When 3-year-old Hunter was diagnosed with CMT4B3, an ultra-rare disease with no existing treatment, his parents knew they had to take action. Two years and $750,000 later, there's hope for Hunter's future.
In honor of World Health Day and National Volunteer Month, we’d like to share an interview with Hunter's mom, Iris Schultz. Together with her husband, Brett, she co-founded The CMT4B3 Research Foundation to develop a cure for Hunter and other people diagnosed with rare genetic diseases.
We invite you to watch or read the interview below. If you live near Scarsdale, New York, we also encourage you to volunteer at the Foundation’s upcoming event on April 30. Otherwise, you can find opportunities to volunteer in your area on the Vee app.
Could you introduce yourself and tell us about your nonprofit to get started?
My name is Iris Schultz and I'm the Executive Director of Hunter's CMT4B3 Research Foundation. We are a nonprofit foundation set up to fund and facilitate research on CMTB43 and other related neuromuscular diseases. I started the foundation with my husband a little over a year and a half ago because my 4-year-old son was diagnosed with Charcot Marie Tooth Disease Type 4B3, a progressive neuromuscular disease.
When we got the diagnosis, we were just told to take him home, love him, and come back in a year to track the progression of the disease. We quickly learned that rare disease research is parent- and patient-funded and driven. So we started the Research Foundation to push the research forward to develop a treatment. We also want to inspire other parents and families in similar situations who don't know what to do. There's a lot that's unknown in the rare disease world, and we're trying to be as transparent as possible so we can help others.
I want to ask you about the moment between getting Hunter's diagnosis and deciding to do something about it. You were battling doctors for three years to get Hunter the proper testing, and finally, you got the diagnosis. How did you decide to take action?
You know, Hunter's story is a little different. We were always told that there was nothing wrong with him. So as a parent, when you see him behind other children, you're always bringing him to every doctor. We told them, well, he's really small. And they said, “technically, he's in the normal range. Don't worry—he was really small when he was born, but he'll catch up.”
We took him to neurosurgeons, heart doctors, orthopedic surgeons, and any specialist anyone recommended. We were always told there was nothing wrong. We were told we could do genetic testing and we did do that at one point. It all came back negative. We thought, that's great, thank God. But we were still really confused.
When Hunter was around two years old, he wasn't walking. It seemed like there was something really wrong. We got second opinions and still everyone said, “no, he seems fine, he's going to get there.” So we ended up at a different geneticist and they said, “it's been more than a year, let's rerun your genetic testing.” And we agreed.
We were blindsided when we got the diagnosis because I spent the first three years trying to get Hunter services, and everyone was telling us “he doesn't have a diagnosis, he's fine, he doesn't need services. There's nothing wrong with him.” To find out that there's something really, really wrong with my son—it was life shattering. It felt like our world was over. We were heartbroken.
We were in the midst of the lockdown for the pandemic. It was May of 2020. We were completely isolated from family and friends. And we got this diagnosis. It just felt like the world completely ended. We went from having a supposedly healthy kid to now a really sick kid, and the doctors weren't seeing patients, no one was seeing patients. So our first step was to get him to a specialist.
We thought, let's fix him. Something's wrong, let's attack the problem. So we spent all of our energy calling all these doctors who were not seeing patients. We asked them, "when are you going to be seeing patients again? When are you opening the hospital? When are you opening the doctor's office?"
Finally we got him to see the specialists, only to be told there was nothing we could do. At that point, we were already fighting so hard. I remember going to one of the doctors and I asked, what if I did want to do something? What could I do? And she was amazing. She said, “why don't you start by reading the research papers that were written on the disease and then reaching out to the people who wrote the research papers?”
So that's where we started. After doing that—and I read every research paper—I must've sent out over 200 emails to the people who wrote those papers. I was learning all this information. I was reaching out to anyone. And then we spoke to somebody and they connected me with another rare disease mom who developed a treatment for their child.
They successfully developed a treatment?
Her daughter was the first in a human trial for a gene therapy using an AAV9 vector for Giant Axonal Neuropathy. And she did it. And I thought, wow, that's the goal. If somebody else can do it, we can do it.
Now that we're in this world, we’ve met so many families doing this. It's so sad that these families have to take this on. Pharmaceutical companies aren't funding it because there's not a large patient population, and academics don't want to devote their careers where there's not a lot of funding because they have to apply for grants to remain employed. So that's where the patient advocacy groups come in and they make a difference and get all this pre-clinical research funded.
Once there's some progress, then it's easier to gain interest. There are so many families and foundations set up doing this and there are so many success stories. It's being done more and more.
The science is there. That's what sparked our journey. Once we saw what other people were doing, we knew we had to be one of those families. We would do anything. We had to be able to tell Hunter at the end of the day that we did everything we possibly could do to help him.
And it's not only him, it's so many other children. I mean, if we're successful, it's going to be applicable to every person who's suffering from CMT4B3. And what we're learning is going to be applied to other diseases. We're just a little cog in a big system, but it all helps.
On that note, I wanted to ask about your fundraising efforts. Your foundation has successfully raised over $750,000. That's an impressive sum. I'm curious to hear, how did you get started? What has that journey been like?
We had a very supportive network of family, friends, communities, and strangers. I mean, we started fundraising during the pandemic and people weren't really doing in-person events. So last year, the majority of our fundraising was done online. We had a successful peer-to-peer fundraising campaign. We did a big Giving Tuesday online push. Our friends shared our story. It was mostly our friends and family. And they really came forward to support us. I think they saw how hard we were working and the team we put together.
