Episode #125: Akiva Zablocki
Please note: This podcast is intended to provide information and education and is not intended to provide you with a diagnosis or treatment advice. You should consult with a licensed or registered healthcare professional about your individual condition and circumstance.
LISTEN HERE: Apple Podcasts / Spotify / Stitcher / Google Play / Overcast
Akiva Zablocki faced a parent’s worst nightmare when his eight month old son Idan was admitted to the ICU with a mysteriously-failing immune system.
Akiva and his wife persisted in advocating for Idan, who was finally diagnosed with Hyper IgM syndrome, an incredibly rare genetic mutation that severely compromises the immune system.
When expensive treatments were denied by their insurance, Akiva’s family didn’t give up. They turned to the public for help raising funds and connecting with doctors and immunologists. After three years of diligent research and advocacy, they were able to obtain a life-saving bone marrow transplant for Idan, thanks to a generous donor who had signed up on a Birthright trip to Israel through Gift of Life.
Through this experience, Akiva connected with other Hyper IgM patients and their families all around the world, as well many doctors and immunologists working to help those patients. This growing community led Akiva to found the Hyper IgM Foundation, a non-profit which seeks to improve the treatment, quality of life, and long term outlook for children and adults with Hyper IgM. The Foundation has become a much-needed way for patients and families to connect and share resources that were previously so difficult to find for such a rare illness.
Idan is one of the lucky ones; in the years since his bone marrow transplant, he’s been able to thrive and enjoy his childhood. Knowing how lucky he is, Akiva continues to work tirelessly to support his fellow Hyper IgM families and help them feel less alone.
“I always saw my job as someone to connect people and empower patients with the best possible tools to make their decisions. That was my goal in life.”
Reasons To Listen:
Learn the necessity of advocating for yourself and your family within a complicated, and at times lonely, healthcare system.
Discover the immense power of finding a community and support for a rare disease.
Hear about the importance of doctors, immunologists and patients working together.
Hear how Akiva balances his commitment to the Hyper IgM Foundation with his own role in his family.
Understand how immunodeficiencies can cause suffering while being invisible (especially during the COVID-19 pandemic)
About Akiva
Akiva has an extensive background in healthcare and nonprofit work. Akiva obtained his Masters in Public Health Policy and Management from Columbia University and is a member of the Board of Directors of the Children’s Brain Tumor Foundation. Akiva has worked as a healthcare consultant for both Mercer and Willis Towers Watson, where his clients included Fortune 500 companies, large hospital systems, pharmaceutical companies, and large manufacturing firms. Akiva founded Health2Social, Inc., and was in the process of developing an initiative devoted to empowering patients to make better healthcare decisions when his son, Idan, was diagnosed with Hyper IgM Syndrome. Akiva’s personal mission to improve healthcare is by no means over, and he continues to pursue initiatives designed at leveraging the information and people network of social media to radically modernize and improve patient choice and our healthcare system at large.
Resources:
The Immune Deficiency Foundation
Gift of Life Marrow Foundation
Akiva’s son Idan meeting his donor at the Gift of Life Gala
-
Harper Spero (00:00):
Please note this podcast is intended to provide information and education and is not intended to provide you with a diagnosis or treatment advice. You should consult with a license or registered healthcare professional about your individual condition and circumstance. Hey guys, welcome to another episode of Made Visible. I'm your host Harper Spiro and I'm so glad you tuned in. Today's guest has dedicated his life to advocacy in the rare disease world. Akiva Zablocki is the founder and president of the Hyper I G M Foundation. Welcome Akiva. We finally made it happen.
Akiva Zablocki (00:34):
Yes, thank you. Thank you so much for having me.
Harper Spero (00:37):
Absolutely. So it's interesting because you were initially introduced to me through your brother Isaac Zablocki who was on episode one 10 and we canceled the recording because of the pandemic. And a few months ago, I'm sitting in acupuncture with my acupuncturist of several years and out of absolute nowhere he said to me, do you know Akiva from New York? And I made this face to him like, what do you mean Akiva from New York? Like there's probably a lot of a kivas in New York <laugh>. And all of a sudden I immediately knew he was talking about you. And it was such a funny moment where I was like, oh wait, yeah, I do know a Kiva from New York. And I pulled out my phone and I showed him our thread of conversation. He said he'd be a great podcast guest. And I said, that's why we were talking. So it just happened to be great timing that he brought you back up. I'm happy to have you here and to talk more about your story, long overdue, tell us who you are, where you're from and what you do.
