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#163 Rachel Pastiloff & Krystle Davis On Prader-Willi Syndrome

by Kira Dineen
November 19th 2021

On this episode we are joined by 2 guests, Rachel Pastiloff and Krystle Davis, who share their insight on Prader-Willi Syndrome. 


how is it that we find ourselves surrounded by such complexity. Such elements jeans, you and me are all made of DNA were all made of the same. Hello, you're listening to DNA today, a genetics podcast and radio show. I'm your host here, Deneen. I'm also a certified genetic counselor practicing in the prenatal space. On this show, we explore genetics impact on our health through conversations with leaders in genetics. On this episode. I have two guests joining me to learn about Prader Willi syndrome. Rachel passed off as a mom of two who lives in southern California. She's active on instagram teaching card. Hold facts of living with a child with a rare disease and she is passionate about advocating for her son plays with Prader Willi syndrome and the entire family's well being Crystal Davis oversees the execution of clinical operations Of a Phase two clinical trial in printer release syndrome at harmony Biosciences.

She enjoys working in clinical research knowing her work may make a difference in someone's life. Wanna chat with genetic counselors. You should attend the virtual open house at Sarah Lawrence College. In this event, you can learn what it's like to be a genetic counselor and you'll have the opportunity to ask questions live. You can also hear insight about the genetic counseling Master's degree program at Sarah Lawrence College. It's the largest program in the world, which means there are so many alumni to connect with, including myself. I graduated from the program last year and I'm really looking forward to chatting with you. The open houses on December seven, go to slc dot E. D U slash Dini today or use the links in the show notes to sign up for the free genetic counseling open house. See you there. Understanding how our DNA contributes to disease risk is no longer science fiction. Apologetic risk scores, add up the effects of thousands or even millions of genetic variants spread across the genome. We can use apologetic risk scores to assess how a person's DNA influences their risk of common diseases. A la liga has created a secure entrusted platform for apologetic risk score analysis and reporting health systems.

Clinical laboratories and research institutions can be equipped with the Lillikas, cutting edge tools to deploy apologetic risk scores to identify more people at high risk to reduce the impact of common diseases, interested in learning more visit Aleka dot com politica empowering the next generation of clinical genomics. Well, 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 Prader Willi syndrome and introducing the audience to your son Bly's and just telling us a little bit about him. So my general experience with properly syndrome and by the way people say both ways. Prater and broader. Um 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 um, 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 um, 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, POWs is a spectrum. So like many of us, um, we experienced 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 the time. That's very, very difficult and sometimes you experience the time. That's really beautiful. My son, blaze 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 there, he's become a teenager. It's, it's a really fun time. Still challenging, but a really fun time that being said, when you are probably parent, you are a vigilant, supreme human.

So it's been a challenge. It's definitely been a challenge. And when did printer Willi syndrome first come on your radar? When did you notice something was a little bit different with blaze that started that diagnostic odyssey of finding out what was different. So Blaze was born just outside of Atlanta. And Atlanta has um trauma is the number four Children's pediatric hospital. They are amazing. We were just south of Atlanta though. Um we have a large probably community in Georgia and he was born and was taken to the Nicu immediately. He had hip antonia, low muscle tone his testicles were understanding which is standard for boys born with literally syndrome. And he just you know he was ragdoll floppy baby. So they put him in the neck view. But he continued to improve when he was in the NiCU and he went home we had a stoop pediatrician who put us in um physical therapy at six months old. Although despite him having a child with primarily in his practice um Blaze didn't necessarily fit the bill.

So it wasn't until The place 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 he looked very much like a child that um 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 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 that you didn't have the right test. I knew right then. I knew right at that moment we went to a room, 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 he indeed he did have them. And do you remember from the genetic testing of what the difference is for him, of what that diagnosis was or just it was like okay, you heard Prader Willi syndrome and we're like okay that's that's our answer and that's you know, the community that you were starting to find at that point.

