Climbing Ben Nevis

Natalia Parrish is raising money for PACS1 Research UK
Donations cannot currently be made to this page

Climbing Ben Nevis · 28 August 2018

PACS1 Syndrome is a very rare genetic condition caused by mutation of the PACS1 gene. There are just 100 cases that have been identified worldwide. Diagnosis is typically done using full genome or exome sequencing. Both methods are expensive and not easily available. There are likely many more cases out there, that will eventually be reported as people learn about the condition, and testing becomes more affordable and available. Our charity is trying to raise awareness of PACS1 and contribute to further research and support of people with this condition.

Story

Thanks for taking the time to visit my JustGiving page.

We are raising money and awareness of a rare genetic condition PACS1. My youngest daughter Nina is 11 years old and was diagnosed with this condition in July 2015. There are only about 70 children and young adults in the world diagnosed  with PACS1. There is a small group of geneticists in USA who are working on research of this condition. Thank you for making donation to this charity, which will help to understand how to assist people who are diagnosed and to make others aware of this rare condition.

Natalia Parrish

Donation summary

Total
£525.00
+ £86.25 Gift Aid
Online
£525.00
Offline
£0.00

Charities pay a small fee for our service. Learn more about fees