Information for caregivers
The Heger family’s AADC deficiency story
Watch one family talk about their experience with AADC deficiency and their journey to get a diagnosis for their daughter.
Kelly: My name’s Kelly Heger. I am a mom of 4 children and I have a lovely husband, Bruce.
Kelly Voiceover (VO): My children, in ages are 25, almost 26. 19, almost 20, that’s Brett and Brian, Brian is first then Brett. And Jenna just graduated high school, and she’s 18 and then of course, my special Jillian, who’s 23 years old.
Kelly (continued): I’m a registered nurse and I became a nurse basically because of Jillian.
Kelly VO: She inspired me to go back to school, and the reason for my going back to school…
Kelly (continued): …was really to communicate more effectively with physicians. I felt that I really needed that knowledge base to be able to…
Kelly VO: …understand what they were telling me about what was wrong with Jillian. And it’s really helped me because…
Kelly (continued): …I have been able to take care of Jillian so effectively by just going back to school.
Kelly: So, when Jillian was born, we were quite excited…
Kelly VO: …and we went home from the hospital with this beautiful, tiny little baby. And we were thrilled. And within 24 hours, unfortunately, I got sick.
Kelly: I got the chills. I had a fever. So I had to go back to the hospital. And I remember being in the emergency room with Jillian and I said to my husband, “Would you please just take her for a walk?” I was afraid she was going to get sick. So he’s like, “I get it. Okay, I’ll go.” And so he went up to the mother-infant unit where we had just left the night before and I wasn’t supposed to be in the emergency room either, so I was also supposed to be in the mother-infant unit. So I went up there to be examined.
Bruce: I stood outside the elevator, just in the hallway, just pacing around, waiting for my next instruction and a nurse came out and happened to see me and she was asking why I was back there. And I told her what was going on with my wife and she was the one of the nurses that was there for the few days that we were there. And she was like, “Wow, look at you, you look like a big proud daddy.” And I was like, “Oh yeah. And I love, well, I love my little baby” and I kissed her on the forehead, and right then I said, “Yeah, but you know, every time I kiss her, she just seems so cold.” She goes, “Oh, let me take her, I’ll take her temperature.” She tried to take my daughter’s temperature and then started tapping on the thermometer, like it wasn’t working. And, she said, “I got to get another thermometer.” She hands the baby back to me and she leaves the room, comes back, another digital thermometer. She starts taking her temperature again—that’s when she got up really fast and turned to me and said, “I’m going to take the baby to see the girls.” And again, I thought it was really odd. I sat there for a few seconds thinking about it and she had left the room and I said, “Huh.” I didn’t want to alarm Kelly.
Kelly: Yeah, I had no idea what was…
Bruce: And I said, “Hey Kel, I’ll be right back. I’m gonna go see what/where Jilly is.” And the second I left the room, there were, it was like code blue. Everything was, crazy out in the hallway and they told me that Jillian was having a serious issue, and they put her in my shirt to keep her warm.
Kelly: Her temperature was so low that she would have died within 3 hours. And had we not gone to the hospital, we wouldn’t have known.
Kelly VO: We stayed in the hospital for over a month maybe, and they did every test they could do.
Kelly (continued): All the metabolic tests, all the blood tests. They did, a test for Down syndrome. She had severe ptosis of her eyes. So her eyes were extremely droopy. And so they were asking us all kinds of questions about does anybody in your family have X, Y, and Z? But everything came back normal. So we went home with a baby that we thought was normal. And around, I’m going to say 3 or 4 months, I noticed, I knew something was kind of off with just feeling her and the way, you know, she felt in my arms, she kind of felt like floppy, like just kind of like listless.
Kelly (continued): She slept 20 hours a day, didn’t really open her eyes a lot. She had trouble feeding. She wasn’t feeding very well, but I didn’t, I mean I knew something was not right, but not quite sure because you’re a new mom and then you know, your pediatrician, your visits, they would be like, “No, she’s doing fine.” And then right around 3 months she started having—I know what it is now, back then I didn’t—it was oculogyric crises of which I had no idea that’s what it was. I thought she was just getting overexcited in the afternoon so she would hyperextend and throw her head back. That was clearly an oculogyric crisis, but I did not know that. And then she’d have the raspy breathing, difficulty breathing, nasal flaring. She would become extremely diaphoretic, sweating, beads of sweat all over her head, all over the forehead, all over the top of her head. She would just bead with sweat and it was classic. Every day, at 3 or 4 o’clock, she would arch back, roll her eyes back and become dystonic. And obviously I didn’t know those were the words to use back then, but back then I would tell the doctors that she became stiff. She was stiff. She was uncomfortable. And then I also started saying how she looked like she was having seizures.
