ONCE UPON A GENE - Episode 134 - The Critical Role of Newborn Screening - Rare Mom Alison Breitbarth and Infantile Pompe Disease
Alison Breitbarth's son was the first baby in the state of Indiana to be screened for Pompe Disease and receive a positive result. She joins me to talk about the importance of newborn screening.
EPISODE HIGHLIGHTS
Where does your diagnosis journey begin?
Ten days after my son Grant was born, I received a call about results from his newborn screening that indicated he was flagged for Pompe Disease and they were doing further testing. We met with the genetic counselor and learned Grant had the infantile onset form of Pompe Disease, which is the most severe form. Because he was diagnosed through newborn screening, he was able to receive his first infusion at three weeks old and never had a symptom of the disease before treatment. Today, he's doing really well.
What is the current treatment for Pompe Disease?
An infusion takes about 5 hours and Grant receives them once a week. He will receive his 55th infusion this week and will have them for the rest of his life, or until another treatment becomes available.
What questions do you get from your older son and how do you address them?
We've always been honest with Connor, but not gone into much detail. He knows Grant needs medicine every week to keep him healthy. He hasn't asked a lot of questions, but he's starting to understand that everyone has different needs. For example, we've talked about how Connor has Hemophilia, so we have compared how he bruises easily and Grant doesn't.
What is it like integrating with the Pompe Disease community with a child who was diagnosed through newborn screening with immediate treatment options?
There are other kids who were diagnosed through newborn screening, but had symptoms right away. The Pompe Disease community is amazing and I've connected with amazing parents who have given me the hope I've needed in the past year.
What are your plans for advocacy?
We're in the beginning stages of starting a foundation to raise awareness, help with fundraising efforts for Pompe research, and help families who need assistance getting to see a specialist. International Pompe Day is April 15th and we hope to share more by then.
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Full Transcript
Effie Parks: [00:00:00] I'm Effie parks. Welcome to once upon a gene, a podcast, this is a place I created for us to connect and share the stories of our notes. So typical lives raising kids who are born with rare genetic syndromes and other types of disabilities can feel pretty isolating. What I know for sure is that when we can hear the triumphs and challenges from others who get it, we can find a lot more laughter a lot more hope.
Lot less alone. I believe there are some magical healing powers that can happen for all of us through sharing our stories and I'll take all the help I can get
Alison Breitbarth: once upon a gene is proud to be part of bloodstream media. Living in a family affected by rare and chronic illness can be isolating. And sometimes the best medicine is connecting to the voices of people who share your experience. This is why bloodstream media produces podcasts, blogs, [00:01:00] and other forms of content for patients, families, and clinicians impacted by rare and chronic diseases.
Visit bloodstreammedia.com to learn more.
Effie Parks: Hello there. You've made it welcome to once upon a gene. Thank you so much for hanging out with me for a little bit. If you're listening to this live coming up this weekend tomorrow, May 13th and Saturday, May 14th is the Seattle rare disease fair. This year, the Fair's going to be broken up into sections Friday.
It's going to cover diagnosis, access and treatments. Additionally, this year scientific talks will be on cardiovascular rare diseases. Saturday, the 14th are the summit workshops, which are going to be super cool. And they're going to focus on ways we can share. And turn our stories into meaningful impact and also have workshops on coping and strategies.
I am so excited to be one of your presenters on Saturday at 9:00 AM Pacific on how to find formula and tell your story through podcast. There's also going to be writing about your story, talking [00:02:00] to legislature about your story, all sorts of cool workshops. So please come. It's free. You can register at rare disease.
fair.com. Karoleena summers of born a hero puts this on every year and she just does such a stellar job. So I hope you can come. It's a great rare disease community event with hopes to improve the quality of lives for patients and their families. Today, we're talking again. Newborn screening and the importance of it, man.
