We Are Brave Together with Jessica Patay

Episode Transcript

Dr. Correa:
From the American Academy of Neurology, I'm Dr. Daniel Correa.

Dr. Peters:
And I am Dr. Katy Peters, and this is the Brain & Life Podcast. Welcome back, listeners. I hope everyone is staying safe and dry after all the hurricanes and bad weather. So, Daniel, I hope you are safe and dry in NYC.

Dr. Correa:
I mean, it's been scary how much things are impacting storms around the world, at least for the moment that we're recording right now. In New Jersey and in New York City, things have been safe. I've definitely been outside in the rain and so on, but that's just part of the variety of weather. But I know we're all concerned about how climate change will change storms across the world. My dad's in Tampa, and I have family in Florida and Puerto Rico. But thankfully, this season, aside from power disruptions and some flooding, everyone has been safe.

Dr. Peters:
Well, that is a blessing, and I'm so happy that your family is safe. I just, of course, worry about everyone that has to contend with these storms. One thing about severe weather, and I'll be honest with you, I just cannot handle snow. So I tend to be very prepared. I'm a true Southerner in that way, where as soon as you hear severe weather, I'm like, "Yes, be prepared." I'm out buying water. I'm getting bread, getting any food we need.
It usually centers around food, which is interesting. But I also always make sure that my friends and family are safe. I have a lot of family and friends in Texas and also in California, and I think it's important really to support your loved ones and your community, especially when there's emergencies going on, whether it's climate change or other challenges, if they're in the hospital.

Dr. Correa:
Katy, this reminds me, in the Brain & Life Magazine, we've had several times in articles where we've highlighted things that we should all consider about living with neurologic conditions around emergencies, thinking about planning ahead and considering if you have a medicine that may be running out, having an extra set for a month at home in case of emergencies, or if bad weather is coming, really double-checking some of these things.
In fact, this week, my grandfather is visiting my dad in Tampa. He had to get his doctor to call in some blood pressure medicines, because his legs were starting to swell up, because his flight was canceled. He missed his meds. So I think it's something for all of us to consider, and the Brain & Life Magazine has resources to think about planning for emergencies, climate or otherwise, for your own family and for yourself.

Dr. Peters:
Yes. Definitely be prepared. I now have a whole box of just materials just in case. If my mother had to go to the hospital, I should make sure that I have all of her insurance information. I have all of her medication information. And we talk all about this in the Brain & Life Magazine, and we've also talked about it on the podcast. And I think our guest really today typifies sort of the spirit of organization and community and coming together.
Her name is Jessica Patay. She's a mother and a caregiver, and she's also founded an organization called We Are Brave Together. And it is an organization whose mission is to preserve and protect the mental health of caregiving mothers of disabled and neurodiverse children. She was really inspired to do this and form this organization because of her experiences with caregiving for her son, Ryan, who was diagnosed with a very rare genetic neurologic condition called Prader-Willi syndrome.
And so, we're going to learn more about this really interesting organization about bringing people together, allowing people to help each other through challenges such as taking care of themselves when they're also taking care of a disabled or a neurodiverse child.

Dr. Correa:
I'm really looking forward to hearing her perspective and more about this organization.

Dr. Peters:
Welcome to the Brain & Life Podcast, and I want to just thank all of our listeners for being here today. I'm very excited because we have our guest, Jessica Patay, who's joining us today. She founded an organization called We Are Brave Together, and We Are Brave Together is an organization whose mission is to preserve and protect the mental health of caregiving moms of disabled and neurodiverse children. She was inspired to form this organization because of her experiences with caregiving for her son, Ryan, who was diagnosed with a very rare neurologic condition known as Prader-Willi syndrome. So, Jessica, welcome to the Brain & Life Podcast.

Jessica Patay:
Thank you, Dr. Peters. I appreciate the invitation.

Dr. Peters:
And can you tell us where you're from right now and tell us a little more about yourself?

Jessica Patay:
Sure. I am in the Los Angeles area, so Southern California. Born and raised here. I've been married to my husband, Chris, for 27 years, and we have three adult-ish children. Luke is about to be 24. He is finishing his last semester at LMU. I have Ryan, who I say is the one that made me a caregiver. He is 21, and he is in the last year of being with the school district. He's in the transition program till he's 22. And then I have Kate, who is 19, and she is working and taking college courses.

Dr. Peters:
Well, it sounds like you've got a lot of activity at your household and beyond. Holidays must be so fun. So you mentioned that your son, Ryan, he was born and was later diagnosed with a rare disease called Prader-Willi syndrome. So for our audience, can you just tell us more about that condition?

