22q Podcast

In this powerful episode, we sit down with Kayla, an early childhood educator from Colorado Springs, as she bravely shares her journey through unimaginable loss and unwavering love. After marrying her husband while he was in the service, Kayla was excited to start a family — but life had other plans.

Her first daughter, Lakyn, was born 11 weeks early and diagnosed with a rare and severe congenital heart defect associated with 22q11.2 deletion syndrome — a condition Kayla had never heard of, despite her background working with children with special needs. After 45 days filled with strength, milestones, and heartbreak, Kayla and her husband were forced to make the devastating decision to say goodbye.

The heartbreak continued — a second pregnancy ended in stillbirth, and a third was clouded by fear and uncertainty. Today, Kayla is the proud mother of a healthy little girl named Paige and the founder of Lakyn’s Legacy Foundation, a nonprofit supporting Colorado families navigating NICU stays and genetic diagnoses, created in honor of Lakyn’s life.

Kayla opens up about grief, trauma, faith, and the many ways families cope with loss. Her story is one of resilience, advocacy, and the incredible power of turning pain into purpose.

Learn more: www.lakynslegacyfoundation.org

This episode was recorded on October 24, 2023

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Within this episode we discussed:

If you would like to contact the 22q Podcast with any questions, comments or if you are interested in being on this podcast email Becky at [email protected]. Don't forget to subscribe and share this podcast to help raise awareness about 22q. And never forget 22q family that YOU are not alone.

⁠Instagram - @22q.podcast⁠

⁠Facebook - @22qpodcast⁠

⁠YouTube - @22qpodcast⁠

Email - [email protected]

#22qpodcast

#22q

#22qdeletion

#22q112deletionsyndrome

#22qdeletionsyndrome

#deletionsyndrome

#22qcommunity

#22qnotalone

#22qfamily

#DiGeorgeSyndrome

#digeorgesyndrome

#22qdiagnosis

When Brittney welcomed her son Gavin into the world in 2017, something didn’t feel right—though he cried, there was no sound. Despite reassurances, her gut told her otherwise. What followed was a harrowing yet inspiring journey: Gavin couldn’t eat, struggled to nurse, and vomited constantly for years. Brittney spent sleepless nights sitting upright, holding on to hope. Finally, at age 3½, Gavin was diagnosed with 22q deletion syndrome.

This episode is a raw and powerful story of maternal instinct, medical mystery, and unwavering love. Join us as Brittney shares her incredible journey navigating the unknown and fighting for answers—because sometimes, a mother just knows.

This episode was recorded on October 23, 2023

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Within this episode we discussed:

• • Submucous cleft palate (SMCP) is a congenital condition where the muscles of the soft palate don't fuse properly, while the outer lining of the palate (mucosa) appears intact.

  • The Declarative Language Handbook by Linda Murphy

  • The Coregulation Handbook by Linday Murphy

  • Book Creator https://bookcreator.com/
    

  • Alternative communication device or "talker" - also useful for social stories: Touchchat https://touchchatapp.com/

    
    

    Text to Speech iPad app: Read-Write

    https://apps.apple.com/us/app/read-write/id934749270

    
    

    For writing practice / and useful for kiddo's with fine motor challenges: Letter School

    https://apps.apple.com/us/app/letterschool-learn-to-write/id481067676
    

  • Hornby Island Vancouver, British Columbia Canada

If you would like to contact the 22q Podcast with any questions, comments or if you are interested in being on this podcast email Becky at [email protected]. Don't forget to subscribe and share this podcast to help raise awareness about 22q. And never forget 22q family that YOU are not alone.

⁠Instagram - @22q.podcast⁠

⁠Facebook - @22qpodcast⁠

⁠YouTube - @22qpodcast⁠

Email - [email protected]

#22qpodcast

#22q

#22qdeletion

#22q112deletionsyndrome

#22qdeletionsyndrome

#deletionsyndrome

#22qcommunity

#22qnotalone

#22qfamily

#DiGeorgeSyndrome

#digeorgesyndrome

#22qdiagnosis

Imagine being told by a physician that your 2 year old daughter will probably never finish school, be able to drive, have a career and will possibly be institutionalized for schizophrenia. Back in 1994 this is what Cathy was told about her daughter Nadia during a routine doctor's appointment. They had just received the confirmation that Nadia was diagnosed with 22q and within this episode you will hear about Cathy and Nadia’s 22q journey. Stories like Nadia’s can help raise awareness about the potential in every person, no matter what challenges they may face. Cathy and Nadia’s story also sheds light on the importance of parental advocacy, the strength of support networks, and the role of early intervention and therapy. Nadia is now in her 30’s. She has a career as a photojournalist for her local paper and I am happy to report that her physician’s prediction back in 1994 was completely wrong. 

