Transcript
Jessica Fein: Welcome. I'm Jessica Fein, and this is the “I Don't Know How You Do It” podcast, where we talk to people whose lives seem unimaginable from the outside and dive into how they're able to do things that look undoable.
I'm so glad you're joining me on this journey and I hope you enjoy the conversation.
Welcome back to the show. My guest today is a mom who changed her career and entered the medical field when her daughter was diagnosed with an ultra rare disease. Kelly Heger is mom to four children, one of whom, Jillian, is the fourth in the world with an ultra rare severe and disabling brain disease called AADC.
Jillian is 27 years old and requires around the clock medical care. [00:01:00] She has a trach, which, if you don't know, is short for a tracheostomy tube. My daughter Dalia had a trach too. A tracheostomy is an opening surgically created through the neck into the trachea, which is our windpipe, to allow air to fill the lungs, creating an air passage in the neck for breathing.Jillian uses a ventilator which attaches to the trach tube to help her breathe.
When Jillian was first diagnosed, Kelly worked in the legal field, but in a quest to confidently understand her daughter's disease and to be able to provide the very best care for her, she became a registered nurse. Kelly and I talk about what it's like to care for a child with such complex medical needs, how challenging it can be to find care for family members who require skilled care 24/7, and even how she involves her two German Shepherds in Jillian's care.
I think there should be a whole podcast episode or documentary about those two dogs. Kelly refers to herself as “just a mom who's trying to provide [00:02:00] hope and balance” for her family. And that may be true, but she's also a hero who not only became a nurse herself, but now trains other nurses and works to raise awareness through the AADC Family Network, which she founded to provide support, education, and medical intervention for families affected by AADC. Without further ado, I bring you Kelly Hager.
Welcome, Kelly. It's so great to have you on the show.
Kelly Heger: Thank you so much for having me and for wanting to know about my daughter and her disease and my family and me.
Jessica Fein: And you and you because your story is pretty extraordinary. So let's bring our listeners up to speed so they know what it is we're talking about.
Tell us a bit about your family.
Kelly Heger: I want to start with my husband because that's where it all began, right? My husband and I just celebrated our 31st wedding anniversary. Congratulations. Thank you. And so obviously I'm married and I have four wonderful children. My oldest [00:03:00] is 30. By the way, they all live at home.
Jessica Fein: Oh my.
Kelly Heger: Yep. My oldest just turned 30. And then my daughter, Jillian, and she's the one that is my child that's not well. She's got AADC, and then I have a son, Brett, and he's 23. And then my daughter, Jenna, she's 22. Jillian is 27, and she has the rare disease.
Jessica Fein: So first of all, four grown children living at home, in my mind means you either did something totally right and they adore you and just want to stay close to home and be together, or you did something totally wrong and they're, they're not going away and you're still stuck with this bustling home.
But either way, that's pretty unusual to have four grown kids living at home. And hopefully they help you with Jillian because you mentioned Jillian has AADC. What is that?
Kelly Heger: AADC is a rare brain disease. It's a devastating disease. AADC stands for Aromatic L Amino Acid [00:04:00] Decarboxylase Deficiency. And it's a rare brain disease that affects two critical neurotransmitters in the brain, dopamine and serotonin.
At the end of the day, AADC affects all of your body's movements. Your body contorts in abnormal posture. Your breathing becomes extremely raspy. You have trouble breathing. There's a lot of vomiting, severe rigidity. So you've got hypo and hypertonia, you have excessive salivation in the mouth so you can't control all that saliva in your mouth and your body basically doesn't do what it's supposed to do.
So at the end of the day, it's a severe, devastating disease and there's no cure. There's barely any treatment and the treatment that is there for it doesn't really help.
Jessica Fein: A lot of families with rare disease talk about a diagnostic odyssey. Because these diseases are rare, the doctors aren't looking for them, right?
And so I'm wondering if that was your experience with Jillian, how old was she when she was diagnosed?
Kelly Heger: I always say we were lucky. She was [00:05:00] diagnosed at five months of age. But that was a hard journey for us as a family to even get that diagnosis. She was born, what we thought was a normal birth. We went to the hospital, had what I thought was a normal birth, came home, and literally within 24 hours, I had to go back to the hospital.