Akiva Zablocki (01:33):
I said, I'm akiva. I like to be the only akiva and pretend I'm the only akiva in different situations. But that's obviously not always true. I was born in New York but uh, raised and grew up in Israel. So that's where I lived most of my formative years. Then after my military service, I moved back to the States. So I've been in New York since 2001. I currently run the Hyper IgM Foundation, which we'll get into, which is a rare disease patient advocacy organization, which relates to a rare disease that my son was diagnosed with.
Harper Spero (02:04):
How and when was he diagnosed with Hyper IgM?
Akiva Zablocki (02:08):
My son was born in 2012 in July, 2012. Healthy normal birth. Met all his milestones, you know, received vaccinations and did all the pediatrician visits. Really normal, happy kid social. And then at around the seventh to eight month mark, he started to show signs of like a cold virus, I would say. So started to breathe very fast, very rapidly, but still very playful and happy. So we didn't know what to make of it. Uh, he was doing most of his days at my mother-in-law. She was taking care of him and she noticed it. So she said, you know, I think you should take him to the pediatricians. So we're like, oh that, you know, that makes sense. We see her any month, every month at that point anyway. And the pediatrician assumed it was a virus and sent us back home. And then two days later when he didn't get better and he continued to have this really rapid breathing, we would come back again and the pediatrician again would say, no, maybe it's bacterial.
(03:03):
Maybe they did an x-ray. Looked kind of hazy, but really besides the rapid breathing and the oxygen level being a little bit lower, he didn't show any other symptoms. So it was very strange virus. So we kept on basically going home, coming back day or two later and doing that again. And then I went on for around two weeks. In those two weeks his breathing became 70, 80 breaths a minute. And at the last visit I still, we still remember that we were there. His oxygen was down to like the seventies in his pulse ox. And they basically called us an ambulance and and were sending him to the er and we were shocked. It's like we're like, wait, wait, he's a virus. Like why are we gonna the er? And in the er his situation continued to degrade. You know, he needed more and more oxygen like a mask at the beginning.
(03:47):
And then eventually they admitted him to the ICU and then within 24 hours that we were there, he was already intubated and no one knew what was going on with him. No one really understood why, I mean a healthy child is all of a sudden they thought maybe he had a rare lung disease. When they intubated him, they took out some fluid from his lungs to test. So they started like, you know, most hospitals when you're have pneumonia or something, they saw you on a broad spectrum antibiotic. On the third day there the cultures came back and it turned out he had a rare pneumonia called pneumocystic pneumonia or pjp PCPs. There's a couple of names for it. It's an opportunistic infection. So you only get this infection if you're immunecompromised. So the majority of the patients that they see was a pneumonia were AIDS patients back in the nineties.
(04:30):
That's a lot of patients were getting it or if you have a primary immune deficiency, obviously he didn't have, you know, HIV they they had tested you know at birth and so on. So they went through those tests again, they assumed that now he has a immune deficiency. And then when they tested his immunoglobulins, it turns out he had no antibodies at all. So he never made any responses to any of the childhood vaccines he had. And he was basically living on borrowed time up until that eight month mark because he had protection from his mother's maternal blood that was still flowing through his system and that had antibodies in it. But at that point when it starts to wear off, that's when these opportunistic infections come about. So he spent three weeks in the icu, they're at Cornell, two of them he was intubated or maybe even more than two.
(05:12):
And you know, it's a first shock obviously for new parents. And at the time they started they had no idea which, which immune deficiency he had. But they sent that test to all the different hospitals around the country that test specifically for different types of immune deficiencies. They even had transplant doctors come from Sloan while we were at masks in the ICU at a separate room to talk to us about transplant already, even without knowing what immune deficiency he had, he recovered well once they knew what antibiotic to give him for pcp, they released him from the hospital. And a couple weeks later we got a result back that he had a condition code CD 40 ligand deficiency, also known as X-linked Hyper IgM syndrome. And this is a rare one in a million immune deficiency. That's a T-cell deficiency. It's a combined immune deficiency means that his T cells don't communicate well with his B cells and they don't have that protein that helps communicate and allow the B cells to produce antibodies and they don't fight off their own things themselves as well.
(06:09):
So basically they're defective, they don't know their defective and without treatment of IVIG, which is intravenous immunoglobulin therapy, which he was gonna get weekly and without antibiotics, these kids don't do very well. We started researching as much as we could about the rare disease cuz it's one in a million. And we didn't find that many resources out there. There weren't a lot of published papers. The Immune Deficiency Foundation was the first kind of umbrella foundation that we contacted. But they had a one page on their website kind of outdated and they connected us with another family that they knew of. But most of the people we, we didn't think that we would ever meet other people with this disease. And the biggest shock that we had is that the only lifesaving treatment that he has is IVIG or subcutaneous I ig we got denied from from our insurance company as soon as we got outta the hospital.