Jessica Patay:
Sure. Sure. So when Ryan was born, he couldn't cry. He couldn't hardly move. He couldn't suck. And so, we spent a month in the hospital not knowing what was wrong. And then, thankfully, my husband pushed for a diagnosis. He had looked up his symptoms, failure to thrive, hypotonia, some medical issues that were going on, and he found Prader-Willi syndrome and said, "Will you test?"
So we got an early diagnosis when Ryan was five weeks of age. And the short answer is that you're born with low muscle tone, so all your gross motor, fine motor, speech milestones are delayed. Ryan didn't walk till he was three, even though he had OT, PT, speech since... Well, OT and PT pretty much since he was born, and then speech therapy started when he was one. So all your milestones are delayed. You're very much focused on milestones, getting on growth hormone, because it's specifically indicated for PWS.
The focus in the early years are the milestones and the early interventions, and those interventions do continue on. But then you read about this when you get a diagnosis, and you just cannot believe that this is a part of the syndrome, because you've got medical issues and genetic. It's genetically driven. And then you read about this food-seeking behavior that hits in childhood. It's called hyperphagia.
So in PWS, the brain and the body do not tell you that you've had enough food. You never feel full. You don't feel satisfied. And so, you become obsessed with food-seeking, because obsessiveness, anxiety is also a part of Prader-Willi syndrome, and that never feeling full leads to food-seeking behavior that is life-threatening. So Ryan's food drive was a slow burn, I say. We didn't have to lock our kitchen till he was 13. I thought we would be locking up our kitchen when he was five years old.
So it was a very slow, increased interest in food. And then by the time he was 13, we had to lock the kitchen. By the time he was 16, we had to become extremely vigilant, meaning don't open the fridge, and then, "Oh, got to run to the restroom," and then you run away for a few minutes. It always, always, always has to be locked.
And so, we live with a vigilance about that. Also, there are behaviors. There's anxiety. That's also a part of Prader-Willi syndrome. And so, we all kind of walk around on eggshells. I think it's definitely better now than in seasons in the past. But it's a spectrum disorder, and I apologize that there is really no short answer. I said I was going to give you the short answer, and I guess I lied.

Dr. Peters:
Well, I think it's really important to talk about really the stages and what happens, the trajectory of the illness. And I want to just give kudos to you and your husband for really picking up on his early symptoms and getting him diagnosed so early. So is that common? Do people get diagnosed at early? So how should parents and caregivers be informed to really push for those diagnoses?

Jessica Patay:
Well, I think anytime that you have missed milestones, it's important. And I know this is going to sound woo-woo, but I believe that we have a gut instinct that's given to parents, and we can follow that. And we often... Well, I've heard, in what I do, hundreds and hundreds and hundreds of stories, and I know that moms, especially, can be very dismissed and pooh-poohed because, especially if you're a new mom, everyone thinks, "Oh, you're just a new mom, and you're being anxious. Everything's fine with your child."
So if you have a gut instinct about your child, something is just not right, do not let that sit. Do not let anyone push that away, because it's there for a reason. Ryan was so severely low tone. He could not suck. He could not syringe-feed. He could not nurse at all. It wasn't that he sometimes woke up and was interested in food. I mean, he didn't wake to eat. He could not suck, and it was just very, very apparent that something was wrong.
So Prader-Willi syndrome is a spectrum. And so, if you have a baby who is able to nurse, which is very rare, or able to syringe-feed, it might get missed. But eventually, you're going to start to see that your baby is a little bit floppy or low tone or not able to maybe hold up their head as well as other babies, or they're not sitting at the average stage that you read in the textbooks, or crawling, or walking.
And also, babies with PWS are very, very, very mellow. Ryan didn't cry his whole first year. Now, that's a blessing to my nerves. But they're very, very, very abnormally mellow. And so, that can also tip you off as a parent, like, "Huh." You might think, "Oh, I just got a really easygoing baby." But again, if there's something that's like, "I think something's not right," really pay attention to that and listen to that, and ask for tests. Ask for genetic testing.

Dr. Peters:
Yeah. I think that's going to resonate with our listeners. Definitely go to your pediatrician, encourage to be seen by a neurologist, a child neurologist, to help with the diagnosis, and also get that early testing. So I couldn't agree more. Now, I checked out your website, We Are Brave Together. First of all, wonderfully organized, had so much fun looking at it. I felt so inspired, and I loved your favorite topics. So I'm going to use them to sort of help focus some questions. And so, your number one was the power of community, and I assume that this is really the defining spirit of We Are Brave Together. Can you tell us more about the community and your organization?

