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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 paediatrician, 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…

Kelly: Yeah

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.”

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 three girls, all girls, the youngest is 4 months old, the middle one is 5, Daria is 9 now.

Viktoria: Before we had Daria we were like most ordinary people. 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: 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: 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. There are only two 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.

Konstantin: 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. We just really love our children and want to give them the best life possible.

Richard: When Rylae was born, we had planned everything. It was all planned, it was all perfect, the birth was perfect and, you know, we were just very proud parents.She was a healthy baby and there was nothing to say that anything was out of the normal.

Judy: When she was about three months old, I suspected something was wrong with Rylae because she wasn’t making her milestones. Her fist was always closed, she always looked sleepy, she wasn’t eating, she wasn’t doing a lot of the things that a normal child would be doing.

Richard: She was very floppy, and later we learned that that term was called hypotonia, she didn’t have any muscle to hold herself up. So, she could never be on her belly. If something happened where she were to roll over, I was scared that she was going to suffocate, so she always slept in the middle of us, and, technically, I had, like, one eye open on her because I didn’t want something to happen.

Richard: The floppy symptom, it just felt like she was not going to be able to do anything. We had a child I could see, I had a child in her eyes, everything else was telling me that it’s just limp, and it’s scary holding her like that. Another symptom of that was anxiety. So, sensory overload was very easy. She would have anxiety with new faces, but even with turning on the tap water, if the water was a certain temperature, or even at room temperature, I guess, she would just have a fit.

Richard: But, obviously, at the three-month mark when we started to see what we thought were seizures, we became concerned. The symptoms came on gradually. What we now know as OGC started out as, kind of, muscle spasms. But eventually, that became a little bit more concerning in that she was twisting her limbs, her eyes were crossing, and they began to last a little bit longer. I think that was the number one sign for us because for us, all we knew at that time was this looks like a seizure.

Judy: She was making noises like she was in pain. And she’s feeling scared, too, she’s like, ‘Why is my body doing this?’ Like, she’s aware of it.

Richard: I think the hardest thing in this continued was to see that she was in so much pain and there was absolutely nothing we could do. Again, we had planned this pregnancy and we planned being parents. We were ready for it, and we’re excited for all these things that are going to be coming, crawling, belly time, all these things, and they weren’t happening. So, it’s hard to say it, but there was an ego inside of me as a parent where I wanted these things, I wanted these experiences, and honestly, it was heartbreaking not to have these and a little bit frustrating.

Judy: The first time we went to ICU was when Rylae was three months old. We went to the clinic nearby our home, the doctor saw her and she said that we had to admit Rylae to ICU because the OGC was lasting a little bit longer. The first doctor that we saw was a general paediatrician, and then she referred us to a neurologist.

Judy: We met the neurologist, and he diagnosed Rylae having epilepsy. So, he was giving her medication and he said that after taking this medication, Rylae will get better, and told us not to worry, but we took it for about three or four months and we noticed no changes, and Rylae was getting worse and she was sleepy all the time.

Judy: After seeing the neurologist, she referred us to the genetic doctor, but none of these doctors found anything, so we started doing our own research. My brother helped us, and he was telling us about the child who has all the same symptoms as Rylae, and then Richard started looking online, researching on his own to find out what Rylae has and where we need to go next to see which doctor.

Judy: We didn’t see another doctor until we had a hunch that it was AADC deficiency. I mean, hearing from the doctor, he said that they’re going to be bedridden for life and she’s going to need a lot of support, my heart just collapsed. It was hard to accept it at the very beginning.

Richard: When I first found out Rylae had AADC deficiency, I googled the term right way, obviously, ‘no treatment available’, it was a smack in the face. Not only did they say that there was no treatment available, there was no support information. There was nothing that I could take from these articles I was reading about what we could do for our daughter right then and there, no medication, surgical options, there was nothing there that I saw, and it was very disheartening to read that.

Judy: At that point, my concern was, ‘How is she going to survive each day?’, because every day was so challenging for us, feeding, sleeping, going out, you know? We’re always constantly worrying she’s going to choke. So, at that point, I wasn’t even thinking about the future, I was just worried about now and tomorrow, making sure she stays alive.

Richard: I think things changed in that we could feel a little bit more confident in how we handled her. When we saw what we thought were seizures and knew that they were oculogyric crises, I was a little bit less worried. I felt like I could just relax with her, try to comfort her out of that spell-like state.

Richard: So, once we had the diagnosis, we were still full-time caregivers, our whole life revolved around Rylae. Just because we had the name of the disease didn’t mean the symptoms were going away, there was still a lot of work for us, but we just had to adapt our lives, and take the knowledge that we did know about the disease and try to make the best of it.