(06:53):
So they were not gonna pay for it and they were talking about around $12,000 a month. So that was a complete shock. I mean at the time people were starting GoFundMe. So we started a GoFundMe type thing to try to see how we could cover these costs of these $12,000 a month. And we were being told that possibly if we could get a bone marrow transplant, which is the only known cure type thing for this disease, then maybe we could get off the IVIG eventually. But then, so we started raising funds and we got lucky with some connections with press with his story. I think our son Idon, he looked like a really sweet, cute, beautiful baby. The story resonated. So a New York Daily News article that a friend of ours that connected to a journalist knew it exploded. So we were on the local newses and we, people started sharing it everywhere. So we kind of went viral, which helped us with fundraising but also helped us connect with so many hyper GM patients that were just reading about their disease in the newspaper and it's never in the newspaper. So they're reaching out to us and we realize that there's a community there that, that no one knows that should exist cuz it didn't exist really beforehand. So that's how we kind of started building this community for hyper GM patients.
Harper Spero (07:59):
Wow, what a story. I mean you said the words, we were new parents, most people assume those first few months, that first year of a child's life is you just nurturing them and keeping them healthy and making sure everything is good and they're happy and fed and all of that. And here you are in the I C U. What was that experience like for you as a new parent?
Akiva Zablocki (08:22):
Extremely traumatizing obviously cuz you go from having total independence, you know, with your child and just like taking him to the playground and, and and you know, watching him play for hours just play with toys and or sitting down was very bright and you could tell that he's smart and he like sitting and he set up like a five months and just sitting and playing with toys, taking things apart, building them again and then all of a sudden we're in the ICU and they won't allow him to even eat or drink or be on his schedule. It's like the hottest thing with a child in the icu. They don't let you take any food, which they are right in the end. There's always a risk that he will need to be intubated and it's better not to have the full stomach and they were right <laugh>, but it's like so hard.
(09:02):
And also for me personally, and this connects to another story that I, I'm happy to tell it was traumatizing cuz I had spent time and I see myself and I had been through the works with a medical condition of my own. So it was a lot of PTSD coming back and also just knowing that I had the tools to deal with these doctors but I had to make our voice heard. So we were the loud persistent parents in the ICU demanding answers of those first few days. And I, I had been on some me medical blogging and I had, you know, some influence in the medical world in some ways. So I kept them demanding to get answers and they would take us out and have us sit with the head doctor cause they still didn't have any answers for us. But we made a big fuss to try to get that answers. And I think that helped in the end for our son.
Harper Spero (09:45):
So much of this is becoming in this advocate and realizing that if you don't use your voice, you don't make a lot of things happen and you don't get what you need. And unfortunately you had your own experiences to get to that point. But it's so powerful to be able to realize the impact that you can have. And hearing this whole GoFundMe story, I remember it from your brother, I remember like his posts on Facebook years ago and knowing you before I knew you, as you said, there was nothing out there about hyper IgM. There was nothing out there that you could learn more about. And then all of a sudden it gets press and it's like you're being flooded with people. Were they local? Were they around the world? How were they seeing it?
Akiva Zablocki (10:30):
They were everywhere. I have these emails. So they were reaching out to us saying I can't believe there's another patient. We were told that we would never meet or hear of one other patient with hyper GM and now they were connecting with us and they were able to find us. Cause we were, we were at the public face and our son kind of became the public face of the hyper syndrome even before we started the foundation. And they were so thankful to connect and we were so thankful to connect, to hear about their stories both from adult patients and maybe haven't had a transplant. And then from the ones that did have a transplant. And I was always a big believer in learning as much as we can about the disease to be able to be empowered to make the best decision. And I did that with my own disease and I did that for our son as well. Connecting with these patients was really part of that empowerment.
Harper Spero (11:08):
What did lead you to start the foundation and realize you didn't just wanna be a supporter, an advocate for your son and your family, but also for other people?
Akiva Zablocki (11:18):
So when, when we were diagnosed we started out to do a, you know, I would say a global search for the best possible treatments for him. And we know that there could be care with the IVIG and antibiotic prophylaxis, but the median age was still 24 years of age and 80% of our, of these patients weren't living past 30. So we knew that it was a ticking timeline. We needed, we needed to do something but we wanted to make the best decision. So we started reaching out to any immunologist that we could get our hands on. Any connections that we had. We started traveling around to go visit different hospitals around the country, talk to them personally about their transplant and about their immunology team, find out what they're gonna offer and we discover that every single hospital does these bone marrow transplants differently with a different particle.
