Our guest this week is Mike Graglia of Palo Alto, CA. Mike and his wife, Ashley, are parents to two boys John (3) and Tony (8) who was diagnosed with SynGap 1, a rare genetic disorder.
We’ll learn about Mike’s eclectic career including being a Peace Corps volunteer in Namibia, as well as working at: the World Bank, Boston Consulting Group, the Bill & Melinda Gates Foundation, Hewlett Packard Enterprise, New America, and Emerson Collective before jumping in full-time at the SynGAP Research Foundation in a quest to find treatments and a cure for those who diagnosed with SynGap1.
It’s a fascinating story and one we’ll hear this week on the Special Fathers Network Dad to Dad Podcast.
Website – https://www.syngapresearchfund.org
SynGAP 10 Podcast – https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818
Email – email@example.com
LinkedIn – https://www.linkedin.com/in/graglia/
Evans/Graglia YouTube Video – https://www.youtube.com/watch?v=lLO2hsAi4-M&t=37s
Markings, by Dag Hammarskjold – https://www.amazon.com/Markings-Dag-Hammarskjold/dp/0307277429/ref=sr_1_1?crid=29SWGH2XQVPUY&dchild=1&keywords=markings+dag+hammarskjold&qid=1634252838&sr=8-1
Tom Couch: Special thanks to Horizon Therapeutics for sponsoring the Special Fathers Network Dad to Dad Podcast. Working tirelessly to research, develop, and bring forward medicines for people living with rare and rheumatic diseases. Discover more about Horizon Therapeutics’ mission at horizontherapeutics.com.
Mike Graglia: You got to go connect with other dads. I mean, I mentioned Daniel before, and Bo Bigelow was another one who I have a lot of time for. Like you’ve just got to realize that when your child has a rare disease or has special needs, your world just got much smaller, and a lot of your existing friends, and family, frankly, are going to take longer to get it.
And so you’ve got to build a different community of peers for your own mental health and wellbeing. And so every dad with any kind of challenging kid I think needs to connect with other dads and other men.
Tom Couch: That’s our guest this week, Mike Graglia. Mike is the father to two boys, John, three, and Tony, eight, who was diagnosed with SynGap 1, a rare genetic disorder.
We’ll hear the story of Mike’s life, including his stint as a Peace Corps worker, and his current occupation, finding treatments for those who have SynGap 1. It’s a fascinating story, and one we’ll hear this week on the Special Fathers Network Dad to Dad Podcast. Say hello now to host David Hirsch.
David Hirsch: Hi, and thanks for listening to the Dad to Dad Podcast, fathers mentoring fathers of children with special needs, presented by the Special Fathers Network.
Tom Couch: The Special Fathers Network is a dad to dad mentoring program for fathers raising children with special needs. Through our personalized matching process, new fathers with special needs children connect with mentor fathers in a similar situation. It’s a great way for dads to support dads. To find out more, go to 21stcenturydads.org.
David Hirsch: And if you’re a dad looking for help, or would like to offer help, we’d be honored to have you join our closed Facebook group. Please go to facebook.com/groups and search dad to dad.
Tom Couch: Now let’s listen in to this discussion between Mike Graglia and David Hirsch.
David Hirsch: I am thrilled to be talking today with Mike Graglia, Palo Alto, California, the father of two children, a former Peace Corps volunteer who had an eclectic corporate career, including stints at the Boston Consulting Group, the Bill and Melinda Gates Foundation, and Emerson Collective, to name a few. And for the past four years he is the founder and managing director of SynGap Research Fund.
Mike, thank you for taking the time to do a podcast interview for the Special Fathers Network.
Mike Graglia: Thanks for having me, David. It’s a real honor to be here.
David Hirsch: You and your wife, Ashley Evans, have been married for nine years and are the proud parents of two children, John, three, and Tony, eight, who at age four was diagnosed with SynGap 1, a rare genetic disorder.
Let’s start with some background. Where did you grow up? Tell me something about your family.
Mike Graglia: I was born in Switzerland. My parents are European. My mom’s a Brit, my dad’s Italian. I was raised in the UK until the age of seven, and then moved to sunny Southern California.
David Hirsch: And did you have siblings when you were growing up?
Mike Graglia: Yep. I’m the oldest of four. I was version one. They got better with every iteration, but there’s four of us.
David Hirsch: And have any of them gone back to England or Italy, or are they all here in the US?
Mike Graglia: My sisters are both still in California. My brother served in the armed forces and married a wonderful lady in Germany, so he now lives there.
David Hirsch: Okay. Good to know. So, out of curiosity, what is it that your dad did for a living?
Mike Graglia: He was an engineer, so he followed a career opportunity to Southern California and never left. Still there.
David Hirsch: Well, there’s worse places to end up in than Southern California. So how would you characterize your relationship with your dad?
Mike Graglia: My dad’s a great guy. He’s worked hard, raising four kids on one income. I don’t really know how he did it, but it was a lot of work. He’s now almost 80 and he’s in, I’d say, medium health. I have tremendous respect for him.
David Hirsch: Excellent. Well, I’m sort of curious to know if there’s an important takeaway or two when you think about your dad that you’ve tried to incorporate into your own parenting. Or a lesson that you’ve learned for that matter.
Mike Graglia: I think one lesson that I missed was I should have had kids younger, like he did. It’s something he got right. There were ups and downs in our family’s life. And I think the one thing I took away from my dad—and as I was thinking about it, anticipating you would ask me a question like that—is my dad just never gave up. It was always about the kids. No matter what life threw at our family, it was always about what’s best for the kids.
At some point they moved from one town to another for better school districts, even though it meant a much longer commute for him for the foreseeable future. And so that kind of blind devotion to doing what was needed for the kids turned out to be a lesson that hopefully I took on board.
David Hirsch: That’s fabulous. Well, not everybody has a dad who sort of stuck through thick and thin and who would make decisions like that, “What’s in the best interest of my children or my family, versus myself or my career, for that matter.”
And you don’t see that maybe at the time, but you can look back and say, “I really appreciate some of the sacrifices that my mom or my dad made on my behalf.” And that’s exemplary. So thanks for sharing.
So I’m wondering if there’s any other father figures, grandfathers, or other men, who played an influential role in your life as you were growing up.
