Mick Unplugged - Chad and Alicia Bohley | Beyond the Diagnosis: A Family's Fight Against MPS 1

Episode Date: July 10, 2024

In this heartfelt episode, Mick Hunt talks with Chad and Alicia about their family's battle with MPS 1 following their son's late diagnosis. They discuss the complexities of the disease, the critical role of early detection, and their dedicated efforts to raise awareness and support other affected families. Their story is not just one of challenges but also immense love, resilience, and hope.Background: Chad and Alicia share their journey dealing with their son’s diagnosis of MPS 1, a rare genetic condition. Discussion Topics:The challenges of recognizing and diagnosing MPS 1 include initial symptoms and the genetic aspects of the disease.The emotional and practical impacts of MPS 1 on their family life, detailing their son's various treatments and their advocacy efforts.The importance of genetic testing and early diagnosis, and the couple's involvement in legislative changes to support this cause.Key Quotes:"No parents should have to wait three years to get this diagnosis.""Every single symptom he has was like checking off a box."Next Steps:Learn More: Dive deeper into MPS 1 and how you can support families and research.Reflect: Consider how you can contribute to advocacy in your community for rare diseases.Engage: Share your thoughts or stories about overcoming health challenges using #MickUnplugged.Connect & Discover:National MPS Society: mpssociety.org>courage>jacob-bohley ★ Support this podcast on Patreon ★ See omnystudio.com/listener for privacy information.

Are you ready to change your habits, sculpt your destiny, and light up your path to greatness? Welcome to the epicenter of transformation. This is Mic Unplugged. We'll help you identify your because, so you can create a routine that's not just productive, but powerful. You'll embrace the art of evolution, adapt strategies to stay ahead of the game, and take a step toward the extraordinary. So let's unleash your potential. Now, here's Mick. Ladies and gentlemen, welcome to a very special episode of Mick Unplugged. For the first time, we're live on location with two friends of mine that are dear to my heart, Chad and Alicia.

Thank you, thank you. You know, on Make Unplugged, we talk about going deeper than your why and being fueled by your because. And today we're going to talk about a very important cause fighting a very dynamic and important disease, MPS1. Chad and Alicia, talk to me about this disease and then let's talk about how you became a fighter for the awareness of this disease. So MPS1 is a genetic disease. It's classified as a lysosomal storage disorder. So in easy-to-understand terms, our son was born with this. He was born missing an enzyme that breaks down cellular waste, so it affects his entire body. The way that we explained it to our 7-year-old daughter at the time was that think of your whole body as a house. Every week, the garbage man comes to pick

up the trash. If he didn't, it would just accumulate throughout your house and you would become essentially a hoarder. That's what's happening in his body. His body is not able to break down cellular waste because he is missing an essential enzyme. So instead of being able to recycle it throughout his body and use it, it's accumulating on his bones, his skin, tissues, his organs, and it's affecting everything. So you said something important. It's a genetic disease. Yes. Meaning both parents are involved. One parent's involved. Talk to us a little bit about the disease and the inheritance of the disease. So in order for this specific type of MPS, there are multiple types, but for MPS1 specifically, both parents are carriers. So we both passed on a genetic mutation to him and we just happened to

hit the genetic lottery and find a match that both carried this. Every person carries about three to six lethal genetic mutations. It's just finding that partner that also carries it and then potentially passes it on. Because we both carry it, there is a 50% chance that we would have a carrier child, which is our daughter, a 25% chance that we would have an affected child, which is our son, and then the 25% chance to have a completely unaffected child and non-carrier child. Wow. I'm assuming your son was born and you didn't know he had MPS1. Right. Walk me through what led you to say, hey, something's not right. Maybe we need to have testing. And then the moment that you find out what this disease

actually is. So we had noticed, you know, some motor skill delays, definitely a speech delay. Behind developmentally. Just developmentally just developmentally all around global developmental delay obviously we had our daughter first which was crazy so we had our daughter first so there was things that kind of jumped out to us that that she had done earlier that he had not done he was sick all of the time like constant ear infections sinus infections we were at the pediatrician's office every week getting antibiotics. And they were just like, you know, sometimes kids have weaker immune systems. Like he had his first surgery when he was four weeks old. He had a double hernia repair and inguinal hernia repair. And they said, you know, that's normal specifically in children, sometimes in

