#163 Rachel Pastiloff & Krystle Davis On Prader-Willi Syndrome
On this episode we are joined by 2 guests, Rachel Pastiloff and Krystle Davis, who share their insight on Prader-Willi Syndrome.
Rachel Pastiloff is a mom of 2, who lives in southern California. She’s active on Instagram, teaching hard, cold facts of living with a child with a rare disease and she is passionate about advocating for her 15 year old son, Blaise, with Prader-Willi Syndrome and the entire family’s wellbeing.
Krystle Davis is the senior manager of clinical operations at Harmony Biosciences where she oversees the execution of clinical operations of a phase 2 clinical trial in Prader-Willi syndrome. Krystle has over 12 years of combined experience working in the biotechnology, pharmaceutical, and clinical research industries and she enjoys working in clinical research, knowing her work may make a difference in someone’s life. She completed her Bachelor of Science in Biology at Meredith College and a Master of Science focused in Clinical Research at Campbell University.
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On This Episode We Discuss:
Genetic causes of Prader-Willi Syndrome (PWS)
Challenges faced by caregivers of patients with PWS
PWS symptom management
Harmony Bioscience’s phase 2 clinical study in PWS
Requirements for study participation
Check out some commonly asked questions and additional caregiver perspectives on Prader-Willi, and follow Rachel on Instagram to stay up to date on her journey. Refer your patients to Knowrare to join the study.
You can also check out this new study from a research team led including a DNA Today listener, Dr. Albert I. Chen! The team has identified an entirely new way the brain signals fullness after eating. The findings offer a novel target for therapies that could dramatically curb overeating, including for people with Prader-Willi Syndrome. Here is the publication in Nature, an article in Penn, and an article by the NIH.
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Stay tuned for the next new episode of DNA Today on December 3rd where we will be interviewing two experts from the Parkinson’s Foundation on diversity in Parkinson’s research! New episodes are released on the first and third Friday of the month (with some bonus episodes). In the meantime, you can binge over 160 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes in 2021 are also recorded with video which you can watch on our YouTube channel.
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Krystle Davis Interview Transcript
Kira: Harmony Biosciences is dedicated to developing and commercializing therapies for people living with rare neurological diseases who have unmet needs.
Harmony is currently conducting a phase 2 clinical study evaluating the safety and efficacy of pitolisant in people with Prader-Willi syndrome.
What should people know about the study?
Krystle: The purpose of this research study is to learn about the safety and effectiveness of pitolisant, an investigational medication being studied for treating some of the symptoms of Prader-Willi syndrome, such as excessive daytime sleepiness.
Approximately 60 participants will be enrolled in the study at about 15 different study clinics in the United States.
This is a study with two parts. The first part is a double-blind period, meaning that the participant, study doctor, nor caregiver will know if the participant is taking pitolisant or placebo as the study drug. If a participant agrees to be in this study and it is determined they can be in this study, they will be randomly assigned (like flipping a coin) to the investigational medication, pitolisant, or placebo.
The second part is a long-term safety extension.. During the long-term safety extension of the study, every participant will receive pitolisant at a dose appropriate for their age, and the participant, caregiver, and study doctor will know the dose. The long-term safety extension will help the study doctor continue to collect important safety information.
Kira: What is required from the participants to participate during the clinical study?
Krystle: Participation in the double-blind period requires 5 scheduled visits over the course of about 4 months total.
Participation in the long-term safety extension requires visits about every 3 months for the first year and every 6 months after that.
The study requires that participants agree to go to each study visit and have all study procedures performed, as well as take their assigned study drug, tell the study doctor if there are changes in other medications and tell the study doctor about any changes in their health.
Kira: What should the Caregiver know about the visits?
Krystle: The caregiver needs to be someone who is close with the participant, and reliable such as a parent, or family member, or another responsible adult that knows the participant.
Ideally, the caregiver is the same person throughout the study.
The caregiver’s support and participation in the study is important.
