Hayden as a baby was happy, interested and expressive. He enjoyed attention, interaction and unusually plenty of sleep! He reached all the usual milestones at the right times, or slightly early, with one exception, mobility. He showed little interest in crawling, and didn’t attempt the usual ‘cruising’ activities – he was quite happy to sit and play. At 18 months a first few tentative steps were taken, and it was clear that something was not quite right – he walked with his ankles collapsed inwards. With no change in walking ability by 24 months, trips to the paediatrician gave the verdict that he had ‘floppy tendons’, and these would strengthen over time. With no improvement by 30 months, Hayden was referred for physio, and the use of sturdy ‘Pedro’ boots to provide ankle stability and help him to stand without the ankles collapsing. At 36 months, and not much improvement (he couldn’t jump, run, climb stairs, he was unstable on his feet, fell over a lot, and his mobility was much much slower than his peers at nursery) we were again referred to paediatrics.
The January 2012 appointment revealed that yes, he had particularly flexible joints, but that we should do a routine blood test to rule out a couple of very unlikely possibilities, including a CK (Creatine Kinase) count to rule out any form of muscular dystrophy (the first time we had heard of this term). The blood test result took a couple of weeks, and we expected a normal count of 300, but a phone call revealed his count was 31000!. A retest was needed as confirmation, plus a further blood sample needed for the genetics lab to analyse possible causes, Duchenne was now being talked about, and the possibility was mentioned that Hayden may have a life limiting condition. The second blood test confirmed the high count, and on 14th Feb 2012 the genetics lab result confirmed what we had hoped not to hear, Hayden has Duchenne.
Over the next 6 months our world turned upside down, we had 16 separate appointments with different professionals. Neuro-muscular specialists, Cardio-gram appointments, teams of paediatricians, physiotherapists, home occupational health therapists, nursery and school occupational health specialists, social care teams to name a few. We spent hours combing the internet trying to find information on the disease. Dawn had genetic tests confirming that the fault in Haydens Dystrophin gene was a one off mutation rather than a hereditary flaw. We had the dilemma of how much information we should reveal to Hayden and Ellie (our daughter, Haydens elder sister). Hayden took all of this in his stride, he has no problems with needles and enjoys the attention of nurses and physio’s (must be a uniform thing at an early age!). He has taken well to his ‘Robo-cop’ night splints, and the series of muscular stretches we have to put him through each and every night.
For Dawn and myself it was an emotional rollercoaster, with so many appointments in such a short space of time, the gravity of the issues we will face over Haydens lifetime have and will take a long time to sink in, we found ourselves simply living day to day, carrying on the usual daily tasks, and trying hard to continue happy, normal, family life. Really tough days included applying for disability living allowance for Hayden, receiving his disabled ‘blue’ badge, having bannisters and frames installed in the house so that he can use the stairs a little easier.
Hayden started at the local school in September 2012, and absolutely loves it. We’d had our concerns, he preferred to play with children a year younger than himself – they were not confident in their mobility either, his peers were just too fast and had too much energy, and he felt vulnerable. But at school the other children just seem to understand he is not as mobile as them, and go to extra lengths to involve him, particularly those a couple of years older – perhaps its because he is such a happy, cheerful chap. The school teaching staff have been great, and academically and socially he is thriving. Our goal, and the wishes we have expressed to the school is that he is an ordinary boy, who just happens to have weak leg muscles – he can’t keep up with his peers, and still falls over a lot (though his confidence is improving!), but this does not stop him from engaging in all the activities his class mates undertake.
So what of the future ? Well Dawn and I still spend much time researching the condition on the internet. There are so many hopes pinned on research and clinical advances to arrive at a treatment or a cure. We are hesitant about the ‘default’ path of steroid treatment, though it tends to delay when a wheelchair is needed, the behavioural side effects need to be considered – do you trade a childs mobility for the happiness of the child and the joy of the home environment? We have also cancelled a wheelchair referral appointment – Hayden knows his legs don’t work very well, he knows he has muscular dystrophy, but we felt that now is not the right time for Hayden (at the age of 4) to realise that this is the likely future.
Haydens dystrophin flaw is unusual, and is not within the Exon range that the ‘Skipping’ trials are currently targeting – the drug companies are rightly concentrating this effort on the most common Exons (to treat the largest section of Duchenne boys), however Utrophin upregulation, or synthetic dystrophin are our real hopes at this stage. We spend much time trying to raise awareness of the condition with friends, colleagues, employers, as well as fund raising for research, and have made new friends and contacts as a result. We continue to have a full and happy home life, doing all the things you’d expect a family with young children to do, it just seems a little more urgent to enjoy things that require mobility sooner.
As a family, we wish to thank all those that have leant help and support in whatever way over the last year, and all those who will join with us for Haydens ‘journey’ in the future.