boys. So everything that we had pointed out to them was explained somehow. And then like the development side, they said, oh, he's a boy. He's a boy. He's a second child. You baby him. Like they take longer to develop. So it's not that they pushed everything off. They just, they kind of had an answer for everything. Like, hey, he's a boy. He's this, this is that. And it wasn't until around the age of two that, you know, we went to the pediatrician and they said, okay, he is developmentally delayed. His speech is delayed. The shape and size of his head, like has anyone ever said anything to you about his head? It's big. So they sent us to Duke to see neurosurgery in July of 2019. And they took an x-ray. They said, nope, he just has a big head. Like my brother had a big head. So we thought, okay, well, genetically,

like that runs in our family. It wasn't like he was born with a super small head and it got really big over time. Like it has always been big. He was nine pounds, eight ounces, which in hindsight is also related, but it wasn't until February of 2020 that we brought him to Wake County public schools to be evaluated for special education pre-K. And we had already at that point had a genetics appointment scheduled. We had scheduled that back in November of 2019 after his doctor was like, you know, he's sick all the time. We have this lingering concern of his head. You know, they said it was fine, but just things are not right. Maybe he has some sort of processing disorder. We think that it would benefit you to find out before he goes into kindergarten if there is something with his learning that would benefit you to find out before he goes into kindergarten if there

is something with his learning that would benefit you to know. So we had scheduled an appointment with UNC Genetics back in November of 2019. They could not get us in until May of 2020, but the doctor assured me we do not think it's anything that needs to be rushed. We don't think it's anything like super scary and important. We just think it would benefit you to know before he goes into the school system. Okay. I brought him to the evaluation and it was pretty hectic yeah to the evaluation with wake county public schools i almost canceled that appointment because i am very much a control freak i want to be the one to take him to appointments right he took him they called me there were seven i mean occupational therapy physical therapy speech therapy i mean you named

the therapist they were in the room just watching which is standard for a special education okay okay but someone first time going into that it's as a dad like she's very well like she's the type that she looks up like everything about it and then i'm the type that i just walk in i had seven people just like holy cow just we're here to watch your kid and i was like okay a little intimidating it was it really really was and then i don't want to say i don't know how it went and they called her so they so they knew that we had a genetics appointment schedule like they knew his medical history they knew all of that five months in advance so he showed up to that evaluation one of the therapists called me a few days later and was like, hey, we know you have genetics scheduled for May of 2020, currently February of 2020. We think you need to move this appointment to as soon as possible. And I'm at work in a position in a full time position that I just started with my job, recently promoted, sitting in my office, about to go meet clients for a walkthrough of their venue. And I'm like, okay, like, what did you see in the two hours you spent with him that his pediatrician has not seen in the hundred appointments we've been to in the last two years and they didn't really want to tell me because they're not physicians I mean I can respect that

they didn't want to tell me but it's something that they had to report and then they pushed everything up so some so some of the things that they had said were you know we noticed that his fingers are curled we noticed that he has an abnormal head size and shape. Limited mobility. Yeah. Limited range of motion. He has coarse facial features. And I'm like, okay, well, when I get on Google and I Google genetic testing in toddlers, it's giving me a hundred different things.

Like I don't have time to sit and Google all of these things. If you're telling me that it's like urgent i need to know what you think you saw and they thought that they saw hunter syndrome which is mps2 and that only affects boys they said something in the hunter syndrome or the hurler syndrome family and i'm like okay i've literally never heard of any of those things so i got on webmd i got on google and did exactly what they told me i shouldn't. And I'm like checking off every single one of these characteristics, every single one of these symptoms he has. It was like spot on. It was starting to make sense.

Oh man, it was like. Noisy breathing, abnormal head shape, constant sickness, umbilical hernia, inguinal hernia, large birth rate. Everything was, the boxes were just checking after one another. And I'm like, okay. And then I read life expectancy 10 years one another and i'm like okay and then i read life expectancy 10 years and i'm like okay well he's three he's gonna be three at this point and i'm like okay well like what the heck what am i supposed to do now so i called unc genetics i'm like listen my appointment's in may i can't wait till then i've already been on google i've

