You never imagined that motherhood was going to be this way. You never knew that being a mother was somehow not going to feel like it was enough. No one told you how the diagnosis of your child was going to change you. And you certainly never knew what your new normal was going to look like and how much joy and love and strength you would find in spite of – or perhaps because of – the fear and grief that accompanies a diagnosis of a rare and serious condition.
Welcome to the world of mothering a child with a rare disease. Welcome to your new normal.
The medical bit…
My son, Nick has a rare genetic condition called Barth syndrome. He is one of only 25 boys in the UK with this condition and there are less than 200 worldwide. Boys and men with Barth syndrome have heart problems (often requiring a heart transplant) and/or a risk of sudden cardiac arrest. Their immune systems don’t always function properly so they need injections to stimulate their bone marrow to make neutrophils to provide protection against life-threatening infections. They can struggle with debilitating fatigue and muscle weakness. Like many other rare diseases, we don’t yet have a treatment, or a cure.
If you’re a rare mum, then you know that there’s so much more to your child than his or her list of medical symptoms – their humour, their smile, their unique personality. While you would give anything to take the disease away, equally you would do anything to protect that other bit that defines who they are. There is so much more to Nick than this list of symptoms – there’s his quick and wicked sense of humour which always makes my day a bit brighter. His stubbornness, his strength of will, his messiness and normal teenage forgetfulness can drive me crazy sometimes but they’re also part of what makes him Nick.
But, in some ways, the fact that he has a rare condition does define him, regardless of what we might want to say to the contrary. How could it not? It influences his every major decision; it even influences the minor ones sometimes, like whether he should use the energy he has to study, or to spend some much needed time with his friends.
I’ve felt privileged to meet quite a few ‘rare mums’ on this unplanned journey. And today, on Mother’s Day, I want to thank you. I know what you deal with on a daily basis, the constant fight to know enough, to be enough. On top of all of that, so many of you have made the extra time to create or volunteer for patient support groups. You choose to look outwards and fight to make life a bit better; sometimes knowing full well that all your hard work and sacrifice might not be enough to help your own child.
To all the mums just starting out on this journey, please reach out and ask for help from this incredible community of like-minded people. Join your child’s represented patient support group and don’t be afraid to accept what they have to offer in the beginning when you’re struggling to get to terms with the diagnosis and you know nothing about this horrible rare disease that has suddenly struck. Learn what you need to learn to manage the condition. We all need to start by doing what we have to do for our child and family.
Once you start to feel a little more comfortable with managing your child’s condition, then it might be the ideal time to offer some of your time to help the mums who are following in your footsteps. You’ll be amazed at the positive difference it will make to you and to your child and it will certainly help your rare disease community.
Then comes the time when you and your rare disease group will need to look around to see what other groups are doing. That’s when signing up to larger umbrella groups like Genetic Disorders UK will accelerate your progress. There is definitely strength in numbers and there are some incredible mums (and dads of course) who are forging new paths ahead and helping to lay down the groundwork for the rest of us. Sign up to participate in registries, research and clinical trials. Sign up to fundraise or volunteer your time or services.
When you’re dealing with a rare genetic condition, you will always have a vital role to play in finding a treatment and a cure. There are so few of us in any given rare disease and our patient support groups need us as much as we need them if we are to find a cure one day. There are 6000 different rare genetic disorders out there and each one is different yet our commonalities greatly exceed our differences. Together we are mighty.
Happy Mother’s Day to all the mums who are fighting to keep their ‘rare’ children alive, well and happy. Happy Mother’s Day to all the mums who are grieving the loss of their precious rare child or children. To all you Mighty Mums out there, ‘rare’ or not– for today at least I hope you put your feet up and enjoy your well-earned day of rest. And thank you to all your loving and supportive husbands, parents, children, family and friends who help you be who you are.
Jeans for Genes and Genetic Disorders UK provide vital care and support services for children with genetic disorders in the UK like Nick. Read more about our work at jeansforgenesday.org