A collection of voicemails from rare disease parents who relate to you situation.
[00:00:03] I am Effie Parks. Welcome to Once Upon A Gene, a podcast.
[00:00:08] 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 genetics and drones and other types of disabilities can feel pretty isolating.
[00:00:21] 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,
[00:00:37] 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 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,
[00:01:02] and clinicians impacted by rare and chronic diseases. Visit Bloodstream Media.com to learn more.
[00:01:09] Hello! Oh my gosh, thank you so much for tuning in. It means so much to me to have you as a friend, as a listener, as a member of the community,
[00:01:17] as someone making change or just receiving because that's what you need to right now. I really appreciate it, and I'm so grateful for you.
[00:01:25] To be able to do this podcast seriously, it is just one of the most purpose driven flights of my life.
[00:01:33] I made an episode a long time ago, episode number 65 called The Beginner's Guide to Rare Disease.
[00:01:39] I've decided that I should probably update that every once in a while, add some new bits to it, and continue to re-circulate it.
[00:01:47] I always post it when random posts from people in Facebook groups, because there's nothing nothing like those beginning days, especially when you don't have anyone yet.
[00:01:59] You know, the beginning of the moment when the doctor sits you down and delivers the news or even before when you know something is wrong and you're waiting for it.
[00:02:09] The moment replays in our minds for days and weeks and years it's seared in. I think we can all vividly remember sitting in the office reading it on our my chart unfortunately for some of you getting the phone call.
[00:02:22] I remember white walls and an uncomfortable chair and a sterile smelling room with dust on the baseboards. I remember the doctor's words seem to just blur together as my mind raced.
[00:02:37] I heard the diagnosis. I did not process it. It felt surreal. It was a bad dream that I couldn't wake up from the emotions that follow.
[00:02:47] That beginning are they're really hard to describe. It's a mix of fear and sadness and overwhelm and uncertainty.
[00:02:54] It's scary. When you feel all the things and we all process it differently and add our own pace and some parents go numb others break down.
[00:03:04] Others just get to work. There's no right way, there's no wrong way.
[00:03:09] There's staying stuck, which I would maybe only say could be the wrong ways if you stay stuck for the rest of your life.
[00:03:16] But man those first few hours and days and weeks and months are all about sheer survival as you're trying to process it and what it means for your kid and your family and your future.
[00:03:27] If that's where you are right now, I hope you know it's so perfectly normal to feel lost and you don't have to have any of the answers right away.
[00:03:36] In fact, you don't have to have any answers at all. You can just take and that is one of the best things about this show is that you can just take.
[00:03:45] You don't have to give anything back. You don't have to be responsible for returning the favor. You don't have to answer the text or a call or say thank you.
[00:03:55] You can just take. So I grabbed some of the voice mails that you guys left me. Thank you so much.
[00:04:01] If you like this episode, I'll do some more. But I grabbed some voice mails from some parents who've been there and they've left you a little message.
[00:04:09] Again, especially if you're in the beginning, the man if you need a little pep talk or a reminder, you're never too far along in this journey to have these important reminders,
[00:04:18] Especially when someone is in a good place and they have the bandwidth to reflect and give back. I hope you enjoy these.
[00:04:24] Hi, everyone. I've been on this rare parenting journey for almost nine years. My beautiful daughter is nine and a half and I would say that in the beginning I tried to do it all.
[00:04:38] That looked like finding all the therapies in a specialist who would see us researching endless amounts of time throughout each day.
[00:04:48] And looking back, I know it's sort of a purpose, but I'm so much happier in the space. I'm in now, which is I've learned that my daughter is exactly who she's supposed to be.
[00:05:01] And although we continue to enhance her life as much as we possibly can physically, I have accepted so much more.
[00:05:10] And our new reality looks like finding community, finding friends that understand and become your lifeline resources that help not only myself, but my entire family community is truly the thing that has saved me.
[00:05:30] So if you're a new parent starting out, find your tribe. I promise you you're not alone.
[00:05:37] Hi, this is Hannah, mom to Austin who has LCMD, a rare form of congenital muscular dystrophy. To newly diagnosed families, I'd say, wallow.
[00:05:47] Truly take some time to be just together, to adjust your new reality. Whatever that looks like don't lose hope because I know that you are going to look back in some amount of time and be so surprised at how far you've come, how much you've done, how adjusted you are and.