Well I'm a um kind of a medical nerd. So for me I was like, I mean obviously Um it was devastating because I have been researching my prior, you know um 15 years even, you know, this long ago, things were not as nice on the Internet as they were now. So um 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 and a very rapid amount of time. I was like on a mission to get blazed in Asan Oprah and you know, I live breathe eat and slept properly syndrome. I had him in 20 hours a week of therapy. I drove my whole life was like the doctor's appointments eating this way like, I mean it was everything. Um, because all I know was that like my child could die and is my responsibility to help him thrive and stay alive.

And so I dove like off the high dive into the, diving into the pool as fast as I could. So it was really overwhelming thankfully the product really community is the most beautiful community of people. We are definitely family. We are a very tight group of people and um, 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, I mean 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, you know, 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 um, side with blaze of challenges, maybe on a daily basis or different things that's 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. Um but what would you say? Some of those challenges are, Well, I just want to speak in general terms for just about one second is that um a lot of people come to me when someone new was diagnosed and um I remind everybody wholeheartedly that probably as a spectrum, it is an absolute spectrum. Um 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. Um don't look to somebody whose kid is 20, when you have a newborn, they will live completely different lives. Um as a whole blaze falls very much in the middle of things. And many of the chance 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.

Um So when I first moved back to California, I slept on myself up for seven months because he was getting up every night and breaking into all food cabinets to steal everything despite locks and alarms and everything. Um Food is not an issue for everybody. So that the next biggest thing and actually is probably bigger for more people is behavioral challenges. Probably Children and adults, her very rigid thinkers, the way that their brains work is very, very different, very significant. That's a compulsive disorders, um, mood regulation. So you're dealing with like medical issues and then the behavioral things Blaze also has autism. Um, and then Blaze has a host of pretty significant medical complications, um namely gastrointestinal, which have um 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.

Um, early intervention is really important. Therapy is really important. It's really hard when your mom and your dad and you have other kids. Um, and you're it's there's many years where you just think, I don't know if I can do this anymore. Um, I also want to say if I could step away from Blaze 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 to 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 their marriage 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 proud arising.

Yeah, I think that's very well said and just the impact that it's not just a person in 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 blaze with his symptoms and helping to manage. As you said of, you know, 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. Um 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 sorted 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 I, you know, at first I was like, oh that's interesting like why do they do this? And then, you know, I went to come in and this is why we do this. Yeah, just being able to look at that whole family perspective, as you said, it's it really impacts so many people and and being able to have those conversations and acknowledge that and support each other and as you said, really reaching out to the community um that you said for for party with water, uh prettier Willi syndrome that you guys are very connected.

Um and such good advice. I've never heard someone say this, but it really rings true. I think that looking at someone that's about two years older than your child to kind of give you a heads up of, you know, as you said spectrum disorder um as a most genetic disorders and rare diseases. But you know, I think that's really great advice and then you know, paying it forward of 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 um off, you know, offering the compassion to other siblings, right realizing that it affects, it affects the whole family and how challenging that is. Um but we have the default parent in almost, we hear about this, the law in typical Familys, neuro typical Children, but this is a significant problem in our country that when you have conditions, especially ones like products or Children that are medically fragile, it often befalls on the mother, but not always, but it befalls one parent and rare conditions, especially once I have a medical and a cognitive component cannot effectively be treated by one person, one person will eventually um their body, you know, 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 know you live with your family is 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 is this has got to be like a two man job because it's it's almost um it's it's almost um impossible to do alone. And is there anything that you would like to leave our audience with before we sign off? I my 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 uh huh in the world is full of amazing people, brilliant people and I believe wholeheartedly that every year we learn new therapies, new treatments. Um you know 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 um the black hole of google contact P.

W. S. Eh us today right away and they'll send you a new patient packet or F. P. W. R. Um 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. Um And the very last thing on top of that is that when your child is diagnosed allow yourself to breathe. That is the most important thing because 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 gonna be a little bit different and now we're going to learn about that.

Thank you so much racial for just sharing your family's experience about blaze 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 P. W. S. Community. So thank you so much for coming on. Do you know the power of apologetic risk scores. Apologetic for scores allow healthcare providers to more effectively help patients lower their risk of life threatening diseases. Alaska has designed cutting edge tools to reduce the impact of common diseases through genomic medicine, apologetic risk or analysis and reporting can be conducted through a Lillikas secure, interested platform their end to end apologetic risk or pipeline can determine a patient's absolute risk of common diseases. Through a simple file, upload of their genotype data, a Lillikas, apologetic risk or modules for new score discovery and validation performed the work of a team of bioinformatics shins. This enables researchers to generate the best performing apologetic risk scores using multiple gold standard algorithms, publication ready results can be achieved without months of bioinformatics efforts, learn more in our upcoming episode with the Lyrica in january.

