Smiles Included: Navigating through life with our rare disease superheroes Emily Beauclair

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.

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.org



Please 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.