Oh man. My guest today, her son was the very first baby in Indiana to be screened for Pompei disease and have a positive result. It's only one of 27 states that screens for Pompei. Can you believe that there's a treatment for it and states get to decide what tests go on the newborn screening panel, which is why it is so important to talk about this and advocate for.
Well, gee many got lucky as lucky as you could get, I suppose, and was born in the right place at the right time. Their life's changed forever. Obviously [00:03:00] like all rare disease families. And he has to go to the hospital once a week to receive this miracle infusion treatment. And he's going to have to do that for the rest of his life, unless maybe something better comes along.
So I can't wait for you to hear our conversation. This mama is so cool. I loved her the moment I met her, and this is a really, really important topic. So I hope you enjoy our conversation, please. Welcome Alison Breitbart. Hi, Alison. Welcome to the show. Hi Effie.
Alison Breitbarth: I'm so excited to be. Oh, my gosh. I'm
Effie Parks: so excited to talk to you too.
You reached out to me a while back and I'm not sure if it was because you had already been listening to the show or if it's because you discovered it through Catherine Alexander's
Alison Breitbarth: story. So I had never heard an episode before, and I'm honestly not sure how I even came across that particular episode, but that's.
One of the very first ones that I listened to. And of course, after I listened to that episode, I was like, well, I have to reach out to [00:04:00] Effie. Um, and I need to reach out to Catherine and it just seemed like so many similarities and hearing a story, not exactly the same as ours, but. But at least spoke to me in a way was just a very cool thing to hear.
And then since then I've enjoyed listening to your podcasts. I
didn't
Effie Parks: pay her to say that she enjoys it. I promise. Yeah. Very cool. Katherine's story was unique in lots of ways. And your. Definitely parallels a lot of, a lot of the things, including timing, actually. So let's kind of dive in. I'd love to know about your family, your boys and your diagnosis journey.
Yes. So we
Alison Breitbarth: have two boys and Connor is four and grant just turned one. I have been really lucky to stay home. With both of my kids. So since Connor was born, I have been home and it's really been a blessing with grant having Pompei and meeting to spend one day a week at the hospital. I'm not really sure [00:05:00] how I would have made that work had I had a job.
Um, I'm sure we would have figured it out, but I'm thankful for that. And so our house is very busy. Our boys are very loud, very active. They love to be outside. They really love swimming. And I think they could spend all day, every day in the water, whether that's the bathtub or the pool Connor, our four year old, absolutely loves all things, kind of construction and digging.
And he's kind of. Has a project of some sort to going. Um, and he definitely always keeps us laughing with things that he's saying. And then grant has a huge personality and is super determined. Um, whether it's climbing the stairs or trying to climb the chair and then get onto the table, he is doing all of the things.
And then he has a big obsession with balls lately. So if he sees one, he's going to say ball and. I'm going to want that in his hand. So they definitely keep us busy and we wouldn't want it really any other way. And [00:06:00] my husband luckily has been home and I feel like we have really been a really good team when it comes to grant and his diagnosis.
And he's kind of the positive one behind it all. And anytime I'm kind of questioning things and feeling down, he's very good about bringing the mood. Back up. So I'm very thankful for him. It
Effie Parks: sounds like an adventure every single day and blessings to you for being surrounded by
Alison Breitbarth: dudes, they definitely keep me going and it's wild.
So,
Effie Parks: so I knew three things about Pompei disease. Before you messaged me one, John Crowley basically saved the world. Yes. You have a newborn screening test available in three there's a treatment.
Alison Breitbarth: Correct. So those are three very important things and good things to
Effie Parks: know about it. What did you know about
Alison Breitbarth: Pompei disease?
I did not even know those three things when we received grants diagnosis. So I had never heard of it [00:07:00]
Effie Parks: and tell everybody what state.
Alison Breitbarth: Um, we are in Indiana. So we live in Indianapolis.
Effie Parks: You're in Indiana. So you went into the hospital to have sweet baby grant and then what happened?