already diagnosed my kid like i went on google images and typed in Hunter syndrome and my kid looks like all these other kids. Like clearly, like I've already diagnosed him in my head. Like they all look, they almost, some of them look like brothers and sisters. He looks like he could be related to all of these children. And you know, like I said, my brother had a large head, but he'd never really looked like Chad. He never really looked like me, you know, now it makes sense why. So they were great. UNC genetics was great. They asked me some followup questions like, well, you know, now it makes sense why. So they were great. UNC genetics was great. They asked me

some follow up questions like, well, you know, tell me his symptoms. Tell me what stood out to you on WebMD. Like what characteristics does he have? And they got us in as soon as possible to at least do the diagnostic testing for it. The doctor was out of the country, but they said, if you can come, we can do the blood sample and the urine sample, which is what they need in order to diagnose. And as soon as we arrived, the genetic counselor was like, do you can come, we can do the blood sample and the urine sample, which is what they need in order to diagnose. And as soon as we arrived, the genetic counselor was like, do you mind if I take a picture of him and send it to the doctor? And as soon as she said that, I knew that she knew that he had it. So we had followed through with the testing.

We had an appointment on February 25th. I'll never forget that date because that's the date that he met with the doctor. And they had confirmation, at least from the urine test, that showed showed that he had elevated gags which is that waste that he can't break down right so they could tell us right off the bat he definitely has mps we don't know which type yeah there's one through seven so they were like he's in that family once we get the blood test back it'll confirm but they looked in his eyes he has corneal clouding which is a symptom of mps1 specifically so the doctor was like i would be willing to bet that it was MPS1. So of course I come in with my notebook full of questions like, okay, like what is next? Like what do we do from here? Because typically children are

diagnosed within the first two years of life. If their state tests for it through newborn screening, they're diagnosed at birth, which North Carolina did not test at the time. They actually did a screening pilot that ended a week and a half before his birthday. So had he been born a week and a half earlier, we would have known at birth, he would have been able to be treated by three months old and newborn screening saves lives.

Like there's no cure for this disease, but earlier detection leads to earlier treatments, which leads to better outcomes because now he has three years of irreversible damage that we can't undo because it took so long to get a diagnosis. That is why we are such advocates of this. We've seen that what we've both been through the last four years of our lives. No parents should get this diagnosis, but no parents should have to wait three years to get this diagnosis. Correct.

I was just going to say, Chad, I want to come to you for a second. Being a father of a son, it hits differently. It's funny you say that. Right. It hits differently. So that moment for you, and I promise I'm not trying to stir emotions, but I'm kind of emotional hearing this, thinking about it from both of your perspectives. What was that moment like that the diagnosis is confirmed and then all the millions of information that's out there that you can read, right? There there's a ton of what if scenarios for the past couple of weeks, you know, I've been familiarizing myself with MPS1 just because of our relationship, right? Like what was that moment

like for you? So it's funny, you think like the dad in it is always like the tough one that got to get it done. We're going to get through this polar opposite, like polar opposite. Like I was the grieving one. And maybe I don't want to say if it was my daughter it'd be different probably still be the same but it's like what was going through my head was like that's your son that's the person that's going to carry on your family name right i grieved like hard like real hard and she went right to the grindstone was like all right we're going to do this this is what we're going to do like i need to learn as much as i can i need to educate myself yeah yeah and it turned hard at that moment because i was grieving and she wasn't i wouldn't say i wasn't no you were but i had to compartmentalize because i

wouldn't allow myself to get to that point because i knew like i just viewed his life it's like an hourglass at this point like we've wasted three years now like it's like you know before christ after death like i look at pictures i'm like before diagnosis this point like we've wasted three years now like it's like you know before christ after death like i look at pictures i'm like before diagnosis after diagnosis like we didn't know then but it's something he was born with like he had it then and we didn't know like we were treating ear infections when we should have been treating a terminal illness but then it's like yeah i just i went into grieving it just it took a while for me to really just soak it in and realize like holy cow like i went through the why us like why is it us this is you know why my son why this kid yeah you know he's such a good kid like why you know the wise i

went through just an emotional roller coaster of wives and then i had her like i kept asking these wise and you know there were answers to them but it's like i like almost couldn't accept it right like i couldn't accept the fact that i had to wake up with this kid every day and know that that may be the last time i made it for my boy like for the very it probably took me a good two years i mean a good year or two both two years of the longest so like really probably over the last 12 to 14 months is the time frame that i really like i don't say anything but accept it like accept our path accept what we have to do in our lives to really get where we need to go yeah but also the support for our daughter because