What happened was, I wound up getting a mastitis infection, and I had to go back to the hospital to get treatment. I went to the emergency room, and my husband was with me, and I asked him if he would please just take a walk with Jillian, because I was afraid we were in Boston, and it was snowing, it was cold, and...
You know, people with other illnesses.
Jessica Fein: You always wonder what you're going to catch when you're in the emergency room.
Kelly Heger: Exactly. And I was afraid she was going to get sick. So I asked him to please just take a walk with her and he didn't know where to go. So he went back to the mother infant unit.
While he was standing up in the elevators waiting, a nurse came out and saw him and she's like, hey, what are you doing here? He goes, um, my wife, she's having an issue. She's down in the emergency room. And you [00:06:00] know, I just took a walk. And she's like, oh, how you doing? How's Jillian? And he's like, oh, she's great, you know.
But every time we kiss her and he kissed her on the forehead, he said, She feels cold and the nurse was like, oh, do you want me to take her temperature? And he's like, yeah, that would be great. So they had sent me back upstairs. I didn't belong in the emergency room. So they sent me back to wherever the examining room and when they came in, they were examining me and the nurse came in to take Jillian's temperature, took her temperature and then said, oh, I'll be right back.
Something's wrong with this machine. So came back in with another one, took a temperature again. And kind of looked at Bruce and said, I'm going to go show Jillian to the girls. Took Jillian from Bruce and left the room. Bruce felt that was odd. Mind you, I'm clueless. I'm like being examined, talking to the doctors, clueless that this is even happening.
And then he went out to go see what was going on. And they basically said, you have an emergency. They coded her. They stuffed Jillian in his shirt and said, you need to get down to the emergency room [00:07:00] right now. So they basically whisked us down there. Jillian had severe temperature instability, her temperature was 93 degrees, and they basically had said that she would have probably died of SIDS at home, that's what they would have called it, within probably three hours she was that hypothermic.
Jessica Fein: My goodness. Okay, so now you think you're going there for mastitis or whatever, not to minimize that, but all of a sudden Jillian is whisked away, that was day one, and within five months you understood that she had AADC.
Kelly Heger: Yeah, we wound up in the hospital for a month after that. They did what they called a million dollar workup, so they did every test under the sun and could not find anything wrong.
Then we went home and so now she's about a month old and it took me from age four weeks to five and a half months to get my diagnosis.
Jessica Fein: How many people have AADC?
Kelly Heger: I believe there are probably, right now, after 27 years, about [00:08:00] 200, maybe 250 children in the world. Jillian is the fourth child in the world diagnosed with AADC.
Jessica Fein: So you were in the legal field before you had kids?
Kelly Heger: Yes.
Jessica Fein: That was what you were going to pursue. You were, you were in law. At what point did you decide the law is no longer for me? I'm going to professionally enter the medical field. I am going to become a nurse. When did you have that idea?
Kelly Heger: That didn't happen until after Jillian was diagnosed.
Jessica Fein: Was it like, okay, Jillian's diagnosed, she is one of this teeny number of people in the world and I'm going to become a nurse, or was it kind of over time as you were learning more? Like, how did you get to that idea? Because it's fascinating to me, so many medical parents become de facto nurses, right? We learn so much along the way, but you took it to a totally different level, and you decided to actually become an RN.
Kelly Heger: I think that it was a combination of various situations, circumstances, [00:09:00] experiences. It did happen fairly quickly in the beginning of my journey. I believe it took place more because of my inability to understand. what the physicians and doctors were trying to tell me and the experience or the representation that I would get back from a physician.
I believe in my heart that I really said I was going to do it after we were in the hospital. We didn't have a diagnosis yet. And we had a physician who was basically downplaying my ability to understand. Or grasp what could be wrong with my daughter. So she would use some terminology and basically say to me, You won't understand.
Because what I did is, prior to me even getting to my diagnosis, I was going to the library. Kind of like, you ever hear that movie Lorenzo's Oil?
