Welcome New Families
If you are a friend, extended family member, or care giver for a patient touched by HNRNPH2 genetic mutations, thank you for visiting our site and we hope you find it helpful and informative. Increasing awareness of this rare disorder is one of our primary objectives and families of patients with HNRNPH2 mutations will benefit greatly from your interest in understanding the disorder. Feel free to browse our site and review the resources available, we greatly appreciate your interest!
If you are the parent of a newly diagnosed HNRNPH2 patient, we have something in common with you! A really big something in common. We have beautiful children who we love that have been touched by this odd string of letters. All directors of The Yellow Brick Road Project have children impacted by HNRNPH2 mutations and it has changed the course of their lives, and ours, in a global way. Receiving a new diagnosis, especially that of an ultra-rare disorder, can be confusing and overwhelming, but we want you to know you’re not alone!
At this time, approximately 150 cases have been identified worldwide. We are a small yet enthusiastic and supportive group currently residing in over 30 countries around the world: USA, Israel, Brazil, France, Portugal, Netherlands, UK, Canada, Spain, Germany, Italy, India, and more.
The patients range in age from 7 months-41 years old. Finding each other has been a wonderful, validating, and illuminating experience and we hope that it will help bring you some comfort as well. Please visit our Resources page for helpful information.
There are two studies currently underway on HNRNPH2 genetic variations. We strongly encourage you to register your child and get involved in these two studies:
- Natural History Study, being conducted by Dr. Jennifer Bain, Neurologist at Columbia University. You can contact Dr. Bain at firstname.lastname@example.org.
- Simons Searchlight study.
We also have 3 Facebook support groups: "HNRNPH2 Mutations" is a group for parents, extended family, and clinicians and our private parent support group (exclusive to parents only), "HNRNPH2 Parents Unite" and a support group for grandparents ""HNRNPH2 Grandparents Group." Please contact us at email@example.com to be added to either of these support groups. This is a very supportive group, where parents can feel free to ask questions and share experiences, challenges, and triumphs.
Most importantly, we want you to know we are here for you and though we haven’t met, we think about you and want to connect. Please reach out in any of the following ways:
ProjectYBR@gmail.com / (914) 374-1053
OR the YBRP Delegate in your region:
Trish Flanagan (New York) ProjectYBR@gmail.com (or)
Paula Tyson (Georgia) PTyson@ybrp.org
Nicole Glenn (California) NGlenn@ybrp.org
Tanya Dekoninck (Manitoba) firstname.lastname@example.org
Central & South America:
Andreia Zanelato (Brazil) AZanelato@ybrp.org
Stacy Paddon (UK) SPaddon@ybrp.org (or)
Andreia Ramos (Portugal) ARamos@ybrp.org
Alana Fahey (Adelaide) email@example.com
Vera Udovichenko (Moscow) firstname.lastname@example.org
Kaori Suzuki email@example.com
Israel & Asia:
Esther Ollech (Israel) EOllech@ybrp.org