Alison Breitbarth: So it would've been about 10 days after he was born.
I was driving home from picking up my four year old kind of feeling like, you know, oh my gosh, we have two kids. I've got things that are control. And my newborn baby was at home sleeping and I was picking him up and we were driving our short, probably five minutes. Drive home and about halfway home, my phone rang didn't know who it was, but I mean, I frequently answered the phone and don't always know who's calling.
And it was someone calling with newborn screening result. And all she kept telling me is that, you know, he's been flagged for Pompei and it's being sent on for further testing and there's multiple forms of Pompei and that's really all she could tell me and that we were going to have an appointment.
Three days later and he would likely see [00:08:00] cardiology and they would talk to us then. And so I was getting home kind of as quickly as I could to start writing things down. And that was really all she said to me and got off the phone with her and immediately told my husband who was home. And we were. On a Google search, basically, which is you have a kid with a rare disease, the worst place to go, and you basically told me like, I'm going to start reading.
You should probably not. And I knew in that moment like that, it was really bad. Oh, my gosh. I would say those three days where they were very long, we ended up getting an appointment with our pediatrician cause he was due to go back anyway. And our pediatrician didn't know, you know, anything about more than we did that.
You know, he had been flagged for Pompei and we just had to wait and go to our appointments with the hospital on that Thursday. So it was a long wait and. At that time. I did not know all of the things that I [00:09:00] know now, and it definitely would have been good to not Google and to have been told no, that there is a lot that's going to happen and it's going to be okay, but we didn't get that.
Then what do you wish
Effie Parks: was different in the way that. News was delivered to you. I mean, you're driving home, you got to Starbucks, you're going to go snuggle your baby. And you're trying to wait at a red light and someone just calls you, telling you this, like it's the daily news and then you go home and that happens, like, how should that have been different for you and your
Alison Breitbarth: family?
So I'm hoping. A lot of things with newborn screening and, you know, the phone call that we got maybe are working on changing, but I think maybe if it had been delivered by our pediatrician to begin with, and he had been given maybe a little bit of background information, or if they would have kind of connected me with the genetic counselor, which.
I know now is what was supposed to happen, but someone had gone on maternity leave and it just was kind of one of those things where our phone call [00:10:00] was maybe the one that didn't quite get the attention that it needed. So it was not an ideal situation to get that phone call. And I wish we would have been connected with our genetic counselor because I love her.
And I know she would have told me that day, a lot of the things that I needed to hear instead of having three days of just letting your mind go. All kinds of places that luckily I try not to let it go to anymore. Oh
Effie Parks: yeah. That leaves lasting effects though. No matter what really. So once you finally got to get in there after a few days and meet your genetic counselor and learn a little bit more about the type of Pompei that grant has and what you could do about it, what did they say?
Alison Breitbarth: So we went to that appointment and there were a lot of tears and. I mean, I feel like I can remember it like it was yesterday. Um, but they confirmed his diagnosis. When I think in the back of our heads, we were just hoping like, you know, it's a false positive, like we're going to go and they're going to say, look at him.
He's completely fine. You know, but that was not the case. And [00:11:00] then my hope was okay. It is Pompei. Hopefully it's late onset. So Pompei has two forms, infantile onset, which affects you within the first. Several months of life or late onset, which can affect you kind of at any point in your life. And you're more just monitored.
And they said, no, it is infant onset. So it was not only Pompei, but the most severe form of Pompei. So with that news, they also said, He was diagnosed on newborn screening. Like we are so thankful for newborn screening. And at the time, I didn't know what that meant. I didn't realize how important that that was.
And when they said, you know, he is the first one in Indiana, who's been picked up on newborn screening and they, you know, there was just this, they were relieved and they had all of these feelings and I couldn't figure out where that was coming from. I didn't realize that because grant was diagnosed on newborn screening, he is going to do so much better.
Then, if he would have been diagnosed later.
