Running for Rare - Fundraiser for rare genetic disorders

Hi as everyone knows Our Lina was diagnosed with a very rare genetic condition called PRPF8 related nuerodevelopmental disorder.

She is one of 14 cases worldwide and currently the only one recorded in the UK.

Unfortunately as this condition is so newly recognised, there is little to no information about it and not many others to connect with for support.

What we do know is that linas condition has caused her several brain abnormalities including microcephaly, severe ventriclomegaly, dysplastic corpus callosum and white matter loss. meaning she has significant learning delays , ADHD, anxiety and is high risk for having seizures. She also has feeding issues, cyclical vomiting, bowel and bladder issues, hypotonia and eye problems.

She is also high risk of developing certain cancers and heart problems.

We as a family are taking part in The Sutton Fun Run on Sunday 1st June

Either running or walking alongside pushing lina in her pushchair.

We want to raise money for Rare Disease UK as their focuses are

Better care for genetic, rare and undiagnosed conditions. Such as getting a timely diagnosis, having better coordinated care and accessing more treatment options, no matter where you live in the UK.

Meaningful progress in medical research. Led by the views and voices of people living with the conditions being researched.

Boosting awareness of genetic, rare and undiagnosed conditions. Making it easier for others to understand what life with these conditions is like.

Improved information and support for people living with a genetic, rare and undiagnosed condition. Ensuring that people with these conditions are more informed and can connect with others

Any donations to help us and other families in the same position as us would be greatly appreciated

Thank you