We had a Zoom call when we started this with one of our scientists and he explained everything on the call. We had another patient on the call and I think by showing that the science is there, that it's an attainable goal and that there are patients that are severely affected, that people were moved. But we're trying to broaden our reach this year. We've hit all of our friends up. How many more times can I ask them?
We're actually gearing up for an event at the end of next month. On April 30, we're hosting our first big in-person fundraising event. The fire department in our local community has come forward to hold a fill-the-boot campaign for us. They'll walk around the event with their boots and ask for donations. It's a strong tradition between the fire department and families with neuromuscular diseases.
It's Hunter's birthday next month, so I told him it's his birthday party. We're going to have food trucks and face painters and balloon animals. We're going to have a DJ, arts and crafts stations, and a bake sale. We want it to be a fun family event. We're excited to spread the word. That's the main goal of the day. We hope it raises money, but we really hope that everybody in our community comes out and learns more about what we're doing with the foundation.
We cover all the overhead costs as founders. Every dollar donated goes directly to research. That's part of the reason we started the foundation. If we’re asking people for money, we want them to know that all of their donation is going directly to research. We don't take any salaries, we're completely volunteer-based, and we as founders cover all the overhead costs. We also put in our bylaws that we don't cover indirect costs with our grants, so our money is not going toward putting on the lights at a university. It's all going to the science.
Part of your foundation's goal is to bring hope to other families experiencing similar struggles, and I know that you've organized a support system for them. Could you tell me about how you've come together, where you meet up, how you support each other as families?
It's actually a great story. When we got the diagnosis, we were reaching out to all of our friends and sharing the news. One of my husband's friends said, “this is so serendipitous. I actually have a coworker who's going through a similar situation. Let me connect you guys.”
We connected with them and they were maybe four months ahead of us in this journey, but doing the same exact stuff we were doing, like reaching out to all the doctors and getting all the tools together. We were bouncing ideas back and forth with each other. And they invited me into this Slack group called Rare Disease Crusaders. At that time, there were maybe 20 other families there, all doing the same thing. I remember I spent 3 days just reading everything that was posted on it. There were all these different channels like disease models, gene therapy, fundraising—just a wealth of information. As soon as I joined, people asked me, What can I do? How can I help you? And I was blown away.
Any time we had a question, we would ask the Slack group and somebody would answer. I'm always there answering other people's questions. You just meet these other families and it's amazing to hear their stories. Obviously, we’re all in the same rat race trying to save our kids as quickly as we can. But we all know that we're stronger together. Every success story is a win for us all, and we just want to empower each other.
It actually spun off from Slack. Our friend Ethan Perlstein hosts a talk every week in a Clubhouse Room called The Gene Fixers. He gets industry experts to come and we get to ask questions. It started off just with our group, but now so many people attend.
I'm sure it's invaluable to be part of a community like that. What’s something that most people outside your community might not understand about kids like Hunter and about parents to kids like him?
One, it's really hard for a rare disease parent because no one really knows a lot about the disease, even the doctors. There's a lot of misinformation. I feel like I know more than half the doctors we see.
Hunter’s in his little bubble and stuff. Sometimes kids will ask, why can't he run? Or why can't he do this? Or why can't he do that? I hope it doesn't affect him right now, but I'm obviously very concerned about the future.
On the other hand, he’s a happy little boy. You know, he really does look pretty healthy right now because he can get around. Especially in pictures when you don't see him actually walking. He has a funny gait and he wears orthotics to walk. And, you know, you don't know how bad his vision really is—you just see him wearing glasses like any other kid.
People don't think there's anything wrong. And so they ask, “why is she doing all of this? Her kid's fine.” But he's really not fine because it's a progressive disease and it's life threatening.
He handles it like a champ, though. He lights up every room. I mean, every doctor he sees falls in love with him. We went to a doctor recently at a children's hospital in Philadelphia, and the doctor said, “we were not expecting to see this kid when we walked in.” They were expecting someone so much worse off. He was cracking jokes, making them all laugh, and it's just amazing to see how vibrant he is now.
Hunter’s got to be a resilient kid to be dealing with what he does and still be so happy and light up the room. How do you stay motivated and positive despite the constant challenges that you're dealing with?
It's hard to be upset because Hunter's so happy. He wakes up so happy. Late at night, I can go to bed thinking about everything I have to do. What's going to be tomorrow? Is he going to have nerve pain? Is he going to wake up not being able to walk? But then he wakes up and he's happy and I can't be upset if he's so happy.
We want to do everything we can to keep him as happy as possible for as long as possible. I always say there's nothing more motivating than your own child.
My last two questions for you are, one, could you tell us about something that you're currently working on, and two, if you'd like us to take away one thing from the interview, what would it be?
We're currently working on the fundraiser we have coming up on April 30, the fill-the-boot campaign. A lot of moving pieces are going into it. We're having raffle items and silent auction items and different vendors. It’s a full time job.
At the same time, we're applying for a grant from The Chan Zuckerberg Initiative. It's a $2 million grant for basic science to better understand the disease. We're fundraising but we're also trying to get funds from other sources as well. So it's twofold: fundraising and science. That's basically all we do every day.
What I want everyone to take away from this interview is that you never know what tomorrow is going to bring. You really have to just cherish what you have today. That's the blessing of a rare disease, and having a really sick child, is that I truly just try to enjoy every moment with him and every day with him. And it's really made me more present.
Don't take your blessings for granted and pay it forward when you can.
Editor's note: this interview has been lightly edited for clarity.