Effie Parks: And is that just because he could receive treatment [00:12:00] and get in the system?
Alison Breitbarth: Yes. So since he was diagnosed on newborn screening, he was able to receive his first infusion, which right now that is the standard of treatment, um, for Pompei, uh, when he was about three and a half weeks old.
So he received the treatment and. He had never had a symptom of the disease when he began treatment. And so since he's been treated weekly since then, um, he is doing really, really well. So it was just so much that I didn't know about newborn screening and a treatable rare disease that I've learned a lot of things in the past year.
Effie Parks: Yeah, Catherine spoke about that also that she was like newborn screening. What opt in what? And I feel like most of us, I mean, you know, we're just happy to have a baby. We're going through the motions. We're decorating our nurseries and we're not really thinking about the newborn screening process whatsoever.
Alison Breitbarth: Right. I had no idea about newborn [00:13:00] screening really, and what it screened for. And I certainly never thought that I would be getting a phone call that something was not okay. On my son's newborn screening
Effie Parks: had grant not have been picked up on newborn screening. What are some of the symptoms that would have started showing up after a couple of.
So
Alison Breitbarth: there would have been failure to thrive. And it's one of those things like rare diseases. It's hard to figure out what's going on and the heart plays a big part in Pompei. So he would have had an enlarged heart and then it's a muscle disease. So you would see, you know, he's not meeting milestones and just not doing those things that you would expect a baby to do, and it could have taken, you know, three months for that to happen.
It could happen in six months. He's fortunate that that didn't happen to him. And we're really lucky that it wasn't our four year old who had Pompei because it was not on newborn screening. Then
Effie Parks: do you know when the newborn screening hit Indiana?
Alison Breitbarth: Yes. So it was added in July of 2020. [00:14:00]
Effie Parks: Okay. And he was born like six months, seven months.
Eight months later? Yes. Oh my gosh.
Alison Breitbarth: Alison. Yeah. So in that very first meeting of his diagnosis, you know, they kept saying like, you know, he's the first one and you know, it was added. And he's the first one that they've seen. Who's been caught before the worst symptoms, because they treat lots of other kids with Pompei, but they look a lot different than grant does.
So tell
Effie Parks: us about the. Treatment that he's on. And the weekly infusions that you all
Alison Breitbarth: have to go through. Yes. So they've definitely changed our life, but we're very thankful for them. So his infusion right now, it takes about five hours start to finish. Um, we typically get to the hospital at eight. I hope that his infusion is going sometime around nine.
But that's not always the case. It kind of depends on when his drug gets there. And he is a busy guy during his infusion. Um, people have asked me, you know, what's it [00:15:00] like for him? Like, is he tired during it? Does he feel okay? And he is his very wild self during his infusion. And I am making sure he's not crawling under chairs or.
Trying to wrap his cord around the crib. He is very, very busy. So keeping him entertained, um, probably is my biggest challenge during his infusion, but it's been a learning process and we've logged a lot, a lot of hours at the hospital and our day used to be a lot longer than it is now. So I'm thankful that it's gotten a little bit shorter, but we have one day, every single week that he and I spend there.
So he will have his 55th infusion. This. I feel
Effie Parks: like you went over that so fast because it's just the, the way that your life is, and it's just what you do. And you've done it 55 times, but I kind of want to slow that down. Absolutely. Every, every Monday you have to start your week by getting up, having the entire [00:16:00] day, perhaps set aside.
What's going on at the appointment and if the drugs they're on time and if everyone is in a good mood and fed and well rested, and there's also worry, there's also a bunch of sadness about it. There's also gratitude. There's a needle. There's a poking. Oh yes. There's you having. Vigilant the entire time and not getting to just sit down while your kid has this appointment.
You can't just like check out and scroll on the internet. You have to completely manage your kid and keep him safe and not let the expensive jug fly out of wherever his poor is. Correct. And then deal with it, pack it up, get home, live normal life and do it again. Seven days.