Mike Graglia: No, unfortunately, one of my grandfathers passed before I was born, and the other one died the same year. So I never met either of them. I think being the oldest of four, I very quickly had to fend for myself. My parents had other children who are more capable of hurting themselves to deal with.
We were really active in the Roman Catholic church where we live. My dad’s Italian, so I’m genetically Catholic, and then I went to a Jesuit university. So as I think about that question, I had a lot of wonderful mentors of different religious orders, mainly the Jesuits. I think I had a spiritual director at Gonzaga that was just a wonderful man, Father Costello. Oddly, a lot of priests were great guides and mentors for me through the years.
David Hirsch: Okay, so from an educational standpoint, my recollection was you got a BS in math and computer science from Gonzaga University, an MBA in finance and management from Columbia University, as well as a master’s degree in Southeast Asia, and international economics from Johns Hopkins University.
When you completed your initial education, your undergrad, I was wondering, where was your career pointing? What were you thinking you were going to do from a career standpoint?
Mike Graglia: Yeah. I had no idea. I was a math major. I was 20, I was graduating from college. And I went to a presentation, and some guy was there, the head of the math department. It’s like, “You guys all need to come tonight.” And the math department at a liberal arts university, there’s like 20 math majors and there’s like five math professors, because they had to teach everybody basic math. So it’s like a little family. And they’re like, “Come to the presentation.”
So I showed up to the presentation late, and there’s this man in a nice suit, and he’s talking, and at the end of it he says, “Basically, if you pass a lot of math tests, you’ll have a great career.” And I was like, “Oh, thank God. That’s what I’ll do.” And so I went off to be an actuary for about a year and a half.
I should probably have just stuck with that, now that I think about it. But after a year and a half, I had taken a lot of math tests and was doing fine, but I was getting a little antsy because I was 22. So I decided I should join the Peace Corps, and I would just come back and go back on the actuarial progression.
But Peace Corps is an incredible time. And I came back, and I decided that grad school might be smarter and that was sort of the way it went. But if you’re a math major, being an actuary is where you get pointed. And I was like, “That sounds great. I need to make money. I have loans.”
David Hirsch: So my recollection was that, when you were in the Peace Corps, you were in Namibia. What did you do there?
Mike Graglia: When you join the Peace Corps, you have to qualify for a skill, and then you get told which countries need that skill. So I had signed up to be a math teacher, because that was basically all I was good for. I got shipped off to Namibia, which was tricky, because when they called me and said, “You’re going to Namibia,” I looked at a map that was more than five years old, which is how old the country was. So I couldn’t find the country.
I thought I was pretty good at map reading, so I was a little nervous that I couldn’t actually find the country they were sending me to. But when I realized that the map was older than the country, that sorted that out. My day job was teaching math, which sounds easy, but I was teaching math in a war zone where ten years prior to that everyone who was a white male had had a gun on and was explaining to the children I was teaching that they were genetically incapable of doing math. So that was tricky.
And then it was also a country where they had just thrown out somewhere between a half and a third at the National Blood Bank, because it was all HIV positive blood. So I did a lot of HIV prevention in my spare time, and taught math to people who had been told they weren’t good at it, and that wasn’t true. But it was an incredible two years. I mean, the political and social history of Namibia is really remarkable, and I’m really glad I did that.
David Hirsch: Yeah. Well thanks for sharing. We could probably have a whole other conversation about your Peace Corps experience and some of the things you experienced. But what an eye-opening experience at a relatively young age for anybody to have, to go away, to put the situation we have in the US in perspective. The things we just take for granted, like breathing air. And you know that that’s just not the case for everybody on the planet. So thanks for sharing.
So my recollection was that you became a project officer with the International Finance Corporation as part of the World Bank Group. Then from there you were a project leader at the Boston Consulting Group, and then you were a financial manager at the Bill and Melinda Gates Foundation. And then a senior manager of strategy and transformation at Hewlett Packard Enterprise, and then Director of Future Property rights at something called New America, and then a Director of Budget Planning analysis at Emerson Collective, which is Laurene Jobs’ organization, and then now the founder and managing director of SynGap Research Fund for the last four years.
And you’ve had an amazing corporate career. And one of the things I admire most about you, Mike, even though we haven’t known each other very long, is that you had the confidence or the courage to hang up your corporate career and dive in full-time on a not-for-profit basis. And I’m wondering if you can reflect on that decision, whether it was like an easy-peasy, or how did that decision come to be?
Mike Graglia: Yeah, it was a progression, so you’re very kind to call it a good corporate career. It was sort of a series of interesting decisions, right? So I was at the World Bank trying to save the world, and I did that for a few years, and then I was like, “Eh, I might have specialized early.”
And I’d also had some experiences in Africa that I was like, “I need to break.” So that led me to management consulting, which is great training for anything. And then I was fortunate to be recruited to the Gates Foundation. And then there’s a series of things after that.
And what happened there is I married my beautiful wife while I was at the Gates Foundation, and her career took us to California from DC. And at that time our son Tony, while not yet diagnosed, was clearly having delays and having issues. So I started selecting for jobs that had a lower travel burden and were closer to our home.
So whenever you look at a career path like mine, there’s always another story, right? So the family was a factor there. And I was so fortunate in my last role to be at Emerson Collective. You alluded to Laurene Powell Jobs. Amazing organization, does amazing work, and it was in my backyard. And I thought, this is amazing. I can just do this.
And at that point, I had already started SRF, which we’ll talk about later. But at that point, it was early, and it was naive. You know, the F in SRF stands for Fund. So when my wife and I created SRF, it was basically the idea that we would raise funds and accelerate science. And we thought it was that simple—and we were wrong.
And in the first two years, I continued to have a day job and managed SRF as a volunteer at night. And in those two years, the need for a functioning organization in any rare disease is great. And as we were building one, people just flooded in, and opportunities to do good work flooded in.
And about a year and a half ago, just before the pandemic, my wife looked at me and she said, “This is ridiculous. You’re working really hard at Emerson,” because budget and planning at a place as complex as Emerson is a lot of work. And she said, “You’re working all night on SRF, and this is crazy. I’ve got a good job. You don’t actually need to work.”
And it was strange. I think for a podcast focused at fathers, you know, men can relate. Having a job, having a cool business card, having an income that you think is respectable—these things are all part of being a man. And I should just be lucky that I accidentally fell in love with a beautiful woman who has way more success than I do. And she looked at me, and she said, “You know, the SRF is important. Why don’t you just do this full-time?”