like we can't forget her and this whole fact like you know she needed us she needed dad to be supportive and sometimes i wasn't very supportive enough and it's not, I was just feeling my own emotions. So I didn't really know how to channel my emotions through trying to explain it positively to, uh, well at that point, eight, nine year old, I didn't know how to explain it. And then, you know, sometimes like dad's hide there. Like, I can't tell you the number of times I freaking cried on my way to work i grabbed my car and just freaking pulled it together it's like all right because

i was still working like she immediately at that point well he was diagnosed march 2020 so like a week later all changing of life happened and then not just of that life in the world was changing but our own inner worlds were changing he could not come to doctor's appointments with me yeah like like when we had one parent we signed consent forms for transplant like he couldn't be there he had to sign and be on a facetime video so it's almost like yeah i was grieving but i almost couldn't accept it because i couldn't be there so i almost like i felt like if i was there more i probably would have been able to establish like a feeling better than, but I could, I missed out on all of that. She was the one that had to go. Cause I get it. Like she's the mama bear. Yeah. Like I get it. So it was like, we made that decision, but it really took

me a long time to really establish a feeling of acceptiveness and how I really should feel and attack what we have going with us. Yeah, that's amazing. So mama bear, all the information that's out there, you're seeing 10 years life expectancy, but then you got to go through the treatments and diagnosis, right? Walk me through that. And then ultimately the decisions that you made with Jacob. So, you know, when we were seen at UNC, they had told us because of his age, because he was three, and most children are diagnosed either within their first two years of life or through newborn screening, that his brain, for lack of better terms, could be too far gone to go through a bone marrow transplant. Because the two, you know, treatment options for this are either

weekly infusions of a man-made version of the enzyme that he would need once a week for the rest of his life, or a bone marrow transplant. And the main difference between the two is that the infusion that he would get does not cross the blood-brain barrier. So eventually his brain would degrade over time. And obviously we want to protect his brain. So we did seek a second opinion through Duke for a bone marrow transplant. And once we went through all of the pre-transplant testing, which, you know, looked at every part of his body, you know, his, his heart, his lungs, his brain, all of that, they eventually said, you know, he's delayed, but he's not any more delayed than the average three-year-old. So we decided to move forward with a bone marrow

transplant, which at the time, you know, they tested our daughter to see if she would be a potential bone marrow match. But we found out in that process that she is also a carrier of this disease. So they would not use her bone marrow, but they ended up finding a match of cord blood, donated umbilical cord blood. Duke has their own cord blood bank. So they ended up finding a match for him through that. So he had eight days of chemo,

they put a central line in his chest, which is how he would get all of his medicine, how he would get the transplant. And everyone hears transplant and thinks it's like this big climactic experience or procedure. And it's really just like a blood transfusion. They delivered these magic cells that were donated stem cells from an umbilical cord blood he had like i said eight days of chemo to hollow out his bone marrow get rid of all of his cells and then they infused these stem cells into him which we were in the hospital for 68 days but it took him 18 days for his body to what they call in graft which is take over the donor cells and the way that that's different from the other treatment option is this will cross the blood brain barrier. So he's making enough of the enzyme now from the donated cells

that it will protect his brain. And it's not a cure for the disease because he still had three years of irreversible damage, but it will slow down the progression of his disease. And are you seeing that? Yeah. I mean, we didn't think he'd ever be potty trained. He's potty trained now. We didn't know if he would ever be able to like read. Just started writing. Yeah. He just started writing. He just started reading. It's not at the rate of the other kindergartners that he's around, but it's happening. And we didn't know if that would ever even happen for him. So, you know, those are like the small victories that we celebrate. Like to somebody else, he wrote his name. Like, yeah, I'm sure it's exciting,

but like he wrote his name. We didn't know. We didn't know if he'd ever used the toilet. Like that is huge. And that is because of the transplant, I believe. And I mean, one thing that I know for a fact, the transplant helped with is pre-transplant testing. He had a sedated hearing test, which showed that he had a moderate to severe hearing loss in both ears, requiring hearing aids. We got him hearing aids post-transplant. His follow-up shows he has normal hearing in both ears. They said,

get rid of the hearing aids. Yeah. So he does not currently wear hearing aids. And I believe that that's a God thing, but I also believe that, you know, science and, and now that he's making this enzyme.