Kelly (continued): So one day she was having one of these episodes and I called Children’s Hospital, I called the emergency room and I just explained, I said, “I have a little baby, she’s five months old and she is having, I don’t know if it’s a seizure, but it looks like it, her eyes are rolled in her head. Her body’s all twisted and she’s having abnormal breathing.”
Kelly VO: And, they were like “Call an ambulance, call 911 right now.” So we packed her up and we went to Children’s Hospital.
Kelly (continued): We had her in the emergency room. She was in one of her spells. So what they did is they obviously gave her medication to calm that spell down, but, thankfully, the doctor that was on call that weekend was Dr. Swoboda who diagnosed the first case in our country 2 months prior, and we would just by chance, lucky, lucky, lucky, lucky that I wouldn’t say lucky, but for us, we felt we had a diagnosis when we met her. She basically said to us straight up, I can’t tell you that this is what it is, but I’m almost positive this is what it is. She did the workup, she did a spinal tap and two months later we got the diagnosis and that’s when life took a different turn.
Kelly: It’s AADC deficiency.
Kelly: So Jillian was diagnosed at 5 and a half months. She was the youngest child to be diagnosed with this disease and the fourth child in the world.
Kelly (continued): I want to say in the beginning we were kind of almost relieved to have a diagnosis, it was a big deal.
Kelly (continued): The hard part came when the disease started to progress.
Kelly VO: In the last couple of years, Jillian obviously has taken a decline.
Kelly: She got the trach and the trach kind of was a big, huge thing to get over. It was tough. She had…
Kelly VO: …severe, neurostorming, severe dystonia.
Kelly: A year, almost 2 years ago, she got her PICC line, so she has to be IV fed instead of…
Kelly: …fed through her J- or G-tube.
Kelly VO: She’s just beaten so many odds. Part of her journey is my husband and I and our family’s journey and right now…,
Kelly: …every day I come into Jillian’s room and, I mean, I obviously I need help. I can’t do this 24/7. So…
Kelly (continued) VO: …we do have nursing to, to help us—not as much as we need.
Kelly (continued): Right now, our support system is great, but it’s not enough. And the reason why is because she’s so difficult. So Jillian is approved for 24/7 nursing care so that she can remain out of the hospital.
Kelly: Jillian is—she’s an angel. She’s an angel. We feel like we’ve been blessed with an angel, and Jillian’s got an amazing spirit. She’s just—she’s fun. She’s witty. She’s courageous, obviously, because she goes through so much. But Jillian’s likes…oh, she’s, she’s, she’s funny. She’s always been, at you know, outside of the discomfort and the pain that she suffers through because of the disability. She wants to be happy.
Kelly VO: Jillian is, just, she’s full of life. Jilly, outside, like I said, of her disease process, she wants to be happy and you can see it because it’s—her eyes are just, they’re there. You know, she, she looks at you, not through you, so she’s with you, in conversation and, in play.
Kelly (continued): I know that the journey has taken us to a different place right now, but like, if I could step back into her world growing up, she just—she just wanted to be part of everything.
Kelly VO (continued): I don’t think she thought she was any different than anybody else. So I treated her that way. We’ve done so much, so much with her and my motto was, you’re going to do everything that any other child could do. So if you want to dance, we’re going to dance.
Kelly (continued): And we would, you know, and she’d kick her arms and her legs and we’d spin her.
Bruce VO: The first thing I do when I come home is I go see Jillian and jump into bed with her, give her a bunch of kisses and…
Bruce (continued): …and you know, and well, you know, that’s, to me, that’s very important that I do that. I watch movies with her at night and you know, I try to help the nurses as much as I can.
Bruce VO (continued): I like it when Jillian’s brothers and sisters lay in there.
Bruce (continued): It makes me happy. It makes me feel like it’s not just me, it’s everybody. You know what I mean? So that’s important to me.
Kelly VO (continued): We’d go on—kids like sledding. She didn’t miss out on sledding. We’d toboggan, we’d go tubing. In, we call it tubing in a sled, but we also tubed in the lake. She loved to make snow angels and catch the snowflakes on her face.
Kelly (continued): I would obviously help her with her arms and her legs that she could make the angels.
Kelly VO (continued): She loves walks. She loves to go for her walks and loves to be in the back porch and, oh, loves swimming. We haven’t been able to go since the trach.