And it took me longer than it should have to say, “You’re right.” Like, it wasn’t like, “Oh yeah, you’re right. I’m going to quit tomorrow.” No, no, no. It was months of me being like, “But what does it mean that I don’t have a job? And what will people think of me?” But the truth is, my wife’s very smart. It was the right decision. And once I was able to look at it through the lens of: this is a blessing that I even have the luxury of making this choice.
And you know, the reason I do what I do all day every day for no pay is I firmly believe that by creating and building this organization, I’m increasing the probability that there will be some meaningful improvement in my son’s life, because someone’s going to develop a therapy for him. If I didn’t believe that I wouldn’t do this.
So once I got that clarity—back to the Jesuits, right? Once I took a moment to do some discernment and really say, “Okay, what matters? And when I look at this decision from my deathbed, what will I be proud of?” it was a no-brainer. But it in the moment when you’re caught up in ego and, “Well, I have to have a job or people won’t think much of me,” it was not obvious. But looking back, I can’t believe I didn’t do it sooner. Because I’ve never worked so hard. There’s so much to do. I hope I answered your question.
David Hirsch: Oh yeah. You hit the nail on the head. And like I said, I so admire you for having the confidence or the courage to forego that, “Who am I?” You know, the identification that a lot of men, myself included, have with their business card. Part of our identity is what we do from a work standpoint.
I think I shared this with you in a prior conversation. I’m still straddling the world of for-profit, not-for-profit, maybe not as successfully as I’d like day-to-day. But I haven’t had the conviction or the courage like you have. So I hold you up on a pedestal from that perspective.
But I want to roll the clock back a little bit. You’ve made reference to your wife Ashley a number of times, and how smart she is and the role that she’s played. I’m sort of curious to know, how is it that you met?
Mike Graglia: She took my yoga class. And generally it’s not encouraged for yoga teachers to hit on or marry their students, but it happens. I have taught yoga since back in the World Bank Days. One of my first yoga teachers was a guy in Kenya. It’s fun. It’s a whole other story for another time, but yoga has always been an outlet for me, a way to keep myself sane and fit. It’s a really special practice.
When I was a BCG consultant, flying around Jersey and New York doing pharma, I would land, and go right to the studio and teach a class on Thursday, teach a class on Friday, teach a class on Saturday, and Monday morning I’d go off and fly somewhere again. It was a huge part of my life.
And my wife was an ultra-marathoner, and luckily for me, she hurt herself on an ultra-marathon. And only thing she could do is take yoga. But of course she’s a bit of a high achiever, so she was getting bored in the yoga classes, and she said to someone, “I’m a little bored, but is all I can do.”
And they’re like, “You should take Mike’s class. Mike’s crazy.” And so she took my class, and I just fell head over heels in love with her. That was in March, and we got engaged in December. I had no idea what kind of a professional powerhouse she was and what I was getting myself into, but it was the best decision I ever made.
David Hirsch: Yeah. Well, thanks for sharing. So I’m sort of curious to know, what is it that Ashley does professionally?
Mike Graglia: She’s a private equity investor for a great company called the Carlisle Group. So she is part of their tech practice. That’s why we moved from DC where Carlisle is headquartered to Silicon Valley where we live now. She’s part of the leadership team for the technology investment group. It’s a remarkable position that you don’t hear much about, because very few people have the luxury of doing it, but that’s what she does.
David Hirsch: Yeah. Well, as a professional investment advisor, you don’t need to tell me any more. I completely understand. And now I can put in perspective the proposition that she made. Which was, “Hey, you know, I think we’re going to be okay financially. You know, if this is something that you feel strongly about, why don’t you just do this full-time?”
And the thought or image that came to mind is that you said, I think verbatim, “I wish I would’ve made the decision sooner,” which I often hear when people are talking about their knee replacement. You hobble around for an extended period of time because you want to put it off until you think it’s absolutely necessary, and you finally get it done and you’re like, “Well gosh, why did I wait so long? I was going through all this pain and suffering.” So anyway, thank you for your transparency, which is another hallmark of yours.
So let’s talk about special needs, first on a personal level and then beyond. So I’m sort of curious to know, prior to Tony’s diagnosis, did you or Ashley have any exposure to the special needs community?
Mike Graglia: I don’t think Ashley did. I think back when I was in college, in hindsight, I realize I did work with them a bit. I volunteered a lot with a group called L’Arche, which was a community mainly for Down syndrome kids.
And I was a really poor in college, so I volunteered on the ski mountain to do with a program called “Ski for All.” So I taught kids with special needs skiing, in part because it was fun and I like special needs kids, and in part because I got a free ski pass. It’s true. But I’d forgotten about it since.
From there I went on to do the save the world stuff, Bank, Peace Corps, whatever. But then having a special needs kid was…I think most parents just don’t see it coming even when it’s happening.
David Hirsch: Yeah. Well, thanks for sharing. I’m going to put the decision to do the “Ski for All” special needs ski program, and the decision, “Well, hey, I get a free ski pass, and I got these other responsibilities that go along with that,” as making the right decision maybe for the wrong reason. I have a laundry list of things in my life—I don’t know if you do as well—that I can look back and say I made the right decision, but it certainly wasn’t for the reason that I was thinking about it at the time.
Mike Graglia: Maybe it was 50-50.
David Hirsch: Okay, well, thanks for sharing. So what is Tony’s diagnosis, and how did that diagnosis come about?
Mike Graglia: So his primary diagnosis now is SynGap 1, but there were a lot of diagnoses on the way. So Tony was initially diagnosed with global delays. He was a bit slow and he was missing milestones, zero to two. Right around three, he started having seizures and got an epilepsy diagnosis. Somewhere along the line, he got a hypotonia diagnosis, which means his muscle tone is low. That’s different than not having strength. It’s not being able to hold your musculature.
So we were at global delays, epilepsy, hypotonia, before we got a genetic diagnosis. But because of that epilepsy diagnosis, we began a series of testing. So some people might be familiar with Fragile X, which is that our kids tend to present like Fragile X kids, so you have to do chromosomal array. But that won’t catch a genetic mutation.