Research matters. No, that makes my heart smile. Little, and now that he's making this enzyme research matters. No, that makes my heart swell. Little guy is going to be something special. He already is. He's going to go. And like I said, like I say all the time, because I've had people say like,

you know, what if this doesn't help him? Like what if a cure is not found in his lifetime? What if you're putting in all of his advocacy and it's not going to help him? They might not help him, but he's a part of it. His purpose. He still has purpose. His life still means something, even if it's helping the future help him. It might not help him, but he's a part of it. His purpose. He still has a purpose.

His life still means something, even if it's helping the future babies. That's awesome. Let's talk about Jacob now. So what's that journey been like for the last four years? So since transplant, he had some complications during transplant, but he did great with it, all things considered. We overcame all of those. He has had multiple surgeries since then

he's had bilateral carpal tunnel repair he's had decompression infusion of his cervical spine he's had bilateral hip reconstruction and plates put in his knees he's continuously followed or after for like what six months six eight months we were doing like home infusion he had a g-tube in his belly at the same time so he had literally two things that are hoarded in his body for six eight months post transplant but he is the happiest like he is inspiring he takes everything with stride and that's why it's so important for us because it's all relative right when your kid gets stripped if that's the biggest thing happening in your life like that's gonna feel terrible to you how like your kid is sick you want to do everything you can to make them better and before all of this our issues were so small right whereas now we've had to like

shift and think like how lucky we are correct because i personally know other families who went through transplant with us that didn't bring their kids home. And we were told that risk at the beginning. They're like, listen, this is a risk, but it's a risk we took to not even be able to save his life. It's like relative to people in life. Like it's not like sitting at a poker table or anything in life, like anyone watching and take a relative risk of what you think you took in life and then put it in our shoes and bring it in your children's life. That's not downplaying other people's problems. No. Bring it relative to the decisions that we all make in lives. It was probably ultimately one of the hardest decisions we ever had to make in life. Yeah. And so you talked about essentially saying your outlook on life

is drastically different now yes moments matter i'm not saying moments never matter right but the appreciation for minutes of the day have to be different for you now right talk to me a little bit about just your outlook on life and how that's changed so i definitely am a silver lining type of person i've had to retrain my brain to think that way. I'm a very momental person. If I don't, I am very high anxiety. I carry a lot of stress and a lot of anxiety. People tell us all the time, you're so strong. I'm not strong because I want to be strong.

I wish I didn't have to be strong all of the time, but I don't have another choice. If you have a child and you were in my shoes, you would be doing the exact same thing. I'm not special. We are not any different than anybody else. We were dealt a not great hand, but we have to be able to take that and turn it into something positive. And like I said, we've advocated, I've met virtually because everything is virtual now, but with North Carolina legislators and, you know, we've gotten newborn screening passed for the state of North Carolina. As of February of last year,

any baby born in the state of North Carolina is tested for MPS one at birth. That's freaking awesome. Yeah. Yeah. So, I mean, that was not solely because of me, you know, the MPS society exists and they're out of Durham. Oddly enough, they happen to be super close to home for us. So very involved with them and all of the work and research and everything that they do but now piggybacking on what you said before about the grieving dad there was a turning point for me like where she's very stressful high anxiety she gets through she was tough at the beginning

it's like almost shifted like I'm the more momental person I'm like she is there and we have so much fun but I'm like I'm now kind of like I'm not gonna miss out on things like I'm the more momental person. I'm like, she is there and we have so much fun, but I'm like, I'm now kind of like, I'm not going to miss out on things. Like I'm in the restaurant world. That's obviously how I'm at, you know? And there was actually even sacrifices that I made during his diagnosis. And while they were in the hospital, like I missed out on fundraisers and things. And it was sad, but it was the sacrifice that we had to make to get where we needed to go i mean

right now obviously we're doing this podcast in the middle of my restaurant's dining room and it's awesome we're blessed to feel like we're here right now but there was definitely a turning point for me mindset wise where i just like clipped had to prioritize the time that we do have with yeah i mean i can probably think about it was like the very end of 2022 so you're talking almost two years like i don't know what it was there was just a moment in my head that just i flipped the switch flipped it right but i also have brought that to like my work life just my personal life like i tell people this and people that know me and work for me and everyone knows me like i always say jacob's diagnosis has been a Chico delight for me because it really taught me how to just be in the moment. We all have accolades we want to chase. We all have goals and dreams. And I did