(12:02):
They don't always talk to each other and everyone thinks that their particle is the best obviously. And we were very fortunate to be told that we do have matches out there. So we did not go through that whole process of looking for a match. There were, they were told that there were 12 matches in the system. That was amazing. We really wanted to find the best care. So along the way we met and learned about a lot of different treatments and doctors out there and that kind of built that first network of all these immunologists and Trent Builder that we eventually then knew. And now, you know, when we were building the foundation, we ended up, after really visiting seven or eight different transplant centers, we ended up choosing a center in Seattle, which had a protocol that none of the other centers had that was based on a European protocol with a chemotherapy that was less toxic for our son.
(12:44):
And their immunology team was amazing. They had been part of the first diagnosis of this gene, so they knew it well and they'd done most of the testing. Our New York doctor had sent the original blood vial from the hospital to Seattle to do that testing. So they, they were the ones that diagnosed it. So the doctors there were just amazing and we decided to do the transplant there. During that time we had created first a support group online randomly a college roommate from the dorms of my brother Isaac had a child with type IgM, which is so rare the fact that that would be a connection when we were diagnosed, my Isaac goes to me, I think I know someone with disease and we're like, no, no, no chance. It's one in a million. And this family in New Jersey turns out they had this as well and they had been through the same things that we had been through.
(13:27):
So we connected with them obviously and they were really helpful with their advice. But they had been part of a small Yahoo group that existed with a mother from Virginia that created this that had it in her family. So they were many cousins in her family and they were around 12 people in that group. So once we connected with them, I was like listen, we need to transfer this to Facebook. I had a lot of experience creating groups and communities. So we started to grow this hyper G community while we were going through that first transplant. And it was during that first transplant, one of the doctors that, one of the oldest immunologists in the country, I would say he was one of people that discovered hyper gm. He said to us, I think you need to start something more than just this group. I mean there's a need out here for a patient advocacy group.
(14:07):
And you know, my wife was a healthcare attorney at the time, I had a master's in public health and had worked in healthcare consulting and had also been on the board of a national foundation for over 10 years. So I had the know-how and we were like, yes, I think you're right, we need to do this. So it was during that first transplant, which you know, we spent months in the hospital, we decided to create this foundation so that we could raise funds, advocate for our patients, eventually also give out research grants and connect our patients to the best possible care.
Harper Spero (14:36):
Wow, that's incredible and fun fact, one of those doctors in Seattle is my main doctor here in Tel Aviv that I always refer to as I couldn't live in this country if it weren't for him. So shout out to Dr. Heinen because really game changer for both of our lives. Right?
Akiva Zablocki (14:53):
Yeah, David is, has been great. He was, I mean when we moved to Seattle the first time he was living on the block that we had rented an apartment. So I got to meet with him and just talk immunology, which I've become like an amateur immunologist. But it was so helpful to have a real MD PhD to like explain things to me that I don't always understand. His explanations helped me simplify it then for everything we've done since then with patients and our website. And so, so he's been amazing. I just saw him two days ago cuz I was out in the clinical Immunology Society's annual meeting and he was there so we got to catch up, which had been a few years since Covid. So, so we hadn't seen each other.
Harper Spero (15:26):
I saw the picture and then he and I were emailing and he was with my doctor from the N nih. It's like, so incestual, this little infectious disease and immunology world.
Akiva Zablocki (15:37):
Yeah, it's a small community and that's what we've discovered along the way that it is a small community. They all kind of know each other and they become a lot more collaborative over the years. So there's a lot more, I mean our patients could use our network to consult with other doctors when they need to and the doctors are happy to consult with these doctors. So it's become a really good tight-knit community.
Harper Spero (15:56):
So when you started that Facebook group and you mentioned that you'd had experience starting communities before, can you speak to what you meant by that?
Akiva Zablocki (16:04):
So hyper jam is, is my second rare disease world. Way beforehand I was active in the brain tumor and oncology world. And that's because as a senior in college I was, I mean I was an older senior cuz I had done the military first, but I was diagnosed at 25 with a brain tumor. And at the time I was being told it was an inoperable brain tumor in my brain stem and there was not much I could do for it. So similar situation where like I'm being told by many doctors that there's not much you could do, there's not much hope. And I set out at that time to find myself a cure. So with my family, we had searched globally for a treatment, even chemotherapy, radiation, uh, and neurosurgery. I was given around two years to live and told the brain tumor was inoperable.