Alison Breitbarth: Yes. So it's one of those things where our older son now, I feel like he has picked up on like, okay, it's Sunday.
Okay. That [00:17:00] means grant goes to the hospital tomorrow. And so he's had a lot of feelings with it and it's been navigating. Him having those feelings and knowing that like, I still have to get up and I have to leave and I'm not taking him to school that day. So it's been an adjustment, um, for him too. So he didn't just get a sibling, he got a sibling with a lot of needs, so we've navigated that.
And then, um, we recently got to move his infusion a little bit closer to home, which has been nice since we are there on the right. But I feel like every week on that drive, it's kind of a feeling of, I can't believe it's time to do this again. And a feeling of. I am so thankful that he is getting this treatment and that it is working and then hating it for him.
I feel like on the days when it's raining, it's a lot easier to go on the days when it's super nice out. I'm like he's just missing out, you know, on a great day outside. And I hate that. But I mean, it is definitely just become part of our [00:18:00] life. We are getting ready to go on vacation at the end of this week.
And it was a weird trip that fell on a Friday to Friday and we decided, you know, we really wanted to make it work. And so I've had to slowly move his infusion towards the end of the week. So this week he will have an infusion on Thursday. So we can leave on Friday. We'll be gone Friday to Thursday, and then we will have, you will have an infusion on Friday when we get home.
So it's just been a little bit of juggling, but yeah, every week I get there, I hate that he has to have his port access. We've been having some issues with the numbing cream that they use and him having a reaction. And so he used to be kind of a kid of. Don't change my diaper. That's really gonna make me mad access my port.
Sure. No problem. I'll lay here, but in the past few weeks it's become more of a battle and it's taken, you know, several nurses and myself to get his port access, which is it's horrible, but [00:19:00] we've gotten it done. And I'm hopeful that we are going to figure out something better to numb his port before we access it.
There's hope for something different this week. So we will see little buddy. It's hard, it's hard to watch him have to do it every week. It's hard to explain to a four year old what his brother's going through. So it's a lot of things. Yeah.
Effie Parks: It's, it's a lot of things. It's a lot of things. Um, and I think it's important for people to know that, you know, like, especially in like maybe one circle removed from your rare disease community.
How detailed and how much mental and emotional stuff go into that every single week. And also being stuck kind of right. And not being able to travel and just have this medicine and your go bag that you can administer.
Alison Breitbarth: Right. Yes. It's not a quick take this pill and go anywhere that you want. It's a, no, he is tied to the hospital and we need to be there and we need to be there once a [00:20:00] week.
And I can't imagine us not getting him there. Definitely hard, but thankful for the treatment that he is able to receive. Of
Effie Parks: course. Are you able to have child life specialists there to help you during infusions or
Alison Breitbarth: is. We are. Um, so where you are very lucky that we, um, are in a great hospital and it has amazing child life specialists who love grant.
Um, his nurses love him. And so I'm always thankful for that, that we are in such a good place. Um, people have asked, you know, do you think that you will move his infusions to home at some point? And. Right now being as young as he is. I like the separation of hospital and home. And for now for us, the hospital is what works for us.
And you know, if down the road, And he's, you know, an older kid and says, you know, I would rather do this at home and get to be at home. Then we will absolutely [00:21:00] look at going that route. But right now we are happy to drive about 10 minutes and do it all there. And then I kind of get to leave it there when we leave at the end of the day.
But I've said to my husband several times that for some reason, I mean, I mean, I know why, but that day is just so exhausting. I get home from that. I am more tired than when I take them both to the zoo or tackle a whole bunch of things and have them with me that day is it's definitely what takes it out of you?
Effie Parks: Yeah. The day shot. Yes. What do you do for yourself after a day like that?
Alison Breitbarth: Well, it's a, I usually walk in the door and my four year old is home from school. At that point, my husband takes them and picks him up on that day and he is ready then to have my attention. It's kind of walk in the door and, uh, I'm back into mom mode at home.
