Smiles Included: Navigating through life with our rare disease superheroes

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 friendships.  Laura provides great advice for what has worked for her and Duncan along the way.  It's a unique perspective on the joys, challenges, and hopes of raising a child with special needs.  Please visit SKDEAS.org for more information about Skraban-Deardorff and how you can support our superheroes.

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, that have become a part of their lives. We also step into the shoes of the Jones family as they maneuver through the school system and IEP process, shedding light on the nuances that come with educating a child with special needs.  Eddy Jones provides a father's prospective and the importance of embracing vulnerability to support his family.  And we have some lighthearted content as the Jones Family prepares for the 1st Annual Travis' Troops Golf Tournament on October 15, 2023 in Plainview, Massachussets.   Any support for the event is appreciated and they share some insight into organizing similar events to raise awareness and funds for rare disease.  Find out more at skdeas.org/events or email travistroops@skdeas.orgPlease visit SKDEAS.org for more information about Skraban-Deardorff and how you can support our superheroes.

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 children feel about each other, until now. In this podcast, Ali and I will have an honest and open conversation about our kids and their relationship, and we hope to share some insights and experiences that might resonate with other parents who are navigating similar situations.Thank you for tuning in, and I hope you enjoy the podcast!Please visit SKDEAS.org for more information about Skraban-Deardorff and how you can support our superheroes.

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 questioning if we are doing too much or not enough.   I think a lot of parents will relate to our conversation.   Please visit SKDEAS.org for more information about Skraban-Deardorff and how you can support our superheroes.

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.  So I’m doing something a bit different on the podcast today and featuring two guests that have recorded themselves answering the question “What Does Rare Disease Mean to You.”  First, we will start with Andrew, who is a SKDEAS patient and we are proud to have him giving a voice to this genetic difference.  Next, we have Kristen Worrell, who has a young daughter impacted by SKDEAS and she beautifully tells us what rare means to her and how grateful she is for her daughter.  I’ve never had her on this podcast before, but she must join me in the future to tell more of her story.  I also took this assignment and i flipped into writing a letter to our first neurologist.  There is a proverb that is still widely taught in medical school that goes something like “when you hear hoofbeats, think horses, not zebras.”  That hurts our rare community and often delays diagnoses and dismisses parents that know there is something going wrong with their child.  I wear a zebra brooch to remind myself to never let someone dismiss me again and to find the doctors that think zebras. Please visit SKDEAS.org for more information about Skraban-Deardorff and how you can support our superheroes.

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 SKDEAS.   A huge thank you to Andrew for giving a voice to our superheroes with this conversation!Please visit SKDEAS.org for more information about Skraban-Deardorff and how you can support our superheroes.

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 Yelena and Andrew fill me with hope for our SKDEAS kids.  Please visit SKDEAS.org for more information about Skraban-Deardorff and how you can support our superheroes.

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 podcast.  It's definitely intense and requires a lot from the caregivers, but it was successful for her daughter and I hope it can be successful for others.  Good luck and let me know how it goes!!Reference:Toilet Training in Less Than a Dayby Nathan Azrin and Richard FoxxPlease visit SKDEAS.org for more information about Skraban-Deardorff and how you can support our superheroes.

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 visit SKDEAS.org for more information about Skraban-Deardorff and how you can support our superheroes.

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.orgsmilesincludedpodcast@gmail.comPlease visit SKDEAS.org for more information about Skraban-Deardorff and how you can support our superheroes.

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 diagnosis, so I hope her talking about her struggles to get to the positive place can benefit a lot of parents in our community. Important Links:SKDEAS.orghttps://www.youtube.com/watch?v=62YEMALYh5sFacebook: WDR26-Related DiagnosisInstagram: SkrabandeardoffYou can reach Emily Beauclair at:SmilesIncludedPodcast@gmail.comInstagram: SmilesIncludedPodcastPlease visit SKDEAS.org for more information about Skraban-Deardorff and how you can support our superheroes.

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 great stories and gives great advice - including the importance of caring for ourselves so we can better advocate for our children.Skraban-Deardoff Syndrome is a mouthful!  The Skraban-Deardoff Syndrome Foundation has developed the acronym of "SKDEAS"...making it a bit easier the talk about the syndrome.Thank you for listening and for supporting the passion project to drive awareness for SKDEAS.  smilesincludedpodcast@gmail.comPlease visit SKDEAS.org for more information about Skraban-Deardorff and how you can support our superheroes.

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 inspiration…for other parents going through similar experiences.  Cecilia even tells us a joke in this podcast!If you are diagnosed with Skraban-Deardorff Syndrome or you are the caregiver of a person with Skraban-Deardorff Syndrome, please connect with us!   Our community can currently be found on Facebook at “WDR26-Related Diagnoses”. You will need to request to join our private group - we will be happy to support you and your family.Please visit SKDEAS.org for more information about Skraban-Deardorff and how you can support our superheroes.

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 technology to potentially help all the kids diagnosed with Skraban-Deardorff Syndrome.  If you are interested in participating in the Rarebase research, please visit their website or reach out to me at SmilesIncludedPodcast@gmail.com and I can share a document from Cynthia.Other allies in the genetic research fight mentioned in this podcast are:National Organization for Rare Disorders (rarediseases.org)Global Genes (globalgenes.org)Please visit SKDEAS.org for more information about Skraban-Deardorff and how you can support our superheroes.

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-Deardorff Syndrome. Research into rare diseases often brings a mix of apprehension and optimism. Here, we tackle the details of study participation, addressing the eligibility concerns of parents while highlighting the transformative benefits for their children.  This conversation is an invitation to view research not as a daunting task, but as a means to glean a deeper understanding of your child's needs, offering strategic insights for the present and a beacon of hope for future medical advancements.As we explore the ways in which this study could transform care for those with WDR26 mutations, we invite eligible participants to join this collective effort.  Please reach out to Katie Huba to discuss:khuba@jcu.edu.  You can also find more information at skdeas.org/research.Please visit SKDEAS.org for more information about Skraban-Deardorff and how you can support our superheroes.