(16:52):
And uh, we were lucky enough, my brother, not Isaac, my oldest brother, uh, found a neurosurgeon out in Arizona that had expertise in cutting the brain stem. And he did it hundreds of times. Something that many doctors in in New York said that was impossible. I, I was told by like head neurosurgeons here in New York that if anybody touches me they would kill me. But being 25 and young and thinking I, you know, I wanna live a long life, I ended up flying out to Arizona, having neurosurgery there. Um, they removed my whole tumor from the brain stem and I, I think I'm going on 17 or 18 years now. I lose count already. But I've been healthy ever since. I mean obviously I have some disabilities, visual, you know, disabilities and other ones, but I'm here on life. And that threw me into getting involved both in healthcare in general.
(17:38):
I changed my career course from finance and I thought I was gonna be like, you know, wall Street type person. And I ended up getting a masters of public health and going into healthcare consulting and it also threw me into the tumor world. I was on the board of the Children's Brain Tumor Foundation, helped create their social communities back in the day and was an outspoken advocate in the world of participatory health and cancer, so on. So I had been creating groups <laugh> since, since the beginning of Facebook I would say. And I always saw my job as like someone to connect people and empower patients with the best possible tools to make their decisions. That was my, my goal in life. Um, and then when my son was diagnosed, I was like, oh, I know how to do this. This is what I've been doing on, on the side, but now I now I'll do it full time.
Harper Spero (18:20):
It's like the world gave you a child who had a rare disease to see like, hey, you have this experience, you know how to deal with this, you know how to deal with challenging situations. Let's see if you can handle this one. And you stepped up to the plate, which clearly you're really good at. And I'm wondering how you find the balance between managing this community and doing this advocacy work professionally, managing your health, managing your son's health, and taking time for yourself. How do you find that balance?
Akiva Zablocki (18:53):
Is there a balance? That's, that's the question. It's obviously harder being in the, in this world because I tend to know every patient individually and I know their stories and I connect with them one-on-one. We've connected with over 300 patients globally with Hyper G and I follow their stories and I talk to their parents. And that means also being there when things don't go well. And that's been hard obviously to deal with that and to kind of compartmentalize to be able to like, you know, when you lose a patient, not to, not to have that throw you off entirely with your goals and when you think should still be driving forward for the foundation. But it obviously that, that part is the hardest part cause we connect on them and then like I ended up talking about it with my wife and, and, and my son here is, and my son is almost 11.
(19:38):
He is part of the best outcome for disease cause he had, I mean he did have two bone marrow transplants before the age four to kind of cure him. And while we don't always talk about a real cure, he's been very healthy since age five. So he is been off medication so he's the best possible outcome. And then I like showcasing him for that best possible outcome, but also so many other patients didn't have that outcome. And that's really hard on us, I would say. And then, I mean obviously hard for the whole community when there's a loss like that. Yeah, I found the balance. I mean, I mean I still, I'm still the primary caretaker for both of my kids while I do the foundation work. And my wife is able to support us because she is, she's a healthcare attorney, so that makes sense. You know, we do what we can, we take the little wins, you know, the little vacations with the family and so on. That's like important.
Harper Spero (20:24):
So you say that he's sort of the poster child for Hyper IgM. What are his symptoms these days and how are they treated
Akiva Zablocki (20:31):
Right now? He's doing great. He's not, I mean we don't worry about him anymore. He's the poster child for a successful transplant, but not all patients can do that. So I, I mean, I would say most of our work is trying to find a better, safer cure for these patients. I don't know what the listeners know about a bone marrow transplant, but it's a very complicated procedure. I, I always say I've had brain surgery and that looks like a minor cold compared to a bone marrow transplant, which usually takes a whole year out of your life. You get harsh chemotherapy, you go through a long recovery process with no immune system and there's a lot of complications that could go along the way. So while my son has been cured, essentially we are looking to make sure that other patients can have a better outcome and with Hyper Gs still unfortunately we see that most patients are not making it far, you know, into their adulthood and we don't entirely have, even with the right treatment, even with being on I V G and Bactrim, we lose a lot of patients along the way and unfortunately we still lose a lot of patients during the transplant process.
(21:32):
So we've been focusing on trying to encourage the research out there. There are researchers working on gene editing and gene therapy for hyper GM and we hope that that would be a better safer cure. But my son is doing great, so I mean he's gonna sleepaway camp this summer with no medications besides his lactose intolerant, which is, you know, manageable obviously for most people. He'll go to a horse camp later this summer, so he's doing great. But most of our patients obviously are having that situation. So I'm dedicated the rest of my time to advocating for these patients.
