From the moment I was born, we knew that something was different. >> We were seeing many doctors. It was kind of everyone just trying to figure out what could be the possibility. >> Potter Willy syndrome is a genetic condition that involves missing part of dad's chromosome 15. The behavior issues include an extreme preoccupation with food. It's harder and harder to keep her satisfied with her meals. One thing that I hope people learn from Ion's story is that you are not alone. It's okay to talk about it and it's okay to be vulnerable. >> So, I is this your favorite thing to do on the playground? Anju and I have been married for 21 years now. We are college sweethearts. We have two daughters, Nila, who is 11 years old, and I who just turned 9 years old. >> Ioni is amazing. She is kind of the light of our family in the sense that she's one of the happiest people I know. She really makes us all laugh. Uh she is unbelievably strong uh strong willed, strong in her body. She is really the glue that kind of holds us all together in many ways. >> From the moment I was born, we knew that something was different. She had a lot of trouble feeding. And because I'd had another child, I knew what that was supposed to be like. um what a typical child would do to breastfeed. And she was completely unable to do that. She also had very low tone in her body. They call it like floppy baby syndrome. And she would sleep all the time. It sounds like everyone's dream, but it was really scary because we didn't know what was going on. My name is Deanie and my daughter Ioni has Prader Willie syndrome. Productility syndrome is a genetic condition that is involves missing part of dad's chromosome 15. So it happens prenatally and it can be either from part of dad's chromosome 15 being missing or it can be from having two of mom's chromosome 15 and none of dad's. It's a random genetic event. It's nothing that anyone does to cause it and it does not run in families in general. Protoilly syndrome is diagnosed often because of infants being low tone um and not wanting to eat. They actually will tongue the bottle out of their mouth when somebody comes towards them to try to feed them. They have to be fed with feeding tubes in order to keep them alive. >> The first 5 years of Ion's life were so difficult not having a diagnosis. We were seeing many doctors, not just her pediatrician, but it was a neurologist, it was speech therapists, it was endocrinologists, it was everyone just trying to figure out what could be the possibility. >> Co brought us to the DC area and we started seeing a new medical team. We saw an amazing neurologist there who said, "Have you ever heard of something called Prader Willie syndrome?" It is very uncommon to have such a late diagnosis in today's world. In general, clinicians are trained to recognize Perwilly syndrome as fair skin, blonde hair, blue eyes. That's because they delete a pigment gene as part of the deletion type of protoilly syndrome. But if the individual is of a different skin color or nationality, they will not demonstrate those features necessarily in infancy. And so if doctors are not aware, they may miss it in other individuals. I think everyone in the rare disease community has a D-Day, their diagnosis day where they found out the diagnosis and it's always a traumatic one. I feel like ours was truly traumatic. I was in the car and the neurologist called me with the methylation test results. She told me that your daughter has Potterwilly syndrome and I was shocked. I just thought this isn't my daughter. I thought maybe you're wrong. But the more she talked, the more I knew that those were exactly the symptoms I only had been facing. And the only thing worse than receiving terrible news yourself is to deliver terrible news to somebody that you love. And I took Hanji aside and I told him the news and we both just kind of sat there in shock in the car thinking, "How can this be our lives? The behavior issues that are related to hyperphasia include an extreme preoccupation with food. As kids get older and get more hungry, they actually can become more aggressive about food. So, they can become physically aggressive to get to food. They um they often will go after their parents. If the parents try to restrict access to food, they'll go after caregivers who are denying access to food. It can be a really dangerous situation for everyone involved. We're also seeing it's harder and harder to keep her um satisfied with her meals. She is complaining that she wants more food and she is stealing it when she needs to. People told us what would be coming along this path and so Dr. Miller especially recommended that we put locks on our cabinets and put away the food. Then the final phase of hyperphasia is the truly terrifying one. They live in constant hunger. So we'll feed Iony a full dinner and then she'll tell me, "Mama, it feels like my stomach is totally empty. I feel like I haven't eaten anything." I've heard some children describe it as they've been walking in the desert for 3 days hungry. These individuals have learning differences because if they're thinking about food all the time, you cannot be thinking about what the teacher is saying and focusing on an assignment. >> Fortunately, a drug was just FDA approved for