So it's just an immediate kind of I'm needed then at home. And when I sit down that night, I am ready to just kind of watch a show [00:22:00] and. Do nothing.
Effie Parks: Yeah. You gotta have your Gilmore girls on, on ready?
Alison Breitbarth: Yes, absolutely. So I am glad though, now I do get home usually around 3, 3 30. And when grant first started getting infusions, I frequently was not home until like six o'clock.
So I'm happy to have gotten some hours back in the day and that I get to see Connor, um, after school and spend some time with him because he needs it. My three-year-old daughter
Effie Parks: has recently just started asking me a lot of questions and trying to work her way through her big brother. And I wonder, what is Connor asking and how do you explain it to them?
Alison Breitbarth: So we have been always very honest with him, but I guess vague, um, he knows that grant needs medicine and that he needs it every week and that that's what he needs to help keep him healthy. And that's kind of, as far as we have gone into detail with him and he [00:23:00] hasn't really asked a lot of questions, he has asked, you know, Do other babies get medicine.
And so to explain to him that, no, they don't, but that everyone is different. And so he's starting to understand how, you know, everyone kind of has different things that they need. He actually has hemophilia. And so I've been trying to help him understand the fact that he has hemophilia and that grant has Pompei.
And so Connor bruises very easily. And grant does not answer. He's starting to figure it out, but in his little head, I think it's still just very jumbled up on how all of this works.
Effie Parks: Okay. So you have two kids with a rare disorder. I didn't know. Connor had hemophilia. Connor has
Alison Breitbarth: hemophilia, and it was actually diagnosed after grant had his Pompei diagnosis.
So when grant was diagnosed with Pompei, my husband and I had full carrier screening run, and it came back that I carried hemophilia. Grant was getting ready to have a port placed. And they said, well, [00:24:00] we definitely need to know, like, if grant has hemophilia before we play support, we should go ahead and just test both of your boys.
I said, okay, sounds good. Thinking, how would Connor have hemophilia? He is four. He had already, you know, done the Pompei swab. He carries Pompei, just like my husband and I do, but Connor does not have Pompei, so sure. We'll go ahead and do hemophilia swabs now. So we send those off the genetic counselor calls me and she basically called and said, well, good news grant does not have hemophilia, but Connor does.
And I was, I was shocked. And at times I feel like I haven't given his hemophilia diagnosis. The time that I need to, because it just in terms of hemophilia and Pompei, Pompei seems so much more to me, but yes. So yeah, he has a hemophilia diagnosis that we got basically because of Grant's diagnosis, which for hemophilia, I'm very thankful [00:25:00] to know about it.
And so if something does arise, we are ready for that for him.
Effie Parks: Say,
I guess if you want to be the annoying look on the bright side person, both kids have a disorder that have a treatment.
Alison Breitbarth: Yes. And when we went to Connor's first hemophilia, They were going on and on and on. And they said, and we assure you that, you know, Connor is going to lead a normal life. And I think they were just blown away with how well we were handling all of this news.
And they know now that we have a kiddo with Pompei disease, and I think maybe they see kind of where we were coming from that day. And of course I still follow up on tons of things for Connor, and we're always on the lookout. It just kind of came as a shock, just kind of one more thing that we had to deal with.
Not long after we had grants diagnosis. So.
Effie Parks: Okay. I have a lot of things I want to talk about with Connor and hemophilia. Maybe in another episode, maybe offline [00:26:00] little buddy. Yes.
Alison Breitbarth: I've been bruises all the time, trying to explain to him that he bruises easily and that, you know, he could try to maybe just be a tiny bit more careful.
That would be great. But telling that to a four year old is like telling it to the wall. So.
Effie Parks: Yep. Yes. Oh my gosh. Okay. You got me with a big red firetruck right there. I got to recenter my brain. Okay. I saw it. You knew that I did not possible that you did that. Okay. I want to ask you a question that might have a different.
