An Advocate’s Journey through Diagnosis, Loss, and Hope
July 30, 2021
Ashley Walker spent the first 20 years of her life misdiagnosed as having a form of muscular dystrophy. It was only after her twin sons Alexander and Jayden suffered severe respiratory complications following their birth that she and her boys were all diagnosed with X-linked myotubular myopathy, a rare neuromuscular disease. Though the condition predominantly affects males, female carriers like Walker can also experience symptoms that can range from mild to debilitating, and even life-threatening. Her sons died eight years ago, a little more than a year after being born. Today, Walker is unable to work and requires breathing assistance at night, but she has become a patient advocate, and works to raise awareness about the disease known as XLMTM and the need for treatments. We spoke to Walker her own rare disease journey ahead of an externally-led XLMTM Patient-Focused Drug Development meeting, what life with XLMTM is like, and her hopes that new treatments are not far away.
Daniel Levine: Ashley, thanks for joining us.
Ashley Walker: Hi, thank you for having me.
Daniel Levine: We’re going to talk about your journey as someone with a rare disease, what it was like living with an undiagnosed condition for so many years, and how you and your twin sons were ultimately diagnosed after you gave birth to them with the rare neuromuscular condition known as X-linked myotubular myopathy. As a child, your parents were told how good you were, as it turns out in an odd way this was recognition of a medical condition you had. Can you explain what happened?
Ashley Walker: Yes. One of the first memories I have was being in kindergarten and sitting on a colorful number letter rug and dragging a chair closer to me so that I could stand up with assistance. After that my parents were told that I needed to go through testing at a hospital. So, I remember staying at a hospital for a few days and going through a number of tests, like I even remember going into surgery to have a muscle biopsy, and everything came back normal. Then one of the doctors, a neuromuscular doctor, said, I have a form of muscular dystrophy called limb-girdle and the best thing to do was to keep me active, moving, and to keep my weight down and live a normal life. When I got to high school age, I just gave up on doctors because everything was so repetitive, with the testing and the muscular dystrophy clinic wanting to give me a cane or a walker and I didn’t want any of that stuff because I wanted to be a normal girl.
In high school I was able to have a job. I’m really into clothes and make-up and other girl things. My first job was at a store called Papaya. It was a regular girls clothing store and I loved it. I loved dressing people up, I loved the cash register, and I loved being around my friends. I remember when we would go to Mexico for the weekend like normal people. I met my husband when I was 20 and right away we started talking about getting married and having a family. He was a Marine at this time, so I knew we would eventually have to move.
Before we decided to have a baby, I wanted to sit down with the geneticists because I knew I had muscular dystrophy, limb-girdle, and I’m wanting to know how it could possibly affect a baby. The geneticist said that if the baby came out with muscular dystrophy, it would be like me. I’m functioning. I need some assistance sometimes, but for the most part, I’m independent. I felt at that time that if our child has muscular dystrophy we’ll deal with it, the same way my parents dealt with it. We moved to Hawaii and the boys were not supposed to be born until August, and in early May my water broke and I went into labor. When I’m at the hospital they’re completely reassuring us that everything is fine. This is normal with twins. They’re just premature and everything will be fine. They’re born and I am waiting to hear that first cry, like you have this imagination of what it’s going to be like, and I’m thinking one of them is going to cry or something’s going to happen. No cry, no noise, and they’re rushed and the NICU right away. I’m freaking out, but they’re trying to reassure us that everything’s fine. One of the protocols at the hospital was that you needed to be able to walk to go to the NICU. At the time, I told them I have muscular dystrophy and maybe it’s taking longer to recover but I could not walk or stand up. So, I demanded a wheelchair so that I could go see my boys in the NICU. They get me my wheelchair and I went down there and they’re completely hooked up to oxygen, they already gave them a G-tube for feeding and they were just so lifeless. I felt like you could see in their eyes that they were there, but their bodies were just not responding. The doctors tell us, as it gets closer to your gestation in August, they’ll get better and stronger and it’ll be fine.
Months go by, we’re visiting our children in the NICU, my husband is working as a Marine in Hawaii, and nothing is progressing. They’re getting bigger, but they’re not needing less oxygen and they’re still not swallowing. It was scary. I wanted to get them to California because I felt like we would have more help. During this process of getting them to California, my geneticist said we need to do a test. It was a brand new test back then in 2012 that tests every gene in my body because we knew I had muscular dystrophy and we needed to see what the boys had. Well, it took about nine months. We were in California. We got the boys to a hospital and then eventually to a home. I was trying to get nursing hours to get them home and even through the military through private nursing, it was impossible for us to have our boys home because they needed 24-hour care. They couldn’t be unattended for a night or even a couple hours or even minutes. There were moments where something happened and I watched one of them turn gray and they needed to bring him back to life. So, I knew in my mind, I could not have them home unless there was 24-hour care. For whatever reason we were not able to get that. I don’t know if we didn’t qualify or because I needed assistance. We looked into private nursing and that was financially impossible for us. The next thing was a home for the boys and it was called the Bernardy Center, in San Diego, and this was their home. We were waiting on a diagnosis and finally the geneticist called us from Hawaii and asked if we can sit down with a geneticist in San Diego because the results were a little confusing. I was like, no, I don’t have time to make an appointment, I need my results now over the phone. My husband was driving and we pulled over. My husband pulled his phone out on Google because we’re waiting for this answer. They say it’s called, X-linked myotubular myopathy. I’m looking at my husband, like Google what’s going on. He hands me his phone and I’m reading and all I could feel at that moment was that it felt like a cancer diagnosis and that there is nothing we can do. So much in that moment made sense to me. But, as it was for my boys, they were so severe and needing so much help. At that moment, we focused on making memories in this home as a family, visiting them as often as we could and being with them. Again, for this diagnosis there was no pharmacy we could go to try something. There was just nothing. This center wanted to get them more involved with the program and being around other kids, and in my mind, I needed to keep them in a bubble because this diagnosis said even if they get sick, they can possibly not recover. I felt like I just needed to create this bubble.
