Myhre Syndrome Foundation

Help Us Establish the Myhre Foundation in Australia: contribute to create hope for effective treatments, procedures and a cure for people like Felix.

This Christmas was different for us— having made it home from hospital after spending most of the month of December at Wollongong and Westmead hospital for another heart procedure for Felix. It is a stark reminder of how profoundly our lives changed in 2024. It was a year that brought both joy and difficulty with the arrival of our beautiful boy, Felix.

Felix is now 5.5 months old, and half of his life has been spent in hospitals and at countless medical appointments since he has been diagnosed with Myhre Syndrome. 

The syndrome is a rare genetic condition caused by a 'de-novo' mutation of the SMAD-4 gene. De-novo means it happened by chance, a one in a million chance. Myhre is also progressive in nature. That means new issues can happen any time and progression of existing disease. More information can be found here: https://www.myhresyndrome.org/what-is-myhre-syndrome

Day-to-day life is challenging as Felix’s has a complex congenital heart condition called Tetralogy of Fallot and critically small pulmonary (lung) arteries. These issues make it very difficult to repair the hole in his heart. He also has difficulty with eating, weight gain, digestion and pain.

He has recently started an experimental drug treatment in case the pulmonary arteries are not growing due to fibrosis (scar tissue). We have been told the difficult truth that the prognosis remains life-limiting, there are not many available treatments and there is the potential for a lot of complications because the combination of Myhre, small pulmonary arteries and the heart condition make for an extremely difficult case. 

Since Felix’s Myhre diagnosis at just two months old, we have been in contact with the Myhre Foundation in the United States. This incredible organisation has made remarkable strides in a short time, building a strong international community of researchers and clinicians dedicated to understanding and treating Myhre Syndrome. Through their efforts, Massachusetts General Hospital now operates a dedicated Myhre Clinic that Felix’s doctors have consulted to manage his complex case.

Why Start the Myhre Foundation in Australia

Inspired by the work of the Myhre Foundation in the United States, we are establishing the Myhre Foundation in Australia as a partner institution. Our goal is to raise funds and create partnerships locally that will advance precision medicine and genomics research. Rare diseases like Myhre Syndrome urgently need innovative, collaborative approaches to accelerate progress.

Through this foundation, we aim to:

Support research in Australia to develop targeted treatments for Myhre Syndrome and help patients like Felix at the bedside.

Advocate and create a network of researchers and clinicians locally that understand Myhre syndrome so they know how to treat the body systems that may be affected.

Support the network for families and patients in Australia.

How You Can Help

Starting this foundation is a deeply personal mission for us, driven by the desire to give Felix—and children and adults like him—a chance at having a life. But we can’t do it alone.

We’re asking for your support to help establish the Myhre Foundation in Australia. Once we set up the foundation, all future donations will all be fully tax deductible for donors.

Your donations will help fund essential research and provide hope for families like ours navigating this rare and difficult diagnosis.

Every contribution, no matter how small, brings us one step closer to finding better treatments.

Specifically, this fundraiser will cover all the administration costs of starting a foundation. Anything outstanding will be used towards researcher time.

For Felix, next steps are to continue losartan for three months to see if it made any difference to the size of his pulmonary arteries. Continue opening/replacing his stent as he grows to promote blood flow for growth that is needed for heart repair.

If you would like to support our cause, please donate via this page.

We named Felix after we learned that it means 'happy' and 'lucky'. We believe we can fulfill his name sake and we have big hopes for Felix and his special helix.

Thank you for being part of this journey with us.