Jessica Fein: Did I ever hear of it? Of course I've heard of Lorenzo's oil. I thought I was going to be with my daughter, like the next version of [00:10:00] Lorenzo's oil. You probably thought you were going to be with Jillian, right?
We all think there's going to be some kind of potion named after our kid because we're going to solve it, right?
Kelly Heger: Right. Exactly. Exactly. And so prior to me even getting to this point to be in the hospital, I had been at the library. Countless hours bringing home stacks and stacks of books just trying to look up anything and everything that could get me to a diagnosis of what was wrong with my daughter because nobody was believing me.
Nobody was listening. So I was trying to figure it out myself.
Jessica Fein: And 27 years ago, you couldn't just Google. So you're actually bringing home real books.
Kelly Heger: Exactly. Real books looking up words that definitely weren't medical terms. They were layman terms like droopy eyes. That's called ptosis. I didn't know that medical term.
I couldn't look up ptosis. I had to look up droopy eyes or I had to look up floppy body. That's, you know, floppiness. That's hypotonia. Those are words I didn't know. But I had to look all this up and I was just trying to gain the knowledge, maybe finding what was wrong with my daughter. I [00:11:00] was thirsty for that knowledge.
I wanted it. And so I asked the physician if she would please give me some material on what they thought might be wrong with my daughter. And she basically said, Oh, you won't understand it. You don't even know what dystonia is. And dystonia is the rigidity, basically, of the muscle contraction of the body.
It's when the child's having the abnormal posturing and their body gets very stiff, rigid and dystonic. So it's a type of posture and no, maybe I didn't know what dystonia was to that level, but that's what made me say, I'm going to figure this out. I'm going back to school and getting the knowledge. I'm going to know how to take care of my daughter from top to bottom.
So I did.
Jessica Fein: Becoming a nurse is such a huge journey in itself, even if you were doing it, you know, without any kids at home or you were doing it with typical healthy kids at home. You decided to do it for such a powerful reason while you're taking care of these very intense needs. How did you do that? How did you go back and become a nurse while taking care of not only Jillian, a whole household?
Kelly Heger: As a parent with a child with a rare disease, I think right from the beginning, we not only make sacrifices, but we make a commitment. And I made a commitment to my family and I made a commitment to Jillian. And I basically said, I'm doing it regardless how I did it. I still, I look back and I can't even believe I did it because you're right.
It was extremely tough. I didn't get any sleep. So 24, 48 hours. in a row because I couldn't do any of my schoolwork until the children were in bed. And so I would have to stay awake all night long and just get it done. I would wake up to study. I'd wake up at, you know, two in the morning and I would start studying then because the kids would wake up at 5 or 6.
And so I could get a few hours in before they got up. But I made the commitment and I stuck to it and I did it. How many years did it take? When I finally went full time, it was two years. But I did all my prerequisites prior to, so I did all that over time. [00:13:00] That took several years.
Jessica Fein: During this time, and even now, I'm curious, do you qualify?
Do you get professional nursing in the home?
Kelly Heger: Yes, Jillian is, as I think I've heard you say, your daughter Dalia was eyes on child. Yes. Those were the words. Yes. Jillian is very similar. You can't leave her bedside. So she is hands on bedside care at all times. Although the disease itself is not a degenerative disease.
When your child isn't able bodied and using the muscles and even the cognition, even though she was there mentally, even that is delayed because they're angels and because they can't really physically do all the things they're going to do, that it's slowly going to get worse. So I call it atrophying over time.
And so she started off with all of this horrible, uh, disease process that I explained. So the biggest thing, they vomit a lot, these children, their bodies can't metabolize appropriately. And so they're constantly vomiting, which causes aspiration and difficulty breathing. And so all the aspiration over [00:14:00] time causes difficulty breathing and the vomiting causes poor nutrition.
So over time, she got so weak that she couldn't clear her mucus, she couldn't clear the secretions on her own. We had to make the decision to do a trach, and with a trach comes a vent, because they don't breathe as well. You know, it's, they're compromised.
Jessica Fein: How?old was Jillian when she got her trach?
