In 2009, at 28 years old Dave, my rugby playing, police officer husband started walking like he was drunk. On a holiday to Spain with friends, he suddenly lost the ability to wear flip flops, they would fly off his feet – it was the running joke of the holiday. Fast forward a few months and he started to have falls, walk with a limp and experience painful spasms in his legs. This was less funny – although we were still not overly concerned, he was young and apparently healthy, we thought perhaps a trapped nerve or a slipped disk was to blame.
What followed was the worst three years of our lives.
A report published by Rare Disease UK found that the average rare disease patient consults with five doctors, receives three misdiagnoses and waits four years for their final diagnosis. This was certainly our experience. Dave was subjected to appointment after appointment where various consultants would shrug their shoulders and an endless round of blood tests, MRIs, lumber punctures and nerve conduction studies. It was made clear to us that it was serious, neurological and degenerative – he wasn’t going to get better, in fact he was going to get worse. Then came a series of misdiagnoses: First MS, then Primary Progressive MS, then Spastic Paraplegia and then PLS (a rare form of Motor Neuron Disease). Watching someone I loved so much grapple with all of this was the most painful thing I have ever experienced, and I felt helpless to do anything.
It was an awful, lonely time. We felt isolated and lived a day-to-day life of fear and uncertainty. We were frustrated and terrified.
Finally, in 2012 he received the formal diagnosis of Adrenomyeloneuropathy (AMN) – a rare genetic metabolic condition. Even the consultant wasn’t expecting to give us a diagnosis that day. We had met him for another routine appointment and a print out of Dave’s latest blood tests, which were handed to the consultant by a nurse during the appointment, had thrown up the result. He stumbled over his words as he gave us the news and Googled the condition in front of us.
The initial feelings were those of relief. Finally, we knew what was going on, the exhausting battle to kick down every door and shout loud enough to get a definitive diagnosis was over and we could begin to access the help and support Dave desperately needed but was so difficult to obtain without a medical label. But the diagnosis also bought with it the reality of a potentially frightening prognosis and snatched our future away. This wasn’t meant to be part of the life we had planned together – we were newlyweds, had just purchased our first home, both enjoyed our jobs and were planning on travelling, having fun and then perhaps starting a family.
Whilst he was undiagnosed Dave and I would have long conversations where we fantasised about being told it was something temporary, a phase, treatable and would get better or change. That’s hard to do when you have a diagnosis and we went through a long period of grief, mourning the life we thought we were going to have. However, when the shock began to wear off, we entered a period of adjustment and started to look at things more practically. My own ignorance and prejudices surrounding disability initially prevented me from envisioning us ever having a happy family life, but you learn to adapt, to assimilate and a future started to emerge albeit most definitely not the one we had planned or hoped for.
Getting in touch with Alex TLC and attending their family weekend shortly after Dave’s diagnosis was central to us starting to find a new way forward.
Dave is now 40. He uses a wheelchair most of the time now and lives with the uncertainty that for some people with his condition the prognosis is terminal. Despite the constant daily challenges he faces because of his condition, he still works full time as an Inspector in the Metropolitan Police and I am incredibly proud of him.
As time went on, we began to learn more about Dave’s condition. He had a less aggressive adult onset form of a gene mutation that is usually terminal for little boys before they reach the age of ten. The knowledge that he may not have had a childhood, made Dave determined not to be overcome with fear about what might happen in the future, to make the best of each day – focus on the happy moments and not let disability be a barrier to experiencing everything that life has to offer and that included having our own family.
In 2014 we welcomed our twin boys into the world – Max and Jake who were conceived via PGD IVF to ensure Dave’s condition was not passed onto the next generation. The boys adore their wonderful dad and argue about whose turn it is to hitch their scooter to his wheelchair when they are tired!
Christmas to us now is all about the children – visiting Father Christmas, the panto, wrapping presents and trying to contain the excitement of two very energetic 7 year old boys!