[00:00:03] I'm Effie Parks. Welcome to Once Upon A Gene, the podcast.
[00:00:07] This is a place I created for us to connect and share the stories of our not-so-typical lives.
[00:00:14] Raising kids who are born with rare genetic syndromes and other types of disabilities can feel pretty isolating.
[00:00:20] What I know for sure is that when we can hear the triumphs and challenges from others who get it,
[00:00:26] 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,
[00:00:36] and I'll take all the help I can get.
[00:00:43] Once Upon A Gene is proud to be part of Bloodstream Media.
[00:00:47] Living in a family affected by rare and chronic illness can be isolating, and sometimes the best medicine is
[00:00:53] connecting to the voices of people who share your experience.
[00:00:56] This is why Bloodstream Media produces podcast, blogs, and other forms of content for patients, families, and clinicians
[00:01:03] impacted by rare and chronic diseases.
[00:01:06] Visit bloodstreammedia.com to learn more.
[00:01:08] Hello there, and welcome to the show.
[00:01:10] This is Once Upon A Gene, and I'm your host Effie Parks, and I'm so so so glad that you're here with me today.
[00:01:16] You know if you're ever just wondering like, gosh, Once Upon A Gene has helped me so much.
[00:01:20] I wish there was something that I could do. You can. You can share this show.
[00:01:25] You can share this episode. You just tell someone, email it to them, post it on your social media,
[00:01:31] have someone pull their phone out in front of you and show them how to subscribe to the podcast.
[00:01:36] That's gonna even get you extra points in heaven.
[00:01:39] So please share this show with your people, and especially this show when you see a family in the very beginning or
[00:01:46] who is struggling with the idea of having a genetic test.
[00:01:50] Please share this episode with them because that's what I'm going to talk about today.
[00:01:54] You know there's a lot of things that we see online, you know, common quips, age-old sayings,
[00:01:58] just stuff that rolls out of people's mouths because it's just the way that it is, and they don't necessarily
[00:02:05] think about what they say before they say it. It's totally normal. We all do that.
[00:02:10] But today I want to talk about one of those sayings. Getting a diagnosis or having a label won't change a thing.
[00:02:17] It won't change how much I love my child, and it won't change anything that we're doing. You've heard that one, right?
[00:02:23] You've probably even been told that.
[00:02:25] You might have even said it to yourself or to someone that you love.
[00:02:30] I can tell you how inaccurate that statement is and how important a genetic diagnosis actually is.
[00:02:37] Of course, you're gonna have immense love for your child, and you might not change much about your day-to-day routine,
[00:02:43] but it is not just that. It won't change anything.
[00:02:47] It's about what it will change, and what doors will open, and what
[00:02:52] possibilities will unfold, because having a genetic diagnosis brings so much more into your life that many don't even realize.
[00:03:00] When I was in the beginning, I remember sitting there getting that life-changing,
[00:03:05] terrible, tragic news, and it was overwhelming.
[00:03:09] There was a flood of emotions,
[00:03:12] fear, and
[00:03:15] to this day continued uncertainty in many ways. That moment was just so intense and such a blur.
[00:03:21] I felt completely lost and isolated,
[00:03:25] grappling with the unknown.
[00:03:26] But one of the choices I made,
[00:03:29] especially when I realized how disconnected I had become, was that I had to find my people, and I had to make a change,
[00:03:36] and I had to do something.
[00:03:38] Connecting with others became one of the most transformational things that ever happened to me.
[00:03:43] Community is so vital. When you receive a genetic diagnosis,
[00:03:48] you're not just given a label.
[00:03:50] You are welcomed into a new family of people from all over the world who understand exactly what you're going through.
[00:03:57] These connections are lifelines. They offer support,
[00:04:01] advice, and the comfort of knowing that you're not alone.
[00:04:05] It's like finding the brightest light in the darkest night. With a genetic diagnosis,
[00:04:09] you also have the chance to contribute to research, to fund research.
[00:04:14] This is where the power of our collective stories comes into play also. By participating in studies or clinical trials,
[00:04:22] sending off your blood, or filling out all those registry questionnaires,
[00:04:26] we're helping to push forward the science that could one day lead to treatments or even cures.
[00:04:31] It's an empowering feeling to know that our experiences and our journeys are part of something much bigger.
[00:04:38] One of the most crucial aspects of receiving a genetic diagnosis is the relief that it can bring.
[00:04:45] I constantly see
[00:04:47] parents online or have met them in person who carry the absolute heaviest burdens of guilt,
[00:04:53] thinking that they did something wrong, that it was their fault because they were a carrier or whatever it might be.
[00:04:59] But here's the truth. It's not your fault. You didn't do anything wrong, and you couldn't have known otherwise.
[00:05:08] This realization can lift a tremendous weight off your shoulders,
[00:05:12] freeing you from guilt and self-blame. A genetic diagnosis also brings precision care.
[00:05:19] It can change the medications you use,
[00:05:21] help you compare symptoms among other kids, and talk about side effects of certain drugs.
[00:05:26] I'm going to tell you a big one. For example, in our CT and NB1 community,
[00:05:31] maybe two, many of our children have been diagnosed with a rare eye disorder called fever.
[00:05:38] FEVR.
[00:05:39] Familial Exudative Vitreo Retinopathy.
