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About PACS1
PACS1 syndrome is a rare genetic condition that affects how a child moves, communicates, eats and learns. This page explains what it is, what it means for families, and why we fund research.
What causes PACS1?
PACS1 syndrome is caused by a change in a single gene, called PACS1.
Almost everyone with PACS1 syndrome has exactly the same tiny change in the gene.
The change is almost always new. It happens by chance rather than being passed down from either parent, which is why most families have never come across it before. Nothing a parent did, or didn't do, caused it.
It's usually found through whole genome or exome sequencing. These tests are expensive and not always easy to get, so many more children are likely to have PACS1 than have been diagnosed so far.
The condition was first described in 2012, and is sometimes called Schuurs-Hoeijmakers syndrome after the researcher who identified it.
How it affects children
Every child with PACS1 is different. Many share some of the same challenges, and most need support with everyday life.
Movement
Many children sit up and walk later than others. Most learn to walk on their own, and some need help to get around.
Speech
Speech is usually the area most affected. Many children use some words, but they can be hard to understand, and many also communicate through signs or devices.
Eating
Feeding can be difficult, especially in the early years, and some children need tube feeding.
Seizures
About half of children with PACS1 have epilepsy. For most it's controlled with medication, but for some families seizures are part of daily life.
Learning
Children with PACS1 have a learning disability and need support to learn, play and stay safe.
This is general information, not medical advice. Your child's doctors and genetics team are the best people to talk to about your child.
Children with PACS1 grow into adults with PACS1. So care has to last a lifetime.
Many will need care long after their parents are able to give it, and today that usually means moving into a residential home, away from family. The Whole Life Village is our answer: one safe place where care, therapy, learning and family life can carry on for good.
Explore the VillageWhy research matters
PACS1 has only been known for a little over a decade, so there's still a great deal to learn. Funding research into the condition, and into treatment and care, is one of the reasons the charity was set up.
The questions families most want answered:
- How does PACS1 develop over a lifetime?
- Which treatments help with seizures, feeding and movement?
- What makes the biggest difference to quality of life?
- How can more children get a diagnosis, sooner?
Has your child just been diagnosed?
You're not on your own. Families of children with PACS1 are connected around the world, and talking to someone who has been there can help more than anything you'll read online.
We're not responsible for the content of external websites.
Help fund research and the Village.
£59,974 raised towards £150,000 so far.