And then we went on to genetic testing. Tony has a certain kind of genetic defect, which requires even more testing. So we went from standard epilepsy genetic testing, to RNA sequencing, which only scientists will really follow. But once we got a confirmation from the RNA testing, we found out that Tony had a pathogenic mutation in his SynGap gene, which means that he has this disease SynGap 1, which the SynGap Research Fund is dedicated to developing therapies for.
But it’s a journey. Getting these diagnoses is not standard medicine. It’s not like a covid test, red line, blue line, whatever. It requires really advanced testing, a lot of sophisticated clinicians to opine, and we were relatively lucky and fast in getting Tony’s diagnosis at the age of four.
David Hirsch: Well, thanks for sharing. So if I can paraphrase what you’ve said, it presented itself with global delays and epilepsy to start with, and had you not pursued the genetic testing, or if it wasn’t available, like roll the clock back a decade or so, you might not know any more than that. You know, you got global delays, epilepsy, some hypotonia or whatever it might be. And how long has this type of testing been available?
Mike Graglia: Not long. I mean, it’s less a case of how long has it been available than how long has it been accessible. So the testing that Tony got three years ago probably cost the insurance company about a thousand bucks. The testing ten years earlier would’ve been a research project that would’ve been at least $10,000.
And you know, I should know this, but the human genome was only fully documented when? So there’s the testing process of extracting your DNA and sequencing it. And then there’s also, what are you looking for? So with Tony what the testing was: take saliva, look at his DNA, and look at known genes that cause epilepsy, and see if there’s a defect on any of them.
The SynGap gene itself was only identified in 2009 in patients. Well, the gene itself in 1998, but in patients, the first human patient, this gene that we identified in 1998, 11 years ago, actually causes disease when it’s mutated 2009. Now let’s go find more patients. That’s an academic research exercise.
And then you start having testing companies like Invitae, GeneDx, Ambry, who know about this gene and start looking for it. So that’s a long way of saying I don’t think you would have this on commercially available tests until less than a decade ago.
David Hirsch: Gotcha. So I’m thinking now on still a personal level, what were some of the fears that you and Ashley had as young parents with a child with that diagnosis, going back a few years now?
Mike Graglia: That’s such a loaded question. I think in the first couple years when Tony was slow, Ashley was quick to see it. Ashley’s the mom. The mom is closer to the child, nursing, everything. And she said, “Something’s wrong. We need to get him help.” And the idea is, “Okay, we’ll get him a lot of therapies and interventions and he’ll be okay.”
But once we saw epilepsy, we said, “Oh, no, he’s sick,” not understanding that epilepsy in a child of that age really can be a signal of much worse things to come. And I think Ashley sort of intuitively knew, “This is adding up to bad.” And I was like, “Well, some kids outgrow epilepsy. It might not be that bad.”
And you could say I was being optimistic, but it was probably denial. I think men are better at denial. I’m either going to power through it, or it’s not true. And certainly true for me. I don’t want to project on all of my gender. But it was definitely clear that Ashley was concerned and was looking for answers well before I was.
And I think Ashley was worried before I was, and then once we got the diagnosis, it was, “Oh no. This this is genetic. This is in every cell of his body. His future is not what we thought. There will be no Montessori preschools. There will be no going to our alma maters for college. There will be no summer camps away there. There will be no going anywhere, actually. He’s going to live in our house or in a home.”
Like just the layers of, “Oh my gosh,” just keep crashing over you. And so I think the fears were, “Oh, he’s going to need a lot of support,” to, “Oh, he’s got an incurable disease.” And then the fear spill over to the sibling. You know, when we were diagnosed with Tony, John was in utero, and, “What does this mean for his sibling? Was his sibling going to have to take care of him?” And I don’t know if we were actually thinking about that then—we might not have been that forward thinking—but in the moment it was, “What’s going to become of his life, and what can we do about it?”
And the answer to what’s going to become of his life is: it’s not a story really anyone would wish on their children. It’s a lot of medication, a lot of homes, a lot of services, a lot of sadness. And then, what’s going to happen to him? Well, right now there’s no good answer, but science is at a state where maybe that can change, and how can we speed that up? How can we make sure nobody misses SynGap 1? And that was the genesis of the SynGap Research Fund.
David Hirsch: Got it. So was there any meaningful advice you got, once the diagnosis was made, that helped you and Ashley put your situation in perspective or gave you some clarity about what needed to be done?
Mike Graglia: I mean, honestly, that time was a blur. I’ve heard that some people who are now friends and other leaders in the rare disease community remember when I called them and recount to me the story. But I don’t actually remember those conversations, because I had no idea what was going on.
But my version of this story is we were diagnosed, and immediately….I got the call on a Friday. Ashley was working all weekend on some deal, and she was just in the office. It was one of those weekends where she’s like, “I will see you on Saturday night.” And so it was just me and Google—and it was disastrous, right? Because this is three years ago. So the things you’re finding on Google are five years old. There aren’t that many patients, so the early ones are generally even more severe.
But we jumped right in. There was a rare disease day that following week. And I remember going to an event in San Francisco and meeting Nicole Boice, who is an incredible ally of rare disease and created an organization called Global Genes. But I met Nicole, and I met other people there. And that whipped us up. And then we activated our personal and our professional networks.
And we started saying, “Okay, who can we talk to about this?” And we got very lucky with who we were connected with. Very quickly we’re on the phone with Dan Lowenstein, who is just an amazing man. Dan is the Vice Chancellor of UCSF. He’s a child neurologist. He’s just remarkable. And he gave us some great advice. He said, “You should talk to these people.” We talked to a few other clinicians, and then it really got clear fast. Then there’s another gentleman, another dad, you should probably find a Matt Wilsey, who created an entire foundation for his daughter called the Grace Science Foundation.
So we talked to everyone from Matt to Dan to these other academics, and it became clear that what you do, if you can, is you set up a foundation, and you advocate for your kids. And even if you don’t think the amount of money you can marshal is going to change an entire disease, if you’re smart about it, you can accelerate research in certain labs and you can highlight it.
So we needed to create a lab, and we were fortunate that this gene is known, and science is at a place where it’s not crazy to think that in Tony’s life and the life of all the hundreds of other kids with this disease, we can help them. And you just do it.
