A Rare Collection - Rare Disease Storytelling with Kyle Bryant, Jennifer Siedman, Liz Morris and Ashley Fortney Point

[00:00:03] I'm Effie Parks. Welcome to Once Upon A Gene, the podcast. This is a place I created for us to connect and share the stories of our not-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, and feel a lot less alone.

[00:00:31] 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.

[00:00:56] 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, and welcome to the show. Thank you so much for listening. I'm glad you're here. Once a month, I release this extra special episode in a series I'm calling A Rare Collection. It features three, or in this case, four people from the rare disease community, each telling a true story with the same theme.

[00:01:26] I'm super excited to present the fourth episode in the storytelling series. I've always been moved by storytelling, and I believe there's so much power in them for both the listener and the storyteller. I'm the luckiest podcast ever in that this is what I get to do for fun, passion, and purpose. The theme for the four stories you're about to hear today is Because of You. The storytellers have the utmost freedom to be creative and take the theme wherever their hearts desire.

[00:01:53] And today I lined up four people whose podcasts, blogs, or general posts on social media have really touched me over the years. I hope you enjoy the show. Here's a story from Kyle Bryant, who's living with Friedrich's ataxia. I was diagnosed with Friedrich's ataxia when I was 17 in 1998.

[00:02:13] It's a disease that affects balance and coordination and has other symptoms such as scoliosis, vision loss, hearing loss, and life-shortening heart complications. It's caused by a repeat in the DNA at the GAA code. And that causes the lack of a protein called Friedrich's ataxia.

[00:02:39] I had never even heard of Friedrich's ataxia until I was diagnosed. I didn't pay much attention to it when I was 17. I ignored the fact that my future was going to be much different than what I had imagined. After a few years, I decided it was time to take action. I decided I wanted to do a cross-country bike ride. That's kind of a crazy idea.

[00:03:09] And one of the hard things about it was selling the idea to my parents. I respect my parents so much. And so presenting an insane idea like this was a difficult one. Here's a passage from my book, Shifting into High Gear. We arrived at the restaurant before the dinner rush.

[00:03:36] My mother walked ahead while I stumbled to the table. I ordered the chicken and shrimp pasta. She ordered the prime rib. We sat in comfortable silence and buttered our bread. When we began to eat, I started my pitch. I've been going on long bike rides lately, I said. Yes, that ride in Napa was 100 miles.

[00:04:05] Yep, I've been researching people who ride trikes across the country. She moved her eyes from the plate but kept her head down, still chewing. I think I could do that, I said. Right across the country, that is. She stopped chewing. Her shoulder sank, but her brow remained raised. I kept talking. You know, to raise awareness and money for ataxia research.

[00:04:34] I tried to sound unselfish for the ataxia community, which was true in part. But at this point, my decision was about me. Silence. More chewing. She looked down at her plate and shuffled potatoes with her fork.

[00:04:54] Around us, diners continued their animated conversations about the quality of the food or baseball or grades or local politics. You remember how Mark Bugucki and Norm Simpson offered to fund a cross-country ride, I said. Yes, I didn't think you were serious. I could ride to next year's NAF meeting in Memphis, I said, starting to blab.

[00:05:22] It would be a 2,500 mile ride. I could visit Graceland. I'd ride 50 miles a day. Cole said he might be interested and we could sleep in bed in my truck. My goal is to raise $30,000. More silence. She thought I was nuts. This diagnosis had gone to my head.

[00:05:48] Why couldn't I just be happy with my all things considered fortunate situation? Why didn't I grasp how much additional stress this might place upon my family? When we suffer, we forget the burden our loved ones carry.

[00:06:07] We leave little room to consider that our chaotic lives now share the same geography as our parents, our siblings, and those we love. I considered this when my mother raised her head, looked me in the eye, and said, I have one stipulation. I'm coming with you.

[00:06:33] After dinner, my mom went home and pitched the idea to my dad. Well, he thinks he's going to ride across the country six months from now. Okay, my dad said. End of conversation. He didn't seem interested.

[00:06:49] My dad is a born in Montana man, a raised in Oroville, California man, a hunting and fishing kind of man, a 30-year insurance man whose father was an insurance man. He's a man whose Spanish career managing risks not taking them. So, a bike ride across the country? Forget it.