treatment of hyperphasia in individuals with protoilly syndrome. Aon is a spectacular kid. She could write her name at 5 years old, which a lot of kids could not with syndrome because of low muscle tone. She colored me a picture. She was very well spoken and she's just an amazing child. >> When you have a medically complex child, it's not just one thing. People like to think about, oh, the hunger, that's PD Willie syndrome, but it's really a big game of whack-a-ole because there are so many areas and it feels like once we get one area under control, there's something else that pops up and there's something else and there's something else. So, we're always taking her to different medical specialists, different behavioral specialists. She also does speech therapy. She does occupational therapy. She does physical therapy. She does hypotherapy or horse therapy. She also does vision therapy. We're always trying to get her enrolled in things that are going to help her build those muscles and build her endurance. Let's taste it again for salt and see any more adjustment. One of the things that makes me the saddest when I think about Willie syndrome and Ioni struggle. good chasel is how it affects her sister and the whole family because Mila didn't ask to have a sibling with Pder Willy syndrome. She didn't ask to have all of the food locked up in the house. And you know, we used to go out for ice cream as a family or order dessert at a restaurant or cook pizza, you know, make pizza dough or fresh pasta at home. We try to work really hard to make sure we have systems in place and a lot of extra attention on Nila so that she doesn't suffer so she can live a full life too. >> Thank you girls for helping with the dinner. >> Yeah. >> And it can also be a strain on the marriage. So we were really determined to work on ourselves and work on our marriage too. >> I think there is a large importance that we put on self-care. So, if it's just Deanie and I going to have dinner one night or when the kids are in camp, like we'll just go and grab lunch and or do an errand together. I think there's something about that that really just helps us realize that, you know, we're not alone in this. >> Picked up. >> Often when people are diagnosed with product syndrome and they look on the internet for this diagnosis, all you see is blonde hair, blue-eyed kids. They don't see other families of color with this diagnosis necessarily being represented on the internet and even in clinic not necessarily. We got together and we formed an affinity group for people of color. We call it the black, indigenous, and people of color group. And we also refer to ourselves now as the colors of hope. And it's really our mission so that every person living with Potter Willie syndrome, regardless of their skin color, regardless of what resources they have, they can all have the benefits of the research and the medical advances that are coming so they can all live better lives. Parents often say I provide them with a lot of hope. And I do that because there is a lot of hope. It's a real hope. The real hope of their child being independent. The real hope of their child finding a career that makes them happy. The real hope of their child potentially getting married in the future if they desire to do so. >> Yeah. >> One of the things that I always tell new families is that I really want them to delay providing environmental restrictions for food as long as possible because for anybody to go out then and be even semi-independent, they have to have an understanding of why their food has to be restricted. And if you provide environmental restrictions, they're never going to learn it. >> Begin your adventure. >> They're going to school dances. They're going to sleepovers. They're starting to drive. They're getting into college and being able to go to college away from their parents. They're holding careers in fields that I think they probably couldn't have held careers in before. They're working at auto dealerships. They're working at grocery stores. They're able to do things that just anybody else would do. >> It's real and it's amazing that this syndrome has changed so much in the past 26 years of my career. And it's really been fun to watch and see. >> If you know someone that has product syndrome or if you know a family or something, just know that they're trying to do their best. And the more that you can support or try to help support the family and the individual I think the better. >> One thing that I hope people learn from Ioni's story is that you are not alone. It's okay to talk about it and it's okay to be vulnerable. >> I really believe that the path to healing is through deep vulnerability and honesty. And it took a while for me to get there. A lot of times in my culture, people like to whisper about different medical ailments. They don't say them out loud because they're scared of what that means. And I was really determined with Ioni that we would say those things out loud. >> I'm going both of you. >> And the sky's is the limit for her. She wants to be an engineer. She wants to be a nurse. She wants to take care of animals. And we really believe that all that is possible. We'll never give up hope for her. >> Maybe I shouldn't have cut my hair short after all. My face.