Lucy McKay grew up watching her mother grow a rare disease patient support group into a trail-blazing charity. Her eldest brother was affected by MPS II which led her mother to found the MPS Society. Lucy grew up alongside the patient group and when she went to medical school was surprised by how little attention rare diseases received.

Thirty percent of children born with a rare condition die before their fifth birthday which means that mothers & children are at the heart of those affected. Although Findacure work with parents of both genders, the majority of the groups we work with are formed by, run by and powered by mums. Mother’s Day serves as a time to celebrate motherhood and in the rare disease agenda, mum’s are at the heart of what patient groups can achieve. These mothers work tirelessly to raise awareness of their child’s condition, providing essential support and developing research. After training to be a doctor, Lucy now raises her daughter whilst working in the field of rare diseases. She re-entered the world of rare diseases herself by founding a rare disease group at University. This has now grown into the national charity Medics4RareDiseases, and she is now its CEO. Lucy‘s life as a mother & daughter has influenced her work/life balance, fears and views on gender inequalities. 

 

BECOMING A MUM

“I am not a carrier of the condition that my brother died of, before I was born. I have known my carrier status since I was a child. But it was only when I became pregnant with my daughter that I truly realised the privilege this had given me. The opportunities and freedoms I had because I didn’t inherit the affected X chromosome that would leave my sons with a 50:50 chance of having a devastating condition. No difficult conversations about genetic conditions, no detailed planning of pregnancies, no pre-implantation diagnosis. This leads me back to the quote by Nelson Mandela “For to be free is not merely to cast off one’s chains, but to live in a way that respects and enhances the freedom of others”. This quote applies so widely, whether we’re talking about gender issues or rare disease issues. It is not enough to think – this isn’t my problem or it doesn’t affect me. The world is small and what affects our neighbours in other countries, next door or in our families, affects us. 

“I can’t walk away from this transgenerational experience thinking that I never have to think about rare disease again because I’m not a carrier. There is still so much work that can be done to improve the lives of those living with rare diseases and sharing my experiences led to the work of M4RD. Rare disease can affect anybody so nobody can sit back and think that rare diseases aren’t relevant to them.”

“Being a mum has definitely made me more nervous about personal financial stability than I ever have been before. It also makes me want to stay at home more rather than jet off places! However it has made my work all the more poignant.”

 

LIFE AS A WORKING MUM

“Initially it was difficult because I only took 2 months maternity leave. My daughter was born in November and we had our annual symposium in mid-February. It was my decision to start work again in January and I was brilliantly supported by my team. When you are working for an organisation you have created this is the reality – I had to oversee and host our biggest event of the year. Some may think that working and having a tiny baby would be horrendous but actually I found it helped me keep a sense of who I was, other than a new mum. I would breastfeed while sending voice memos to my assistant! Her boy was also small at the time so we often did the majority of our work before 8am. I was lucky that this worked out for me and I know that this is not common. Of course it was stressful at times but, all in all, it was a positive experience that I think shaped me as a mum. These days being a mum and doing this role is a challenge mostly because of the price of childcare! However I am very lucky with my role. I work from home and I can work flexibly e.g. in the evenings. So my daughter can go for short days at nursery and then I can do more work when she has gone to bed. Now she is older I don’t do work in front of her, not least because she would immediately want to answer my emails.”

 

KEEPING THE BALANCE

“My daughter is only little but I am keen to show her the example of having a good work-life balance. This is particularly important to me because in order to achieve the great things that my mother did there could be no work-life balance. I feel I missed out on a lot of her in terms of her time and who she was outside of the charity. I think this is something all parents in the rare disease community need to be mindful of. Most people fall into this field because of a personal experience such as the loss of a child and it can be all-consuming. It is important for me that my daughter knows that when I am at work, I am working and when I am with her, I am with her.”

“Rare Disease month is the biggest challenge for work-life balance. It’s the one time of year that it goes out the window. But at least it can be anticipated each year and then the rest of the year is calmer. I am lucky to have big and supportive family who understand what February means for me.”

GENDER EQUALITY

“Yes I think there is an equal role for mothers and fathers – no one type of person can be an advocate. There are brilliant examples of mothers, fathers, aunties, grandparents of people living with rare disease becoming advocates – Dr Will Evans, Karen Harrison and Rebecca Stewart come to mind. It is also an area of work that I would feel comfortable taking my daughter to if I had to. I know she would be welcomed and nobody would be put off by the loud shouts of “DAT!”.”

Lucy’s experiences as a child have influenced not only her career but her influence as a mother. Imagine your child being diagnosed with a disease so rare that there is no know­n cause, no treatment, no information online, and no support group to turn to. Imagine feeling that no-one, not even your doctors or friends, understand you.

This is the situation facing millions of mothers and parents across the UK today. Because while rare diseases are individually rare, having a rare disease is actually common, and experiences of isolation, desperation and loss of hope are far too frequent.