But if you can't wait head over to Alexa dot com Aleka empowering the next generation of clinical genomics. Do you work inside a genetics Thinking about applying to new jobs? Well, I found a great position for you at UNC health. In this senior side of genetic technologist position. You'll join a team of 20 fellow technologists and specialists. The site of genetics lab at UNC health performs prenatal postnatal and cancer side of genetic testing on about 5000 cases every year and you'll have the opportunity to perform conventional psycho, genetics, fish and micro array testing. To learn more about this position and submit your application. Use the link in our show notes, You can also access the link at DNA podcast dot com, want to become a genetic counselor, curious to learn more about the field, you should attend the virtual open house at sarah Lawrence college in this event. You will learn more about what it's like to be a genetic counselor. You will have the opportunity to ask your questions live. You can also hear insight about the genetic counseling master's degree program at Sarah Lawrence College I graduate program last year and I'm really looking forward to attending and chatting with you all the open houses on december 7th.

So mark your calendar, Sarah Lawrence College is where genetic counseling was founded in 1969 and was the first program. It remains the largest genetic counseling program in the world. One in five genetic counselors graduated from the program, which means has an expansive alumni network, which I love some of whom you can meet during these open houses. Go to slc dot E D U slash DNA today or use the links in the show notes to sign up for the free genetic counseling open house. Don't forget to mark your calendar for december 7th at six p.m. Eastern. I'll see you there joining us now is Crystal. Thank you so much for coming on the show. I'm excited to learn about this clinical study for people with Prader Willi syndrome. So, to start out, what should people know about the study. Yeah, thanks so much care for having me. Um, so Harmony is currently conducting a Phase two clinical study evaluating the safety and efficacy of the total sent in people with Prader Willi syndrome. And so the purpose of this research study is to learn about the safety and effectiveness of Tolleson, which I just mentioned.

Um It's 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 into the study at about 15 different study clinics in the United States and just so you know, there are two parts to the study. The first part is called a double blind period and it means that the participants study doctor nor caregiver will know if the participant is taking you to listen or placebo as the study drug. And so if the participant agrees to be in the study and they're determined to be eligible and they will randomly be assigned to the investigation medication patrol sent or placebo sort of like flipping a coin. And the second part of the study is called the long term safety extension. During the long term safety extension of the study, every participant will receive the Tolleson at a dose that's appropriate for their age and um everyone will know the dose, the participant, the caregiver and the study dr and the long term safety extension will help the study dr continue to collect important safety information in people with prior willing and what is required from the participants to actually participate in the clinical study.

So participation in the double blind period requires five scheduled visits and those are over the course of about four months and participation in the long term safety extension requires um visits about every three months for the first year and every six months after that. And then um the study does require that participants agree to go to each of study visits like I mentioned and have all study visits performed. They agreed to take their sign to study drug, tell the study doctor if there are any changes in their medications and tell the study dr about any changes in their health. And oftentimes for these types of appointments, caregivers are joining with a patient. What should caregivers know about these visits and and how to prepare? Yeah, good question. The caregiver plays an important role in this study and the caregiver needs to be someone who is close with a participant and reliable. Um that's usually going to be someone like a parent, a family member or another responsible adult that knows the participant.

Um And ideally the caregiver is the same person throughout the study that goes to each visit with the participants and um the caregiver will go to each study visit at the clinic. They will provide information to the study dr about the participants symptoms and how well they're functioning. And the caregivers input will help obtain as much information as possible about the participant and how the participant is doing relative to the symptoms being assessed, such as sleepiness and behavior, things like that. Yeah. Caregivers are really important with this um and usually they're the patient advocates and really making sure that everything is going as planned and giving so much extra information um to to like the researchers and doctors that you've mentioned And the clinical study is taking place in the US um and you mentioned before there's like about 15 different cities throughout the us.