Kelly Heger: 19.
Jessica Fein: Ah, Dalia was 9. So once you became a nurse, did your confidence change? Did you just want to go back to that doctor who had been so condescending to you and say like, talk to me now, doc?
Kelly Heger: It's funny because that doctor was in on our actual diagnosis. And wound up falling asleep when we were getting our actual diagnosis.
And my husband said are we keeping you up? She got in a lot of trouble from,
Jessica Fein: oh my God, she should have, I can't believe it.
Kelly Heger: Yeah, she fell asleep and I'm sure she was tired and doctors, you know, they also have to stay up to, especially in the beginning. But [00:15:00] yeah, so she fell asleep. So I do wish I could go back and say, look what I've learned.
Jessica Fein: I would've started to throw things. You know, throw things right at her to wake her up.
Kelly Heger: I didn't even notice it, to be honest with you. I was just listening to what they were telling me about what my daughter had. I wasn't even paying attention to anybody else in the room other than the neurologist that was giving me all this information.
It was just hard to even process the diagnosis, never mind recognize. Who else was in the room at the time?
Jessica Fein: And who was awake or not awake. So did your confidence change?
Kelly Heger: Absolutely. You know, you grow. You become more confident. You become, I think, more established. You have better communication skills. The knowledge just in general, I mean, you mentioned earlier about becoming a nurse by default, if you will.
After getting the actual education and working, not just for your child, but I also worked out in the field. And so then I gain knowledge by working with other families and providing critical care. All of [00:16:00] that, every day, just like anything else, your confidence builds. So yes, I feel much stronger in my ability to not just care for a critically ill child, but my confidence grew from myself.
It built me up. Does that make sense?
Jessica Fein: Absolutely. Absolutely. And I can imagine, I mean, obviously in being in such a respected and important career, and I think nurses are the biggest heroes. So I can see how that would build up confidence under normal circumstances again, which this clearly was not normal circumstances.
So I was wondering whether you cared for other children or other families as well, or whether your knowledge and your experience was fully devoted to your own daughter.?
Kelly Heger: Right now, everything that I do is for my daughter. We lost a lot of nursing because in the nursing world, it takes a very special person to be able to come into someone's home and not just provide the level of care, but make sure that [00:17:00] the parents respect and also believe that that nurse coming in can provide that level of care.
And through COVID, that was the other thing, we lost so many nurses. And now I find it very, very difficult to get a nurse, retain that nurse and keep them for that longevity. You don't just come into the home and be able to take care of Jillian and I'm sure you found the same. There's a learning curve and so I get a lot of nurses who have no knowledge.
Not only do I have to recruit them, but I have to educate them. So I educate them head to toe and that's months of training that I have to provide so that I can even get a break myself. These nurses come in with no trach, vent, IV experience, no oxygenation therapy, no medication experience. Some of them are brand new grads.
Even if you have the skills, you still have to learn Jillian. You still have to learn all about her and what her needs are. It's very, very difficult to retain nurses in home care at the complex level.
Jessica Fein: I agree. And I want to [00:18:00] go there. Can you, for listeners who aren't as familiar with some of the terminology, can you explain what TPN is, please?
Kelly Heger: Total parental nutrition. So total parental nutrition is a means of nutrition through an IV. It supplements all of your feeding through an IV.
Jessica Fein: So, kids like Jillian, dalia, just for people to understand, aren't eating orally. And of course, because they have the trach, they have these aspiration issues, there may be vomiting issues, etc.
So that's what we're talking about when we're saying TPN. We're talking about in addition to being dependent on a ventilator to breathe. We're talking about also full support in terms of nutrition. And you know, you and I could talk all day long and then a list will be like, I don't know, what is the NICU?
You mentioned NICU? So it reminds me that some people, and how awesome for them don't know some of this terminology. But the home nursing thing is such a double edged sword because on the one hand, thank God, [00:19:00] like we could not function without it. But on the other hand. First of all, as you say, to get somebody with the skills and the bedside manner, the compassion, because they're going to be in your house all the time, that in and of itself is so hard and hats off to you for doing so much training.
