The past year has been tough for everyone; but for some, it seems to have brought challenges above and beyond what we would expect to have to deal with during a global pandemic. Good school friends of mine, Hannah and Rhys, were over the moon about the arrival of little Ophelia, their beautiful baby girl, in June 2020. This was welcome and joyful news for all of us and it provided some happy relief from global events. Over the first few months of her life, Ophelia started to develop subtle symptoms prompting a visit to her GP. After numerous investigations and a lot of anxiety, she was very sadly diagnosed at 5 months of age with something called Canavan's Disease, an incredibly rare genetic metabolic condition which affects her brain and for which there is currently no treatment.

Action Medical Research For Children are a charity which fund research into various childhood conditions including rare diseases. As you can imagine, funding at the moment is focussed very much on research into COVID-19, meaning that charities like this are hugely dependent on donations from the public. Recent breakthroughs in gene therapies for other genetic neurological conditions such as Spinal Muscular Atrophy mean that the technology and expertise that would make a treatment for Canavan's possible do exist.

Over a third of deaths in under one year olds can be attributed to a rare disease, making them the second most common cause of death in this age group in the UK behind prematurity. Prematurity, stillbirth and rare childhood diseases hold significance in both my professional life as a paediatrician, and my personal life as a friend and family member, making this a very important charity for me.

I'm so grateful to Hannah and Rhys for allowing me the privilege of being a part of theirs and Ophelia's journey - I hope I do you proud! I will be running the London Marathon in October 2021 for Action and will keep you updated on other fundraising activities I have planned between now and then. Ophelia's family and I will be so thankful for your support and donations. I have no doubt that you'll be moved by their story and I invite you to share your own reasons why research into childhood diseases is especially important to you.