Claim OwnershipSmiles Included: Navigating through life with our rare disease superheroes
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© 2024 Smiles Included: Navigating through life with our rare disease superheroes
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As a mom of a son with Skraban-Deardorff Syndrome, a WDR26-related intellectual disability, I started listening to podcasts as a form of therapy and to get advice for how to navigate through the emotions and questions that come with having a child with a rare disease diagnosis. I started this podcast for those impacted by Skraban-Deardorff, and other rare diseases, as a way to share stories, ask and answer questions, get advice and have a platform where we can work to understand together what the diagnosis means and how we can support each other. The podcast will feature guests and experts across the rare disease spectrum that highlight how to bring out the best in our rare kids and showcase that we are not alone, but part of a great community of people supporting our rare children. If you have any topics you would like to be discussed on the show, or if you would like to be a guest, please reach out to me at SmilesIncludedPodcast@gmail.com.
16 Episodes
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Get ready for an inspiring episode of the Smiles Included Podcast as we welcome back Cynthia Lang. She returns with a heartfelt update on her ongoing quest to find a treatment for her son, Sebastian, and shares exciting news about the Skraban-Deardorff Syndrome Foundation's role in advancing this critical research.Discover how Transcripta Bio, formerly known as Rarebase, is making significant strides in rare disease research through innovative drug repurposing techniques. Cynthia’s journey be...
On this episode of Smiles Included, we sit with Laura Johansen, a resilient mother who shares her heartfelt experiences of raising her 21-year-old son, Duncan, who has only recently been diagnosed with Skraban-Deardorff. We dive into the early days marked by febrile seizures and delayed development and follow her journey through the complexities associated with this rare condition. We touch upon Duncan's speech development, school and sports experiences, family dynamic and friends...
Today, we're shining a light on a family's journey with their SKDEAS kid and the strength that it has carved out in them. Meet Jackie and Eddie Jones, the remarkable parents of Travis, who open their hearts to us about their path to diagnosis, the challenges they've faced, and the bonds they've built.We journey with Jackie and Eddie as they navigate the complexities surrounding Travis's diagnosis. We unpack the medical challenges, such as tracheomalacia and eosinophilic esophagitis, tha...
In today's podcast, I have the pleasure of interviewing my twin sister, Allison Pyer, whom I'm very close to. Both of us have two children each, and her youngest son and my SKDEAS son were born within two weeks of each other. As you can imagine, we had hoped that they would grow up together, reach their developmental milestones at the same time, and become the best of friends.However, life didn't unfold exactly as we had envisioned it, and we've never had an opportunity to discuss how our chi...
In this episode, I speak with Kristen Worrell. Kristen is the amazing mom of two young children, one of which has Skraban-Deardorff Syndrome. Kristen talks to us about what the diagnosis means for Lynnie, who truly is a little superhero. We talk a lot about the struggle we have with the unknown of the SKDEAS diagnosis due to the large spectrum of impact to our kids. We discussed all of the therapies that our children endure each week and how we are constantly questio...
This episode is being published on February 28th, otherwise known as Rare Disease Day. This is the day we speak a little louder than normal on behalf of those impacted by Skraban-Deardorff. There are over 300MM people impacted by rare diseases worldwide, with 72% of them being rare genetic diseases like SKDEAS. Sometimes we feel small and alone and this day pulls all rare families together to drive awareness of the importance of fighting for treatments and better lives. &nbs...
I'm so excited for this episode - we are hearing directly from one of our SKDEAS superheroes! Andrew Houser was diagnosed with Skraban-Deardorff two years ago at the age of 17 and he tells us what having a diagnosis means to him and the importance of the support of the SKDEAS community. Andrew was very open about his life and where he sees himself after he completes school. For many in our community, this is the first time hearing from someone that has been diagnosed with S...
Hi everyone! Please enjoy my conversation with Yelena House as she talks about her son, Andrew. Andrew went most of his life without a diagnosis and is now a thriving 19-year-old that is proud to be part of the Skraban-Deardorff community. Yelena shared lots of stories from Andrew's life and reminds us that we should never underestimate our rare kids since they are constantly surprising us with what they can achieve. I said many times throughout this conversation that ...
Help!!! I've been struggling with potty training and fearing what happens if I don't have success. It's a scary world out there for anyone with special needs and having access to a bathroom that will allow for the dignity of our family members is not easy to find. I hope this podcast will help some of our community.Sherri presented how she successfully potty trained her SKDEAS daughter at the 2022 Family Conference and was nice enough to walk us through it again for the podc...
For those of you at the family conference, you definitely remember meeting Allie as she led us in some of the dance parties. Her mom joins us for this latest podcast to discuss the therapies that have worked for Allie throughout the years, including ABA therapy. I've had a lot of questions about ABA, so Sherri walked me through what the therapy looked like for Allie and how it helped in overall development. I hope you find this interview as helpful as I did!skdeas.orgPlease ...
Sebrina Harrell is a supermom to 17-year-old John, who has two rare diagnoses - including Skraban-Deardoff Syndrome. Sebrina walks us through how John is impacted and what it means for his daily life. I peppered her with tons of questions, and she gives great insight into managing seizures, handling certain behaviors and overall development. I found it fascinating to hear her discuss John's journey as he gets older and how it impacts the lives of the parents as well.skdeas....
The family conference was two weeks ago and it was amazing! My theory is that siblings of special needs children are amazing human beings and my guest on the podcast, Bailey Wallace, proves that to be a fact. She has a daughter with SKDEAS, plus two other kids that are extremely supportive. She talks through the exhaustive job of balancing life with three kids and ensuring they all lead full lives. Bailey may be the most positive person i've spoken to about this diagn...
Do you ever wonder about the future of our recently diagnosed kids? Or what it what like for the parents that came before us that didn't have the benefit of a diagnosis for most of their child's life? Me too! Lisa Patterson is the mom to a 17-year-old daughter with Skraban-Deardoff Syndrome and she talks about what it was like to raise her daughter pre-diagnosis and the life of her daughter now, as well as where she sees her daughter in the future. She tells us some g...
SMILES INCLUDED: EPISODE 2Emily Gerst is the mom to Cecilia, an 8-year-old girl with Skraban-Deardorff Syndrome. We had a great conversation about the impact of getting the diagnosis and what it has meant for our children. Emily shared stories about Cecilia that highlighted the personality of the little girl behind the diagnosis and I shared some similar stories about Joe. We are just two rare mamas raising our kids as best we can and sharing some advice…and hopefully some i...
Welcome to our first podcast! Ignore the sound issues...we can only go up from here! But it will be hard to beat my first guest, Cynthia Lang. Cynthia is a mom to a son that was recently diagnosed with Skraban-Deardorff and we had a great conversation about what the diagnoses has meant for her family and how it has set her on a path to find a treatment for this rare disease. She has partnered with a company called Rarebase (rarebase.org) that is leveraging cutting edge...
Discover the groundbreaking strides being made in research on the WDR26 mutation as I talk to Dr. Thomas Frazier and his Research Coordinator, Katie Huba. This episode takes us through a new path towards understanding and improving the lives of those affected by rare genetic conditions. Dr. Frazier talks to us about his new study that leverages parent-reported questionnaires and innovative webcam assessments to unravel the cognitive and behavioral patterns in individuals with Skraban-De...
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