No one asks for a mutation to their SMAD4 gene. No one asks for the appointments for every system in the body that seem relentless and never let up. No one wants to deal with the every day reality of Myhre Syndrome. But we all share this common struggle in some way whether it's through yourself or a child or a family member. It is hard.

My hope with this blog is to share the weekly highs and lows from a personal perspective of someone with Myhre so that we don't feel so alone in our struggle. We need to shed light on the darkness as well as celebrate the good. My name is Patti Schultz for those of you who don't know me. I was diagnosed with Myhre after a 50 year odyssey to find out what was wrong with me. My hope is to open an honest dialogue for us to just get through the day/minute/hour sometimes.

This week is a good week. The audiologist replaced the hooks in my hearing aids for no cost and stopped the ever lasting squealing in my ears.
I, also, have a few down days without appointments - a well needed break.

I hope this post finds you or your loved one well. If not, know that we at the Myhre Syndrome Foundation are here for you. From supporting the latest research to building a resource section to just being a listening ear, we have your back. Contact me any time at pschultz@myhresyndrome.org. Let’s talk!