This episode was recorded on October 16, 2023

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Within this episode we discussed:

If you would like to contact the 22q Podcast with any questions, comments or if you are interested in being on this podcast email Becky at [email protected]. Don't forget to subscribe and share this podcast to help raise awareness about 22q. And never forget 22q family that YOU are not alone.

⁠Instagram - @22q.podcast⁠

⁠Facebook - @22qpodcast⁠

⁠YouTube - @22qpodcast⁠

Email - [email protected]

#22qpodcast

#22q

#22qdeletion

#22q112deletionsyndrome

#22qdeletionsyndrome

#deletionsyndrome

#22qcommunity

#22qnotalone

#22qfamily

#DiGeorgeSyndrome

#digeorgesyndrome

#22qdiagnosis

Kevin's journey is one filled with immense challenges, incredible resilience, and love. From his very first moments of life, it was clear that his path would not be an easy one. Born at 36 weeks, Kevin entered the world under difficult circumstances, with both his mother Rahnesha and himself facing drops in blood pressure that required an emergency C-section.

The family was already aware of the risks associated with his pregnancy due to his known heart complications. But when they learned that Kevin had a congenital heart defect, specifically Tetralogy of Fallot with Pulmonary Atresia and MAPCAs (Major Aortopulmonary Collaterals), they were faced with the sobering reality of the battles their newborn would need to fight. Tetralogy of Fallot is a combination of four heart defects that affect blood flow, and pulmonary atresia (where the pulmonary valve doesn’t form properly) complicates this further, leading to insufficient oxygen in the blood. MAPCAs refer to abnormal blood vessels that develop to compensate for a blocked or absent pulmonary artery.

Despite the overwhelming nature of this diagnosis, Kevin’s parents refused to let the odds dictate his future. They sought out the best medical care available, traveling all the way to California to consult with a leading heart surgeon who specializes in complex congenital heart conditions. This decision to go the extra mile for Kevin’s treatment proved to be pivotal, as it ensured he received the very best care from a team of doctors who were highly experienced in performing life-saving surgeries for babies with conditions like Kevin’s.

What followed were likely some of the most difficult days for Kevin’s family—long hospital stays, surgeries, and ongoing medical interventions. Yet, Kevin's resilience, along with the support of his loving family, gave them the strength to face each new hurdle.

But Kevin’s journey didn’t end with heart surgery. Along with the heart condition, Kevin was later diagnosed with 22q11.2 deletion syndrome. Kevin’s 22q journey is a testament to the power of love, the importance of expert care, and the unyielding strength of a family that refuses to give up on their child, no matter how difficult the road ahead may be. His story is not only one of survival but also of growth, hope, and an unbreakable bond between him and his family, who continue to stand by him through every challenge.

This episode was recorded on October 4, 2023

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Within this episode we discussed:

If you would like to contact the 22q Podcast with any questions, comments or if you are interested on being on this podcast email Becky at [email protected]. Don't forget to subscribe and share this podcast to help raise awareness about 22q. And never forget 22q family that YOU are not alone.

⁠Instagram - @22q.podcast⁠

⁠Facebook - @22qpodcast⁠

⁠YouTube - @22qpodcast⁠

Email - [email protected]

#22qpodcast

#22q

#22qdeletion

#22q112deletionsyndrome

#22qdeletionsyndrome

#deletionsyndrome

#22qcommunity

#22qnotalone

#22qfamily

#DiGeorgeSyndrome

#digeorgesyndrome

#22qdiagnosis

Amy Jolley, a mother, yoga teacher, Social-Emotional Learning and Mindfulness Educator, and a deeply experienced child and family therapist. Amy is the founder of The Wellness Collective Women and Children, where she focuses on emotional well-being and mindfulness for families.

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#22q

#22qdeletion

#22q112deletionsyndrome

#22qdeletionsyndrome

#deletionsyndrome

#22qcommunity

#22qnotalone

#22qfamily

#DiGeorgeSyndrome

#digeorgesyndrome

#22qdiagnosis

Jill Strauss’s journey as a mother to her daughter, Vada, is a powerful story of resilience, love, and determination. From the moment Vada was born, Jill knew something wasn’t quite right. At just five months old, Vada's medical challenges became apparent, and Jill embarked on a search for answers. This search led her down many paths, filled with medical tests, specialists, and countless hours spent researching her daughter’s symptoms.

It wasn’t until later that the mystery was finally solved when Vada underwent a microarray test, which confirmed that she had 22q deletion syndrome. For Jill, learning that Vada had 22q deletion syndrome was a bittersweet moment — while it provided a diagnosis and an explanation for many of the challenges Vada had faced, it also marked the beginning of an entirely new journey. It meant navigating the complexities of the condition, understanding its many facets, and finding support and resources for both Vada and herself.

Throughout this journey, Jill has faced numerous obstacles. One of the most significant challenges has been Vada’s psychogenic polydipsia — a condition that causes her to drink excessive amounts of water, which can lead to serious health risks if not carefully managed. Along with this, Vada has a heart defect that requires ongoing monitoring and care. Sensory challenges have also been a part of Vada’s daily life, affecting everything from her ability to process certain textures and sounds to her response to various sensory inputs in her environment.