like we all do. Everyone had every single thing that they wanted to reach for something. And you know, you want to reach those stars. And I kind of had to like set that aside. And just the momental feelings that people have in life, goals and jobs and careers and sports, like for me, that was all I had. And now I kind of like reshifted my mindset. I've told people I don't care what it is like. I'm not going to miss out on a moment with my kids anymore. Like it doesn't mean sports or a job or anything. Nothing will come in between having that momental moment because as she has

reiterated many times, that moment may never happen again. I tell people like the best thing that I do every day is I wake up in the morning. We hear this kid going, dada, mama, get me out of my room. And going back to like the perspective shift, he has some behavioral issues and he has like some things. What I wanted to say was like the best thing every day is I start our day by being able to hug this kid because, and I actually wake up every morning just knowing that's what

I want because nothing else matters. Right. My restaurant, my job, sports that I play. I'm big into golf. Like nothing matters besides getting that hug from both of our kids, obviously. But the one, you know, Jacob, especially, because that's what we're talking about. But and then it actually like carries to the rest of my day. Nothing else can matter. Somebody can give me the worst news ever. And I literally look at them and I go, it's OK.

Right. Because let me help you through that, because we have been through that raw emotion of people telling us like it's okay. Right. Because let me help you through that because we have been through that raw emotion of people telling us like, it's okay. I feel like we have like a gift to give to people. They can look at us and I will find the positivity in anything now just because of what we went through in life so far. No, I love that. And then you were talking about the behavioral issues, right?

I was just going to say like a shift in perspective, like some of the things that take place aren't pleasant all of the time. And we still have to be able to discipline just like we discipline our daughter. Like it's very different. But at the same time, it's like, oh, that really bothered me. But at the same time, there are parents wishing that their kids would stand on the table and dump Cheerios out and they're not awarded. They don't have that.

So it's we have to be able to make that shift. And this diagnosis is definitely going to make our daughter a more compassionate, inclusive adult because she's exposed to so much more, which has its positives and its negatives. I mean, not that she's had to grow up quicker, but she's seen and heard a lot of traumatic and real life things. And we don't keep that from her. Like nobody knows how long anybody has. And it's not something we think about on the daily basis right but it's

always there i mean something we think about like we take into consideration when we're making decisions and things like that but we also have a really great community like within the mps community like i'm connected with a bunch of other moms we vacation together we are each other's support system because nobody just every year there's a conference every year. Nobody really knows what it's like unless you're in it. So let's talk about some of the advocacy for MPS1. And you said, Chad, there's seven. So not just MPS1, but MPS1 through seven, I'm assuming? There's multiple types and ML, which falls under. It's the National MPS Society, but they support and advocate for all types of MPS and ML, which MPS stands for mucopolysaccharidosis, which is just a really long scientific name.

And then ML is mucolipidosis. And I can't say either of those two. So I'm going to say MPS. As I told them in the beginning, I said, I told them the acronym and I said, my wife can perfectly explain the full name every single time. There we go. So how can people join and fight the cause? Because number one, I need to commend you for fighting.

Even though you say it wasn't you, they got North Carolina legislature to approve it. But someone had to start. Someone had to be the carrier of the voice. And I will say that you were that megaphone. So number one, kudos to you for that. But what are things that people can be doing to help support this? Because just like a lot of other diseases where there's researching, that all takes money. That all takes awareness. What can join Be The Match as a bone marrow donor because somebody out there, or if you're pregnant or you know somebody who's pregnant, you can donate your umbilical cord blood because that's just going to be used as medical waste. And because some selfless mother out there decided to donate her child's umbilical cord, our child gets a second chance at life, which literally costs you no money. You can sign up, like I said, Be The Match to be on the bone

marrow registry. The chances that you'll ever be called to be a donor is very, very slim, but you could, and you could change somebody's life. You can donate to either the National MPS Society or the Kennedy Ladd Foundation. Those are both two nonprofit organizations that fund research. You can follow us on Facebook. Yeah, it's Jacob's Journey with MPS One. We do multiple fundraisers. It's more posting updates on how he's doing and then glimpse into our life and the things that he goes through on a daily basis.