I’ll never forget sitting in a room and hearing Matt Wilsey be like, “You know, when my kid was diagnosed, we just decided to fund some postdocs. So we just wrote our Christmas card list and we funded some…..” I’m sitting there like, “You just do that? You just write…what is…how does that even work?
But luckily, in Peace Corps I had set up a small foundation for girls education, which was just me writing letters and funding my students, and at the Gates Foundation, and at Emerson Collective, I worked with a lot of different non-profit structures. So even though the idea of calling random scientists up and saying, “I want you to hire a postdoc to work on this gene,” was foreign to me, the mechanics of doing so were very familiar.
And so I said, “Okay, let’s do it. No one else is doing it for SynGap 1. No one else is driving the science. This has to happen. My son is sick.” That was crystal clear, right, that this has to happen. “Let’s do it.” And so we did.
David Hirsch: Yeah. Well, this might be a good way to segue into SynGap 1 and the SynGap Research Fund. The motto, if I can call it that, is, “Collaboration, transparency and urgency.”
And one of the things that struck me about that, and reviewing your website, is that I believe you have one of the most transparent organizations and websites I’ve ever visited. “We’re opening up the kimono, here’s our documents, here’s our minutes from our board meetings.” I mean, it couldn’t be any more open right?
And I think what that said to me, the message that I got—and no doubt the message that a lot of other people get, Mike—is, “You can trust us. This is who we are. This is what you’re going to get. If what we’re doing resonates with you, please come aboard. If not, that’s okay.” So how was it that you came to that decision to focus on collaboration, transparency and urgency?
Mike Graglia: I think you just answered that, which is, we are dealing with families who are in very trying circumstances. And we are going to families who are already raising a sick child, paying the bills, dealing with insurance, paying for therapies, and we’re saying we need to raise money. Bad news. You know, your kid has a rare disease no one’s heard of. If we don’t do something, no one will. And that’s a hard ask.
And the least you owe people who you’re asking to roll up their sleeves and do some work is some transparency. And I alluded before to my time at Gates and other philanthropic places. I have strong feelings about how foundations should be run. I think transparency is critical. I mean, one of the things I love about the Gates Foundation, as opposed to other places, is every grant they’ve ever given is right there. They make an effort to communicate aggressively what they’re doing.
And I think we owe it to the community. Like there are some—I don’t want to focus on negative examples—but I think it is essential that you be very transparent with what you’re doing. And I also think it’s essential to be very transparent with what’s overhead and what’s not. And that was one of the commitments we made.
So I’m the managing director. I work for free. I’m sitting in my home. This is the office. There’s no rent charge to the organization. But every organization has some fees they can’t avoid. You need accountants, you need lawyers, you need websites, you need stuff. And so we just said, “That number should be as low as possible, because when people write checks, they want as much money as possible to go to the work and not the overhead.”
And by the way, conversations about what’s an appropriate level of overhead are always frustrating. You never have that meeting and everyone comes away happy. So I said, “Let’s just do this. Our family will just pay for every single penny that’s overhead. So if you or anyone gives, gives a dollar to SRF, I guarantee you that dollar’s going to go right through our bank account to a grantee and we will cover all overhead.”
So at the end of the day, as the managing director, I’m deciding what we spend money on, and at the end of the day, it’s coming out of my pocket. So I’m accountable to myself on that one. But SRF is a public charity for the community, where the community knows that they can raise money and direct it to things that really matter. And I think, you know, if some family comes along with millions of dollars and wants to fund their own work, God bless ’em, go for it. Let’s just coordinate.
But most of us can’t just write multimillion dollar checks to a university. So really what we need to do is collaborate and coordinate. And there’s work there, right? There’s negotiating the grant agreement, there’s administering the grant agreement. There’s getting reports. There’s making sure the money is used well. There’s ensuring collaboration between our partners, and that’s real work.
And that’s what I do. That’s what SRF ensures. So SRF is not a private foundation for one family. We could have gone down that route, but that would’ve been stupid and ineffective. SRF is a public charity that we’ve built for this community to allow it to combine resources and attack problems, so as to accelerate the development of drugs for our kids. That’s what I do all day, every day.
David Hirsch: Yeah. Well, thank you for the backstory. One of the things that I picked up in either conversation, or maybe it was the due diligence that I did in preparation for our interview, was that SynGap 1 is radically underdiagnosed. And what do you mean by that?
Mike Graglia: There’s only 883 kids—I count every quarter—883 kids in the world with this disease, and 250 of them are in the US. But we know from cohort studies where they walk into rooms and test everybody who has intellectual disability, we know from genetic studies that have predicted the incidents, that there should be tens of thousands of patients.
And we also know from lived experience, right? As we count, we go along, we find a patient…this just happened in Poland. You talk to that one patient in Poland, and then they go to their neurologist. And they say, “No, I’ve got ten other SynGaps.”
Because when people get diagnosed with this disease, they’re told silly things like, “No one else has this. This is rarer than rare.” And the parents are overwhelmed and depressed, and they go home and they cry. It’s a small act of hope to type your gene into Google and see if there’s anyone else out there. And some people don’t have that. And so we saw this in Poland, we’ve seen this in China, we’ve seen this in Russia. As soon as we find a patient in, pick a country, and we pull on that thread, we find more patients.
And in the US what we’re finding is…this just happened last week. We had a young girl who was seen by a great medical center in Atlanta, who was sent off to one of the biggest genetic testing companies. Three times in her life that genetic testing company ran her DNA. Three times in her life it came back negative.
And then a few months ago, for whatever reason, I don’t even understand why this happened, they went to a different genetic testing company, who came back and was like, “You have SynGap 1. Here’s the mutation.” And the mom rightly said, “I don’t understand. I don’t understand how this institution and this testing company missed this. Maybe you’re wrong.”
I talked to her, and I said, “Look, the odds of them making up a mutation on your daughter’s DNA is pretty slim. The odds of this other company missing it, no matter how big and important they are, is not zero. Because this stuff’s really complicated, and depending on which data set you’re referencing and which artifacts, there are a lot of ways….as I’ve gotten to know 250 families in the US, there are a lot of ways this can go badly and take time. So in the case of that one little girl, she’s 11, she’s been getting genetic testing since she was three, and she just got diagnosed.