Harper Spero (22:02):
I'm thrilled to hear that for him and for your family and that you continue to do this work when you bring up bone marrow transplant. It makes me think of a past guest episode 19 with Jan Weiss. Her daughter Lucy had a transplant at the i h several years ago and there was a documentary on the, on her story first in Human that featured my doctor from the N I H Dr. Alexandra Freeman, who's also been on the podcast numerous times and just never personally knowing much about transplants until that show. And wow, again, I I go back to like how as a parent do you deal with that? Because it just was so grueling to watch and see this little girl go through this process Right now you have a great outcome and a great kid who's clearly living a full life For the people who are struggling, what kind of support are you able to provide with your foundation and how is it impacting people's lives?
Akiva Zablocki (22:59):
I mean, having the patient support group has been, I, I hear this all the time from the patients has been an invaluable resource. I mean, years ago they would have no one to talk to with this disease that maybe if they're living in the right place, they could connect with another family through like the Immune Deficiency Foundation. But having this support group that right when they get diagnosed, they could start asking questions and find out about other people's experiences is a, you know, an amazing resource for them. Besides that, we try to connect them with the best care. If they're not in an area or not in the hospital that really understands hyper gm, we try to make sure that they're are connected to the correct doctors to help them make those decisions. Whether it's going through a bone marrow transplant or not going through bone marrow transplant.
(23:37):
And we provide a lot of educational resources both on our website and putting on webinars. And once in a while we'll we'll do a session with Immune Deficiency Foundation, possibly have a bigger conference within their national conference in 2019 we had an full day track just on Hyper IgM where reward in families all over the world and we funded their scholarships to come to the sessions and come to the Immune Deficiency Foundation comence and hear from the best doctors out there. And besides that, we've been giving out, uh, research grants to hopefully advance the science into both understanding Hyper jam but also leading to better long-term outcomes for our patients. We both do our research ourselves with surveys and so on and with uh, some of the physicians, but also funding with grants to physicians working on, uh, cure.
Harper Spero (24:21):
Yeah, you mentioned the Immune Deficiency Foundation, which I'm on the board of and have been involved with for many years and I'm remembering that my first touchpoint was them connecting me with the patient with Hyper IgE, which is what I have. And this patient was the person who started the Facebook group for the community of people with Hyper IgE syndrome. And I remember going in there and all of a sudden for the first time in my life going, oh my God, these people know what these symptoms are like, like I, I, I felt so alone and isolated in these odd symptoms that I was dealing with at that time, mostly skin related. And I'm like, oh my God, there's other people going through this. And there's such impact that that can have just simply from knowing there's other people that get it. There's more, you know, layers to that.
(25:10):
Finding the right doctors, the right treatments, figuring out what's right for you. I've found that I need to create a bit of a boundary from the group because to your point, I'm on the healthier side compared to a lot of people in the group. So it's a little intense to be in there. It's a, it's an amazing resource to have that when I go in there I, I often get what I need out of it. If people are here about the Hyper IgM Foundation for the first time, what do you want them to know about the condition and the foundation and how can they take initiative?
Akiva Zablocki (25:41):
I mean as far as the condition goes, I mean I explained that a little bit before. Our patients have a genetic defect for the most of our patients are the X length kind. So it gets passed along along the X length. Um, once you are a carrier that you'll pass it along a 50% chance that you'll pass along to your children. And these patients have real no real functioning immune system essentially. So they need a lot of supportive care with kind of bandaid, which is, you know, giving them infusions of antibodies and so on. But for example, this Covid pandemic has been very hard on, on our patients. They've already been isolated most of their life in some ways. I mean the ones that aren't having bone marrow transplants might be in school, but they're the kind of kids that that like miss a lot of days in school cuz they have infections and they get sick or they get pulled because you know, the flu is going around and so on.
(26:29):
So covid has been especially hard on our, and it'll continue to be hard because most of the world has moved on from being afraid of covid, but our patients would still be afraid of covid because the vaccines don't work on our patients. So while are hoping that the infusions of antibodies they get have enough antibodies from the vaccinated population at this point, you know, for many years for the first years it wasn't there but now it's probably more there, it's still uh, gonna be scary for them going forward. And I would say that, you know, we are raising funds for research and obviously we, we do several big fundraisers every year. So we're always happy for people to check out our website. One of our biggest fundraisers is coming up soon, which is uh, what we do in honor of our son's transplant anniversary. So we do that every July. This year will be the seventh year and we hope to raise around $30,000 with that fundraiser. So we'll showcase his story, spread the board, both you know, within our website and on, you know, social media so people could follow that.
Harper Spero (27:26):
I love that you do that. I've always celebrated my surgery anniversary this year was my 11th year and I just feel like it's an important milestone to be grateful to be a alive and be surrounded by the people I love and just sort of honor that crazy day. How can you explain the difference between Hyper IgM syndrome and hyper IgE syndrome, which is what I have.