[00:07:16] I imagine there were times in my dad's life when he wanted to reach beyond his grasp, but he held himself back out of obligation. He built a career, raised a family, did the right thing. Then, when I was diagnosed, his world collapsed. In the mornings, he would sit with his newspaper and coffee at the table.

[00:07:40] The words blurred on the page as he thought about all the hopes and dreams for my life crushed. He felt hopeless. With his characteristic stoicism, he would manage to utter, Have a good day at school, bud. My disease had erased risk management. It erased neat and tidy. Our lives had changed. And he could no longer depend upon the known world.

[00:08:10] Perhaps if he ignored my mom's announcement, the reality might disappear. But it didn't. My mom waited a few weeks and told him again. Well, he's still talking about riding across the country. My dad, not a big talker, said, Okay. My mom mentioned the idea several more times over the course of several months,

[00:08:37] but he refused to register the information. She kept trying. I don't think it's a good idea for him to go alone, she said. Finally, she threw down the calling. Where do you think he's going to sleep? In a cornfield? She asked, flustered. So my dad went out and bought himself a bike. Here's a story from Jennifer Seidman, mother to Ben, who had San Filippo Syndrome.

[00:09:05] I could certainly tell you a story about all the ways my life has been shaped because I loved a little boy with a rare disease called San Filippo Syndrome. A boy who graced this earth for 17 years with a big lion roar of a laugh and a gentle heart. Who loved farms and tractors and baseball and chocolate donuts. I could tell you about how his quiet determination inspired a researcher to continue to pursue a treatment. And how today, because of it, there are other children with San Filippo whose future may look different from his.

[00:09:34] I could tell you that I know who I am today because I was his mother. My career, my friends, even my crazy pension for all things cow are because of my time with my son Ben. And this would be a great story. An epic one, really. But sitting here today in a piazza in Parma, Italy, I am inspired to tell you about another person who through her own determination modeled the skills I would need to be the best mother and advocate I could be to Ben.

[00:10:02] I'm going to tell you about my mother-in-law. Born to an immigrant mother and a New York City police officer, my mother-in-law's younger years were hard. Her parents divorced when she was very young, leaving her mother alone to care for two daughters during an era when the world was less kind to single mothers. My mother-in-law told me stories of eating mustard sandwiches, of being farmed out during the summers to be a housegirl, and growing up at the YMCA in Brooklyn.

[00:10:31] All of this made her a scrappy kid, one who ran track and got herself a scholarship to attend college. And while her path in life eventually became easier, the scrappiness never left her. I have to admit, when I first met my mother-in-law, I was a bit put off. You see, I was a pearl-wearing kind of girl back then, and my mother-in-law wore her rough edges with pride. Sometimes too much pride. And her penchant for using Italian phrases, spoken with a combination with a Brooklyn and Long Island accent,

[00:11:00] annoyed me. Until my son was diagnosed. It was then that I realized I was going to need some of her scrappy skills and Italian phrases myself. Her most used phrase scared the living daylights out of me, because I was afraid I might someday fall victim to it. While I'm not sure I ever heard my mother-in-law say the words, permese morto, my mother-in-law definitely took your dead to me seriously. Shortly after Ben's diagnosis,

[00:11:27] we had an appointment with the premier metabolic geneticist in Boston. I remember telling my mother-in-law about the appointment, how he had kissed me on the cheek while telling me to go home and simply love my child, and how he had refused to connect us to a researcher in another state because it had offended his expertise. Her response to me, he's dead to you. Find another doctor. At first, I thought my mother-in-law's response was a cop-out, a way not to face a truth or deal with an emotion. But slowly,

[00:11:57] mostly after a few other failed doctor experiences, I began to see that you're dead to me was a much needed mindset in a complicated situation. You see, captured in its intent is to say not only that you are casting off the person or situation, but also that you have complete confidence that you will find a better one. It was like she had suddenly passed along an advocacy 101 lesson to me. I had grown up accepting everything doctors,

[00:12:26] or really anyone in authority, said to be truth. It was novel for me to consider anything different. But I went on over the course of the next 15 years to employ this mindset as I advocated for Ben, casting off or correcting doctors whose recommendations did not jive with our care goals, or knowing when to take the IEP fight to the next level to assure his therapy goals were met. This mindset also helped my husband and I to never allow the answer, it can't be done,

