The Day Everything Changed

Before there was a diagnosis, there were years of knowing something was wrong and not being able to prove it.

In this episode Tanya goes back to the very beginning — to Aiden's birth during COVID, to the NICU, to the years of appointments and therapies and unanswered questions that followed. She talks about the guilt that settled in almost immediately after birth and the weight of carrying it alone. She talks about being dismissed by providers, switching doctors, and what it finally felt like to find someone who actually listened.

She talks about the genetic testing that revealed Aiden's specific PWS subtype — maternal UPD — and what it meant to see the word maternal and feel that familiar guilt come flooding back. She talks about what happened after the diagnosis, including a surgery that went in a direction no one prepared her for and how she found out about it.

And she talks about what she wishes someone had told her — about documentation, food security, the school system, and what it actually looks like to build a life around a child whose hunger never turns off.

This episode is for every parent who has ever sat in a waiting room feeling invisible. Every caregiver who has questioned their own instincts. Every mom or dad who has blamed themselves for something that was never their fault.

You were not overreacting. You were not crazy. You were right.

🔗 Join the PWS Unfiltered Community on Facebook: https://www.facebook.com/groups/pwsunfiltered

PWS Unfiltered releases new episodes on the 1st and 15th of each month.

This podcast shares personal experiences and is not medical advice. Always consult your care team for clinical decisions.

