ONCE UPON A GENE - Episode 135 - A Rare Collection - Up At Night
There's power in storytelling- for the listener and the storyteller. A Rare Collection is a monthly series featuring people from the rare disease community, sharing a story with a common theme.
EPISODE HIGHLIGHTS
Mike Gralia, Dad to Tony and Founder of the Syngap Research Fund
Mike recalls the nights insomnia kept him awake, looking at Tony as he rested, and wondering what his life would hold. In the darkness of night, his fears had the freedom to emerge. Tony wouldn't sleep without hours of walking the hall, singing and rocking. Then he'd wake up in the middle of the night crying. Mike and his wife had demanding jobs and the lack of sleep took its toll. When he was three years old, Tony began having seizures and he was diagnosed within a year with SynGAP1, which causes major sleep disturbances. Each day as the sun sets, Mike knows he's going to watch the rerun of a series he knows all too well.
Jennifer Sills, Mom to Jules and Founder of CSNK2A1 Foundation
Jules, who has Okur-Chung Neurodevelopmental Syndrome (OCNDS), suffers from a severely disrupted sleep pattern. Jennifer shares of her loneliest nights, staring at the computer, searching for answers for Jules and an explanation for her symptoms. After Jules was diagnosed, the late night internet searches continued and revealed there were no OCNDS resources. Now, the nights aren't as lonely, as Jennifer has discovered over 190 families affected by OCNDS worldwide. She finds comfort in her community and knows she's not the only parent suffering from crushing fatigue. She finds comfort in reflecting on all that Jules has taught her about having purpose and perspective.
Charlene Son Rigby, Mom to Juno and Co-Founder of STXBP1 Foundation
As a night owl in college, Charlene spent countless hours hanging out with friends. After college, being a night owl leant itself well to life in the startup world. She prided herself on only sleeping 5 to 6 hours a night with so much to do. After having kids, nights became quiet and peaceful, a time to focus on projects and creative work. When her daughter Juno was diagnosed with STXBP1 disorder, her nights turned into hours of worry and researching medical papers. Nights were driven by urgency to help Juno and driven by fear for her future. But nights were also driven by optimism and a belief that science could and would help.
Sunita Malepati, CACNA1A Foundation
Sunita was told when she had her first child, sleep when the baby sleeps, but she was never good at taking that advice. Sunita pulls a second shift, staying up late, trying to figure out how to cure her daughter's rare disease, a CACNA1A-related disorder. After receiving a diagnosis, Sunita turned her grief and despair into hope and action. The CACNA1A Foundation became her second shift. As a rare disease patient advocacy organization, the foundation is focused on finding treatments and cures for the CACNA1A community by building a collaborative network of patients, families, clinicians and scientists.
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Full Transcript
Effie Parks00:03
I'm Effie parks. Welcome to once upon a gene, a podcast, this is a place I created for us to connect and share the stories of our notes. So typical lives raising kids who are born with rare genetic syndromes and other types of disabilities can feel pretty isolating. What I know for sure is that when we can hear the triumphs and challenges from others who get it, we can find a lot more laughter a lot more hope.
Lot less alone. I believe there are some magical healing powers that can happen for all of us through sharing our stories and I'll take all the help I can get
once upon a gene is proud to be part of bloodstream media. Living in a family affected by rare and chronic illness can be isolating. And sometimes the best medicine is connecting to the voices of people who share your experience. This is why bloodstream media produces podcasts, blogs, and other forms of content for patients, families, and clinicians impacted by rare and chronic diseases.
Visit bloodstreammedia.com to learn more. Hello friends, I'm Effie park. Once a month, I released this extra special episode in a series. I call a rare collection. It features a few people from the rare disease community, each telling a true story with the same theme. I'm super excited to present the 12th episode in the storytelling series.
I've always been moved by storytelling and I believe there is so much power in them for both the list. And the storyteller. I am the luckiest podcaster ever in that. This is what I get to do for fun, passion and purpose. Today's episode features for Valiant leaders, founders of rare disease organizations who are working tirelessly to create a home base for their community and to find treatments for their rare diseases.
