In 2021 at the age of 2, our gorgeous boy Niall was diagnosed with a rare genetic condition called Coffin-Siris syndrome. As of last year, there were only approximately 200 reported cases worldwide. With this condition being so rare and only being recognised in 1970, there is very limited research available.

What we do know about this syndrome Is that it can affect the brain, heart, kidneys and respiratory system. It is linked to autism and ADHD, developmental delay and 1 in 4 are non-verbal.

However, through it all, Niall continues to amaze us everyday with how far he has come, how determined he is and how he takes everything in his stride with a huge smile on his face and the most infectious laugh

But, it is not just our family and Niall going through this. Everyday families are living with the effects of a rare condition. 1 in 17 people will be affected by a rare condition at some point in their lives. The average patient receives THREE misdiagnoses, consults with FIVE doctors and waits FOUR years before receiving a diagnosis. Some people have to wait over 20 years to receive a final diagnosis.

Genetic Alliance UK work with their membership organisations and senior decision makers in the NHS, the Government and Parliaments in across the UK to ensure rare conditions can be diagnosed faster and care for people living with rare conditions is better coordinated. They make sure the voices and needs of the rare community are heard and reflected in rare disease legislation and healthcare policy.

Like many charities, their donations have been significantly impacted by the cost of living crisis. They urgently need your support to continue their vital work. If you can, please donate or simply share this page so it reaches more people.