We didn't want to do months and months of training. We might lose the person. And also, by the way, we weren't medical professionals, right? So we're looking for somebody to come in who has experience. And of course, when you're talking about rare diseases, and when you're talking about pediatric experience, there just aren't that many people with that experience.
And also. In a place like Boston, there's a huge number of job opportunities for the people who have the experience and they're probably going to prefer to work at, I don't know, Children's or Mass General than they are going to want to come into somebody's house. So by default, I think some of the people who choose to do the in home care aren't necessarily the people we would choose if we could choose from everybody.
I don't know. Was that your experience?
Kelly Heger: It [00:20:00] is, and so I learned about something called independent nursing. In Massachusetts, nurses can become an independent provider. So what I did in the beginning is I would recruit and then I'd send them off to an agency. Because the agencies weren't finding us any nurses, like you said.
In the pediatric world, it was hard. So that's when I started my journey on at least finding the nurses. So I'd befriend the nurses and talk to them and tell them how wonderful it is in home care. And I'd send them off to the agencies. Well then, the agencies stopped sending me nurses. because I was getting them for them.
So they completely stopped sending me nurses. I already knew about independent nursing, but to be an independent provider, you have to be more than, right? So you're basically an agency yourself. You have to do all the paperwork yourself. You have to have your own chart. You've got to technically write your own database so that you can do the paperwork alongside provide the care.
You also have to learn about the billing system. So there's so much involved that I didn't tell a lot of people about being independent because it's hard. But then I decided, you know something? I'm doing all the work anyway. I'm going to teach them how to [00:21:00] be independent. Like you said, the competition goes, they're going to want to go work at the hospital.
But as an independent provider, you make 10 to 20 more an hour. So I was able to encourage a lot of nurses based on pay. I know pay is not everything. Nurses do have to take care of their families. And even though it's a job and they love their job, financially, they have to be able to help support their families.
So that was a big plus for me in getting nurses in. through COVID, there was a lot of raises. The agencies were given a lot more money, and they didn't really give it back to the nurses. And so we were losing a lot of nurses, but independents get the actual money. Does that make sense to you?
Jessica Fein: Of course. And so, right, what we're talking about is typically you go through these nursing agencies who staff your hours. And first of all, no nursing agency really can fill all your hours when you're talking about kids like Dahlia and Jillian. So you're working with a number of different agencies and trying to coordinate it. But the nurses, it's like anything, if you work for a temp agency or any kind of agency, the agency's getting the money [00:22:00] and then they're paying the nurses.
So what you decided to do is absolutely brilliant, because what you're saying is come work for us and you're going to get 100 percent of the money, it's not going to go to an agency. And I'm wondering, I mean this would have been like my fantasy back then, do you educate other parents on how to do this?
Because this is brilliant.
Kelly Heger: Yes, I do. There's a lot of work involved to educate the family about trying to educate nurses to become independents. So instead, I do a lot of work with educating nurses on how to become independent because at the end of the day, it's the nurse that goes into the family's home to help the family stabilize and care for their child.
Jessica Fein: Do you think that your medical knowledge altered the trajectory for Jillian?
Kelly Heger: I definitely think so. I think that it obviously helped me with communication, right? It also helped me to pick up on the slightest of change. And with that, a slight change can make a difference between a life [00:23:00] saving event versus not.
So it definitely kept Jillian out of the hospital because my skills improved. With each day, my confidence improved. Over time, and I know that you know this, even though you weren't a nurse, the level of care you have to provide and the skill you have to provide to keep your child safe, comfortable, at home, and giving quality of life is incredible.
It's a, I don't even think people can understand the actual work that goes involved because if you're not doing it, I don't think that you can really understand it. So, yeah, being a nurse has changed everything for Jillian. It's kept her alive. Jillian's at risk every day for sudden death. Children are dying with this disease, and I think a lot of it could be that the unknown, not knowing why, or that they have autonomic instability.
Autonomic instability means that your heart rate, your blood pressure, everything can kind of change at any time. But if you notice that you can kind of do things to keep her alive, [00:24:00] so she has a vasovagal event. What happens is she'll gag, she'll vomit. I clear her airway, but what winds up happening is her color changes.