Count your blessings. If you have a leader as fearsome. In fact, we can all be grateful for their dedication as their efforts help the entire rare disease community. The theme for today's show is up at night, the storytellers have the utmost freedom to be creative and take the theme wherever their heart desires.
Here's a story from Mike dad to Tony and founder of the sin gap research fund.
Mike Graglia02:19
The very first thing I did in my marriage behind my wife's back, that I knew she wouldn't approve it. With sneaking melatonin into our almost two year old son Tony's sleep had gone from kind of normal when he was born to a complete catastrophe.
He wouldn't go to sleep without hours of walking up and down the hall and our rickety home in DC, singing to him and rocking him. And then after all that work, he would still wake up in the middle of the night crying. It was making us crazy. Ash. And I both had demanding day jobs and the lack of sleep was taking its toll.
I'd done enough Googling to be sure I wasn't causing permanent damage. And I'd been married to actually I see long enough to know that I would definitely get in trouble for doing this, but we both needed sleep. So I started sneaking just a couple drops of baby nighttime melatonin into Tony, always feeling a little guilty, always a little concerned about what would happen when Ashley found out he turned two and then he turned.
When he turned three, he started having seizures and by the grace of God at the age of four, which is pretty quick in rare disease land, we had a diagnosis of syncope one that was four years ago. Now we know that sin gap, one causes major sleep disturbances that the seizures happen when the kids fall asleep and before the kids wake up and that sin gap kids almost like a trademark move.
We'll not go to sleep without some kind of medicinal aid and will generally wake up at the same time every night, normally when they should be slipping into REM sleep, but they're not, but I don't want to talk about sin gap. Let me just tell you about a life spent loving a child who doesn't want to slash cannot go to sleep by themselves those first two years before a diagnosis or even a problem to diagnose was.
Every day, we lost one to two hours trying to put this baby to sleep. It was so much, or our first instinct was okay, you do some work. I'll take the baby tonight. And that seems smart and efficient for young working professionals, but it took its toll on our time together. By the time Tony was finally snoozing, one of us had worked hard for two hours on our laptop and the other one was just exhausted.
From the very beginning of a relationship, loving a child with rare disease, you start losing an hour or two hours a day just tending to the sleep needs of that child. And that doesn't sound like much until you realize that when you both work and you're both commuting, you only have two, maybe three hours together to talk to connect, to plan about your life.
And we lost at least half of that for years and years now that Tony's diagnosed and the entire community is in constant conversation about sleep. We know that every child gets melatonin at night, unless they're getting something stronger or unless their antiepileptic drugs are helping facilitate sleep.
And we've almost become accustomed to waking up in the middle of the night. I now have a heuristic in my head, a process that I follow and Tony wakes up at three or four. Should I give him a little bit of melatonin now? Is he asleep enough that it will work? Is he too awake? Should we just go downstairs?
Sleep and some gabions, is it like a special level of hell? It just drips and drips and drips. And every day is a different challenge. I can't even tell you what it's like when we travel. We now have a rule that we don't go out of our time zone with Tony, because in the past, when we've gone to the east coast or we've gone to Hawaii taking Tony three times zones away takes an already bad situation and just turns it upside.
This whole circadian rhythm is shot and no, one's quite sure what's going to happen next. So we've just stopped going places with Tony instead of thinking, do we go east or do we go west? Now we go north or we go south. There was one time we had traveled all day to get to a nice hotel in Massachusetts.
And when we finally got there, all we wanted to do is luxuriate and sleep and get ready to see friends the next day. But instead we spent hours walking that beautiful little boy up and down the hall, rocking him, hold him, singing to him, hoping he would finally fall asleep. And then the trouble with that is by the time you've been through all of that, especially when you know, those are rare diseases.