The caregiver will go with the participant every time they go to the study clinic and the caregiver will provide important information about the participant’s symptoms and how well they are functioning. The caregiver’s input will help to obtain as much information as possible about the participant and how the participant is doing relative to the symptoms being assessed in the study (e.g. sleepiness, behavior).
Kira: Where is the study being conducted? How many locations are there?
Krystle: There are currently 15 study sites spread over the United States in the following locations:
· San Diego, CA
· San Ramon, CA
· Santa Monica, CA
· Aurora, CO
· Wilmington, DE
· Gainesville, FL
· Chicago, IL
· Baltimore, MD
· Cincinnati, OH
· Nashville, TN
· Houston, TX
· San Antonio, TX
· Salt Lake City, UT
· Omaha, NE
· NYC, NY
Travel expenses for the study visits are paid for by Harmony Biosciences.
Kira: How long will the study last?
Krystle: Participants will be asked to be in the first part of this study, the double-blind period, for up to about 4 months.
If they continue to be eligible, they can choose to be in the second part of the study, which is the long-term safety extension, that could last more than one year.
Kira: How can an interested potential participant learn more?
Krystle: An interested potential participant or caregiver can contact the study site coordinator or study doctor directly – emails and phone numbers for study contacts are all listed in the study posting on www.clinicaltrials.gov.
Alternatively, they could contact the Harmony clinical team at clinicaltrials@harmonybiosciences.com, and we can connect them directly with their preferred study location and study team to find out if they are eligible to participate in the study.
Potential participants must be between the ages of 6 and 65 years old and have a caregiver that agrees to participate in the study and go to each of the study visits with them.
Kira: How can people find more information? (Healthcare provider, family members, etc.?)
Krystle: In order to learn more about this clinical study, please email our team at clinicaltrials@harmonybiosciences.com or visit the website.
Rachel Pastiloff’s Interview Transcript
Please note this is automatically generated and may not be 100% accurate.
Thank you so much, Rachel, for coming on the show. I'm really excited just to hear your perspective on Prader Willi syndrome and taking time out of your life to come on the show. I appreciate it. No worries, no worries. So I thought we could start out with just kind of your general experience with prayer to Willie syndrome and introducing the audience to your son Blaise, and just telling us a little bit about him. So my general experience with Prader Willi syndrome, and by the way, people say both ways, “Prater” and “Prada”. I'm very upfront and honest. It's been a very difficult road. It is a very difficult road. It is a very difficult diagnosis, but it also is a very beautiful diagnosis. And there are a lot of challenges because it is one of those experiences where you have a child that not only has a cognitive disability, but they also have a physical disability, but they also have a life threatening component to it. So it is very much all encompassing and can be overwhelming. The beauty is that with this particular condition, PWS is a spectrum. So like many of us, we experience varying degrees of all the different aspects of it and in different areas and points in their life. Things sometimes come, sometimes go. So sometimes you'll experience a time that's very, very difficult. And sometimes you'll experience a time that's really beautiful. My son Blaise will be 15 in January, and we have actually been having a really great time together lately. The pandemic has been very hard for a lot of these kids, but coming out of it, he's become a teenager. It's a really fun time, still challenging, but a really fun time. That being said, when you are a Prader Willi parent, you are a vigilant, supreme human. So it's been a challenge. It's definitely been a challenge. And when did Prader Willi syndrome first come on your radar? When did you notice something was a little bit different with Blaise that started that diagnostic, obviously, of finding out what was different. So Blaise was born just outside of Atlanta and Atlanta. Chloe is the number four children's pediatric hospital. They are amazing. We were just south of Atlanta, though. We have a large Prader Willi community in Georgia, and he was born and was taken to the NICU immediately. He had hypotonia, low muscle stone. His testicles were undecided, which is standard for boys born with Prader Willi syndrome, and he was ragdoll, sloppy baby. So they put him in the NICU. But he continued to improve when he was in the NICU and he went home. We had a pediatrician who put us in physical therapy at six months old. Although despite him having a child with crawlers in his practice, Blaise didn't necessarily fit the bill. So it wasn't until Blaise was 18 months old, he started to put on rapid amounts of weight and they thought, oh, he's just eating