She turns pale white, then she loses consciousness. Her heart rate will drop down to 20s, 30s, her saturation levels will drop into the 70s. So I have to clear her airway first. After her airway is cleared, I will take the pillow out from under her head. I will put her into a Trendelenburg position and then I'll bag her because bring her sats back up.
Jessica Fein: Okay. You've got to explain it. People are like, bag her? What is that?
Kelly Heger: I'm sorry. Yeah. So when I say bag her, that's ambu. So I have to ambu her via the trach and what that does is it gives her breaths so that She's breathing. And I'm sure you've seen, it's like CPR. So CPR with a handbag ventilation, ambu. I know I say bag, I apologize.
Jessica Fein: No, I know I do too. But you know, again, it's like people hear these things. And what we're talking about here is just this highly, highly, highly skilled care that [00:25:00] these kids need and precipice. 24 seven. And as you say, it is life and death all the time, which begs the question, I think, because when you're in a situation that's high stress, you can feel the physical response, right?
People get that. Like if you're on the top of a cliff and you know, you get that fight or flight, you're like, you're living with it all the time. So how do you, for yourself, Deal with that, with being in fight or flight all the time, with being in a constant state of life and death, being in a constant state of stress.
What tools do you personally use that allow you to function, to not only care for your own child, but to be getting out of the house and caring for other people? What do you do?
Kelly Heger: I just do. I guess as I expressed earlier, I made the commitment to be there and to provide quality care and with commitment comes a way of life.
I also think that Jillian taught me. We were given a beautiful gift and that's how I [00:26:00] look at this. I look at Jillian as a gift that I was given, a gift for me to learn in life and for me to grow and keep my feet grounded and embrace. An angel living in my house and I think it gave me a sense of calm and stability as I watched Jillian fight every day and wake up and smile.
And if she can fight every day through all this illness and still smile, then I have to too. And I found being calm and being positive is the way I got through life and the way that I'm able to continue to fight through these stressful moments. I have to give it back to Jillian. I don't even really know how else to say it.
I think that, you know, I was inspired by her, and she just gives me strength.
Jessica Fein: I understand. I get that. It's so beautiful. Do you ever get alone time?
Kelly Heger: Not really. My alone time, I'll tell you, and you probably think I'm crazy, I have two German Shepherds. So in my spare time, [00:27:00] I train and I show my German Shepherds.
That's what I do. Animals to me are just, they're beautiful and smart. And if you're kind, then they're so loyal. And that's what I do on my spare time is train with my dogs.
Jessica Fein: How do the dogs react with Jillian?
Kelly Heger: Unbelievable. And as a matter of fact, not only are they my German Shepherds, they're my dogs, but they're also service dogs.
So I've trained them how to help me with Jillian. So if I'm alone, and I think I heard you say this as well, you can't even go to the bathroom. You have to take your child with you. Unfortunately, Taking Jillian when she's on the vent intrigued and all that, that's not possible. So, we have a camera system, so I usually will wait till Jillian's sleeping and, you know, run in with my camera.
But during the day, sometimes it takes two people to take care of a child with such complexities. And one of the things that I had trouble with was That dystonic [00:28:00] posturing I told you about. So when Jillian is in a forced rotation, throwing her head off to the side and shaking, she's going to go and pull that trach out, not on purpose, but through abnormal posturing and tremors and inability to use her muscles the way they're supposed to be used, she gets contracted in abnormal ways.
So what I taught my dogs to do, One at a time, not together. Only one comes up on the bed when I need them, via command. But I will ask my dog to hop up, and I will use commands. I usually say, help, and he will look at me, or she will, and I'll say their name, and that one gets to come up. And I'll say, cover, or chin, and he'll put his head out.
I put my hand there, he puts his head on my chin, and then I say, cover. And he takes his paws, and he covers her hands. And then he puts his chin down, so he'll hold her hands, so I can do all her trach care. Because she's twisting, and I'm not going to be able to get the care done, I'll get that suctioning done, so he'll help me.