Jessica Patay:
Absolutely. So when Ryan was diagnosed as a baby, my husband and I, frankly, we were scared to death. Our jaws and hearts were on the ground. And so, we jumped into support groups, diagnosis-specific support groups when Ryan was two months of age, and we found our people. We found families to do life with. We found families who were ahead of us in the journey, who could organically mentor us.
And then when Ryan entered the school district at age three and went to a special education preschool, again, we found families in our town, in our city, in our area, in our school district that we bonded with, and that we could navigate this altered life together with. And so, it was very cemented to me the power of community, and how important it is that whatever it is you're going through in life, if you're going through loss, if you're going through divorce, if you have a parent who has Alzheimer's, or some sort of trauma or traumatic experience, to have other people in your life who have had those similar experiences is very comforting.
And you feel seen. You feel heard. You feel understood, because you have friends or you have community with others in similar circumstances. And so, that was really my why behind launching We Are Brave Together. One, I believe in the power of the friendship of women, and I believe that there's so much that we can offer each other when we leave competition and comparison and cattiness behind.
I say the intersection of our lives is a gift, and I know that sounds very Pollyanna-ish. But I think we have so much to offer each other when we come together, and then especially when you have shared lived experiences. Being in community together can be very powerful and very empowering and inspiring and helpful and practical. So I had to do something.

Dr. Peters:
I completely agree, and I applaud you bringing people together. We've actually studied this in our brain tumor patients, is that if they can come together to support each other, that's one of the best focuses for them in their healing journey. But I love that you've really done this for caregivers, and then you have a specific interest into the mothers too.
Now, on point number two and point number six, I'm going to sort of meld those together. So number two point, you are worthy of rest, respite, and connection, and number six was self-care is not a curse word. I just love that. And I think that I put these two points together, because self-care is just so key for our caregivers and parents. Can you tell us more about your thoughts on self-care?

Jessica Patay:
Well, first of all, I just want to acknowledge that we've heard the phrase self-care so much over the last several years, and it's really easy just to roll your eyes. Right? It's not about getting a massage or getting your nails done or having a glass of red wine and some dark chocolate. Those, I would say, are self-comfort practices. But true self-care is an investment into your mental health.
And so, it's engaging in practices that bring you peace or bring you joy, or help you access play, or grounds you, or centers you, or lights you up, whatever those interests may be. It's an investment into your mental health that will sustain you for the long haul. So if I go get my nails done, it's wonderful. It's a nice little break in my day, but it is comforting only while I'm there taking that break and listening to a favorite podcast or show. Once I leave the nail salon, it's over. There's no true investment into my mental health.
And so, I think it's really, really important that the eye-rolling that goes on with self-care is probably because it feels like a to-do list, and it feels like you're telling me to do something expensive or it's something that I can't access, or something that really doesn't help. But you are worthy of investing in your own mental health, whoever you are listening to this, and we are giving you permission to do so, because our culture will not necessarily give you permission to truly invest in your own mental health.
We are indoctrinated, especially women, to be martyr moms and to be good girls, and to give and give and give and do and do, and not think of ourselves, because if we think of ourselves or if we engage in self-care, because it has the word self in it, it's selfish. And I'm here to say that no, true self-care is about investing in your own mental health.

Dr. Peters:
I just will say that you've said that so perfectly, and I will re-record this. I will listen to it over and over again on this podcast, because you do need to make an investment. And it isn't just those short-term fixes of getting a pedicure or manicure or getting your hair done, or just even going outside and taking a walk. It has to be a long-term commitment. So what does We Are Brave Together do to sort of encourage that self-care that's a longer commitment?

Jessica Patay:
Well, I mean, it's definitely in all of our content that we put out, newsletter and social media, and then when we do half-day retreats or our weekend retreats. It's all about mental health education and healing, and practicing self-compassion, and practicing true self-care, giving you tools, resources, practical takeaways when you go back into your somewhat crazy or chaotic caregiving life. You have some tangible things to hold onto and to put into place.

Dr. Peters:
So number three is what our children teach us. So what have you learned from your children? And you have three beautiful children. I'm sure you get special lessons from all of them.