Answer. Uh, and maybe it doesn't. I want to know what does it feel like to enter the Pompei community with a child who was diagnosed by newborn screening and with a child who was diagnosed at the point where there was a treatment, do you feel like you have a place there? Do you feel accepted? Do you feel, how do you feel?
Alison Breitbarth: I feel like it's a very strange place to be. There are other kids who were. [00:27:00] Diagnosed on newborn screenings that are in other states, but a lot of those kids had symptoms right away. And so even though they were diagnosed on newborn screening, they may have already had a symptom of the disease where grant was diagnosed on newborn screening and.
Did not have a symptom of the disease. We went to his very first echo and met with his cardiologist and afterward he said, you know, his heart looks completely normal. Count that as a win today. And at the time I didn't realize how big of a deal it was, but it was huge. So being in the Palm community and just seeing.
So many different kids with so many different symptoms on different levels. It's hard. And it's hard because for grant, we don't know what his future is going to look like. All that they can tell me is. His future is going to look better [00:28:00] than anyone who's come before him because he was diagnosed early and he didn't have any symptoms of the disease when he was treated.
He is monitored closely, but they still don't know. And it's hard to not know what things will look like and if a symptom will arise for him or when it will. So I love the Pompei community is amazing. I have connected with some amazing moms who have gotten me through the past year to be able to do.
Watch some of these kiddos and see how well they are doing, um, has given me the hope that I needed. So I'm very thankful for the Palm bay community. I guess it's like a lot of people say, it's the club you never wanted to be a part of, but I'm glad that this group is around and that I am a part of it.
Effie Parks: Yeah. I'm glad that you've, you're having that experience. And, you know, I just think, oh my gosh, And this is just exactly a year, like a little over a year for you. And that is such an insane time as a parent who [00:29:00] had a kid with a rare genetic disorder. And I think about all of the ball. I have been fired at you with having a gene that was passed down, having two, both kids, having two kids with a rare disorder, having a kid during a pandemic, having a kid with a disorder that has a treatment and maybe feeling a little.
Separate about it. And also just going through the grief of all of the things and then having a sibling to explain it all to you sound like you have done a lot of work in processing it, or maybe you're still so stunned. I'm not sure. Maybe it's all of it because we do figure out how to make it through our days, right?
Yes.
Alison Breitbarth: In some ways I feel like, oh my gosh, like it's been a year and other ways I feel like. It's only been a year. It's definitely been a long one. And I feel like, I mean, it took a good eight or nine months before I feel like we felt [00:30:00] like we were doing okay here again, but we kind of had life somewhat under control and.
We're rolling with all of the things that we had to do, his appointments have kind of slowed down some and are more spread out, but it's been a lot to process. And my husband and I, it took us a long time to get pregnant. And grant is an IVF baby. We wanted him for a really long time. And then to get this kind of news, it was really hard.
So I definitely, some days feel like, yes, I've absolutely got this and we're good. And then other days I. Start thinking about, you know, what things could be for him. And then if I get myself in a place where I don't
Effie Parks: like to be, what's it been like to find your people? Do you feel like you've found your community where you can be safe in where you can ask your questions in, or you can kind of bare your soul and do you feel connected at this point and that you have a tether, a [00:31:00] lifeline to people who are helping you with.
Alison Breitbarth: Yes. I feel like your discord group has been very helpful. I don't always say a lot in it, but it's always good to kind of read what other people are going through and just realizing like you're not alone, like Pompei, isn't the only thing out there. There are so many things out there. And so many people are going through so many things.
And then I have connected with a couple of moms here in Indiana who have kiddos who were born after grant who have, um, infantile onset Pompei as well. So it's been good to connect with them and talk with them. Um, as we kind of all walk down this road somewhat together. Separately as our kids are all still a little bit different.
