Smiles Included: Navigating through life with our rare disease superheroes

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Smiles Included: Navigating through life with our rare disease superheroes

Emily Beauclair

16 episodes

8 months ago

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 b...

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Personal Journals,

Society & Culture

All content for Smiles Included: Navigating through life with our rare disease superheroes is the property of Emily Beauclair and is served directly from their servers with no modification, redirects, or rehosting. The podcast is not affiliated with or endorsed by Podjoint in any way.

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 b...

Show more...

Personal Journals,

Society & Culture

Episodes (16/16)

Smiles Included: Navigating through life with our rare disease superheroes

Cynthia Lang: Inspiring Progress in SKDEAS Research & Treatments

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 b...

1 year ago

28 minutes

Smiles Included: Navigating through life with our rare disease superheroes

Dr. Thomas Frazier and Katie Huba: Groundbreaking research to understand the cognitive and behavioral patterns of WDR26 patients

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...

1 year ago

32 minutes

Smiles Included: Navigating through life with our rare disease superheroes

Laura Johansen: Triumphs, Challenges, and Hope in Raising a Rare Child

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 frien...

1 year ago

1 hour 1 minute

Smiles Included: Navigating through life with our rare disease superheroes

Jackie and Eddy Jones: A rare disease journey of hope, resilience and vulnerability.....and a golf tournament!

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, t...

2 years ago

1 hour 5 minutes

Smiles Included: Navigating through life with our rare disease superheroes

Allison Pyer: Unraveling the Complexities of the Neurotypical-Neurodiverse Connection

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 ch...

2 years ago

50 minutes

Smiles Included: Navigating through life with our rare disease superheroes

Kristen Worrell: Navigating the uncertainty of the SKDEAS spectrum

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...

2 years ago

56 minutes

Smiles Included: Navigating through life with our rare disease superheroes

Rare Disease Day 2023

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...

2 years ago

13 minutes

Smiles Included: Navigating through life with our rare disease superheroes

Andrew Houser: A SKDEAS superhero talks to us about what the diagnosis has meant to him and impacted his life

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...

2 years ago

36 minutes

Smiles Included: Navigating through life with our rare disease superheroes

Yelena House: Reminding us that raising a SKDEAS kid is a marathon, not a sprint, and our kids will constantly surprise us

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 ...

3 years ago

43 minutes

Smiles Included: Navigating through life with our rare disease superheroes

Sherri Blaik: Helpful tips for success at potty training our rare children

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 po...

3 years ago

14 minutes

Smiles Included: Navigating through life with our rare disease superheroes

Sherri Blaik: Demystifying the ABA experience and other therapies that have benefitted her SKDEAS daughter

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.org Plea...

3 years ago

42 minutes

Smiles Included: Navigating through life with our rare disease superheroes

Sebrina Harrell: A glimpse into the life of a SKDEAS teenager, including managing seizures and impacts on the parents

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. skdea...

3 years ago

36 minutes

Smiles Included: Navigating through life with our rare disease superheroes

Bailey Wallace: The sibling experience and being at peace with the diagnosis.

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...

3 years ago

45 minutes

Smiles Included: Navigating through life with our rare disease superheroes

Lisa Patterson: Raising a SKDEAS teenager and the importance of self-care

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...

3 years ago

43 minutes

Smiles Included: Navigating through life with our rare disease superheroes

Emily Gerst: A conversation about the impact of the Skraban-Deardorff diagnosis and advocating for our children

SMILES INCLUDED: EPISODE 2 Emily 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 so...

3 years ago

55 minutes

Smiles Included: Navigating through life with our rare disease superheroes

Cynthia Lang: Skraban-Deardorff mom working to find a treatment for her son

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 ed...

3 years ago

39 minutes