Thank you so much for registering for the first national sponsored walk to help fund research to find a cure for children suffering with the debilitating, ultra-rare mutation of the HNRNPH2 gene. Firstly, a bit about Autumn and the other kids who suffer with this:
Autumn tell mummy what’s wrong?
Autumn often gets frustrated. She can’t communicate what she wants. She doesn’t understand the world. She can’t do things other kids can do. Why can’t people help her? We started to be concerned about Autumn’s development when she showed no interest or ability in walking. Then she wasn’t talking. She wouldn’t play with her toys. When her peers were learning to count she was learning to stand. After nearly 2 years of consultations, scans, and pokes and prods we were finally granted genetic testing. We discovered Autumn has an ultra-rare variant of the HNRNPH2 gene.
What the hell is HNRNPH2?The HNRNPH2 gene drives the neurodevelopment of a wide range of our abilities. Its 'partner' gene, HNRHPH1, switches off once you are born. Just under 150 children worldwide have been found to have a ’misspelling’ in the H2 gene. These variants cause the gene not to be as effective in coding cells as we develop. Unfortunately, this tiny misspelling causes a huge impact on every aspect of our children's lives, physically, cognitively and socially.
Many H2 kids are wheelchair-bound, non-verbal, and have digestion issues. They have challenges learning and often have social anxiety, seizures and many other issues we are still discovering. They need 1:1 support, professional care, and all the love and attention they can get.
There is hope....
Funding the cure
Animal studies have discovered that by turning off the faulty H2 gene, the H1 gene can ‘turn back on’ and compensate by encoding cells correctly. The Yellow Brick Road Project is a charity set up by HNRNPH2 parents that is funding research to understand better how H2 impacts children and how a cure could be developed for future human trials. Autumn and her H2 friends could have their lives changed in our lifetimes. We can help them. The walk is along the picturesque Grand Union Canal in England on Saturday 9th and Sunday 10th September 2023. We are planning a celebration drink at a pub near the finish at Milton Keynes.
Where will the money we collect go?
The Yellow Brick Road Project will receive 100% of the donations. All other costs associated with the walk will be covered by the Shaw family or the walkers themselves.
The YBRP goal is to raise £ 230-400,000 to fund research projects to identify outcome measures and the development of a drug and cell line testing, the next phases toward reaching clinical trials.
YBRP maintains minimal overhead and operating expenses and all board members and officers are volunteers, no board member or officer receives any compensation for their services. Approximately 70% of funds raised are dedicated to funding research, 20% to patient engagement/outreach & raising awareness, and 5% to operating expenses.
About the walk
A core team will attempt to walk 100km in 24 hours, starting in London and ending in Milton Keynes. The distance you cover will be up to you, from 100m to 100km.
You will have a choice:
- You can meet the core walkers along the route. We will inform you of where they will be at specific points and times. or...
You can walk along whichever part of the Grand Union Canal you wish. or....
You can walk by yourselves, in your location at a local venue
It will help our planning if you indicate below which of these you plan to do, if you know.The critical objective is to raise as much money as possible to help find a cure for the children of HNRNPH2.
Please complete this short registration form.
Once registered, you will be sent further instructions about the day, Here is the link to share with people to sponsor you.
We will send you updates and draft social media posts that you can use.
Thank you so much for taking part. We want everyone to be safe, have fun and raise money for the children with the HNRNPH2 mutation and find a cure.