So I've trained him to do [00:29:00] that. The other thing that they help me do is, Jillian has temperature instability. So when she comes out of the shower, she's quite cold. And so I've taught them how to come up onto the bed and I say bang. It's kind of silly, but he plops down like he's been shot or something.
And he'll just take his whole body and lay right next to her with his head. on the pillow and his head right next to her head and his body next to her to help keep her warm. And it actually helps with the tremors too. It's a physical support on top of warmth. And you know,
Jessica Fein: what we're talking about here too, there's so much machinery and it's so delicate.
And so to have these big dogs come up and not pull the vent out or pull the trach out or, you know, jar something, but instead provide that kind of assistance. I have goosebumps. That is remarkable.
Kelly Heger: Yeah, it's beautiful to watch too because they're German Shepherds, they're high energy, they're working dogs, but their temperament with her, they just all of a sudden become calm and they know to just settle.[00:30:00]
And they wait, they literally sit and wait for your command. And she loves it. She just loves it. She loves them and she lights up the second she sees them. And when they're in her bed, even more so.
Jessica Fein: That's amazing. So first you trained yourself by becoming a nurse, then you're training other nurses. You're teaching people about independent nursing.
You've trained these dogs. My goodness, what an incredible, incredible amount of teaching and inspiration you're doing. It's really just mind blowing. Now, October 23rd is AADC Awareness Day. And first of all, it's amazing that a disease that has so few people has an Awareness Day. Can you tell us how that came to be?
Kelly Heger: It's not just something that happens. You have to get a bipartisan support. I had to reach out to Congress and get a resolution to create Awareness Day. And so I did that, and then my first ever Awareness Day was done like this, through like a Zoom. But the last three, we're coming on the fourth one now, are in person.
So [00:31:00] I do a live communication where I am trying to bring awareness to anybody and everybody that'll listen. And I do it with my co host, Bob Coughlin. He's wonderful. And he's also a dad of a child who also has a rare illness.
Jessica Fein: Why is awareness so important?
Kelly Heger: Without bringing awareness, nobody knows about this disease.
If you don't know about it, you can't diagnose it. If it's not diagnosed, you may suffer with an illness that otherwise could possibly be treated. For example, cerebral palsy. You're only treating symptoms. With AADC, you're actually treating the disease. In addition, there is a new, amazing gene therapy that is actually getting these children from being like my daughter, unable to sit, crawl, talk, walk, trach, vent, g tube, j tube, TPN, oxygen therapy, medication, to walking, talking, and having an actual normal life.
And I had the [00:32:00] opportunity to meet a child who, actually she took my breath away, I even get emotional now. It's, it's breathtaking to see a child given life back and even though my daughter may not get this opportunity, I'm going to work my tail off to help any family, any child know about this, families, physicians, metabolic specialists, neurologists know about this disease because.
You might save a life. So Awareness Day is so important because we're saving lives.
Jessica Fein: Well thank you for everything. Thank you for coming on this show and sharing and making all of the listeners aware and for just all the incredible, incredible things you're doing on the home front and in the community as well.
It's really my honor to know you.
Kelly Heger: Oh, thank you so much. I so appreciate you just even having me on the show and wanting to learn about us and the disease.
Jessica Fein: Here are my takeaways from the conversation with Kelly. Number one, sometimes we don't know how we do it. We just do. [00:33:00] And often it takes the other side of that situation to realize what it is we did.
Number two, we can learn from and are inspired by our kids resilience and struggle. Kelly looks at Jillian and sees her smile and knows that if Jillian can get up every day and smile, Kelly can do what she needs to do, too. Number three, it's so important to share your knowledge and your skill with others.
Number four, when it comes to rare disease, knowledge is power. And number five, Dogs can be magical.
I hope you enjoyed this episode. As always, if it spoke to you, please share it with somebody, you know, especially if you know a nurse, go ahead and share this episode with them. Also, my book is available for pre-order Breath Taking, A Memoir of Family, Dreams, and Broken Genes.
So while you're thinking of it, go on Amazon or bookshop.org, Barnes and Noble and pre order my book. Thanks so much for listening. Have a great day.