[00:12:55] when advocating for research. My mother-in-law had modeled for us that if you move confidently away from barriers, anything can be done. My mother-in-law had another scrappy behavior that as a rare disease mom I needed to learn. It can be summed up in the phrase, Naccesita non allege, necessity knows no law. Her interpretation of this was sometimes very liberal, including the time that she asked me to fill my handbag with balls

[00:13:25] from an amusement center's ball pit so she could recreate one at home for my boys to play in. But more often, in a gentle way, she used this phrase to encourage me to think outside the box. When I faced something insurmountable with Ben, she let me know that sometimes breaking the rules wasn't bad, that sometimes it actually created a better solution. You might have a sense by now that my mother-in-law was a larger-than-life person.

[00:13:52] I think this is why she and Ben connected so well. He also had that go big or go home kind of attitude. My mother-in-law definitely subscribed to doing everything with gusto. She would organize the most lavish, sometimes ridiculously themed parties. She filled vacations with activities, mostly too many of them. She didn't just order cake. She always seemed to reach for the most chocolate,

[00:14:20] largest seven-layer piece she could find. She seemed to do so many things in her life with too much zest. I think this is because the scrappy girl in her knew that finding a way to celebrate, even if it was just with a piece of cake, made facing hardship better. And she was right. Rare parents know this. Because of her, I went on to plan elaborate birthday parties for all my children,

[00:14:48] and Christmas with special themed trees around their activities. I knew we would need these memories someday. But because she also modeled that even cherishing simple things with gusto, I was able to find joy in even the simplest things. She showed me that even when Ben could no longer speak his favorite word, the word that had always brought a smile to his face,

[00:15:16] when his lips could only just purse up tight into the shape of a bee as I chanted the word boobies, that I could feel a swell of appreciation in my heart and celebrate that simple accomplishment with gusto. My other children, Noah and Isabel, tease me these days, calling me Madre Suprema. I'm not really sure how I feel about that title. But here's the thing. I do know that because of you, Marie Seidman,

[00:15:45] I was able to be that for Ben. Here's a story from Liz Morris, mother to Colson, who had a mitochondrial disease. If you know anything about the Pacific Northwest, you know that it's abundantly beautiful. Seattle may be hyped as the hometown of Amazon and Microsoft, but us locals know its true appeal is in its wild spaces. Carkeek Park is one of my favorites. Located in North Seattle, it has all the organic healing powers I need. Trails through the lush woods,

[00:16:14] an expansive shoreline with built-in driftwood seating, and open green hills overlooking the Salish Sea and Olympic Mountains. My husband Jacob and I sat on the beach at Carkeek Park on a hazy August evening in 2016 and talked about our future. The sun was shrouded by smoke from distant wildfires as it began to set behind the mountains, beyond the sea. I dug my toes in the sand while we talked about the future we wanted for our first child, who I was six months pregnant with.

[00:16:43] I told Jacob that the thing I wanted most was to know what enough looked like when we had it. It's a nebulous idea, but one I felt strongly about. Months earlier, a colleague and I were passing time in an airport while we were traveling for work and somehow got on the topic of good advice. My colleague shared that his grandfather had told him to pay attention to the power of enough and that that advice had always stuck with him. It stuck with me too.

[00:17:13] I explained to Jacob that when we became parents, I didn't want to be driven by ambition or a focus on the next best thing for ourselves or our kid. We had worked hard to build a strong foundation from which to build a family in our education, our careers, and our relationship. I now wanted to work for a quiet life where our family felt whole because we loved each other well and prioritized our energy on things that held meaning.

[00:17:40] I didn't want to agonize about my career and if I should leave the workforce or be a stay-at-home mom. I didn't want to figure out a way to have it all. I knew that idea was a myth at best and at worst, a way for society to continue to place unrealistic demands on women. I didn't want to get sucked into the trivial parental posturing that seemed to be everywhere I looked. I didn't have strong feelings about breastfeeding or bottle feeding. I gave zero thought to what kind of schooling

[00:18:10] I wanted our kiddo to have, let alone what kind of job I wanted them to have. I did not dream about their wedding day or other milestones. We didn't even find out our child's sex because we wanted to meet them without any preconceived notions of who they might be. What I wanted most for our child was for them to develop a strong sense of self, for them to be compassionate and kind to others, and for them to be curious about the world around them. This may seem like ambivalence

[00:18:39] or naivete on my part, but I believe it was my intuition telling me the best way to love my child was to simply love them enough. Our son Colson brought magic into our lives when he was born in October 2016. He was tiny, tender, easy to soothe, and even easier to love. He was also very impacted by primary mitochondrial disease, a genetic disorder that severely compromised his body's ability to turn food into life-sustaining energy.