And I'm hoping that since they came after grant that by sharing grant story, that we have given them some hope to know that it's going to be okay. And even though this rare disease diagnosis is so scary and [00:32:00] so big, I think the only way to get through it is to look for other stories where you can look at those kids and those families and see how, see how they're doing.
You know, I'm going to amen to that. Yes. So that's kind of what gets me through,
Effie Parks: so I know that you are, you're feeling it right. You're starting to advocate. You are on this podcast right now. Where do you feel like you're going to place your gifts and your passions of what you want to do? In the rare disease world, if any, because raising your kids is also a form of advocacy, but I wonder what's kind of vibrating for you right now.
What do you think is going to be, is going to be something that you want to put a lot of attention to? Yes.
Alison Breitbarth: So in the past, probably I've done. Since kind of grant got this diagnosis that we would want to do something. Um, and it's kind of been figuring out what that something is. [00:33:00] I don't want to do something that is kind of already there, but at the same time, we want to do a few things for Pompei.
And so we are in the very beginning stages still, but we are starting a foundation. And the hope is to raise some awareness about Pompei help with donating money, to research for Pompei, and then for Pompei, the leading kind of place to go is duke. And so for families that maybe don't live close to there, or aren't financially able to get there so their child can see this doctor being able to have money to then help families who need to get to duke, um, is one of my.
Things that I would like to do and see that foundation helps support that. Um, so grant is lucky enough that he is a patient at duke, um, as well as a patient here in Indianapolis at Riley. But yeah, so those are kind of my big things that. They're just started and we're, we're working on them, [00:34:00] but things take time, especially when you have two kids and a busy life.
Um, so it's going, um, Palm pay day internationally is April 15th. So I'm hoping by then, we'll be able to at least kind of announce what that's gonna look like. We, I have a good friend working on a logo and some things, so. We're getting there.
Effie Parks: Very exciting. I'll try to release the episode on the 14th in your honor.
I'll check the calendar. Do what I can. That's really exciting, Alison, and I wish you the best of luck and you know that if you need any help, I will connect you to people who can help you along the way. And I don't even need to help. You can reach out to them, yourself. They've all been on the podcast and they're the most amazing people.
So reach out to them. If you find someone who has something that you need.
Alison Breitbarth: Yes, I definitely, well, we'll just have to hope it all. That's all going, so,
Effie Parks: okay. Well I could talk to you forever and [00:35:00] now I have so many questions, uh, beyond, beyond this episode, but I'd love to know anything that you would like to share further with any family listening.
Who's just about to have a baby or who's just gotten a diagnosis from a newborn screening panel. Any of any advice to those moms who are just beginning? I would say.
Alison Breitbarth: You know, newborn screening is you'll realize how thankful you are for it. Even at the time when it robs you of so much. I feel like getting that phone call that I missed out on, you know, kind of his first few months of life.
Pompei. It was just constantly on my mind, but know that it is going to get better and you'll find your people and just, you've got to hold onto the hope and know that the things out there are going to help you get through it. And yes, it's just, it's all going to be okay. Even though it takes some time to, to get there.[00:36:00]
Hey,
Effie Parks: man. All right, Alison, thanks so much for being my guest. And I'm so excited. I got to learn more about you and your boys and this wild last year of the life you've been living and I'm always here to help, however, okay.
Alison Breitbarth: Yes, I appreciate it. And
Effie Parks: thanks for having me. I hope you've been enjoying this podcast.
If you like, what you hear, please share this show with your people and please make sure to rate and review it on iTunes or wherever you get your podcasts. You can also head over to Instagram, Facebook, and Twitter, to connect with me and stay updated on the show. If you're interested in sharing your story, or if you have anything you would like to contribute, please submit it to my website@effieparks.com.
Thank you so much for listening to the show and for supporting me along the way. I appreciate y'all so much. I don't know what kind of day you're having, but if you need a little pick me up, Ford's got you.[00:37:00]