I remember once when I was younger, my mum telling me about someone she knew who cried to the song Auld Lang Syne. I remember being baffled by this and thinking ‘why on earth would someone cry to that song’? The song after all represented, for me, a time of happiness, of celebration, of family and new beginnings. But how things change because now I can’t remember the last time I heard it and didn’t at least have a lump in my throat.
Each new year represents another year that we have lived without my dear brother Mark, it’s another year of watching Duchenne take its grip on Luke, another year with nothing to treat him, which ultimately means another year closer to Duchenne’s inevitable outcome, an outcome so terrifying to me that I dare not think too much about it.
But this year, while I have no doubt I will be sitting sobbing at my TV watching the new year count down and looking over my Christmas photos of the boys, I’m determined to keep those good old meanings of new year and make it a time of happiness and celebration again. But we can’t celebrate new year without reflecting on the year that we are saying goodbye to, and what a year 2016 has been.
This year has had many ups and downs in my world as a Duchenne advocate. Delays at the beginning of the year for the 2 most advanced drugs to treat the underlying causes of Duchenne had me on tenterhooks for a while with hope fading for a treatment; we discovered that all the places were full and indeed, there was a waiting list for a trial for a new drug that could help Luke; I had a trip to Washington to help our American friends advocate for approval of Exondys 51, and while it turned out ok in the end, this was one of the most emotionally exhausting experiences of my life; and as the year draws to a close, I am still in the same position that I was at the end of last year – watching a progressive, life limiting condition take hold of my son with no real treatment possible in the coming few years.
But as 2017 dawns, I do feel more hopeful than I did last year because despite all the downs, 2016 has also been filled with positives. This year, 2 drugs were granted conditional approval and made available to boys with Duchenne (one in the US and one in Europe). Neither of these drugs will directly help Luke and when they were approved, I cried, like the floodgates have opened kind of cried! For the most part these were tears of sheer joy. For the first time ever, at least some boys would have a chance and I could actually feel the relief of the parents who were about to receive a drug that could help to prolong their son’s life, and because one of these drugs uses a technology that will help Luke in the future. It’s approval has given me real hope that I just might get a drug in time for Luke. But I must admit, and I know the parents of the boys on these drugs will understand, I also cried tears of sadness and envy (known in inner Duchenne circles as Mutation Envy), because it’s not fair that some boys have a drug and Luke, my cousin Brian Og and so many others don’t. After all, Duchenne has already taken so much from my family. Was my brother and my 3 uncles not enough?
This year I became chair of the Northern Ireland Council of Muscular Dystrophy UK (MDUK), giving me a real opportunity to help make even a small difference to the lives of people living with all types of muscle wasting conditions in Northern Ireland. The drug development process is very slow and there’s only so much fundraising I can do, so working to improve care for people with Muscular Dystrophy in Northern Ireland helps me to feel like I am doing something, however small, to help Luke and others. If my dream comes true and we get a drug that will help to prolong Luke’s life then maybe he will have some years in adulthood and I want to be sure that, if he does, he receives the best care possible and working with the council allows me to work towards that.
My Duchenne family has grown. This year I had the opportunity to meet many families that I had only known online before and I met entirely new families including 4 here in Northern Ireland. These people, are a huge part of my life and while I wish I didn’t know them (given the circumstances), I sure am glad I do, and I look forward to many years of continued friendship and mutual support with them. What amazes me most about these people is how they make me laugh. We are all facing exactly the same thing, all dealing with it in our own ways and maybe that gives us a special bond, I don’t know… all I know is my Duchenne family is awesome.
This year, Duchenne provided me with personal opportunities and experiences that I would never have had if it hadn’t reared it’s ugly head back into my life. I went to St James’ Palace this year and met Prince Philip; I went to an Advisory Committee meeting of the FDA in Washington and met some of my DMD heroes; my fundraising group, Leap for Luke, was recognised for it’s fundraising efforts for Muscular Dystrophy UK, and I got to meet Sue Barker. But those experiences hardly compare to how Duchenne changed me personally this year. Anyone who knew me up until recent years, will know that I am that quiet, shy, maybe socially awkward girl at the back of the room, always willing to let others take the lead, to speak up. Afraid of any kind of role that might put me on the spot, force me to talk to people I don’t know or even express an opinion. But this year, I accepted a leadership role with the NI MDUK council, I was interviewed and had 2 appearances on separate independent TV channels, I had at least 4 radio interviews, I gave speeches to hundreds of people, some of them colleagues, some acquaintances but mostly strangers, and I made my opinion known any time I had the chance. So thank you Duchenne, not for increasing my confidence, but for providing me with impeccable acting skills, now I can act confident and I think I’m pretty believable :-).
But this year has also taught me that I am just one person. I have never been as busy as I have been this year. Being a mum to 2 young boys as hard work, add Duchenne to the mix and it gets harder, add in a job and what sometimes feels like a full time voluntary role and you soon find both your time and energy dwindling fast. I know that I need to work out something that will allow me to do what I feel I have to do to save Luke and improve his future quality of life, while also being able to provide for him and then actually spend time with him and his brother. Something will have to give. I don’t know what the answer is but 2017 is the year I’m going to find it.
So as I sit now to reflect on all that has happened in 2016, I’ll take some time to acknowledge the harsh realities of the situation but I won’t focus on them. I’ll focus on the incredible successes that my fellow Duchenne advocates will achieve in 2017, I’ll focus on the difference that families, the health care team and the MDUK team here in Northern Ireland will make in improving care in NI, I’ll focus on building those friendships within my Duchenne family and I’ll focus more on my one and only goal in life… saving my son.
I’ll probably not be able to see my screen through my tear filled eyes on New Years Eve so I’d like to take the opportunity now to wish you all a very happy, hopeful and focused 2017 :-).