Akiva Zablocki (27:47):
So hyper IgM syndrome for the majority of our patients is a misnomer. It is not the correct name for our disease. When it was discovered, uh, many of our patients hadn't been on the correct treatments which led to the IgM antibody, which is most basic antibody that our B cells create to kind of go out and and be very large cuz it wasn't creating any other of the IgGs IgE IG phase. So our disease really should be called class switch recombination deficiency. Essentially it means that we cannot change the type of antibody that we have between IgM and the, the ones that are specialized like IgG, which was what all we know when when we get vaccines that's what we produce. Hyper IG is also in genetic defect that uh, result in the elevated levels of the IgE antibody and the IgE antibody most of us know about from allergies. Right, because that's the most, uh, that's the common cause of asthma and other things, you know, and allergies. It's all ig. So patients, from what I understand, it's uh, hyper ig. They have a lot of autoimmune issues attacking their lungs, their skin and other areas.
Harper Spero (28:55):
So when your brother Isaac was on the show, he spoke about his experience with dysgraphia and I'm curious how that plays into your life and you managing your own experience with that.
Akiva Zablocki (29:08):
I mean someone needs to research our family I think cuz it's probably on the Y chromosome cause all the men in our family have dyslexia and dysgraphia and so on. I was diagnosed I think before him, even though he had it his whole life, but, but I was diagnosed in 10th grade with, at first with dysgraphia and then eventually with dyslexia as well. And I was actually failing every single subject in 10th grade. They were gonna kick me outta high school. They were like, they call my parents in and they said, you know, he's filled every subject. The social worker here wants to get him tested before we make a decision. And once we got, I got tested, obviously I'd been, I scored very high on most things and then on like spelling, it was like a fourth grader's spelling level and my handwriting was you couldn't read it.
(29:46):
My reading was around a fifth grader being able to sort out words and everyone's like, I mean how has he gone by so long without that. But once I got accommodations I was able to excel and you know, I finished high school, went to the military, went to Columbia University for both an undergraduate and undergraduate degree. So I haven't had let it hold me back as much. But I, I see with my son for example, my son is brilliant, smarter than me, <laugh> by far, but his handwriting <laugh>, it's like reminds me of my, of my handwriting. Luckily he's living in a world where there's way more computer use. He's in fifth grade but they mostly use their Chromebook now. So that really helps. Luckily he does not have the spelling issue I have. So it's really for him only the graph here with the handwriting and the forming of letters and numbers. But he's, you know, he plays scrambles with adults and does really well. So something that for me I can never do.
Harper Spero (30:34):
Wow. And how would you describe how he handles his experience with Hyper IgM? Does he talk about it with friends? Do friends know that he has
Akiva Zablocki (30:44):
It? That is an excellent question cause we're gonna be doing a series soon with Hyper IgM children interviewing Hyper IgM children. So he's gonna be probably one of the first interviewees. Um, and we'll see what he still the remembers of the time and what, how he relates to it now. I think he's gotten used to, in some ways being the poster child because he was on our outta our promotional material for a while. I mean he's a great looking kid so he like, looks like a little model and also he, we've used his story to showcase Hyper G so he's grown up with it I think now in fifth grade he is probably a little bit more private about this. The kids that have been with him since first and second grade, they probably know his story. But the newer kids that have joined since probably don't know anything about it.
(31:26):
And I'm sure he keeps it kind of quiet because it's hard to talk about it when you're 10 or 11 years old. But for years he was uh, you know, he's on news, he gets interviewed, there's an article coming out soon, I think it's gonna be in the Jerusalem post in Israel cause his donor came through birthright and, and we've been connected with the Gift of Life Foundation for many years because of that. And they're reaching their like a milestone of like, I don't know if it's the hundred thousand donor or some, some huge number. So they're shorting his story again with his donor story and we gotta meet his donor on stage in front of 500 people at a Gift of Life gala. Like i, I could share that with you too. You could put it in the, in the links. Talk about an emotional experience.
(32:03):
We always wanted to meet the person that's saved their son's life. When we reached out to the register they're like, oh you know what, you'd be perfect for this meeting that we do once a year at a gala in front of 500 people. And so my son was I think in second grade or first grade, second grade, you know, we were up on a stage. They show Chris our story and then we got to meet Alex um, his daughter in front of, I mean it was amazing. We've gotten in touch with him. He's a great guy but I think my son has gotten used to it. I do need to be more careful now. I think he's asking me not not to post a picture of him on social media without his permission, which I get now. So I have to run him by him, just make sure he looks good enough and he's OK with what I write.
