scans were carried out. The results came back three weeks later and although it didn't highlight any issues, the Consultant was keen we undergo a few more tests at our local hospital Stoke Mandeville. Here more tests were carried out which is when they noticed Oliver's Creatine Kinase samples were higher than normal.
Elevated Creatine Kinase levels were found in a blood sample, which is an indicator that the muscle is being destroyed by some abnormal process; in our case it was the worst result. A DNA test two weeks later confirmed it was Duchenne Muscular Dystrophy.
Duchenne is a fatal neuromuscular condition caused by the lack of a protein called dystrophin which results in progressive muscle weakness. One in 3,500 boys is born with Duchenne muscular dystrophy in the United Kingdom each year and there are currently around 2,500 boys and young men with Duchenne. Their average lifespan is just 20 years and it is 100% fatal.
At that point is was literally like it was the end of the world and the joy about having your first child ripped from us. Life as we had known it would never be the same again.
Due to Oliver being so young, he wasn't displaying any obvious symptoms of the condition so at the start we were just introduced to our framework of healthcare staff, support and then six months later the twice a year hospital visits at Great Ormond Street Hospital (GOSH) began.
For the next few years we just kept an eye on him along with our twice annual visits to GOSH for his check-ups but then around three years old he started displaying some of the common signs; falling over a lot, being clumsy, not keeping up as other children at nursery. Even though we knew about his diagnosis to see it affect him is heartbreaking and it was like living through the diagnosis all over again.
The diagnosis was extremely difficult to deal with but finding out early was the best thing as it has given us time to plan and prepare for the day to day practicalities as much as possible. We've put in preventive measures such as getting nursery and pre-school involved so they knew to monitor him closely and share any changes with me or my husband.
We were able to ensure there was an Educational Health Care Plan in place for him prior to starting pre-school to ensure he had the same opportunities as his peers.
The diagnosis changed so much and had a domino effect on all our big decisions. I decided to take 15 months off work with Oliver so I could spend time with him whilst he was mobile and like any other child in those early days. We also made the decision to have another child soon after diagnosis as we kept thinking we could lose Oliver at any time (we didn't realise at the time what a slow degeneration Duchenne was). We had only ever thought about having one child but with Oliver's diagnosis that all changed and we had to go through Pre-implantation genetic diagnosis IVF, to ensure my eggs weren't a carrier of the condition.
A year after his diagnosis in February 2016, we decided to move from our home in Leighton Buzzard to Crawley West Sussex to be closer to family. We needed to find a more accessible home which had the potential for extensions and adaptions in order to make room for Oliver's every changing and growing needs. As his symptoms get worse over time, eventually he will have to go into a wheelchair permanently. I was three months pregnant at that time with my other son, Max who is now two, so it was a tough decision but the right one for us a family.
Our latest visit to GOSH in January this year has shown that Oliver is improving slightly but we know that currently, without research, there is still very little hope for our family. All we can do is focus on ensuring he is a happy and confident child, which he is, as his physical decline is out of our hands.
Oliver is a wonderful little boy with pure zest for life and he can do so much that I would not have expected. He loves swimming and his favourite toy is a Mercedes ride on car which he loves driving around the neighbourhood but the condition is clearly beginning to take its toll on him. As he gets older he is more aware of his physical limitations which at such a young age is heart-breaking.
In 2017 he was admitted to hospital twice for infections that started as common colds and then last August he was at soft play last year, he slipped and fractured his left tibia as a result of his Vitamin D levels being so low from Duchenne. He now has a wheelchair which he uses as he can only walk for up to 10 minutes at a time so he has this to manage his levels of fatigue and tiredness. On long walks we have to push his balance bike for him as he can't manage it himself for very long. Simple things that define a childhood are being taken away from him.
We came across the charity Harrison's Fund on Facebook and after speaking to its founder, Alex Smith, it was clear how much raising awareness and money to fund research meant to him, not just for his own son, who also suffers from Duchenne, but for any child with the condition. It has been great to have someone local to talk to, listen and be there for support. My husband has been raising money for them with various activities and now it's my turn, so I am hosting a brunch in June 2019 for the charity's Harrison's Brunch campaign. It's just my way of giving back for everything they have done for me and all the other families going through the same, to give our boys a life past childhood.
Bhavine Patel, Oliver's mum, Crawley, 43
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