Transcript

SPEAKER_00 0:00

I didn't find out Aiden had stopped breathing during surgery from his doctor. I found out because I overheard a nurse on the phone while sitting there in the recovering room, waiting for him to open his eyes. They had to manually breathe for him. And nobody said a thing. Welcome to PWS Unfiltered, a podcast where every family story is valid, every experience is welcome, and no one has to navigate Proder Willie syndrome alone. I'm your host, Tanya, and I built this space because I know how isolating this journey can be. So pull up a seat. You belong here. Okay, so last episode I introduced myself, who I am as a person, as a mom, and as someone who has been in the thick of this journey with Aiden. Today we're gonna go deeper, back to when Aiden was born, before we even had a name for what we were navigating, and to the years of appointments and unanswered questions. This episode is for every parent who has ever sat in a waiting room feeling invisible, to every caregiver who has questioned their own instincts, and for every mom and dad who has blamed themselves for something that was never their fault. I'm going to get into some things today that I haven't talked about before. It might get heavy, but that's okay, because that's what we're here for. Let's dive in. I want to take you back to the very beginning. When Aidan was first born, I felt numb. I couldn't tell if it was the exhaustion or the fact that we were in the middle of COVID, but I think a big part of it was that my body had just been through something really hard. I'd been sick my entire pregnancy with hyperemesis graviderum, which is just severe nausea and vomiting that doesn't let up. Even during the pregnancy, Aidan wasn't growing the way he should have been, and they wanted to induce me the following Monday. I ended up going into labor on my own, and then almost immediately after giving birth things started being named. Things Aidan was struggling with, like losing weight, not feeding properly, staying awake or regulating his body temperature. They decided he needed to be taken to the NICU. Aiden's NICU stay was only a day and a half, and I want to be clear about that because I know some families spend weeks and even months in that place, and I'm not comparing our experience to theirs. After the day and a half we were told we could take Aiden home. Honestly, I didn't fully understand what we were walking into. All that was known was that Aiden needed appointments with primary care, urology, and that we needed to watch a few things. But I didn't really sit with what was actually happening. I didn't know the long road that was ahead, and I was just happy that Aiden could go home. The first week home he slept more than felt normal for a newborn, and he didn't really wake up to feed much. Those concerns were brought up to his primary, which is when things started getting complicated in a different way. They wanted labs after labs after labs. There's still some trauma from that because they couldn't find a vein and kept trying to repoke him. To this day, at every single appointment where they need to draw blood, I tell them his veins are hard to find. I believe I will always tell them that, because I will continue advocating for him every single time. After a few visits, I decided it was time to switch primaries, which is where I found the doctor who actually started trying to figure things out with us. She sent us to the hospital for labs to make sure they had the right equipment. She ordered imaging, sent us to neurology, and ordered genetic testing, but not the specific test for PWS. For the first time I felt like a doctor was actually in it with us. But even with all of that, we still had no answers. PWS would have explained everything. Every single thing. And I think about that a lot. How many people were in his life in those early months who could have caught it and didn't. Honestly, I don't blame the individual providers who helped us and had just never encountered PWS before. I really don't. I blame the lack of awareness. I blame the lack of advocacy for this syndrome. Because if more people knew what to look for, we could have prevented so much. Nobody handed us a map, and nobody had one to give. As Aiden started growing, the missing milestones started becoming impossible to ignore, like not being able to hold his head up, still not feeding properly, and not crawling. All of it was a concern. His primary mark that he had a global developmental delay, but nothing beyond that. It felt like a rain cloud hovering over us with people saying maybe he would grow out of it. Some kids just take longer. Give it time. And the frustrating part is that at the time it was easier to navigate in some ways, because he was younger and the stakes felt slightly different. But as he got older, as the gap between him and other kids his age became more visible, that's when the sadness really started to set in. That's when it got heavier. And through all of it there was so much to juggle. Working full time, having multiple appointments a week, taking whatever appointment slots they had available, or waiting months to be seen. I felt like there was no moment to just breathe. It was constant. The hardest part of all those years without answers wasn't the appointments, the therapies or the wait times. It was the questioning. Questioning my parenting, questioning my instincts, questioning my own reality. It made me feel crazy. And that uncertainty, it takes something from you that you have to fight to get back. I walked away from appointments feeling like maybe I needed to give it time. I thought maybe I was overreacting and didn't know what I was talking about. That feeling of being dismissed when you know in your gut something is wrong is one of the hardest things a caregiver can experience. As I mentioned in episode one, within a month and a half, Aiden gained a significant amount of weight. And that weight gain is what finally got us a follow-up with endocrinology. The endocrinologist is the one who looked at him and said it's either Protter Willie syndrome or Angelman syndrome. And that changed everything. I went home that night and I didn't sleep. I researched both until I couldn't even keep my eyes open, and somewhere in the middle of all of it I stopped second guessing myself. Because everything I was reading about PWS was everything I had been living for years. Every single thing. The feeding difficulties, the low muscle tone, the developmental delays, the weight gain, it was all there. In my heart I already knew the answer before the call came. When it did, when genetics confirmed it was PWS, I didn't fall apart. Not right away. There was this moment of stillness first, like my whole body exhaled. We had been chasing something nameless for years and now it had a name. And then the weight of what that name meant started to settle in, and that's where the next part of the journey begins. After speaking with the genetic doctor, he shared that there are three main genetic causes of PWS. We ended up doing more labs to determine which one Aiden has. When the genetic results came back, Aiden's type was maternal UPD, which means uniparental disami. Instead of inheriting one chromosome 15 from each parent, he inherited both from me. And when I saw the word maternal, I went into overdrive, because of course I did. Of course my brain went straight to it's me, it's because of me. I would cry and ask myself what I did wrong. How did I fail him? Maybe if I wasn't so sick during my pregnancy I could have given him more. But as I kept researching and really started understanding the