So it’s systemic failures. It’s outdated technologies, and that’s in the people who get the testing. There’s a lot of people who do not get access to this testing. Some clinician has to have the bandwidth and the training to say, “This could be epilepsy, or this could be genetic.” Then they have to have the knowledge to say, “Okay, we got to get this approved by insurance.” Then they have to know that when insurance says no, because they will normally say no, that there are services you can go to get free testing
And then, to double click even more, you know there’s horrible other genetic epilepsies. Dravet comes to mind, and probably SPC-1, 2, I think. But some of these diseases present with seizures very early. Like there is a six month old having a lot of seizures in bed. You take that child to the ER, the doctor should know it’s genetic, and the doctor should do tests.
Our kids, it creeps up. They’re a little slow, zero to two, and right around three, they start having staring spells. And then at some point, maybe when they’re three, maybe when they’re four, maybe when they’re 10, maybe when they’re 20, they start having drop seizures, harder to miss.
But when they’re just having absence seizures, you can imagine a lot of parents, and I’ve even heard doctors be like, “Oh, it’s just a thing. They’ll outgrow it. It’s a tick.” But it’s not, and it’s an absence seizure. And even though the body is not convulsing, the brain is seizing. And so for all these reasons—failures of the system, insurance shortfalls, the specific kind of seizures our kids present with—it’s way too easy to miss our kids.
And so we know we’re radically underdiagnosed. There are a lot of these topics of conversation within our community about endless issues. Nobody disagrees. There’s a lot more SynGapians out there than we have found.
David Hirsch: Well, thanks for explaining. It seems a little more clear now. And what’s the age range of people that have been diagnosed with SynGap 1?
Mike Graglia: Primarily single digits. So if I hear about a two-year-old that’s been diagnosed, I know that child has serious seizures. I know there’s something’s up with that kid. Generally, our kids get diagnosed around three or four. And then, as I mentioned, this 11 year old girl had been tested for years, but just got diagnosed. So really it’s pediatricians and child neurologists who are aware of how fast things are changing.
Very rarely do we see adults diagnosed, but it happens. I have a 20 year old, I have a 30 year old, I have a 40 year old, and I have a 65 year old who was diagnosed by accident. She was in a group home. Her father has passed, unfortunately, and she had some symptoms. They were like, “Maybe you got this from your dad. Let’s just do testing.” And they were like, “Well, you don’t have what I thought you had, but you have SynGap 1.” And that was an amazing story.
But to my point, there are studies that say if you walk into a group home and you test 200 people with epilepsy, somewhere between one and 10 of those people will have SynGap 1. I can back that up with various cohort studies. So they’re out there, but people are not doing genetic testing on adults right now. They’re doing it with kids, because child neurologists understand how fast things are changing. People taking care of adults, that’s not in their head space.
Now it’s going to change, because as we develop therapies for these genes, and suddenly there’s a “So what?” People say, “Why would I do this? Why would I test this person? What are we going to find, some trivia about their brain? We know they’re slow, we know they have epilepsy. What is this going to change?” That was a valid argument.
David Hirsch: What’s the difference? “But therapies are going to be no different,” right?
Mike Graglia: Yeah. But now there therapies, it’s going to change. We’re going to know. Yeah, we can put something in now. Then the next question is, “Does it help adults, or does it just help kids?” We don’t know. But people mainly do this testing to kids. So, our diagnosed population is mainly pediatric.
David Hirsch: Got it. Thank you. So was the 65 year old that you were referencing Karen?
Mike Graglia: Yeah.
David Hirsch: Okay. What’s the backstory? Because there’s a really compelling movie that was done entitled “Karen.”
Mike Graglia: Yeah. She was in a home, she was diagnosed. Her sister is a wonderful woman named Nancy, and Nancy’s on our board now. And Nancy came to the community, and just lovely kind woman. She just got on the Facebook group and was like, “My sister was just diagnosed and she’s 65.” And it was a dog pile, because all these parents of eight-year-olds, seven-year-olds, five-year-olds were like, “Wait, 65? We want to know her life story. What’s going to happen?”
One of our volunteers in the New York area, God bless her, pulled Nancy out of the dog pile and said, “Let’s talk.” And then she called me up and she said, “This is an amazing story, and I want you to meet Nancy. Nancy wants to tell her story.” And I was like, “Wow. Would you be willing to make a short movie about Karen’s life?” And she said, “Yes.”
And I have the great privilege through my rare disease work of knowing Daniel DeFabio, who I think you’ve interviewed, who lost his son to Menkes disease, and his son had just passed. And I knew Dan makes rare disease movies. So I said, “Dan.” I shouldn’t call him that. Call him Daniel. He hates it when I call him Dan. I said, “Daniel, would you be interested in making a movie about this incredible story?” And he said, “Yeah.”
So Daniel and Nancy worked away, and SRF underwrote that. Luckily Illumina came along and got so excited about it, they supported it as well. But now the movie’s available. It’s on our website, syngapresearchfund.org/karen.
And it’s an important story for so many reasons. I think one of the reasons is a story of hope. It underscores for people that our kids are going to live for a long time. Also has some implications for family planning…and not family planning in terms of…. It’s a de novo disease. I should mention that this is not an inherited disease. But you’ve got to think about and plan for who’s going to take care of your kids and arrange your affairs accordingly.
David Hirsch: You’re talking about estate planning?
Mike Graglia: I hate to say estate planning because it sounds like a rich person problem. But the truth is, if you have any amount of money, you need to organize it appropriately so as not to compromise your special needs loved one’s benefits from the government. But you’re right, the term is estate planning.
So, you know, these kids are going to live a long time. They’re going to probably outlive the parents, and you need to make sure that your affairs are in order. And that’s not a message of the film, but it’s something I like to get people thinking about. But I think the message of the film is this incredible story of Karen, and how joyful she is still at 65, despite having this terrible disease.
And it’s the incredible story of Nancy, who’s been her sibling and her caregiver for her whole life. I mean, Nancy has a master’s in special ed. And now she’s on our board and is doing great work. And it’s just a really good story and a way to help people realize that this wave of genetic diagnoses and disease is coming. It’s not just a home full of people who are disabled. It’s a home full of people with undiagnosed genetic diseases. And when you think about it like that, there’s a lot of implications.