[00:06:11] It doesn't mean that things aren't hard, but you will grow and you can do hard things. You really can and just reach out to any of us anytime, whether you're in a dark place or happy place, reach out to me reach out to Fee reach out to anybody because this rare disease community is so supportive.
[00:06:36] And it's not a place anybody wants to be, but a place that is good to be if you are in our shoes. So welcome.
[00:06:46] Whenever my son was newly diagnosed, a genetic counselor recommended that I reach out by phone to another parent whose child had the same rare disease.
[00:06:56] At that time I was trapped in state of fear and anxiety over what this disease meant for our lives. I felt as though I were living under a dark cloud and I really stopped smiling and laughing altogether.
[00:07:10] So although I'm not a phone person, I call this mother. What she told me always stuck with me and I can still hear her voice in my mind. She said 95% of our days are good.
[00:07:22] What she meant was that although her child faced a serious diagnosis, most of their hours together were actually happy ones.
[00:07:31] How you frame life with a rare disease diagnosis is a choice. It is important not to dwell in the diagnosis but to live with joy and appreciation for the life you've been given.
[00:07:41] As challenges come along as they inevitably will, you can face them one at a time. But don't live in fear of them. Don't live your life in the shadows of illness. Don't define your children or yourselves as patients were permanently sick and incapacitated unable to live a meaningful life.
[00:08:00] To define yourselves as individuals who have a life to live and go live it.
[00:09:01] So that's why I always stress second and third opinions and do not stop until you are completely satisfied. And the last thing have a positive mindset. Yes, this is extremely hard and is extremely challenging at times.
[00:09:13] But if you go into things with a positive mindset, it will change your outlook and it will change the way that you hands all situations that are thrown at you.
[00:09:24] My name is James Griffin and I was diagnosed with sickle cell disease. One of the lessons my parents taught me early on was to educate myself on my disease.
[00:09:36] So that would be my advice to anyone receiving a rare disease diagnosis.
[00:09:42] It's to educate yourself and become an expert of your rare disease so that you understand what you're going through.
[00:09:50] And it can help eliminate the worry, some of the fear that you may be facing when dealing with your rare disease. I will also encourage you to find a support system.
[00:10:01] Having a support system is huge for anyone dealing with a rare disease. To have the community who you know that you can lean on in tough times, who can uplift you through those tough times is very important and helping you maintain your health and maintain your rare disease.
[00:10:18] And finally I would say seek out anyone else who is going through what you're going through because a lot of times we feel like we're alone and having a rare disease can't feel like you're alone.
[00:10:31] So when you have someone else who is going through what you're going through, it doesn't feel so overwhelming and you can find a strength and knowing that you're not alone and it can give you hope.
[00:10:42] And before I go, I would just say stay positive.
[00:10:47] Hang on to the good days and stay positive.
[00:10:52] When people ask me why I'm using a scooter or a walker, I usually give them the short answer.
[00:10:59] I have a genetic disorder called bat and disease.
[00:11:02] The bat and disease is a group of fatal genetic disorders. They're 13 types.
[00:11:09] The disorder affects the body's ability to get rid of waste so that they build up in cells all over the body.
[00:11:16] The buildup causes seizures, vision loss, problems with thinking and movement and eventually death. There's no cure for bat and disease.
[00:11:25] The decline is rapid and children with bat and disease will eventually be unable to feed themselves.
[00:11:32] Be a bedridden, be unable to see, be unable to talk and communicate with others and will unfortunately die because there's no cure.
[00:11:42] I have saline too.
[00:11:43] Doctors don't know why I didn't show any symptoms until I was in my 40s.
[00:11:48] I had genetic testing done in December 2021 and in May 2022, I was told that I had bat and disease.
[00:11:56] See LN2. I wish I could have been correctly diagnosed so I could have started the treatment sooner.
[00:12:02] When I can tell you is that you have to be the squeaky wheel, sometimes you're on advocate either for yourself or your loved one.
[00:12:10] And get out there and be a voice for whatever challenge you're going through.
[00:12:14] I didn't ask for a choose to have bat and disease but I choose to live in love life.
[00:12:19] Dear rare sibling, my name is Kara Friedman. My brother Jack had a rare disease called spinal muscular atrophy and he lived a happy and fairly healthy 26 years.
[00:12:29] When Jack was alive, I experienced many positive feelings like sincere joy riding on the back of his wheelchair and excitement when we got to experience along with gardens together as kids.
[00:12:40] But I also experienced many negative feelings like annoyance, anger and envy after comparing my family to the other quote normal families.