Jessica Patay:
I do. I do. Well, I would say having children, especially Ryan, has helped me. I say I'm a recovering perfectionist. So it really helps you shift priorities and focus. With Luke and Kate, I didn't make them check all the boxes in high school. I wasn't pushing them to get into top schools. Yes, college was always something encouraged and hoped for, and it's kind of what we do, and it's a great next step. But all my kids have been on unique paths. I've had to accept that about all my kids. It wasn't just textbook for Luke and Kate because they didn't have a genetic disorder.
They've taught me that what's more important is that I'm open to the lessons that they can teach me even more than I can teach them. And we think as parents, we have so much to teach, and we do. And yes, we have that responsibility. I'm not saying you throw out the parenting card. But if we are open to what they have to teach us, I think there's a lot of wisdom to be gained along the way. For example, just really the power of validation and good listening, and I think we all know that to an extent as parents. That's really, really critical.
But I would say Luke and Kate have really... I'm still learning. Just listen. Just listen and validate what I have to say. Not everything has to be a teaching moment, and not everything has to be like, "Let's flip this into something grateful." That's toxic. That's bypassing what I'm really telling you. Just listen. Just listen.

Dr. Peters:
I agree. And you mentioned Luke and Kate. They're the siblings of Ryan. And so, point number four is, what about the siblings in the family? And when I read this on your website, I was like... Usually, when I see a patient in a room, it's usually just one person comes with them, and there are extended members of that family, and how that impacts them. So I'm very curious to see what your take is on the sibling issue.

Jessica Patay:
I have so much to say. We could do a whole podcast episode just on that. And I do have a resource on my website about what the siblings in a disability family or medically complex family need you to know or need to hear from you. And I, again, learned a lot from Luke and Kate in the last few years. Also, we went to family therapy. That was very, very, very helpful.
I think it's important to tell the siblings, "You have a voice in this family. Your voice matters. And even though one of the kids in our family requires so much time, so much energy, so much attention, I have time for you, and your voice matters. So please speak up, because I'm not a mind reader. I love you dearly. I will try to be as attuned as I can. But you need to tell me about your highs, your lows, your worries, your stresses, your concerns, your dreams. I'm here for it, and your voice matters."
I would also implore parents to have one-on-one time with the siblings, one-on-one dates, one-on-one trips. Do trips as a family without the child with the diagnosis. I know that sounds hard for some parents to hear, but our family just got to a point where we just couldn't, as a family, do family trips, all five of us. And so, we do make time for the four of us to get away, because we all need a break from caretaking and from the stress and the anxiety that we live with.
Whatever you have felt as a parent to a child with unique or high support needs, whatever that is, the siblings have felt. Sadness, loss, disappointment, embarrassment, frustration, exhaustion, exasperation, worry, all of it. The siblings feel it as well.

Dr. Peters:
And I think just understanding that and having a platform with your organization, that with We Are Brave Together showing that this is happening to our family. This is happening to the family down the street that has maybe an autistic child, or somebody who has a child with cerebral palsy, and sort of what's happening dynamically to all the members of the family, whether it's the mother, the father, the siblings, extended family.
I also talk with grandmothers or grandfathers that end up taking care of people that have neurologic disorders. So I really appreciate that you reached out about that. And the point number five was really that there's a cyclical grief in caring for a child with a disability. Now, can you sort of elucidate us sort of the concept of cyclical grief and what it means to you, and what it should mean to our listeners?

Jessica Patay:
Yes. So when a diagnosis is delivered, it can be devastating, depending on how it's delivered, depending on the diagnosis and the severity or the prognosis. And there's a grieving that goes on, because before that diagnosis or before you had that child or before something happened, because you could have many years and have a normal, healthy child and something hits, you had a dream. You had a thought. You had a vision of what your family life would be like, what your relationship with that child would be like, what their relationship with their siblings would be like, what the future looks like.
It's kind of like when you go shopping for a house and you already know where the Christmas tree is going to go, or what have you. It's like, when you have children, you have a vision. You have a dream. You have an idea. And if you're a perfectionist thing, you can be really idealistic about what you think family life is going to be like, and then a diagnosis shifts everything on its axis.
And so, you have to grieve that loss. You have to grieve, "Oh, life is not going to look like or feel like or play out like I thought, like I dreamed, like I hoped. It's going to be different." And so, you have to grieve that. And what I say is really about any loss. I've been through other losses, other experiences where grief is a part of my life, and you don't ever really get over it. You really don't.
And so, I want to free parents. I want to free anybody who's been through loss in some way or grief. You don't get over and like, "Oh, I'm good now. I'm fine." I think over time, grief has less of a painful, horrible grip on you, I say. In the beginning, it's like you're walking through thick, thick molasses. It's just so thick. It is so palpable. But eventually, it's like walking through air. It's there, but it's not as palpable.
And I say that if you're stuck in the grief cycle, then it's definitely time to get help with a coach or a therapist or a mentor. When I say that it's cyclical, it's because there are things throughout your life or lifetime of your child where those grief buttons are going to get pushed. Ryan didn't get his high school diploma. And if I see cousins getting their high school diploma or my friends' kids getting their high school diploma, that can push the grief buttons. When I see people crying about being empty nesters, well, I will never be an empty nester, that can push my grief buttons.
And so, it's normal. It doesn't mean there's anything wrong with me, doesn't mean there's anything wrong with you when your grief buttons get pushed. I lost my mom 20 years ago. I can walk into the Mother's Day aisle of a card store or Rite Aid, and all of a sudden, my grief buttons get pushed again, and they haven't been pushed in five years. That is normal. Grief is cyclical.