Being a “22q mom” isn’t always easy, and Jill has openly shared her experiences to help others understand the reality of living with a child who has such a rare genetic condition. For Jill, it's not just about the medical journey — it’s about understanding the emotional and psychological toll these challenges can take. It's about finding strength in the face of uncertainty, advocating fiercely for her daughter, and creating a supportive environment that allows Vada to thrive despite the many hurdles she faces.

Through it all, Jill has learned that being a “22q mom” means being adaptable, resourceful, and incredibly patient. She’s learned to celebrate Vada’s victories, no matter how small, and to embrace the beauty and joy that her daughter brings into the world, even on the tough days. Jill’s openness about her journey serves as a beacon for other families facing similar challenges, offering them a sense of community, hope, and understanding.

For Jill, the journey is ongoing, but every step is a testament to the deep love she has for her daughter and her unwavering commitment to helping Vada live her best life.

This episode was recorded on May 26, 2023

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Within this episode we discussed:

If you would like to contact the 22q Podcast with any questions, comments or if you are interested on being on this podcast email Becky at [email protected]. Don't forget to subscribe and share this podcast to help raise awareness about 22q. And never forget 22q family that YOU are not alone.

⁠Instagram - @22q.podcast⁠

⁠Facebook - @22qpodcast⁠

⁠YouTube - @22qpodcast⁠

Email - [email protected]

#22qpodcast

Abby is a fraternal twin and within her first few months of life her mom Amy could tell that something was a little different with Abby but she didn't know what. She had speech delays, gross motor delays but just didn't know what it could be. Then at the age of 7 Abby was going to get her tonsils removed with the doctor, who happed to have studied 22q, was able to look at Abby and tell that she had 22q. That is when she was sent for genetic testing which then confirmed his hypothesis.

This episode was recorded on May 17, 2023

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Within this episode we discussed:

If you would like to contact the 22q Podcast with any questions, comments or if you are interested on being on this podcast email Becky at [email protected]. Don't forget to subscribe and share this podcast to help raise awareness about 22q. And never forget 22q family that YOU are not alone.

⁠Instagram - @22q.podcast⁠

⁠Facebook - @22qpodcast⁠

⁠YouTube - @22qpodcast⁠

Email - [email protected]

#22qpodcast

When Mikey was younger he didn't know he even had 22q until his open heart surgery at the age of six. He started to notice that he had health issues that his friends and classmates didn't have to contend with. Mikey never let his diagnosis hold him back and continued to follow his passion for music, especially playing the drums. Picking up his first set of drum sticks at the age of four, Mikey realized he had a superpower. He was able to play the drums by ear and did not have to read sheet music. His passion for drums landed him spot in his current band named Hills Block View. Check out the links below to listen.

This episode was recorded on May 8, 2023

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Within this episode we discussed:

If you would like to contact the 22q Podcast with any questions, comments or if you are interested on being on this podcast email Becky at [email protected]. Don't forget to subscribe and share this podcast to help raise awareness about 22q. And never forget 22q family that YOU are not alone.

Instagram - @22q.podcast

Facebook - @22qpodcast

YouTube - @22qpodcast

Email - [email protected]

#22qpodcast

Shelby is an adult living with 22q and has a passion for sewing. She began sewing at the age of 11 and has been sewing every since. Making quilts for individuals with 22q and mailing them across the country. She has made over 43 quilts to date and doesn't intend on stopping any time soon.

Her mom, Stacy also shared how scary and challenging Shelby's first few years of life were. Shelby had genetic testing done around the age of one but nothing came back positive. So at two and half years old, she sent to a clef and pallet team, who were able to diagnose her and test her for 22q. Stacy remembers receiving that phone call that confirming that her daughter had 22q. As she hung up the phone she felt numb and crushed all at once. She knew she had to learn Shelby and what this new diagnosis meant for her baby girl.

Links:

Shelby's Stories FB: https://www.facebook.com/groups/450865518418577/?ref=share_group_link

22q Postcard Swap: https://www.facebook.com/groups/270932664985684/?ref=share_group_link

Amazon Wish List: https://www.amazon.com/hz/wishlist/ls/1K2FHPHP6UIZM?ref_=wl_share

Walmart Wish List: https://www.walmart.com/registry/ER/f426d3b8-347b-42b8-8a9d-5240a9b99bb8

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Within this episode we discussed:

If you would like to contact the 22q Podcast with any questions, comments or if you are interested on being on this podcast email Becky at [email protected]. Don't forget to subscribe and share this podcast to help raise awareness about 22q. And never forget 22q family that YOU are not alone.

Instagram - @22q.podcast

Facebook - @22qpodcast

Email - [email protected]

#22qpodcast