But you put a lot of fundraisers together. We do multiple fundraisers a year, whether it's a t-shirt drive or we just did one for a custom pair of shoes. Parks are customs, by the way. There you go. But really, just raising awareness to us is so important. Like this opportunity for us to reach however many more people that we wouldn't

have heard of before, because even the awareness portion of it, whether it reaches a high school student who knows they want to go into science and research, but they don't know what they want to do. Maybe this is a possibility. This is an outlet for them. Maybe somebody is going to see this podcast who has a child with all of these symptoms that Jacobacob had and they don't know it like i personally know people who have been diagnosed because somebody approached them in a mall and said your child looks like somebody that i know who has this disease like that literally changed she's called me multiple times the whole course of their life like yeah and you know just look at the significance too like we're sitting here with on mixed podcast and this gentleman just happened to walk into my restaurant one night and

to eat dinner and we just got to conversating about life and he had a podcast and i brought up to you and i was like let's do it you know i mean i just feel like all walks of life we all take it for granted all the time well and like you said going back to like research like ultimately funding is what's holding our child back from having a future. This is considered an orphan disease. Pharmaceutical companies aren't researching treatments for diseases that aren't going to make them money because this does not apply to the masses.

There are not thousands and thousands and millions of people who have this, so they're not going to make money off of this, which as disgusting and sad as that is, that's the truth. We have to walk it. So we have to be the advocates. We have to be the people to raise the money, to fund the research too, because it affects us. And we didn't for the first three years of his life.

We didn't know. We were just normal people who had normal kids and lived a normal life. And one day that all changed for us. And that could happen to anybody. It totally can. And for anyone that's listening or that's watching this is why donation matters and this is why simple things like donating and both right yeah all this matters because without this the life expectancy is 10 years old that's outdated information it is longer than that and that's the that's with no medical

treatment but that's what i'm saying right and that's the scary thing when you get on like that information stops your heart like that's like how many saying. Right. And that's the scary thing. When you get on, like that information stops your heart. Like that's like. How many families out there in the world get diagnosed with this, that can't go through medical treatment and they just literally have to watch their kids just wash away. And that's what I mean. So we all have kids, have nieces, have nephews, have cousins, whatever it is. Life is so precious. And if there's anything that you can do,

please do it because all of this matters. The most precious thing that we have is life. And the second most precious thing that we have is time. Donating for research and for funding can allow both of those things to happen. And so from my heart to both of yours, number one, I appreciate you taking the time to be here. But if there's anything that you want the listeners or viewers to end with, if there's one last message that you want them to have, what would that be? Hug your kids. Every moment with them is precious, whether they have any diagnosis and, you know, teach your kids about inclusion, teach them to not stare, to ask, to say hi, to, you know, to engage with engage with other kids you know that's my biggest fear because he is going to continue to be different like this is a degenerative and progressive

disease and i just want him to be happy there you go like happiness is what matters i mean i'll piggyback on that i mean yeah hug your loved ones your kids like those moments just that may not ever be there so not everybody has the means to donate. And I totally understand that. And even those who have supported us and donated like donor burnout is real. Like we are constantly asking for people to donate and a share of this podcast, a share of a Facebook post. Like I said, we had never heard of this. Just talking about it.

That's helping us. That's helping future families. That's helping future babies. All of that matters. And it doesn't need to be this million dollar donation. Yeah. But if 2 million people all gave a dollar, what does that do? And that's what I want people to understand. And in the links in the description, you're going to see a lot of ways that you can donate. Just choose something, I promise. And it doesn't matter if it's a dollar. It doesn't matter if it's five. Something goes a long way. And so for me,

that's my one ask, is that everyone donate in your own way something goes a long way. And so for me, that's my one ask is that everyone donate in your own way, in your special way, because there are a lot of Jacobs and there are a lot of mothers and fathers of Jacobs that truly would appreciate it. Do you agree? 100%. For all the listeners and viewers, remember, your because is your superpower. Thanks for listening to Mick Unplugged. We hope this episode helps you take the next step toward the extraordinary and launches a revolution in your life.

Don't forget to rate and review the podcast and be sure to check us out on YouTube at Mick Unplugged. Remember, stay empowered, stay inspired, and stay unplugged.