After an unexpected discovery during his daughter’s routine eye exam, Joe Mescher was diagnosed with Fabry disease, a rare genetic disorder. Seeking advanced treatment options, Joe turned to Mount Sinai’s Division of Medical Genetics , where he found access to cutting-edge clinical trials under the expert care of Jaya Ganesh, MD .
Mount Sinai’s commitment to advancing treatment options for rare diseases is exemplified by their Genetics Clinical Trial Office , which supports groundbreaking research, including gene therapy trials. These trials hold the promise of transformative treatments and potential cures, offering new hope to patients like Joe and his daughter.
Joe’s story reflects Mount Sinai’s role in providing more than just clinical trials—it’s a place where patients receive comprehensive support and are part of the future of medicine. Mount Sinai continues to lead the way in genetic research, bringing new possibilities to those facing rare and complex disorders.
We're here at the Burlington Vermont Airport and it's always an exciting day because I'm headed to Mount Sinai. So I'm going to New York. I get on my flight to laguardia and you know, my bags all packed. I'm ready to go. I was a little kid. I was in the little league actually. And I just remember being so hot on a sunny day that I, I went up to my dad and I just, it was near tears. I was unable to take the literal heat outside. I always had to be the kid who would go seek some shade or jump in the pool to cool off and I never knew why. And I guess I just thought this is normal. This is just the way I react to my environment. And I, I thought it was something wrong with me. And so that's kind of how I went through life. The way that I found out was absolutely amazing. I have uh twins and I have a daughter and so the condition was passed on to her. But the way we found out is she had an appointment with her eye doctor. They did an eye test and the doctor was very sharp and she noticed these world patterns in her eyes and she said, you may wanna, you know, look into this. And Fabre was, you know, one of the possibilities I just had this moment where I said, that's me, the results came back that I had classic brain. Most patients with rare diseases usually go to multiple physicians before the diagnosis is made. The diagnostic Odyssey can be upwards of over a decade. So you're talking about patients and families struggling for years trying to find an answer about what's going on. And for those patients who perhaps live in smaller cities, the process can be even longer. Actually getting the diagnosis was kind of one of those moments that was I I have to say it was refreshing because it cleared up a lot of unanswered questions and it made me feel like, oh I'm not broken. We are the last stop for most of these patients. And here at Mount Sinai, one of our goals is really to promote treatment for rare diseases. We have a dedicated genetics clinical trial office which is clinical trials of patients with rare diseases using cutting edge technology. The strategy now is now that we are able to diagnose these things better and quicker. What do we do? How do we improve treatment options? The question is, can we do something better? And that is where gene therapy comes in? Clinical trials are important because that's the bleeding edge. That's where the most profound breakthroughs occur. Once I heard that there were clinical trials available for gene therapies, I just knew that's what I wanted to pursue. The trial started in earnest. Really in January of this year, gene therapy has become a major part of early stage clinical trials, the ability to really transform and cure some of these disorders. There was a tough road looking for the right study. That's been a lot. It can be heavy at times. But also I I wouldn't have it any other way and I do it again in a heartbeat because I just have this hope that I'll get better. Do we get low? And then we do a double high five. Let's do it. And I'm also doing this because I'm a father and I love my kids with all my heart. So if I can help contribute to moving the process along in a direction that helps others including my daughter, it's all gonna be worth it. When I walk through the doors of Mount Sinai, I feel blessed. I feel like I know I'm going to be cared for. We provide a home for patients with rare diseases, not only to help establish the diagnosis but really provide them all of the services they need. After that, we are just at the precipice of what's possible for solving so many illnesses that not just me but other people are suffering through