Harper Spero (32:37):
Wow, what an incredible, for those who are not familiar with Gift of Life and did not go on birthright like I did, which is what brought me to Israel initially. Can you explain what it is? So,
Akiva Zablocki (32:47):
Gift of Life registry has been since the eighties I believe swabbing people for matching for bone marrow transplants. The majority of the patients obviously that do bone marrow transplants are with leukemia and things that like our blood uh, cancers. But also all the immune deficient patients that need bone marrow transplants go through registries. Like if the life actually is one of these registries that started off because at the time the founder, uh, who was Ashkenazi Jewish did not have a match in any of the other registries that already existed and there weren't a lot of Ashkenazi Jews in the registry and he set out to change that and he did a, you know, drive for himself. But eventually it became this organization and now if you're an Ashkenazi Jew, there's an 85% chance that you'll find a match cause of this registry. And the last 15 or 20 years they've been also swabbing almost everyone that goes on a birthright trip, which is exactly the target audience to be a a bone marrow donor cuz it's the right age.
(33:39):
It's like in their, you know, 18 to twenties, which is the perfect time to donate. And you get swabbed and you're in the registry and you might never be called or you'll get the call like Alex got, he was finishing up college and you got a call that there's a four year old that that he could save his life. And he's like, sure I'll do it. He didn't even remember registering on birthright. Cause birthright is a blur for many people. <laugh> um, that trip to Israel takes Jewish 18 to 27 year olds for their first time in Israel, which is an amazing experience. Um, and I actually had staff those trips like four or five times during college. I was very familiar. So it was another kind of like serendipity to have the donor swab on birth of right and then, you know, be a perfect match and and be able to save our son.
Harper Spero (34:16):
Wow, that's so cool. And I appreciate you acknowledging that birthrights a blur because Yes it is. And <laugh> trying to figure out if I was swabbed, I'm like digging so deep to go did I get swabbed? Because I think I did. But it's such an interesting concept of how that's incorporated into birthright and a lot of the incredible healthcare that is coming out of Israel. I mean vaccines starting here for Covid and just living here and being exposed to all that's being developed here is really incredible.
Akiva Zablocki (34:51):
Yeah, definitely.
Harper Spero (34:52):
I appreciate you chatting with me today. I wanna end on a final question, which is what do you want people to know about invisible illness?
Akiva Zablocki (35:02):
I would say with Hyper G patients, for example, it's all internal. Their disability is in their gene. There's an error in their gene and their immune system doesn't function, but to the outside world, they, they walk around in the street, the kids look so normal. I mean, with our son, it took us so long to even convince some of our closest friends and family that he was really sick cuz he doesn't look sick. And when we would going in an elevator and try to avoid a person coughing and we would be like, OHS, don't get close to our son, he's very sick and they would say, well he doesn't look sick, he looks great. And he did, he looked great. He, when he went into bone marrow transplant, he looked like a healthy toddler then eventually a healthy, you know, four year old. He did not ever see until the bone marrow transplant made him sick because of the chemotherapy.
(35:43):
So our patients walk around in the world and no one knows that they're sick unless they decide to, you know, tell them and, and they might disappear to get their infusions once a week or events every three weeks, whichever schedule they're on. And they might miss work if they're in their working age and they might miss school and you would wonder, well why is my new employee taking off now a week? So, and, and they might not tell you that either they have this eyebrow jam syndrome and it's all internally. So I think it's important to, when you find out about it, to be aware of the fact that while they look healthy, you know, it's all going on inside and they don't have the defenses that, that they need to protect them the way the rest of us walk around the world kinda being OK with people sneezing next to us. And coughing
Harper Spero (36:23):
Sounds very familiar to my experiences. Where can people find you, connect with you further and learn more about the Hyper IgM Foundation?
Akiva Zablocki (36:32):
So obviously on our website, hyper igm.org and I'm, I'm easy to find akiva hyper igm.org and like I like to pretend I'm the only akiva in the world. So literally facebook.com/akiva, that's me. I was able to get that back when they started those vanity things, facebook.com/akiva. So I'm easy to find, um, and we would love for people to check out our website and check out our Facebook pages.
Harper Spero (36:55):
Thank you so much Akiva.
Akiva Zablocki (36:57):
Thank you.
Harper Spero (37:00):
Thanks for tuning into Made Visible. We hope you learned about something new today. If you enjoy this episode, please take a few minutes to subscribe, rate and review the show on Apple Podcasts. Your support means the world to us. Visit made visible stories.com to check out our writing workshops, corporate offerings, and more information that can help you in navigating life with an invisible illness. Follow made visible stories on Instagram. See you next week.