Dr. Peters:
And it's okay to grieve.

Jessica Patay:
Yes.

Dr. Peters:
We will all have moments of sadness, and we will also have moments of joy. Life does have its ups and downs. And I think that for your organization, We Are Brave Together, of building that first point, that community, that power of community is key to this, because we are all having the same kind of experiences. They're all normal, and we all can have both challenges, but also hopes and aspirations. So I really appreciate you sharing that. Now, I know that you have your organization, We Are Brave Together. What are your hopes and aspirations for the future of this organization, and what are sort of the next steps?

Jessica Patay:
Well, we definitely would like to grow in our offering. So right now, we offer support groups that we call Connection Circles. We have Connection Circle leaders all over the United States. I would like to get abroad again. We did have one in Australia and one in New Zealand at one point. I would like to grow, because those are caregivers leading those groups. They're boots on the ground, really touching moms' lives and helping them feel like they're not alone. So I'd like to see that grow.
Right now, we offer eight to 10 retreats per year, and I would like to grow that as well. I would like to be able to offer more and in more locations. So in 2025, we'll be expanding to places we haven't been before, in parts of the country we haven't been before. Our membership for We Are Brave represents all 50 states and 27 countries. So I would like to do some retreats abroad eventually even. So it's just a matter of really growing our donations, fundraising, fundraising, fundraising, to enable us to do that.
We also have a podcast that's free. Membership to We Are Brave is free. Almost everything we offer is for free, and that is intentional, to make it accessible. And even our retreats are only $300 for a weekend, because we cover 75 to 100% of the cost, and we also offer retreat scholarships, because we're really trying to make a weekend of rest and respite and connection and laughter and learning accessible to moms.
And we also have an offering this year where we put together... We published an anthology of caregiving stories to raise awareness about caregiving, extreme, extraordinary caregiving, the exquisite love of mothers, and I would like to do more anthologies. And so, that's definitely in the future. So I think growth in our offerings and then certainly just growth, reaching more and more moms and helping them feel like they are not alone.

Dr. Peters:
Well, you are not alone. We are brave together. Jessica, thank you so much for sharing your insights and your passion for supporting moms with neurodiverse children. I think that we're only going to see growth for this, and I'm so excited. Thank you for sharing your mission from your organization and your podcast, and I would also say thanks to our listeners. So thank you.

Dr. Correa:
Can't get enough of the Brain & Life Podcast? Keep the conversation going on social media when you follow @NeuroDrCorrea and @BrainandLifeMag, or visit brainandlife.org.

Dr. Peters:
Hello, everyone, and welcome again to the Brain & Life Podcast. I am, again, your cohost, Dr. Katy Peters, and I'm so honored to introduce our medical expert today, Dr. Emily De Los Reyes. Dr. De Los Reyes is a attending pediatric neurologist at Nationwide Children's Hospital and professor of clinical pediatrics and neurology at The Ohio State University College of Medicine. She is the director of Nationwide Children's Batten Disease Center for Excellence and is the lead specialist for Pediatric Neurology Neurodevelopmental Clinic, and I'm very excited to talk to her today. So welcome to our podcast.

Dr. De Los Reyes:
Thank you, Dr. Peters, for the kind introduction.

Dr. Peters:
Absolutely. Absolutely. Now, can you tell us just a little more about yourself and where you're joining us from?

Dr. De Los Reyes:
Yes. So as you mentioned, I am a pediatric neurologist with a subspecialty in neurodevelopmental disorders at Nationwide Children's Hospital in Columbus, Ohio. I specialize in rare disorders, and I was invited to be a member of the Prader-Willi Clinic about 10 years ago.

Dr. Peters:
Oh, thank you so much. And I'm sure with those rare disorders, that has to mean so much to your patients and their parents.