Sometimes you catch the insomnia and you lie there looking at your beautiful child, finally taking rest, and you wonder what will their life hold in the darkness of night? All of your fears have the freedom to come out and walk around your head. Then you start looking at his melatonin. I'm wondering if you should take some, but you know, that's a bad idea because as a 50 50 chance that in a few hours, he will wake up crying.
And you have seconds to get to that bed, to hold him tight, to rock him and to sing to him and to prevent the waking from happening. Because if the waking happens, you're done. It's 4:00 AM and he is sitting up straight talking a mile a minute, asking for his iPad. The best you can do is whisk him downstairs to the couch.
Put on Zen animation on Disney plus is my current face. And let him watch that in the hopes that you can fall back asleep, nighttime with a sin gabion is a constant challenge as the sunset. You know, that you're about to watch a rerun of a movie you've seen before, but you're not sure which one will it be?
The happy ending where you miraculously get some sleep, will it be the usual where you don't get enough sleep and then you get woken up, but you somehow get it. Or will it be the really scary one where you finally get him to sleep, but then a few hours later you're up and he's talking and at a certain point, you give up and get your laptop and let him watch YouTube, nighttime with a sin gabion and then suddenly you realize it's not a movie you're watching a rerun of, it's a series.
You start to detect a pattern, but that's a story for another time. Nighttime with sync gabions is challenging and I'm so glad that I didn't get in trouble for giving him that Mellotron. All those years ago.
Effie Parks09:04
Here's a story from Jennifer Sills mama to Jules and founder of
Jennifer Sills09:11
Ironically on the night that my sweet Juul sleeps. I am up at night. I haven't been up at night for 13 years. That is how old Jules is. She is the source of most of my nights being sleepless. Jules is my daughter. She's a budding chef, spicy, clever, determined, and full of. She also has ochre Chung, neural developmental syndrome, also known as OCN, D S O C and D S affects every aspect of her life.
She is nonverbal. She has autism significant global developmental delay, cognitive impairment self-injurious behavior. That is a heartbreaking, any severely disrupted sleeping. Most days she wakes between one 30 and 4:30 AM. And if she naps in the afternoon, which all goodness, we pray. She doesn't, she sometimes falls asleep at 6:30 AM the following morning.
When Juul is in my belly, I couldn't sleep at night after tossing and turning at 4:00 AM. I would amusingly think that my insomnia was my body's way of preparing for a newborn little did I know that it would be preparing me for a life with Jules? When Juul was born, she had 10 fingers, 10 toes, and was considered a healthy baby.
As I stared at my precious girl, I imagine the life we would have together, the things we would do together, the college she would go to or what job she might have. However, we soon learn that seemingly healthy babies may have genetic conditions lurking in their genes that will change their lives for.
For her first seven years of life, I did what I caution parents from doing now. I did the parents version of drunk dial. I Google searched into the late hours of the night. I would spend many late hours in a dark room with the only light coming from the computer screen, staring back at me, searching and praying.
I would find the answers, a name of a syndrome that explained all the symptoms. My sweet Jules was experiencing. Someone once said that when your eyelids are heavy, your thoughts are heavier. This rings so true for me. Night is the loneliest place on the planet. In the middle of the night, when everyone is sleeping, it's eerily quiet.
The world feels like it's stopped. And it seemed like the only movement, our thoughts racing in my head, nighttime has been some of the loneliest times of my life. In 2016, we've finally received a call with an answer. Our search was finally over our sleepless nights were finally behind us or so we thought Jules was the sixth in the world to be diagnosed with OCN D S when Jules was diagnosed the late night, Google searches beginning.
However they were short-lived as to our dismay, we discovered that basically nothing was known about OCN. Yes, there was no foundation, no website, no community, no support, no information. And no one was studying OCN. S the only information available was a single publication identifying OCM. I was an English major.
I thought, how hard can it be to read a publication? Well, this was my first lesson in rare disease. 1 0 1, just because you have a diagnosis doesn't mean you have all the answers. I also learned that, uh, it's the worst that my parents were, right. My English degree was worthless. As I sat down to read the only information available I saw there were words in the line with a period at the end to make sentences, but I had no idea what they were saying.