Kelly (continued): Loves to just be part of everything. Loves to sit by the fire. Loves the wind in her face, loves the beach. So if you—she, just like any other kid, you know, she just wants to be part of it. And I feel, that’s something that we felt really good about is that…
Kelly VO (continued): …we didn’t treat her differently. She just, Jilly just loves, she just loves life.
Bruce: There were days that we do simple things like when all the kids were outside rollerblading. She bought Jilly some roller skates and she took her out there and held her and got her roller skating with the kids and…
Bruce: …she was laughing. It was insane. It was like so good. Simple things, you know, you gotta do it all.
Kelly VO: So you have to be the advocate. Your child needs your voice.
Kelly: My biggest advice is to do your best to embrace—embrace what you’ve been given. I know it’s sad. It’s hard, especially newly diagnosed families. But embrace it and get all the information that you can possibly get. Get knowledgeable yourself, understand the medical terminology because it will help you digest and learn to take care of your child.
Kelly VO (continued): To I guess not give up, just, just live life. Don’t let this influence, don’t let this take you down. Figure out a way to make it part of your life. And my husband and I used to say, “This is our life.” This is our life and we just need to go with it and we need to learn how to live with it and deal with it. One of the things that kept me going, and I remember, I don’t know where this thought came from, but…
Kelly (continued): …after Jillian was diagnosed, I was laying in bed one night and you know, you wake up in the middle of the night for, weird reasons when you, I guess everybody does, but when you have a kid that’s really sick, and I came up with this saying and it’s been her saying, from the gate…,
Kelly VO (continued): …it’s “One day I will walk, one day I will talk, today I can smile.”
The Shamrin family’s journey to diagnosis
Hear a family’s journey to get a diagnosis for their daughter.
Viktoria: I’m Viktoria Shamrin, this is Konstantin Shamrin and we live in Lipetsk, in Russia. Our eldest daughter’s name is Daria, she’s 9 years old now and our firstborn. When Daria was born, no one understood her condition.
Viktoria (continued): At 3 months, we started to worry, because she didn’t hold her head up, she laid on her stomach, and almost never lifted her head. She was generally very inactive, and had trouble sleeping.
Viktoria (continued): Then after 5 months, when she hadn’t developed any skills a child should have, well, then we just started going from hospital first it was a hospital in Lipetsk, then several times in Moscow and so it went on. We moved from one hospital to another and there was never any diagnosis. According to all their examinations, everything was okay, her brain was okay, all her internal organs were okay.
Viktoria (continued): When Daria was about 5 months old, we visited a neurologist in a private center. It was probably the third or fourth neurologist we’d seen, and I remember that Daria had just had these attacks, or oculogyric spasms, which [we now know] are a characteristic of AADC deficiency. It put her in a completely different state. I tried to explain to the neurologist that this wasn’t usual and that we’d come next time so they could see what she was normally like, but the neurologist absolutely didn’t want to listen to me. Well, it was like talking to a wall. Then the neurologist just started saying that Daria has a severe form of cerebral palsy, and that she will never walk, you will never excuse me…
Viktoria (continued): No one believed in me, I was the only one who believed in myself, believed that we would succeed in collecting a million rubles, to go to Germany to get a diagnosis. After 2 months of raising money we flew to Germany. The diagnosis was made almost in 3-4 days. When she, when Daria was diagnosed, she was a year and 2 months old.
The Shamrin family’s AADC deficiency story
Watch a family discuss their experience raising their daughter with a rare disease.
Viktoria: I’m Viktoria Shamrin, this is Konstantin Shamrin and we live in Lipetsk, in Russia. We met in 2003, got married in 2006 and Daria was born in 2010. Now we have 3 girls, all girls, the youngest is 4 months old, the middle one is 5, Daria is 9 now.
Viktoria (continued): Before we had Daria we were like most ordinary people. I wouldn’t say we used to treat special needs children badly, but I guess we just never thought about their problems. However, now that we’ve had Daria, we look back at our lives before her and we realize that we were probably focused on the wrong issues, we weren’t appreciative enough.
Viktoria (continued): When they told us the diagnosis, we certainly didn’t understand the most important thing, the severity of the condition. We kind of just thought, well, thank God we now know what’s wrong with her, as if the hard part was over. Removing a huge weight from our shoulders, we knew everything, we didn’t really realize how severe this condition was.
Viktoria (continued): Veronika (Daria’s younger sister) we tried from a young age to explain. Veronika is 5 years old now, and she already understands much more.
