Two Stone families are trying to raise awareness of Pitt-Hopkins syndrome, a rare genetic syndrome caused by mutations in or deletions of the TCF4 gene.
Saturday 18th September is Pitt-Hopkins Syndrome Awareness, and two Stone families got in touch to tell us about the condition.
Natalie Cashmore’s 7-year-old son Alfie was diagnosed with the syndrome in February 2021, and she reached out to Pitt Hopkins UK, a charity set up by parents of children with Pitt-Hopkins syndrome. The charity provides help and information to support families impacted by the condition.
As the syndrome is so rare, an important role of the charity is to connect families across the UK and the wider world.
Natalie was told that unusually there was another PTHS family living close to them. In fact, the family also lived in Stone, Staffordshire. Leah Herbert’s 9-year-old son Ben was diagnosed with Pitt-Hopkins syndrome in September 2019.
Both mums have now been able to get together and share their experiences with each other.
Leah told A Little Bit of Stone just how rare the disease actually is:
“Pitt-Hopkins Syndrome isn’t just rare, it can be classed as ultra-rare because it only occurs at a rate of about 1 in 225,000 to 300,000. That’s something like 4 cases in a million people!
“It’s very difficult when your child has a rare condition because even most doctors know very little about it. It’s been fantastic to meet up with Natalie and to chat with someone in the same situation”
Pitt Hopkins UK is a very small charity, and the awareness day on the 18th of September aims to raise the profile of Pitt-Hopkins syndrome among the general public and the medical profession.
To learn more about Pitt-Hopkins syndrome and Pitt Hopkins UK, visit their website
https://pitthopkins.org.uk/
