Family Resouces
Facing a Myhre Syndrome Diagnosis: Navigating the Journey Ahead
We understand that receiving a Myhre syndrome diagnosis can feel overwhelming. The road ahead may seem daunting as you try to absorb new information, manage medical appointments, and adapt to the challenges this rare condition presents.
At the Myhre Syndrome Foundation, we are here to support you every step of the way. To help you and your loved ones through this journey, we've compiled a list of resources designed to provide information, guidance, and connection. Whether you’re looking for clinical insights, patient support, or family resources, you’ll find valuable tools here to assist you.
Important Information
Patient Registry
By contributing to the Myhre Syndrome Registry, you help researchers better understand the progression of the disease. Participation is voluntary, but the data collected is critical in advancing research and identifying new potential treatments.
Patient & Family Handbook - Read & Take This To Your Care Team
A comprehensive guide offering essential information about managing Myhre syndrome, including medical care, developmental milestones, and living with the condition. Available in multiple languages.
Emergency Information
In an emergency it’s important that care teams are aware of the complexities of Myhre syndrome.
Expert Talks from Myhre Doctors
Learn directly from experts in the field of rare diseases and Myhre syndrome via our YouTube channel. We host regular research Q&A session and have content from multiple virtual and in-person Myhre syndrome conferences that provide updated research insights and answer common questions from patients and caregivers. Look under Playlists to help navigate key topics and events.
Latest Clinical Data
Read the latest clinical research data from the Myhre Syndrome Clinic at MassGeneral in Boston. It gives an overview on symptoms and progression for 47 Myhre patients between 2016-2023.
Doctor Directory
Here you’ll find doctors who have treated Myhre patients, we’re keen to add to this list so please let us know if you’re got an amazing Myhre doctor that you’d like to add to the list.
Working Towards Treatments
Research Roadmap
We are actively pursuing a research roadmap aimed at identifying new treatment options. This includes projects like creating cell models, conducting biomarker studies, and collaborating with scientific institutions globally to advance drug discovery and therapeutic development. Keep up to date with research via our News section.
Support For You & Your Family
Events
Family & Patient Research Q&A: Monthly discussions led by our Chief Scientific Officer, Armelle Pindon, on the progress of Myhre syndrome treatments, ongoing studies, and patient support topics.
Coffee Hours: Each month we come together as a global community to chat informally, get to know one another and share experiences. Always so insightful!
Support Organizations
A list of support organizations including financial, transport and activities. We have not personally vetted the organizations so please use this guide as a starting point.
Patient Experience - Myhre & Me Podcast
Listen to real stories from families, caregivers, and individuals living with Myhre syndrome as they discuss their personal journeys, challenges, and triumphs.
Patient Experience - Myhre & Me Blog
Written by Patti, this blog highlights firsthand experiences with managing Myhre syndrome.
Additional Resources
Research Library
Here you can dive into research papers written on Myhre syndrome.
We know there’s a lot to take in, and you're not expected to navigate this path alone. If at any point you need help, guidance, or simply someone to talk to, our foundation is here for you. These resources are intended to give you the knowledge, support, and hope you need as you move forward on this journey. Together, we can work toward a better future for all affected by Myhre syndrome.
Please contact Kate if you need further guidance or support - kwears@myhresyndrome.org