Dr. De Los Reyes:
Yes. They are special families, special children. I enjoy working with them and trying to find treatments and cures for them every day.

Dr. Peters:
Well, wonderful. So I know you specialize in really the scope of neurodevelopmental disorders. For our listeners, can you sort of tell us what that means? What is neurodevelopmental disorders?

Dr. De Los Reyes:
So children with neurodevelopmental orders may have challenges in several areas of their lives. For example, the ability to walk. For example, at an expected age, we expect them to walk at approximately 12 to 15 months, or we expect them to say specific milestones, such as talking, by at least between nine to 12 months. So I see children with those difficulties, and I also see children with possible autism spectrum disorders. So that's also a specific clinic where I go to.

Dr. Peters:
And that's important. My next question actually is on autism and that term spectrum disorders. Doctors use that term spectrum. What does that mean? What does it actually mean?

Dr. De Los Reyes:
So we use the word spectrum because every individual is different. Correct? So spectrum means anywhere from a child with specific disabilities, such as being unable to say words or being able to communicate to us high-functioning as even physicians, like you and me, Katy, where they may have autism symptoms but are able to function at that level.

Dr. Peters:
Oh, that's fascinating, because it really is a continuum.

Dr. De Los Reyes:
Yes, that is... Yeah.

Dr. Peters:
You start as a little kid, but you're going to eventually be an adult.

Dr. De Los Reyes:
Yes. Exactly. So I always encourage my family so that although we may not be able to tell the future, because nobody has a crystal ball, it's quite important to impact our children very early on as every mother and father wants so that they could be able to function in the future.

Dr. Peters:
I feel like you're hitting the nail on the head for all my questions, because my next question is, what are those first signs and symptoms that alert parents that maybe something is going on with their child, that they could have a neurodevelopmental disorder?

Dr. De Los Reyes:
So a lot of times, the children are not born with a specific book, right? But there are books about, when are we expected to walk? When are we expected to talk? So sometimes the families or the pediatrician may say, "Let's wait. Let's see what happens. Sometimes boys may walk slower compared to girls, or sometimes you may even have two or three children, and this child is quite different."
But as you know, as a pediatrician, you will have to visit your pediatrician, and they will ask you specific questions about milestones. So that's quite important. So yeah, the lack of achievement of specific developed milestones are quite important to touch base very closely with your pediatrician for those issues.

Dr. Peters:
So milestones include walking, talking, crawling. Is that correct?

Dr. De Los Reyes:
Yes. So walking, eating, even fine motor difficulties.

Dr. Peters:
Okay.

Dr. De Los Reyes:
So, for example, you go from being able to feed to being able to feed yourself, or as, for example, you're just laying in your mom's arms. What's the next thing do you do? You roll over. And after that, you're expected to be able to sit, approximately six to nine months. And after that, you're expected to crawl, around nine to 12 months, some children sooner rather than later. And then you start to go from crawling to standing up, to walking. And after that, you go from walking to running.

Dr. Peters:
Yeah. And so, it's how you do those things in a certain way, in a certain lineage.

Dr. De Los Reyes:
Yes.

Dr. Peters:
What is the next step?

Dr. De Los Reyes:
Yes.

Dr. Peters:
Now, I'm an adult neurologist, but I did rotate through peds.

Dr. De Los Reyes:
Yes. All of us. Yeah.

Dr. Peters:
Some great people. Yeah. Great group at Kennedy Krieger, where I also was trained at Hopkins. And so, I got to work with them.

Dr. De Los Reyes:
Yes.

Dr. Peters:
One of the things that we also looked at was if children had a regression in those milestones. Can you sort of describe what that means for our listeners?

Dr. De Los Reyes:
So in regression, some families may tell me that they used to be walking, and they used to be running, and then suddenly, they may have problems with balance or falling a little bit more than average. For example, I have some children with neurodegenerative disorders, like Batten disease, where they may have some language delay, and they may be even in speech therapy, and suddenly, they lose the ability to say words. For example, as simple as saying, "Mom, help me," or "Dad, show me this." So they may start going from a 50-word vocabulary to 20-word vocabulary, or even a loss of language skills as the disease process continues.

Dr. Peters:
That can be just so heartbreaking, I'm sure, for parents.

Dr. De Los Reyes:
Yes. Absolutely. Yes.

Dr. Peters:
Now, what diagnostic tests do you use? You've already sort of described you're examining the patient. You're getting the history. Are there particular diagnostic tests you sort of hone in on when you want to determine that cause of that neurodevelopmental disorder?