Um what are some of the places that people can go to to be a part of the trial? Like where the trial is being held? Sure. Yeah, the study is us only and we have sites spread out across the United States. So there are actually three sites in California kind of north central and southern California. We have a site in aurora colorado Wilmington's Delaware game, south florida, Chicago Illinois, Baltimore Maryland. Um Cincinnati Ohio Nashville Tennessee, Houston texas um actually two in texas, Houston and san Antonio um Salt Lake city, Utah Omaha Nebraska and then new york city. So um I guess I kind of spread across the U. S. And the nice thing about this is that If you, you know, don't live maybe 20 minutes away from one of these major cities. Um harmony will pay for the travel expenses if a participant needs to fly or needs um mileage meals hotels, that sort of thing will be covered.

And that's fantastic because that really can be a barrier for a lot of patients of, well, okay even though these sites are spread throughout the U. S. Like well how am I going to get there and just the finances surrounding that. So that's just amazing that this is really just available to people in the Prader Willi syndrome community. How long is the study projected to last? You know, you've talked about there's like the two major parts of the study. Um, but right now, what do you, what do you expect for the study? Yeah. So for the double plan period including screening, that total participation time is about four months total. And then after the double blind period is over, participants do have the option to roll over into the long term safety extension and that part can last more than a year. So at that point, like I mentioned before, um, participants will be receiving open label Patil isn't at a dose that's appropriate for their age and if people are listening and either they have a family member or friend with Prader Willi syndrome or their health care provider and they're like, I know patients that could really benefit from being enrolled in this clinical study.

How can those people be learning more about the study and maybe having them enroll and see if they're eligible as we talked about earlier. One easy way to learn more about the study and even get connected to the study site is to go to no rare study finder. Um and that's no rare K N. O. W. R. A. R. E dot com. No rare study finder type in Prada Willie and the study information will come up and then if you fill out a form nowhere, patient advocates can help navigate potential caregivers or family member to a study site directly. So again, that website is nowhere dot com. And another option is the email Harmony directly at clinical trials at Harmony Biosciences dot com or visit clinical trials dot gov. And Harmony is dedicated to developing and commercializing therapies for people living with rare neurological diseases who have unmet needs.

Fantastic. Well, thank you so much crystal for sharing this clinical study. And I'm really looking forward to seeing results that we have from this and hopefully really helping people with Prader Willi syndrome to help with some of these symptoms that are coming up like the sleepiness you talked about and some of the other symptoms that people experience just to kind of help people's lives a little bit more in their families. Um, so thank you so much for coming on. I really appreciate all the insight. Yeah, sure. Thanks so much. Sarah, Thanks for the opportunity. Are you a sight a genetic technologists? Are you seeking a new opportunity? Want to work with a team of 20 fellow side a genetic technologists and specialists. Lucky for you the site, a genetics lab at unc health has a position open. The team works closely with providers and human ecology, oncology, maternal fetal medicine, pediatric genetics and adult genetics. Unc health is the largest academic health system in north Carolina. And if you're not familiar with the Chapel Hill, north Carolina area, it's a vibrant college community that borders the research triangle part with its famed collegiate rivalries, beautiful green spaces and thriving economies.

The region is consistently ranked as one of the best places to live, work, play and learn. Don't live in north Carolina. There is relocation assistance available. This position offers a choice of $10,000 in tuition loan forgiveness or a $5,000 commitment incentive. In addition to competitive benefits package to learn more about the position and submit your application. Use the link in our show notes, you can also access the link at DNA podcast dot com. Learn more by heading over to DNA podcast dot com. You can connect with us on twitter instagram, youtube facebook by searching DNA today. Any questions for myself, Crystal or Rachel can be sent into info at D N a podcast dot com. And if you have a moment please, we would really appreciate if you could rate and review the show on apple podcasts or wherever you listen to this. This really helps more people find the show and educate more people about genetics. Thanks for listening and join us. Next time to learn discover new advances in the world of genetics and DNA.

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#163 Rachel Pastiloff & Krystle Davis On Prader-Willi Syndrome
#163 Rachel Pastiloff & Krystle Davis On Prader-Willi Syndrome
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