Viktoria (continued): There are only 2 families registered in Russia with this disease. So we only have a few people that we can talk to and share our issues with. When we first started talking to other families who live with a child with the same diagnosis, I think our first feeling was we’re not alone, that there’s always someone we can talk to and ask for help.
Viktoria (continued): Daria taught us that in difficult times we should always forgive each other and unite to go together towards the goal and to help each other out and support each other. Of course there are always difficulties, because life moves at a crazy pace now.
Viktoria (continued): We just really love our children and want to give them the best life possible.
Use these helpful resources at your next appointment
Expert videos about AADC deficiency
Keith Hyland, PhD, and Phillip Pearl, MD, discuss AADC deficiency in a series of videos in which they provide an overview of the disorder and discuss signs, symptoms, common misdiagnoses, and other topics based on their experience.
Note: These videos were originally intended for a physician audience, so some of the language is more clinical in nature.Watch videos
PTC Insightful Moments
At PTC, we are deeply committed to a single purpose: extending life’s moments for people with rare diseases and their loved ones. PTC Insightful Moments is a community educational series of programs and materials created to support patients and their families.
Our programs address many different aspects of living with rare disease, including topics of navigating insurance, holistic approach to caregiver wellness, sibling support, advocacy, access to higher education, life skills, and understanding clinical trials.
Please reach out to our Patient Engagement team for more information.
1-833-PTC-VIDA (1-833-782-8432) Spanish
Help the medical and scientific community further understand AADC deficiency and its progression by enrolling in an observational study of children and individuals diagnosed with AADC deficiency.
Talk to your child’s doctor about enrolling or download this information sheet to learn more.
A caregiver’s glimpse into AADC deficiency
An anonymous caregiver’s poem details the experience of discovering that their son has AADC deficiency.
A glimpse into AADC deficiency
Three years ago, this very day,
A baby boy was on his way.
One day you’ll grow, what will you be?
A lawyer, a doctor, perhaps President of this fine country.
Only time will tell, what it is you’ll do so well.
As the nurse hands me my bundle of joy,
She says “here is your healthy baby boy!”
Perfect as the eyes can see,
I can’t believe this baby is part of me.
As the months to proceed, seem to fly,
I noticed something was wrong with his eyes.
They seem to get “stuck” upward you see,
I don’t understand how this came to be.
Eventually, a doctor informed me I have a “floppy” child.
What does this mean? Is it severe or mild?
Please doctor, have another look.
This was not mentioned in the What to Expect book.
This isn’t fair, this isn’t right.
How do you expect me to sleep at night?
At the hospital in a room closed tight,
Is where I celebrated my first Mother’s Day delight.
Countless pricks, pokes, and even an electric shock,
More than any child should bear; I stare at the ones in the smock.
His smile and cheer bring joy to my heart.
Soon he’ll be a year, and he’s getting so smart.
I see children his age, propped on their mother’s hip.
“My son’s supposed to do that too,” I thought, as I quiver my lip.
I know what you’re thinking, friend, as you pass us by.
“I’m glad that’s not me; I would just have to cry.”
Once again I get unsettling news, “Your son, my dear, is failing to thrive.”
“He must gain weight, more daily calories, you should really strive.”
I tried my best, but unfortunately, I did not succeed.
Off to the hospital to insert the feeding tube you now need.
“God, I don’t understand why you entrusted me with such a special child.”
Doctors, therapists, and dentists galore, “God, am I being trialed?”
Finally, after over a whole year, a long-awaited diagnosis we now hold.
“It’s rare and genetically inherited,” this is what we’re told.
“It affects his brain,” I asked “What do you mean?”
“All of this is from a mutated gene?”
“He’s 18 months old now,” the doctor said, “so he should be in the clear.”
“Before this age, the survival rate is low,” this is what I hear.
I watch you son, as you peacefully sleep.
You look like a cherub, as I quietly creep.
I long to hear your voice, and although one day I may.
I see in your eyes, you have so much to say.
This world can be such a cruel place to live.
So don’t listen to those who are naive and have nothing to give.
For no one ever taught them compassion or true love,
And you were made special from Heaven above.
Though I do not wish our days to quickly fade away,
Please listen closely son to the next thing that I say.
Our time here on Earth is only temporary,
So everything else is simply secondary.
Although at times it may feel like forever,
One day you’ll break free for your final endeavor.
And this body in which you were once confined,
Will restrict you no more, you will everlastingly shine.
I pray that one day, there will be a cure.
Most importantly son, I love you forevermore.