[00:19:09] Knowing what enough looked like took many forms during Colson's life. In his infancy, we agonized about the essentials. It was hard work to get enough calories into a body that rejected food, to get enough medicine into a body that desperately needed it, to get enough sleep to function. Around the time Colson turned two, we had the mechanics of his complex care largely dialed in. We had, to the fullest extent possible, accepted that we would likely outlive him

[00:19:39] and learned to thrive despite the heartache of that knowledge. While I had bent over backwards to optimize every single potential intervention during Colson's infancy, I now knew enough about him and his disease to say no to things that I didn't think would give him enough benefit. A provider recommended that he wear orthotics several hours a day, but because Colson was blind and supremely snugly, I knew that his feet, like his hands, were tools he used to explore his sensory environment. So I let him be barefoot most of the time.

[00:20:08] The memory of his foot tucked down to my thigh when we cuddled in his bed will live with me forever. Colson was supposed to spend an hour in his stander every day, but many days it was clear that he just wanted to rest so he didn't think twice about his stander. Instead of worrying that I wasn't doing enough with all the possible interventions, I directed my energy to making enough wonderful memories. We took Colson on adventures to the Grand Canyon and Santa Fe, to the Pacific Ocean and the Ho Rainforest.

[00:20:37] We hosted holiday gift exchanges with friends and game nights. We did spa days at home and simply basked in his being as much as possible. When Colson died in December 2020 at just over four years old, his body had had enough. Although we had the option to put him on life support, we knew that it would not be enough to get him back to his baseline. We trusted that we had loved him well enough while he was with us. Colson, in turn, gave us enough magic to last our lifetimes and enough insight

[00:21:07] to know that when we let him go. Here's a story from Ashley Fortney Point, whose son Davis is living with Kulin-DeVry's Syndrome. To my amazing son, Davis, we welcomed you into the world in 2014 after a difficult pregnancy filled with many hospitalizations and worry. You joined your older brother and made our family of three into four. From the start, the doctors thought there might be something different about you, but you were as cute as your brother.

[00:21:38] Throughout your seven years with us, we have grown so much. Because of you, we found our strength. After your many diagnoses related to Kulin-DeVry's Syndrome, including hypotonia, epilepsy, trachea malacia, strabismus, a femoral artery clot, and a stroke, you have continued to grow, learn, and prove that nothing can stop you. Because of you, we have found a wonderful, supportive community. During your repeated

[00:22:07] hospital admissions, we discovered an amazing network of family and friends who helped care for your brother and sister, brought us dinners, snacks, and emotional support. We were also welcomed to the larger community of families affected by KDVS and rare disease. Because of you, our family has grown together. Your older brother and younger sister can educate people on your struggles and syndrome and be your biggest cheerleaders. While you will always have normal sibling squabbles,

[00:22:38] they will not allow anyone to bring you down. Because of you, I found a way to ask for help. Help to care for your siblings. Help from the medical world. Help from family. Help from friends. My tough exterior has cracked a little and shown my vulnerable inside. But it is in those circumstances I ask for help. And there are many there to support you, me, and our family. Because of you,

[00:23:07] I have found kindness everywhere. Friends, family, strangers, doctors, nurses, techs, paramedics, firefighters, neighbors, teachers, therapists, and aides. Because of you, the world is a better place and we enjoy more laughter, more dancing, and a lot more singing. Love, mom. I hope you've been enjoying this podcast.

[00:23:35] 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 at effieparks.com. Thank you so much for listening to the show and for supporting me along the way. I appreciate you all so much.

[00:24:05] I don't know what kind of day you're having, but if you need a little pick-me-up, Ford's got you. you're having a nice time. Bye. Bye. Bye. Bye.