Today is Rare Disease Day, which falls on 28 February every year, or on 29 February every leap year. Rare Disease Day 2025 is my first year raising awareness, since my daughter was diagnosed with a rare disease in January of this year.

Rare Disease Day seeks to raise awareness for people all over the world living with rare disease. There are over 300 million people worldwide living with a rare disease, and there are over 6000 rare diseases that have been identified. A disease is rare when it affects fewer than 1 in 2000 people.

The road to diagnosis of a rare disease can be long and complex, as was our experience with my daughter. My daughter suffered with a number of symptoms, which were often considered in isolation. She has been under 4 different consultants specialising in different areas of medicine.

There have been many days and nights spent in hospital, with multiple appointments, blood tests, biopsies, and investigations. In our daughter’s case trips back and forth to A&E, without a clear understanding as to what was causing her recurrent illnesses. It was a constant worry on my mind to try and get to the bottom of it. I often used to question myself, whether it was just general childhood illnesses, as some had suggested, or something really serious. As her mum I knew there was something else going on, and trying to piece together a very complex puzzle played heavily on my mind.

Diagnosis can often take time, from referral to the first consultant to diagnosis, it has been over a year, but symptoms had been ongoing since she was a baby. Even now with a diagnosis, there is scepticism from clinicians, further questions unanswered. Little information has been provided and I have had to undertake a lot of my own research. Conflicting information has also been difficult to unpick.

There are so many rare diseases yet to be discovered and for those that have, there is much more to be understood. Research takes time and resources, and the aim of rare disease day is to bring awareness, so those living with rare disease can have the best quality of life possible. Also to enable more research to ensure that there is access to the right care and treatment, if available, and to make diagnosis easier and quicker.

Parenting a child with a rare disease for me has been daunting. Some days I feel empowered to tackle the challenges ahead and others fearful and worried. I feel grateful we can work towards the most comfortable life for our daughter, now we have a diagnosis, even though it is difficult and impacts us every day. Having a movement such as Rare Disease Day, brings hope for the future for better understanding, and equity in healthcare for those living with rare disease.

My daughter is a true testament of resilience, having had so many tests at such a young age, and she smiles through. I am so proud of her and how she loves life. She is a ray of sunshine and keeps me pushing forward for her.

My hope is that the awareness for rare disease spreads far and wide and those living with rare disease can access resources and treatment to help them live the best life they can.

Rare Disease Day is a global movement with 106 countries involved, and hundreds of events worldwide. Rare Disease Day UK is run by the charity Genetic Alliance UK, which helps to fight for improvements for the 3.5 million people living with a rare condition in the UK.

I would be grateful if people could join me today in spreading awareness. Rarerdiseaseday.org has lots of information and resources and also has printable lesson plans for children to help them understand how rare disease affects others.