Dr. De Los Reyes:
And when I have children in my specific clinics, I am a multidisciplinary kind of gal. So I rely a lot on my colleagues also, aside from just examining them. So in my multidisciplinary clinic, in neurodevelopmental clinic, we have physical therapy, occupational therapy, speech therapy, psychology. So we all examine different points of their lives. For example, the physical therapist will help me with examining them with their walking or their ability to crawl, even go up steps. I will examine them for spasticity or areas of weakness, especially, for example, if we're worried about children with stroke.
And then our speech therapists, they're very good about trying to elicit language from their children. They have special skills, and the ability to be able to... How is your receptive language? If they're not speaking or they cannot say words, are they able to convey what they need? Are they able to point to their needs? Are they able to wave at least bye-bye, blow kisses, gestures? So those are things that I look at the most.
Now, in children with global developmental delays, the current recommendation, meaning they have deficits in motor, fine motor, gross motor, language skills. I start with specific genetic testing. For example, a chromosomal microarray in fragile X to check whether there's any deletions in their chromosome structures, which we may see in the specific area that we're looking at, which is Prader-Willi syndrome, or there may be duplications in their gene.
And with that diagnosis, because of the information, not just from medical literature, but from families, I'm able to guide them with their future. I'm able to guide them with regards to what other areas we worry about. And for example, like we're going to be discussing today, so Prader-Willi is not just a developmental disorder. It encompasses other specialties, and that specific diagnosis is very important so that you could meet the right group, the right group of physicians or the right group of families, to help guide you for the future.

Dr. Peters:
Thank you so much for that discussion. And again, one of the reasons why we're here today is because the guest that we had in our podcast, her son had a diagnosis of Prader-Willi syndrome. So now, can we delve more into that condition?

Dr. De Los Reyes:
Yes. Absolutely. So Prader-Willi syndrome is a complex, multisystemic, neurogenetic developmental disorder. There is a lack or failure of expression of the paternally inherited gene on chromosome 15. So it is a classic imprinting disorder, much like what you and I learned in medical school. So generally, in most cases, there is a paternal deletion.
On the other hand, you can also have what we call a maternal disomy in which both chromosome 15s are inherited from the mother. We call it uniparental disomy. So there are two copies of the maternal chromosome 15. So the cardinal features in Prader-Willi syndrome manifests quite early on. So the families will tell me that they may have severe infantile hypotonia with feeding difficulty. So this may be even manifested in the neonatal intensive care unit, because they have difficulties feeding.
And then these children with Prader-Willi syndrome may have short stature and, as I mentioned earlier, some developmental delays. This is followed by hyperphagia. So you go from a child who has feeding difficulties, because they're eating too much, and then they may have onset of obesity during early childhood if it is not controlled.

Dr. Peters:
For our patient, or excuse me, for our guest that was on there, the first signs that her son were the hypotonia that she noticed, and that he did have challenges with feeding, and then, later on, did develop that hyperphagia. Now, are there treatments available for children with Prader-Willi?

Dr. De Los Reyes:
Yes. Absolutely. So much like I mentioned, the cardinal treatment right now is actually growth hormone treatment, which is initiated very early on. We feel that growth hormone helps with bone mass, motor function, and growth. And aside from growth hormone, we also recommend very early on speech, language, and gross motor therapy, like physical therapy, to help with strengthening of their muscles, because the children will eventually, I would say 99.9% of them, walk, but we also need to strengthen their muscles.
So we recommend physical therapy or speech and language therapy. We also, nowadays in this age of laptops and computers, when children have moderate to severe language delays, we even recommend we have communication devices to help with them.

Dr. Peters:
That's wonderful.

Dr. De Los Reyes:
Yes. Yeah. So in our children with... We have laptops where they can kind of tell me or point and use their fingers. In Rett syndrome, we even use what we call Eyegaze devices, which I didn't have early on 20 or 30 years ago. So much of the technology of today is able to lift our children up to a better life for the future.

Dr. Peters:
That is so wonderful. I didn't even know that we had an opportunity to do that. But that's almost unlocking the child that maybe has a motor problem with their mouse to communicate, because that's what we all... We just want to know that we're doing well by them.

Dr. De Los Reyes:
Yes. Absolutely. It's amazing when they have all these thoughts inside them, and they suddenly are able to communicate to you. So if I walk in and the children say, "Bye, goodbye," that means they're ready to go. I am happy because they're able to communicate what they actually feel inside them. They'd rather be in school than be with the doctors. I'm okay with that, as long as they're able to communicate with me what they want and need.