David Hirsch: Yeah. Well thanks for sharing. We’ll be sure to include that in the show notes so it’ll be as easy as possible for our listeners to find that. And I know that you have a registry, which you talked about, with more than 900 diagnoses worldwide. And you do research. You fund research grants and round tables.
And I think one of the things I remember reading was that you came to the conclusion in a relatively short period of time that smaller grants to more scientists is better. And I’m wondering how did you come to that realization?
Mike Graglia: I think this funding is inherently catalytic. So we’re not going to underwrite the creation of an entire program on SynGap 1. That would be tens of millions of dollars. But the idea behind a postdoc, and this is where Matt Wilsey was so on, is you put $65,000 into a lab for a year and somebody gets to be in that lab. You’re not paying for the senior scientist who mentors them. You’re not paying for the supplies, for their rent, for whatever. You’re just paying for their time.
And you’re not only getting all the resources that they touch and activate around them, but you’re also investing in somebody who’s at a postdoc, which is a pivotal point in their career, right? They’ve finished their doctorate, they’re doing some research. One day they’re going to have their own labs. And if you can build some expertise and some fascination around SynGap 1, that’s going to last for a long time.
So my strong preference is just to fund postdocs all day long on topics that matter, right? So I’m not going to just fund anyone who wants to scratch an intellectual itch around SynGap 1. But one of the things that we are thinking about right now is biomarkers, right? SynGap 1 is only expressed in the brain.
So if we put a therapy into a patient and we think it’s working, that’s not enough for the FDA. We have to be able to show that it’s working, and you can’t biopsy the brain. You can, but it’s not good to do to living things. So we need to find something that we can measure in blood or urine or spit that says, “Wow, the level of SynGap in this human body has gone up yesterday.”
And so that’s something that right now I’m working with a couple of researchers on, and looking for grants. So we just try to use as small as amount of money possible, because we’re raising this money from families, to achieve things that make sense. And the biomarker is an example of de-risking clinical trials, right?
There’s a handful of companies out there that I know about, hopefully more that I don’t know about ,working on SynGap 1. I don’t really care which one of those companies develops a therapy. I just know that when they do, we’ve done all we can to make the last couple miles of that journey as easy as possible.
David Hirsch: I love it. It’s a great strategy. Thank you for sharing. So you have a blog, you do webinars, you have a podcast of your own. And there was some place I picked up, I don’t know where it was, that you said if you could only read one book, you would give a money back guarantee on the book. Markings by Dag Hammarskjold. What is that book about, and why are you so confident about it?
Mike Graglia: God, I love that book. I was at Gonzaga, and I was in a comparative religion class. And there was a Dag quote in there. I’m dyslexic. I can’t spell anything with three letters or more, and that’s why I’m math major. And there’s this Dag Hammar….letters. That was his name. It was Dag Hammar…letters. I was like, whatever. It’s a big name. But it was a really cool quote. I’m pretty sure I remember it. It was like, “God does not die on the day we cease to believe in a personal deity. But we die on the day when our lives cease to be illuminated by a radiance, the source of which is renewed daily.” So directionally correct.
And I read that quote, and I was like, “That’s really good.” And then, this is pre-Amazon. I walk into a bookstore and just sitting on the top shelf, there’s white cover, red letters, white cover, black letters, “Markings,” red letters, Dag Hammarskjold. I picked up this book and I just couldn’t put it down.
And this guy has two Nobel prizes, one for peace, one for literature, and he is the second Secretary General of the UN. He was shot down. Amazing story. I’ve read multiple bios of his. And it’s just this book of these musings of a man who was doing incredible work. And he didn’t have time to say, you know, “Today I negotiated peace in the Congo again.”
But he did have time to just make these little reflections, which in and of themselves are amazing. And when you read his bio and you contextualize all those reflections, they get more amazing. But it’s just…I don’t know. It’s one of those books where, being dyslexic, I read really slowly. So that book, with his short musings, I can pick up little pieces as I go. And it’s all just genius, and the level of self-reflection and thoughtfulness in that book was just incredible.
And he was also a very mission driven man, which has always resonated with me. I went from the Jesuit school to the Peace Corps, World Bank, and these are “save the world” type things. I joke that I spent a decade of my life trying to save the world, and now I only care about 250 kids in the US. But God’s got a funny sense of humor.
David Hirsch: Yeah. Well, thanks for sharing. I’ll be sure to include that in the show notes as well, Markings, by Dag Hammarskjold.
Mike Graglia: Hammar…letters. Yeah. Money back guarantee. Love that book.
David Hirsch: Okay, so I’m thinking about advice now, and I’m wondering if there are any important takeaways that come to mind that you can share with a dad or couple raising a child, not just with SynGap 1, but just a dad who’s slugging it out out there with a recent diagnosis. Or they’ve had a diagnosis for years and years, or maybe there’s no diagnosis, because not all kids are diagnosed. They just know that there’s some challenges. What advice would you offer, Mike?
Mike Graglia: I would say this if I wasn’t talking to you. But since I’m on this podcast, the listener probably already gets it. But you got to go connect with other dads. I mean, I mentioned Daniel before, and Bo Bigelow was another one who I have a lot of time for.
You’ve just got to realize that when your child has a rare disease or has special needs, your world just got much smaller, and a lot of your existing friends, and family, frankly, are going to take longer to get it. And so you’ve got to build a different community of peers for your own mental health and wellbeing.
So every dad with any kind of challenging kid I think needs to connect with other dads and other men. That’s one. Two is, we alluded in the beginning, men have a lot of unspoken assumptions and plans and behaviors. And when you have a special needs kid, all of those get shattered. If your kid can’t throw a ball…if I played catch with my son, it would be child abuse. I’d knock him over, you know?
So all of these things just go away, and you’ve got to reimagine your life. And that’s a lot of work. So I would say, go get a therapist. I’ve got one. There’s no way you can process everything you’ve lost. Tony’s seven and a half—that’s seven and a half years of….and now I have another son who’s totally neurotypical. I mean, I kind of want to just slow him down. It’s the opposite problem.
But every time John does some something wonderful, I have this moment of grief where I realize, “Oh, it took Tony six years to do that. And John is three.” So you’re perpetually grieving. It’s almost like an open wound, and you have to tend to it. You have to recognize that you’ve got this source of sadness in your life. It’s a wonderful thing. Love my son. And it’s heartbreaking that he’s the way he is.