[00:05:42] I'm sure I did not pronounce that correctly. This condition, which has event- it will eventually cause total vision loss, is
[00:05:49] only detectable through a specific test called Fluorescein Angiography.
[00:05:55] Without knowing Ford's genetic disorder and the other kids with CT and NB1 who have fever,
[00:06:01] we might not have ever discovered it in time. And thanks to the information
[00:06:06] from being connected and having a genetic diagnosis,
[00:06:10] we were able to hopefully prevent him from being blind one day.
[00:06:14] He went in many times and I asked them to check this and they told me he does not have it because it's inherited.
[00:06:22] It's not from a genetic diagnosis.
[00:06:24] We had to advocate heavily as a community and we got an amazing doctor from CHOP, Dr.
[00:06:29] Scholes on our side who made a total presentation that families like mine can bring into the office and say,
[00:06:34] I want you to check again
[00:06:35] and this is the only way you can check.
[00:06:38] Because I did also have doctors who quote-unquote checked by looking in Ford's eyes when again
[00:06:43] I found out later that can only be done by
[00:06:46] this dye that you inject and he has to be under anesthesia for it for you to see, to then know that yes
[00:06:53] their retina is maybe detaching and that it needs to be lasered and you have to have
[00:06:57] annual checkups to see if it is progressing and to continue to laser it. It is a big deal.
[00:07:03] Nobody would have looked.
[00:07:05] Nobody would have known and he might have lost his vision if we didn't find out.
[00:07:09] Another thing that our kids have, not all of them, is a tethered cord.
[00:07:13] None of our kids just get an MRI across their whole body.
[00:07:16] They usually just give kids like ours an MRI on their brain.
[00:07:19] Nobody knows to ask unless they have a genetic diagnosis and they're connected with other families who have the same
[00:07:26] disorder or who have
[00:07:29] learnings from it or who know what questions to ask and what to look for and how to advocate for it.
[00:07:34] These are big huge deals, sometimes even bigger depending on your disease.
[00:07:41] Knowing a genetic diagnosis matters so much in the clinic and
[00:07:45] advocating for the health and the precision care of your child.
[00:07:49] A genetic diagnosis also inspires action.
[00:07:52] It fuels a fire within you to do more and to love deeper and to advocate louder.
[00:07:58] I have personally experienced this through the podcast a million times and beyond outside of it.
[00:08:05] I have met parents who were inspired from this show to start foundations, to build communities,
[00:08:12] to launch other podcasts, to write books, to create accessible playgrounds.
[00:08:17] One mom, you know who she is, Tracy. She even went back to school to become a
[00:08:22] neuroscientist so she could figure out why her daughter was having thousands of seizures a day.
[00:08:27] The possibilities are endless and it is an entirely new life that you can walk into with your eyes wide open
[00:08:35] when you have an answer. When Ford was diagnosed, it was like the world opened up.
[00:08:40] Suddenly, you know after after the really dark blur of doom that I had to go through,
[00:08:46] suddenly I had a direction and I have a purpose and I still feel that way every single day with so much new energy.
[00:08:53] And while this is still very hard, and I know it will continue to be very hard, and the love never changes,
[00:09:00] I believe the love evolves. We as parents gain a luxurious amount of reverence for our kids.
[00:09:07] We don't sweat the small things as much. We pick our battles and we choose our boundaries.
[00:09:13] Among so many other things, it changes so much about the family dynamic and it gives us clarity.
[00:09:20] What a genetic diagnosis brings is
[00:09:23] priceless.
[00:09:24] Every new family that joins our community starts where we once did. They feel the same fear and the same uncertainty.
[00:09:32] And it's our responsibility to remember where we came from and to make this place better for them.
[00:09:38] We need to reach out, share our stories, and offer our support.
[00:09:42] We need to be the light that guides them through the darkness, just as someone did for us once before.
[00:09:49] So to all the parents out there, if you're on the brink of receiving a genetic diagnosis,
[00:09:55] or if you're just in the thick of it,
[00:09:58] know this.
[00:09:59] It's a powerful,
[00:10:01] transformative step.
[00:10:03] Embrace it when you're ready.
[00:10:05] Lean into the community.
[00:10:07] Contribute to the research and
[00:10:10] let that guilt shed off you.
[00:10:13] Use the knowledge to provide the best care possible and to let it inspire you to take bold actions,
[00:10:20] even if it's just loving more and loving deeper at home.
[00:10:24] Thank you so much for joining me today. If you have any thoughts or
[00:10:30] experiences that you'd like to share, please send me a message.
[00:10:32] And if you have anything to add to this list,
[00:10:35] because I always forget everything when I'm making a bullet point of why a diagnosis matters,
[00:10:40] please send it over to me and we will add it to the master list.
[00:10:45] Thank you so much for joining me today, and I'll see you next time. Take care.
[00:10:49] I hope you've been enjoying this podcast. If you like what you hear,
[00:10:53] please share this show with your people and please make sure to rate and review on iTunes or wherever you get your podcasts.
[00:11:00] You can also head over to Instagram, Facebook and Twitter to connect with me and stay updated on the show.
[00:11:06] If you're interested in sharing your story or if you have anything you would like to contribute,
[00:11:11] please submit it to my website at effyparks.com
[00:11:15] Thank you so much for listening to the show and for supporting me along the way. I appreciate y'all so much.
[00:11:20] I don't know what kind of day you're having, but if you need a little pick-me-up, Ford's got you.