[00:12:51] What I said may sound relatable to you and maybe it doesn't, but that's okay.
[00:12:55] When it comes to rare siblings, there is no need for comparison.
[00:12:59] Siblings like you and I are from all different places in our lives. There is no use in comparing if we did or did not help to care take for our siblings.
[00:13:07] How we cope with our big feelings, how much of our lives we shared with others.
[00:13:12] The list would go on and on. But even if we did compare, there would never be two of the same story.
[00:13:18] What you're feeling, experiencing and learning is as normal as it can be for you.
[00:13:23] And just as a reminder, it is okay to not be okay with your version of quote normal.
[00:13:29] Don't let yourself get wrapped up in the water and remind yourself that comparison is the thief of joy.
[00:13:35] Just remember there's always another rare sibling in your corner, with compassion, respect and empathy.
[00:13:43] Remember all the things you were afraid of. Remember you were scared that Emily would never walk and never talk.
[00:13:51] Remember when the doctors always said she had cerebral palsy, and you thought it was BS because her delivery was picture perfect.
[00:13:58] Fan that car score of 10, there was no issues during pregnancy.
[00:14:02] Do you remember as she missed milestones and you were freaking out and doctors thought you were overreacting?
[00:14:08] Remember when you thought your greatest fear would be if she never talked to you and wasn't able to survive.
[00:14:13] And that you couldn't imagine changing diapers for the rest of your life and taking care of her for the rest of your life.
[00:14:20] And then about scared you were of all those things happening.
[00:14:23] I'm here to tell you Emily turned 24 on Saturday and all of those things came true.
[00:14:29] And you know what? You've survived it. You survived and Emily has a diagnosis now.
[00:14:36] Science caught up to your hunches and your guesses and we now know that Emily has TBR1 syndrome.
[00:14:43] And life is hard and it's challenging, but it's beautiful and Emily's perfect and she doesn't need to change.
[00:14:53] And now there are advocates and people coming along that are changing the world for her.
[00:14:58] I let her changing to fit into the world.
[00:15:01] In the National at Shea, even if she will never be able to say it and you've survived your toughest days.
[00:15:07] My name is Becky Benson and my daughter, Misselia, had Tase X disease.
[00:15:12] Coping with rare disease can be incredibly isolating.
[00:15:15] For me, connecting with the community of those who understood who were walking in our shoes made all the difference.
[00:15:23] I hand to hold on to guiding us out of the darkness and showing us we could get to the other side even after the loss of our child gave me hope.
[00:15:35] One of those community members told me not to hold myself hostage tomorrow to decisions made today.
[00:15:41] This helped me to know it was okay to change my mind, to navigate a care plan that looked different than I expected that my child's changing needs could guide me as time went on.
[00:15:54] My advice for anyone beginning this journey is to give yourself grace.
[00:15:59] No decision you make will be wrong. You will do the best you can with the information you have at the time and every decision you make will be one made from love.
[00:16:11] Hello, once upon a gene family, this is Angela Davis. I would say that but I wish I would have known upon diagnosis of stiperson syndrome was that first fall would take 25 years of a diagnostic Odyssey of me working diligently to get myself in front of the right specialist at the right time and I wish I had been told the disease was progressive. I wish I had been told there was no cure at all.
[00:16:38] I wish I had been told that death and paralysis are common. I wish I have had told all these things because I was told here is a here's a bottle of pills and you know good luck which is no kind of strategy or help.
[00:16:54] My husband and I have had to figure it all out on our own and just just like so many of our rare community. I've had to take to the internet and find you all and find podcasts like once upon a gene and people like Effie Parks to connect and know that we're not alone. We're all fighting for every little bit of help we can get every little bit of information we can act upon and help ourselves and our families.
[00:17:23] That's what I wish I would have known. Thank you once upon a gene.
[00:18:22] Not even considering that approach.
[00:18:23] I think it's a very important thing to do with the research. Don't let that stop here because you can be the one that makes that happen.
[00:18:30] If you're finding yourself in this place that you never thought you would be in just now you are going to see the other side.
[00:18:35] During those early months I wish I would have known that while our new normal wasn't what we envisioned it would become our normal.
[00:18:42] Now for grant and for our family weekly infusion day is just part of our week for us. It is just what we do and what grant has always known.
[00:18:48] Lately infusion day has been full of games laughter and occasional brotherly argument and a whole lot of playing. When he was first diagnosed I wish I would have known that I would as they say find make people.