too much. Cut back. We did. He lost a little bit. But then it just got out of control. And he looked very much like a child that is on steroids for a medical treatment. So during that time that whole year, we went to lots and lots and lots of doctors. During that time, somebody else in my ex husband's family had said something about it, but they said, no, we've done genetic testing. He's fine. And we encountered a really beautiful cardiologist who said, I don't think he has it, but you didn't have the right vest. I knew right then I knew right at that moment, we went to A. Rheumatologist. The next day, we forced him to give us a test, and it was the longest three weeks of my life. And then the call came, and I knew what it was going to be. So indeed, he did have it. And do you remember from the genetic testing of what the difference is for him of, like, what that diagnosis was or just it was like, okay, you heard Prader Willi syndrome, and we're like, okay, that's our answer. And that's the community that you're starting to find at that point. Well, I'm kind of a medical nerd. So for me, I was like, obviously, it was devastating because I had been researching it prior 15 years, even this long ago, things were not as nice on the internet as they were now. So it was devastating. I cried for a few days, but then I was like, okay, it's time to get busy. I created a Facebook page. I had 6000 people on the page. In a very rapid amount of time. I was on a mission to get Blaise and us on Oprah, and I lived, breathed, eat and slept prototylist syndrome. I had him in 20 hours a week of therapy. I drove. My whole life was like, doctor's appointments, eating this way. It was everything because all I knew was that my child could die, and it's my responsibility to help him thrive and stay alive. And so I Dove off the high, dive into the dive into the pool as fast as I could. So it was really overwhelming. Thankfully, the prototype community is the most beautiful community of people. We are definitely family. We are a very tight group of people. And for anybody who has any diagnosis, I really encourage you to reach out to the people that are in your network because they are the ones that are going to be your lifeline. I think that's really good advice. And I just have so much admiration for you and other parents and caregivers of rare disease kids, because, as you said, you guys are such fierce advocates because you need to be. But you're stepping it up to really be able to say, okay, I'm an advocate for my kid, and I'm going to make sure, like, with the testing, you said we really push. We need this testing and just doing that research even before you had results. It sounds like what would you say is some of the more on the challenges side with Blaise of challenges, maybe on a daily basis or different things that come up. I know things change over the years. As you said now, he's a teenager, so probably different from when he was a toddler. But what would you say? Some of those challenges are, well, I just want to speak in general terms for just about 1 second is that a lot of people come to me when someone new was diagnosed and I remind everybody wholeheartedly that really is a spectrum. It is an absolute spectrum. Find somebody who is about two years ahead of you in the journey and stay close to that person. They'll be your guide. Okay? Don't look for somebody whose kid is 20. When you have a newborn, they will live completely different lives as a whole. Blaise falls very much in the middle of things, and many of the challenges that we face are obviously food related. So that's first and foremost is that we are on call 24/7 a day. So when I first moved back to California, I stepped on my stuff up for seven months because he was getting up every night and breaking into all food cabinets to steal everything. Despite lots and alarms and everything, food is not an issue for everybody. So the next biggest thing and actually is probably bigger for more people is behavioral challenges. Probably children. And adults are very rigid thinkers, the way that their brains work is very different, very significant compulsive disorders, mood regulations, you're dealing with medical issues and then the behavioral things. Blaise also has autism. And then Blaise has a host of pretty significant medical complications, namely gastrointestinal, which has put his life at risk more than anything else. And I would just say just managing, trying to manage all the pieces and is difficult. Early intervention is really important. Therapy is really important. It's really hard when you're a mom and or a dad and you have other kids there's many years where you just think, I don't know if I could do this anymore. I also want to say if I could step away from Blaise really quickly and say that I think more than anything, this is for anybody who has a rare disease child. It's very easy to when they get diagnosed, say they're the ones that suffer. It's them. And we all just have to kind of sit back and suck it up. And I made that mistake. And I didn't let anybody else, including