I had to look up every other word at that moment. I knew we had to do better for my jewels and our committee. Nighttime isn't as lonely as we have found over 190 families worldwide effected bio sand. Yes. When I'm up at night with my sweet jewels or working on the foundation, there is great comfort in knowing that my rare disease community is in this with me.
It is comforting to know. But there are also parents who are suffering from crushing fatigue that no amount of coffee could ever fix, or parents who also play the nap. These are the parents who planned a nap each day to give them the strength to push forward. Only define 9:00 PM. Roll around with no nap insight.
It is now 3:48 AM. And as I have these bonus hours up at night, I want my sweet Jules to know a few things. Juul. I wanted more hours in the day. So you gave me night. You have given me more than you will ever know. You have given me great purpose. You are the most authentic being. I know you are pure magic.
You have also given me the gift of perspective, but for you, I would be a smug, a whole parent who thought that if a parent was struggling, it was because they were doing it. Quote, unquote, wrong. So thank you. I often listened to this Beatle song that reminds me of you, and it goes, and for the audience, I'm not a singer Blackbird singing in the dead of night.
Take these broken wings and learn to fly all your life. You were only waiting for this moment to arise. Juul. You are my black. I am going to fix your broken wings, your broken jeans. So you can soar. I will have as many sleepless nights as there are days that I live fighting for you and loving you. Good night, my speaker girl.
Effie Parks15:30
Here's a story from Charlene sun rugby mama to Juno and founder of stxbp1.
Charlene Son Rigby15:35
I've always been an idol in college that meant countless hours of aimless yet eminently satisfying, hanging out with friends after college. That meant an easy entree into life in the startup world. Of course, still peppered with late night, social adventures and mischief. My parents were also night ELLs.
My mom was a chemist and my dad was a chemical engineer. I remember my dad checking on computer simulations late at night. And my mom reading technical papers into the wee hours. I prided myself on sleeping five or six hours a night. There was so much to do after I had kids. Nighttime became this peaceful, quiet time where I could finally really focus on.
I got my best thinking work, my best creative work done in the deep unhurried hours of the night. When my daughter Juno was diagnosed with STX BP, one disorder in 2016 Knight became something else after Juno's diagnosis. The nebulous worry that had been floating around in the back of my mind was front and center.
Like many rare disease parents. I ended up spending nights for racially reading, whatever few papers were out there highlighting so much of a papers texts that when I went back, it was completely unclear why I had highlighted a specific sentence or paragraph. I was fortunate to have been a bio major in college, but in the 20 years, since I had graduated, things had really advanced.
I struggled to understand, and I got excited by ideas. I got really excited about a paper proposing that a protein inhibitor could be used to treat STX BP one haplo insufficiency, meaning where not enough STX BP one is being produced. The paper was theoretical. It proposed a possible mechanism, a possible how, but it gave me hope.
I started contacting the few STX BP one researchers. I found, I Googled STX BP one countless times seeing the same little information was out there. And then I would repeat the exercise a few days later, nights, unhurried hours. We're now hurting. I became driven by urgency to help my sweet little girl driven by fear of the future for her.
And at the same time, driven by optimism and a belief that science could help that science would have. We started the STX BP one foundation in 2017. My co-founders and I were United by the belief that as our tagline says, science plus love equals cure. As we built the foundation nights alone, became interspersed with virtual work groups and shared projects nights also featured.
Do you know, sometimes wakes up in the middle of the night, which can be so hard when I've just gone to bed at midnight or 1:00 AM. When I hear her, I will lie in bed, completely motionless, almost holding my breath, willing for it, not to be real or for her to fall back asleep. But when Juna wakes up in the middle of the night, she is unable to go back to bed.
Do you know, is nonverbal. And she isn't able to tell us why she would. If she had a bad dream, if she's too cold or too warm, or if she's constipated, she can't go back to bed. So my husband or I lie with her and try to convince her to go back to sleep. This usually results in her pulling hair and poking and the parent giving up on sleep.