genetics, I got to a place where I understood. There was nothing I could have changed. Nothing I did differently would have changed the outcome. It was not something I caused, nor was there something I could have prevented. My partner Sarah, who is also the producer of this podcast, was a big part of helping me get there, not rushing me, trying to fix it, and just giving me the space to work through it at my own pace. I was still showing up, still doing every appointment, working full time and giving my kids time and attention. But my processing time happened at night when the kids were asleep. Sir and I would talk through things. I would fall apart, and then in the morning I would wake up to continue forward. Now that I look back, I don't think I would tell myself to feel it differently. I think I had to feel it in order to filter through it and get back up. The guilt wasn't the problem. Staying in it forever would have been, and I didn't. I kept going. For anyone at the stage right now, just try to remember it was not your fault. It was never your fault. As I was researching, one of the first things I found was PWSA, the Proter Willie Syndrome Association, and I remember getting onto that website and for some reason I started gaggling, but not a laugh because anything was funny. It was because for the first time I felt validated. Everything I had been seeing in Aiden, everything I had been told might be nothing, everything I had questioned myself about, it was right there. Named, documented, real. Even though PWS looks different in everyone, having a place that laid out the medical realities, the things to watch for, the resources available. It was the first time I didn't feel completely alone in what we were navigating. If you haven't found PWSA yet, that is your first stop. We also had to tell the other kids, and I want to tell you how we did this because I'm kind of proud of it. We made a presentation. We actually sat down and created something that broke it down in a way that they could understand at their ages. What PWS is, what it means for Aiden, what it means for our family. It was really sweet, honestly. It gave them a chance to ask questions. It gave them something concrete to hold on to instead of just telling them their brother had something wrong with him. And it helped. It genuinely helped. I thought having a diagnosis would make the process easier, and maybe in some ways it did, but what I was not prepared for when nobody told me was that even with a name, even with documentation and walking into appointments with the diagnosis on paper, there would still be providers who didn't know what PWS was, who would look at me like I was exaggerating. The one that has stayed with me the most is the surgery Ada needed. The specialist wanted to do it outpatient, and I had serious concerns because in his last surgery he needed respiratory support, and I was not comfortable sending him into an outpatient facility without that level of care available. I refused. I pushed back. I refused to leave without him being admitted for observation. They did the surgery, and afterward I overheard a nurse on the phone. She was calling the pediatric unit to request a bed, and that is how I found out Aiden had needed emergency respiratory intervention during surgery. They didn't tell us. I don't say that to scare anyone. I say it because this is exactly why you advocate. This is exactly why you push back when something doesn't feel right. This is exactly why your instincts matter. Because you know your child and the stakes are real. Never let anyone make you feel like you're being difficult for asking questions or wanting more. You are being a parent. If I could go back to the version of me sitting in that genetics office or even sitting at home reading about PWS for the first time at midnight, here is what I would tell her. I would tell her to make a script, literally, a written summary of what PWS is, what it affects, what to watch for, what the struggles are, how careful we have to be, and bring it to every single appointment. Because you will spend so much energy re-explaining yourself to providers who have never heard of this syndrome, and you deserve to walk in prepared, not exhausted before the appointment even starts. I would tell her to get everything in writing, everything. If you want something for your child at school, request it in writing. If a provider agrees to something, get it in writing. I know it feels tedious, I know it can feel like you're being difficult or redundant, you are not. Written documentation is the difference between something happening and something not happening, especially in IEP meetings, especially in a school system that is already stretched then. If it's not in writing, it doesn't exist. I would tell her about food security, and I wish someone had told me sooner, because I didn't fully understand what we were walking into. I didn't know how quickly he could gain weight. I didn't know that his body couldn't metabolize calories the way ours do. And as he got older, the food seeking got more intense. We had to change the whole house. Nothing within reach, nothing visible, because he will find it. He will find it and he will eat it. And it's not defiance, it's the condition. It's hunger that doesn't turn off. We also had to figure out a way to handle this in a way that was fair to his siblings. They shouldn't be punished for having a brother with PWS. They should still get to eat the things they like. We came up with a plan that protected Aiden without taking something away from them. And we made sure they understood not to eat things in front of him, how to keep him safe, and what their role was in all of this. Because when you have a child with PWS, the whole family navigates it. The siblings navigate it. And they deserve to be included in that in an age appropriate way. I would tell her that being dismissed doesn't mean you are wrong. It means they don't know enough yet. Keep going anyway. I would tell her that you are not crazy, you have never been crazy. Every instinct you had about your child was right. Every time you push back, switch providers, and refuse to just let it play out, that was you being exactly the advocate your child needed. And if you are that parent who is where I was the night before the call, sitting with uncertainty, exhausted, scared, not knowing what the answer is, but knowing something is wrong, I want you to hear me. Don't give up. You are not crazy, you are not on your own, and whatever the answer turns out to be, you will get back up. I know you will, because I did, and I was right where you are. That is why PWS Unfiltered exists. To validate your experience, to make sure you know you are not alone in this, no matter what. And if any of this brought something up for you, if you're sitting with something right now that you've never said out loud, that's exactly what this community is for. A space where you can show up, share, and just be understood. The link is in the show notes. Thank you for being here for this one. I know it was a lot. It was a lot to live, and it's a lot to say out loud. But even if one person listening today feels less alone in their story, it's worth every word. Next episode, we're going to talk about what PWS actually is: breaking it down, clearing up the misconceptions, and having the honest conversation about why black and white thinking in this community silences families who need support the most. If this resonated with you, share it with a family who needs it. And if you have a story you want to tell, this community is ready to hear it. Until next time, you are not alone.