myself, say this is hard ever for years. And that was the biggest mistake I could have made. It's a diagnosis for the whole family. And so we need to offer Grace to our other children. Compassion. It's incredibly difficult being a sibling of a child with a rare disease. Marriages suffer so compassion and understanding that, yes, your child physically suffers. But this is a diagnosis for the whole family, and it's hard no matter what condition you have, but especially, yeah, I think that's very well said and just the impact that it's not just person and their caregiver, their primary caregiver. It's so many people being affected. And as you said, you have another son and just how that plays a role of the time that you have to spend helping Blaise with his symptoms and helping to manage, as you said of food is a big aspect for him and other behavioral issues, and just being able to be there for both kids and process that. And it's definitely hard. I know I'm involved with a camp where the last week, it's a camp for kids with serious illnesses. Hole in the Wall Camp started by Paul Newman and the last week of the camp actually has siblings come because all these kids get to come to this camp throughout the year. And then the last week is for siblings. And at first I was like, oh, that's interesting. Why do they do this? And then I went to my we seen it on TV. This is why we do this, just being able to look at that whole family perspective, as you said, it really impacts so many people and being able to have those conversations and acknowledge that and support each other. And as you said, really reaching out to the community that you said Fort or Willy Syndrome, that you guys are very connected and such good advice. I've never heard someone say this, but it really rings true. I think that looking at someone that's two years older than your child to kind of give you a heads up of, as you said, spectrum disorder as a most genetic disorders and rare diseases. But I think that's really great advice and then paying it forward and finding someone that's two years younger as well. That was advice that was given to me. And I just want to piggyback one thing that you said very quickly, and that is offering the compassion to other siblings, right? Realizing that it affects the whole family and how challenging that is. But we have the default parents. And almost we hear about this a lot in typical families, neurotypical children. But this is a significant problem in our country that when you have conditions, especially ones like children that are medically fragile, it often befalls on the mother, but not always. But it befalls one parent and rare conditions, especially ones that have a medical and a cognitive component, cannot effectively be treated by one person. One person will eventually their body. They see a lot of sickness, a lot of people that end up hospitalized because we need to take care of ourselves. So having a support system. But if you are married or in a partnership or you live with your family, it's really important that you know how to ask for help if you are in a partnership with the other parents or whatever that family dynamic looks like. This has got to be like a two man job because it's almost impossible to do a loan. Yeah. And is there anything that you would like to leave our audience with before we sign off. My biggest piece of advice that I give new families when they get in touch with me. For whatever reason is that the medical and scientific community in the world is full of amazing people, brilliant people. And I believe wholeheartedly that every year we learn new, therapies new treatments, we just get smarter and wiser, and we learn things and new diets. And so if you did have a child born, first of all, don't go into the black hole of Google, contact PWSA right away, and they'll send you a new patient packet or Fpwr, reach out. Maybe you know someone, but try to reflect and take some time because your child will live a beautiful life. My son is the happiest child on the planet. He has friends. He experiences joy. He loves school. They will live beautiful lives. And the very last thing on top of that is that when your child is diagnosed, allow yourself to grieve. That is the most important thing, because if you don't grieve in the beginning and you try to avoid it, you will hit a wall and you will grieve just to grieve the child that you thought you had so that you can open the door to love the child that you now have, that is truly the most valuable piece of information for any parent of a rare disorder, allowing that time to process because it's not what you pictured, and you're getting your mind around kind of realigning and saying, okay, this is going to be a little bit different. And now we're going to learn about that. Thank you so much, Rachel, for just sharing your family's experience about Blaise and really just sharing all of this advice. I think you're really striking a chord with people that are listening in the rare disease community, especially in the PWS community. So thank you so much, so much for coming on.