[00:18:58] We weren't the only ones facing this diagnosis and in fact there was a whole pompe community that we would become a part of.
[00:19:04] I'm so thankful for those people and I'm now on text threats with them and they're my immediate go to when it comes to pompe or life in general. I love them dearly and I'm so thankful to them.
[00:19:12] They make this journey all the better. I think the other thing that comes to mind about the early days of his diagnosis is being open to accepting help.
[00:19:20] I will never forget that early on my friend Kelly messaged me and said starting now you're not cooking or worrying about dinner on infusion days.
[00:19:26] That dinner that started to be provided on infusion days made that day so much more doable.
[00:19:32] After I made it through that initial first year there is a quote that has been true for me and how I have dealt with grant diagnosis and just wife sometimes.
[00:19:39] Cheryl Strade said you don't have a right to the car. You believe you should have been doubt you have an obligation to play the hell out of the once you're holding.
[00:19:47] Well it may not feel like it today. You my friends can also play the hell out of the cards you're holding.
[00:19:53] My wisdom for folk starting out on this journey is feel however you are feeling, you don't need to feel better or cheer up if it's hard.
[00:20:06] Feel however you're feeling and when you want to feel even better and make this easier for yourself connect with other families.
[00:20:16] So many of us in the rare disease community don't know anyone who shares their child's disability and that can be scary but connect with as many families as you can.
[00:20:29] And they will have so many similar issues challenges ideas brilliant victories to share that will make this easier for you.
[00:20:41] And learn about disability from disabled people. I was getting it wrong for years. I will be learning forever and when we learn about disability from disabled people.
[00:20:53] We are getting real information and that makes everything easier.
[00:20:58] The days leading up to my son, city and in B1 diagnosis are kind of hazy but I'll never forget what his physical therapist has said to me.
[00:21:08] One day I was in the room we had just gone through his MRI testing to see what was going on it came back clear.
[00:21:13] And if their perspective is looking at me and said, what if there is something wrong with your son? That's not going to change the way you love him the way you look at him.
[00:21:21] Nothing is going to change so stop worrying about it so much for this moment in time until we know what's going on.
[00:21:27] At the time I was really frustrated and kind of upset because I just wanted an answer and I felt like no one could give it to me even the people who were seeing my child daily and working with him so hard.
[00:21:40] But now that we're almost two years into the diagnosis, I finally understand why my therapist said those words.
[00:21:47] We don't look at Ezra any differently. We love him just the same if not more now that we know what's going on.
[00:21:53] We he is the light of our life and even though he has challenges that he faces, he is the most sweetest and happiest boy.
[00:22:01] One thing that I wish I could go back and change was being more present in the moment and not worrying so much on the future.
[00:22:08] As the future is going to be what it is. My best advice for you is to just love your children.
[00:22:14] Make sure they have a community of people who love them and continue to navigate life as best as you can with the resources that are provided to you.
[00:22:23] This journey is not easy and is not for the faint of heart. I am Jennifer Sills from CSNK to A1 Foundation and my daughter Jules was six in the world to be diagnosed with ochre chung, neurodevelopmental syndrome and ultra-rear genetic condition affecting her entire life.
[00:22:41] One thing I wish I had done sooner is write down all of the instones. All of the smallest victory she had because as rare disease parents we spend countless hours recounting to doctors,
[00:22:52] professionals, teachers and providers about all the things our children can't do or that are hard for them.
[00:23:00] If you start to compile the list it will be short at first but it will be shockingly long soon enough.
[00:23:08] And this list will be important on some of the darkest days because grieving a rare disease diagnosis and then when it means to raise someone rare
[00:23:16] and to grieve the life you thought you would have and the life that you thought your children would have is a lifelong journey.
[00:23:23] And I think if we can build this book not only of medical records and IEPs, if we could build a separate book with instones we could learn to find the glimmers of hope through the darkest of storms.
[00:23:35] I hope you've been enjoying this podcast. If you like what you hear please share the show with your people and please make sure to rate and review on iTunes or wherever you get your podcasts.
[00:23:47] You can also head over to Instagram, Facebook and Twitter to connect with me and stay updated on the show.
[00:23:53] 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 feparks.com.
[00:24:02] Thank you so much for listening to the show and for supporting me along the way. I appreciate you all so much.
[00:24:08] I don't know what kind of day you're having but if you need a little pick me up, for it's got you.