Smiles Included: Navigating through life with our rare disease 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.org

Please 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.org

[email protected]

Please 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.org
https://www.youtube.com/watch?v=62YEMALYh5s
Facebook: WDR26-Related Diagnosis
Instagram: Skrabandeardoff


You can reach Emily Beauclair at:
[email protected]
Instagram: SmilesIncludedPodcast

Please 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.  

[email protected]

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

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 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 [email protected] 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.