We give her an iPad and we let her watch hours of Disney movies until the sun rise. Her night waking comes in waves. And right now I'm really happy that we're in a quiet period. So I'm not too terribly bleary-eyed these days. In fact, I've been experimenting with getting seven hours of sleep a night. It feels so long and luxurious.
So it turns out. I'm more effective at working. When I get more sleep, that's probably been obvious to most people from an early age, but not to this night owl who still loves the night and still has so much to learn.
Effie Parks19:58
Here's a story from Sunita. Malapati where mama with cacna1a foundation sleep.
Sunitha Malapati20:05
When the baby sleeps.
Effie Parks20:06
I was told after I had my first child, I was never very good at following that advice. Not only because my son did not seem to sleep very much, but also because it was the only time I could manage to cross anything off my never ending to do list. After a few months at home with my son, I went back to work as an attorney in a big law firm between all the pumping sessions, first-year pediatrician appointments and daycare closures.
It was nearly impossible to get in all the hours I needed to build during the. So every evening after dinner and finishing my son's bedtime routine, I would stay up at night and get back to work. It was my second shift little did I know that I would still be working a second shift four years after leaving my job at the law firm and having my second child a daughter instead of billing hours.
Now I spend my second shift trying to figure out how we're going to cure my daughter's rare. For two and a half years, we traveled from specialist to specialist searching for a reason to explain my daughter's abnormal eye movements, her febrile seizures and her missed developmental milestones. We were told, wait and see, she might grow out of it.
Test after invasive tests yielded no answers until we nearly had to beg to get her genetic testing. Before her third birthday, over a telehealth appointment, I will never forget two months into the COVID-19 pandemic. On a Friday of mother's day weekend, I was told that she had a CAC related disorder. My world changed forever, like most rare disease parents.
When we received my daughter's diagnosis. We were given very little insight into what this meant for her life, besides the devastating fact that there are no specific treatment options available. I have since learned that children with CAC and a struggle with cognitive impairment, speech movement, balance coordination, and vision, they have complex medical conditions, including epilepsy, ataxia, and stroke, like events called hemiplegic migraines.
They are often in and out of the hospital trying to manage medical crises after the initial shock and grief of the diagnosis settled in. I knew I had to turn my despair into hope and action. And so I got back to work and the Katonah one a foundation became my second shift as a rare disease patient advocacy organization.
The foundation is focused on finding treatments and cures for the CAC Noni community by building a collaborative network of patients, families. Clinicians and scientists each day after all the doctor's appointments are over physical therapy or occupational therapy sessions are completed. And arguments with insurance companies have ended in frustration long after my husband and kids have gone to bed.
You can find me up at night on my laptop, nose to the grindstone, helping to run the foundation. I'm up at night, reading CAC, no one AI related research papers. Helping newly diagnosed families navigate what capita one a means for their child, reaching out to clinicians and researchers about how we should work together to push science forward and having 9:00 PM board meetings to strategize about how we are going to fundraise for life-changing research.
We operate with a mother's urgency and we have a lot of work to do. The only time I can get things done, uninterrupted is at night in the darkness. I can focus on our roadmap to. I have time to think about how we will achieve a world free of the debilitating effects of catatonia related disorders. One where my daughter and all of their children with Kochno enabled thrive until we find a cure for
Sunitha Malapati23:58
I will not be able to sleep when the baby sleeps.
Effie Parks24:02
I hope you've been enjoying this podcast. If you like, what you hear, please share this show with your people and please make sure to rate and review it on iTunes or wherever you get your podcasts. You can also head over to Instagram, Facebook, and Twitter, to connect with me and stay updated on the show.
If you're interested in sharing your story, or if you have anything you would like to contribute, please submit it to my website@effieparks.com. Thank you so much for listening to the show and for supporting me along the way. I appreciate y'all so much. I don't know what kind of day you're having, but if you need a little pick me up, Ford's got you.