Daniel Levine: Listeners not familiar with X-linked myotubular myopathy. What is it? How does it manifest itself and progress?
Ashley Walker: So, X-linked myotubular myopathy is a rare genetic neuromuscular disorder and it’s mostly severe muscle weakness. Because it’s X-linked, it’s primarily only in boys. I know that’s why I went misdiagnosed because I’m a girl. Why would a girl have an X-linked disorder? It was nearly impossible. With the boys, having this rare genetic severe muscle weakness is what we were working with. Most of the symptoms are present at birth, but sometimes they develop later in infancy or it can develop in early childhood. It’s so different for every person that has this disease and especially for women.
Daniel Levine: When doctors gave you the diagnosis, what did they tell you?
Ashley Walker: They told me that I needed to keep my strength as much as I could. That meant continuing to exercise as much as I could and keeping myself healthy, like not getting a cold or flu, and doing the best I can and be healthy. When I had my boys, I was not focused on myself at all, it was all about them. I read something that said most boys will not live past two years old. So, in my mind, I thought if I have them for 2 years, I am going to have all the pictures, I want to have Christmas and Easter and all the memories. Once they turned one, they were in this system where I could not control who they were around because I was not able to be there 24 hours a day. So, they would take them into this really pretty room with bubbles, lights, and other kids that were in wheelchairs and they could see each other. It was great, but it was also so scary because I was so afraid of them possibly getting sick. That’s exactly what happened. Right after they went into that bubbly light room, I remember days later Jaden got a cold. I always had them interact with each other in the same crib. They would touch each other and they would play. I believe that’s how the cold started. Once they got a cold and passed it to each other, the cold went into the flu, then that turned into pneumonia. Once it got to pneumonia there was no recovery. They were so ill and they weren’t responding to antibiotics. They needed to be transferred back to the military hospital in the ICU for insurance purposes. That’s when the doctors told us that they’re not getting better and this is it. That’s when I felt like this is my rock bottom. This is it even from me, like, I didn’t know how I would move on. On that day when it happened, I think that’s why I have such a strong faith now, God took them within hours of each other. I don’t even have words on how it happened, but it did. On that day, I told myself that I was going to lose weight and just be this motivated person.
I fell into addiction with alcohol and I almost killed myself. I gave myself pancreatitis and they had to remove my gallbladder. As I was laying there on the table, I’m saying to myself, okay, you were born with X-linked myotubular myopathy, but you gave yourself pancreatitis. You are having someone remove an organ because you just can’t take care of yourself. Like what is wrong? From that point on, I became sober and I never touched alcohol again. I just had this drive to get better. I knew there was research happening, but I didn’t know the depth of it.
That’s when I reached out online, and I found the MTM-CNM family connection. It’s basically Erin Ward and Marie Wood who both have sons, older sons. I looked at them like, this is my home and this is my new family. This is how we’re going to fight this, with all of us. When I realized that there were more people out there, more boys, more girls, more women, I just got this drive in me to fix it. I felt like, I am going to cure this, I am going to find something, we’re going to get through this, and I’m going to get stronger. When I met the MTM-CNM family connection, Erin and Marie, and they introduced me to so many more adult women, everything started to make sense.
When you were having conversations that went, oh wow, I have difficulty lifting my left arm up too. For me, because I’m a girl and it’s an X-linked disorder, it affects me straight down the middle. My right side is strong, and my left side is weak. I can’t walk more than 12 minutes without feeling like I’m going to fall to the floor. I can’t do my hair the way I used to. I feel so lucky to be in the family that I’m in. They have all completely rearranged their lives. I’m so terrified to be alone because when I fall, I’m stuck like a bug, unless someone can physically pick me up. Simple little things I can no longer do by myself. I knew 15 years ago when I fell, I could crawl, and I could get myself up on the couch and then get up off the couch. Things that used to be difficult are now impossible. That’s why these clinical trials are so important to me. Even if it kills me, I feel like I can’t keep living the way I am, my weakness, my limitations, my health. Even if I had a little bit more strength, I just want to be me. There are so many times I’m watching a basketball game or a football game, and I want to jump up, scream, and celebrate and I literally cannot. I know I could use devices but in my mind I feel like I’m giving in to this disease. That’s why when I heard about clinical trials happening, I was trying to go to Europe a couple of months ago. The fact that there is something that someone is trying makes me feel like, let me try.
Daniel Levine: It’s been almost 10 years since your sons were born. Is the prognosis for someone born with this condition any different today?
Ashley Walker: No, it’s not, and that’s what’s really sad. Every year that goes by so many more people diagnosed die from this because of complications. When I get a common cold, I immediately go into the ICU because there are machines there that I don’t have here at home that are literally life-saving devices. Even simple falls, I fell a few months ago and hit my head and thank God I didn’t knock myself out. There are complications with this disease that can kill me, or one of them, and that’s why this clinical trial is so important to me.
Daniel Levine: There’s a patient-focused drug development meeting with the centronuclear and myotubular myopathy patient communities scheduled for August 3rd. For listeners not familiar with these meetings, can you explain what it is?
Ashley Walker: Yes. The FDA has given our MTM community five hours to give some light on what we deal with day to day. Because what the Ward family in Massachusetts deals with is so different from me in California. We are going to share our stories. Specifically, what we go through day to day and give them light into our lives because so many things are affected.
Daniel Levine: Ashley Walker, X-L MTM patient advocate. Ashley, thanks so much for your time today.
Ashley Walker: Thank you so much.
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