Dr. Peters:
That's so true. And we actually had one of our podcast episodes previously featured Makayla's voice, who is an autistic child who's nonverbal, but has other ways of communicating, and sort of being able to... It's almost like uncovering a treasure.

Dr. De Los Reyes:
Absolutely.

Dr. Peters:
You're opening up that box, and it's like, "Wow," all those thoughts. If we can find technological ways for them to communicate, and I'm just giving kudos to you, because it's truly your multidisciplinary clinic that's looking at such those young patients to give them an opportunity to thrive the best that they can.

Dr. De Los Reyes:
Thank you. Yes. I am excited for their future. Yeah.

Dr. Peters:
Now, you mentioned those exciting treatments. Any other new interesting areas of research for children with neurodevelopmental disorders?

Dr. De Los Reyes:
So here in Nationwide Children's, we are very proud of our work. One of my mentors was Dr. Jerry Mendell, who brought forth gene therapy for spinal muscular atrophy and muscular dystrophy. So a lot of our work is centered on finding cutting-edge cures. So that is our future, and that is why my main interest is rare disorders. So I have been involved with gene therapy for Batten disease. I know in Prader-Willi, because we know it's a deletion, there is research moving forward for Prader-Willi, which is one day I hope comes to fruition.
Most of the research for Prader-Willi syndrome is mainly because we think Prader-Willi syndrome is more centrally related, like more of a hypothalamic dysfunction. So in the future, because hyperphagia is such a big problem for our children as they grow, we are hoping that we can find a specific gene therapy that signals a downplay or downregulation of that hypothalamic signal that makes them want to have food-seeking behavior to the point that it becomes a behavioral issue or a matter of fights or contention with a family.
So that is my hope in the future, is to downplay the hyperphagia in Prader-Willi. But at this point, again, it's still multidisciplinary. So in our clinics for Prader-Willi, we have nutrition, social work, psychology, or even psychiatry to help with that specific problem, because we go from, as I mentioned earlier, a child who barely wants to eat to a child who may have hyperphagia. And so, we need to even that out or have a right balance for the children as they grow.

Dr. Peters:
And our guest that we had on earlier, whose son has Prader-Willi, her organization that she started was really about supporting the mothers of children with neurodevelopmental disorders. And one of the things that I think she also talked about, which I felt like it was quite compelling, because it's something I don't necessarily ask about in my practice, but maybe as a pediatric neurologist, we can tap into you more, is really what's happening to the sibling children of those with neurodevelopmental disorders. Can you sort of tell us more about what we can do to support mothers, fathers, and siblings?

Dr. De Los Reyes:
Yes. So for most neurodevelopmental disorders, we rely a lot on our family associations, because we are with them at specific times of the day, but the everyday living is very hard. So now, again, moving into our age of Facebook or whatnot, they kind of have their specific kind of chats, and they all like to talk to each other. So with regards to supporting them, I would always try to tell my families and direct them to our family-oriented associations.
And for Prader-Willi syndrome, I know that each state has a chapter, and they even have a research arm of their organization that helps with what we've been talking about. You mentioned siblings, which is extremely important for me. So when my parents come from all over the country or to come meet me, I usually ask the siblings, like, "How are you doing?" Because sometimes their families are so concentrated on the medical needs of their other child that sometimes I worry about what these siblings feel.
So I always encourage. So, for example, if a family from Indiana or from Kentucky comes, I ask them, "Okay. So it's going to be a day. Would you like to visit the zoo?" So it's a family visit rather than it's just a visit to see Dr. Emily. And so, yes, it's extremely important to know what they feel, because sometimes the younger or even this older sibling becomes more adultified, because they have to help their mothers. They have to help their fathers with the support of their families, or they may feel too isolated, because much of their time is spent with their children with neurodevelopmental disorders.
So I agree with you. We don't want the siblings to be the lost child. So I think it's important to bring them into the mix. So a lot of our family organizations may even have sibling groups when they have their meetings, and the siblings can sort of almost rely on each other's experiences and suggest and lift up the other sibling to be able to overcome any of their anxiety or any of their difficulties.

Dr. Peters:
Well, you've definitely uplifted us today. Thank you so much. And Dr. De Los Reyes, I mean, from a clinical perspective, from a scientific perspective, from the holistic perspective that you provide for these children with these rare neurodevelopmental disorders, I just want to thank you for what you do.

Dr. De Los Reyes:
Thank you very much. I think my hope one day is that my medical students and residents will one day tell me that they found not just a treatment, but a cure for our children.

Dr. Correa:
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Dr. Correa:
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Dr. Peters:
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