So, you know, find other rare dads, and tend to your feelings, which men generally we’re not great at. And we got to get better at it, because you’re going to have a lot of feelings around this special needs kid. And, you know, feelings left unaddressed—that doesn’t end well, right? And it takes its toll.
So what’s it going to take its toll on? Is it going to take its toll on your liver, because you’re drinking ’em? Is it going to take its toll on your relationships? Is it going to take your toll on your health? All the above? Like, none of these are good answers.
So find friends, tend to your emotions, and then if you want to get into everything I’ve just said, go find a group and do something. Raising funds and talking to people and working on science is inherently hope inducing. And you can have a long, painful argument around how hopeful should I be, and will this happen in time, and blah, blah, blah. It’s irrelevant, right? You can choose hope or despair, and hope is a better choice.
So channel your energy into doing something productive, but take care of yourself. Because again, these kids last a long time, and the only thing more terrifying than dealing with your special needs 30-year-old is somebody else dealing with your special needs 30-year-old, right? I’ve literally had parents look at me and be like, “I can’t die. I just can’t.”
And I’m like, “I have bad news. None of us are getting out of here alive.” Like, what do you say to that? But literally these are things people think and say. So I don’t know. The advice is just reach out and connect, and don’t minimize this. “Oh, I can handle this. Oh, this is going to….” No, this is big. This is really big. And I think once you acknowledge that it’s big, you can then act accordingly. I don’t know. I think I kinda overdid the advice question.
David Hirsch: Oh, no, no, I got it. If I could paraphrase though, either plug into a group of like-minded dads, or create a group of dads, and then don’t be hesitant to seek advice. Therapy sounds like a weakness, but it’ll help, like you said, put your situation, your expectations in the proper perspective. You know, it is big, right? And it’s not a sprint, it’s a marathon. And you have the extra advantage of marrying an ultra-marathoner. So she’s used to taking on the big and hard things.
So I’m sort of curious to know, why is it you’ve agreed to be a mentor father as part of the Special Fathers Network?
Mike Graglia: Because it’s just paying it forward. I mean, Dan and Bo and Aaron. There’s another dad in our community who I reached out to, and this is another great story. We reached out to him, and he was like, “Just come to San Diego. Just come.” And I was like, “Okay.” I didn’t really understand what the game was, but I was like, “All right, I’ll go to San Diego.”
And it was great. Aaron Harding is a retired military officer, a dad in our community, one of the older parents, such a wise guy. And he’s like, “Just come.” And we came down with our little…at the time, Tony was four, and his son Jackson was 16. But looking at Jackson was kind of like the Karen movie, right? It’s like, “Oh wow, these kids get bigger.” And then sitting and sharing space and sharing a meal with Aaron and his family was so helpful in so many ways.
I talk to newly diagnosed families almost every week now, and it’s one of the first things I tell them. I say, “Find the family that’s nearest you. We will find them for you. Go meet them.” There’s so much that is transmitted and learned just from that connection.
For me, it’s all the people I’m rattling off, Bo, Daniel, Aaron Harding, Matt Wilsey, all these people who’ve bothered to make time. And to be clear, none of them have time. We all have too much work to do, But they make time, because it’s the only way. There’s no book for this stuff.
David Hirsch: Yeah. Well, thanks for sharing. More importantly, thanks for being part of the Network. And to your point about not having any time, we all make time for things that are a priority in our lives, and you’ve just emphasized the importance of that. Is there anything else you’d like to say before we wrap up?
Mike Graglia: I don’t think so. I think it was pretty thorough. Thank you. I think the only thing I want to say is I really appreciate you taking the time to do this and to highlight all the different dads for this. I mean, just getting ready for this, I listened to a few interviews and they’re amazing. It’s a really valuable resource that people can access on the go. I think these podcasts are such a gift.
David Hirsch: Well, thank you. So let’s give a special shout out to Daniel DeFabio, co-founder of Disorder, the Rare Disease Film Festival and the Disorder Channel, as well as Effie Parks, host of the “Once Upon a Gene” podcast, for connecting us. If somebody wants to learn more about the SynGap Research Fund or to contact you, what’s the best way to do that?
Mike Graglia: Syngapresearchfund.org is our website, and there’s a way to contact us on there. I also do a podcast, SynGAP 10, every week. And wherever you listen to podcasts, you can message me there too. But you know, firstname.lastname@example.org, go to our website, or listen to my weekly 10-minute briefing on all we do at SRF. I’m happy to talk to anyone in the SynGap community, in the rare community, anyone I can help. No problem.
David Hirsch: We’ll be sure to include all that in the show notes. That’ll make as easy as possible for somebody to follow up. Mike, thank you for taking the time and many insights. As a reminder, Mike’s just one of the dads who’s part of the Special Fathers Network, a mentoring program for fathers raising a child with special needs. If you’d like to be a mentor father, or are seeking advice from a mentor father with a similar situation to your own, please go to 21stcenturydads.org.
Thank you for listening to the latest episode of the Special Fathers Network Dad to Dad Podcast. I hope you enjoyed the conversation as much as I did. As you probably know, the 21st Century Dads Foundation is a 501(c)3 not-for-profit organization, which means we need your help to keep our content free to all concerned. Would you please consider making a tax deductible contribution? I would really appreciate your support.
Mike, thanks again.
Mike Graglia: Thank you, David.
Tom Couch: And thank you for listening to the Special Fathers Network Dad to Dad Podcast. The Special Fathers Network is a dad to dad mentoring program for fathers raising children with special needs. Through our personalized matching process, new fathers with special needs children match up with mentor fathers in a similar situation. It’s a great way for dads to support other dads. To find out more, go to 21stcenturydads.org.
David Hirsch: And if you’re a dad looking for help, or would like to offer help, we would be honored to have you join our closed Facebook group. Please go to facebook.com/groups and search dad to dad. Lastly, we’re always looking to share interesting stories. If you’d like to share your story, or know of a compelling story, please send an email to email@example.com.
Tom Couch: The Special Fathers Network Dad to Dad Podcast was produced by me, Tom Couch. Thanks again to Horizon Therapeutics, who believe that science and compassion must work together to transform lives. That’s why they work tirelessly to research, develop, and bring forward medicines for people living with rare and rheumatic diseases. Discover more about Horizon Therapeutics at horizontherapeutics.com.