Why Knowing Your Child’s MECP2 Mutation Matters 

08/09/2025

At Reverse Rett, we’re currently reaching out to families of registered patients to make sure we know exactly what kind of MECP2 mutation their child, young person or adult with Rett syndrome has. 

🌟 Why This Matters  

Knowing your child’s exact MECP2 mutation may open the door to future treatments, research, and trials. 

  • Targeted genetic therapies are in development. Some of these may only work if we know the exact mutation. 
  • Eligibility for future trials. Being “ready on record” means no delays when opportunities arise. 
  • Helping the whole community. Your child’s data powers UK research and funding decisions. 

🔬 Powering Research That Drives Change 

The Rett Registry UK, the UK’s only national Rett syndrome patient registry collects mutation data to: 

  • Show how many children in the UK are affected 
  • Map which mutations are most common 
  • Give companies and researchers the data they need to design better trials and prove to funders that treatments are urgently needed 

Every single record makes the case for treatments stronger. 

📢 What You Can Do 

✅ Step 1: Log into the Rett Registry UK app and check your child’s record. 
✅ Step 2: Look for “Confirmed” next to their MECP2 mutation. 
✅ Step 3: If you don’t see it—or you’re not sure—contact the Registry team. They’ll help you confirm or retrieve the details. 

💜 You’re Not Alone 

By taking these few steps, you’re: 

  • Helping your child’s future 
  • Supporting research that benefits every UK family affected by Rett syndrome 
  • Staying connected to the latest updates and opportunities 

👉 Check or update your child’s details in the Rett Registry UK  

Help if the person I care for  

has not had an MECP2 test <link to letter requesting test> 

has had an MECP2 test and it came back negative <link to letter requesting additional WLPA test>

has had the MECP2 test, but I can’t find the results <link to letter asking GP for a copy of the results> 

has had the MECP2 test but I don’t understand the results <email to [email protected] asking us to help with the interpretation>