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...

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 wa...

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...

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 ri...

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. Amy holds a Master’s degree in Transpersonal Counseling Psychology, and her work is deeply rooted in the belief that we a...

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 spe...

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 tha...

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, M...

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...

After a typical pregnancy and birth, Noah came into the world with no cause for concern. That all changed at around 3 weeks old when Noah started to get sick. He developed continuous repertory issues like RSV and pneumonia. He continued getting sick every month and at 19 months old he was scheduled to have his first set of ear tubes placed but was quickly stopped after the doctors found that he ha...

Brady Murray is the President and Founder of a non-profit called RODS Heroes which helps orphan children who have unique challenges find their forever family. In this episode Brady shares one particular orphan named Johan. Johan is a sweet, quiet-natured fifteen year old boy who has been in an orphanage since he was 6 years old and will be aging out of adoption by the end of November 2023. Brady h...

At 36 weeks Jen couldn’t feel her baby moving and went to the nearest hospital. During the ultrasound they found out that her babies heart rate had started to decline and Jen was rushed into an emergency csection. Hazel was delivered and soon after found out that she had Esophageal atresia, which was later repaired at Boston Children's Hospital using the Foker Process. •••••••••••••••••••  Wit...

Robin and her husband had a beautiful baby girl named McKenna who was quickly diagnosed with 22q. It was recommended by the genetics team to have their entire family tested. After a few months the results came back that her husband and other daughter's test came back negative but Robin tested positive for 22q. She had been living her who life with this deletion syndrome and had no idea. Throug...

Trauma is a response to an intensely stressful event(s) or situations. The effects can be long-lasting, but healing is possible. For todays episode I invited Psychotherapist, Larry Shushansky to answer all of our questions around trauma. With over 45 years as a physiotherapist Larry has helped hundreds of individuals process and navigate past traumatic experiences. Within the 22q community trauma...

Rachel Hibbard's daughter Genevieve inspired her to write a children's novel/coloring book called "Just Jen: Living With Invisible Differences." Gen's first year of life with 22q nearly killed her and her mother due to many complex medical needs. Rachel recalls what happened and shared how she and her daughter have been working on their healing journey from the medical trauma...

What is 22q with genetic scientist, Dr. Shruti Mitkus, the Director of Genetic Education and Navigation. Global Genes Website 22q11.2 deletion syndrome (22q) can affect any system of the body, however most children with 22q have heart, immune, learning, speech, and/or behavior difficulties. Each person with 22q has their own unique needs, and interdisciplinary team care is the best management appr...

We discuss all the resources that Global Genes could provide for 22q families with Mary Morlino, who is the rare concierge patient services manager. Global Genes was born to connect, empower and inspire the rare disease community. Global Genes provides hope for the more than 400 million people affected by rare disease around the globe. We fulfill our mission by helping patients find and build comm...

The Dragonfly Forest specialty camp is a traditional overnight program for kids with Autism, 22q, Asthma, Sickle Cell Disease, and Hemophilia. We aim to make camp a reality for as many families as possible. By partnering with parents and experts in the medical field, we can provide accommodations for our campers that allow them to be successful at camp. Dragonfly Forest aims to provide a culture o...

Adam Hoge is known for his incredible coverage of the Chicago Bears and has also covered baseball and football in Chicago since 2008. He can also be heard on the Hoge and Jahns Podcast , but today we are going to be discussing something other then sports. Adam will be sharing his son, James's 22q journey. James was delivered premature at 31 weeks, while his family was on vacation. After delive...

On August 21, 2017 most of the United States remembers the solar eclipse that occurred that day but for Shannon Swiger and her husband they remember that day for a different reason. That was the day they received an email confirming that their baby had 22q. From what Shannon shared in this episode, receiving that email felt like a solar eclipse on their lives. A shadow that was casted over them, t...

Kapil's son, Niam was diagnosed with 22q in utero following the 20 week ultrasound after doctors noted a heart abnormality. Since birth, Niam has bravely faced many procedures, checkups, and illnesses, including two open heart surgeries, four angioplasties, a g-tube, and ear tubes. Throughout Niam’s challenges and victories, Kapil has been one of his fiercest advocates and has begun focusing o...

In 1990 Judi was sent from one doctor to another, trying to figure out why her beautiful baby girl, Chelsea was getting sick all the time. It wasn't until she went to DC to meet with a geneticist that she got the answer she was looking for. She was waiting in the exam room and a man walked past her door, stoped and then continued walking past. That same man came back a few moments later with a...

Since the day Elijah was born his mom Sarah didn't feel that his breathing was typical. She shared her concerns with the medical staff but they told her not to worry and that Elijah's breathing was normal. Sarah knew in her gut that something was off and with each new diagnose her gut feeling became stronger and stronger. After 18 months of finding different diagnosis Elijah was finally se...

In July of 2021, Summerly and her husband sat in  ⁠Izzy’s hospital room for 18 days⁠  feeling overwhelmed, scared, sad, anxious, nervous, guilty, confused, tired, numb, and unheard, but in September, as they drove to one of her outpatient appointments, they decided to turn those negative feelings into something positive. So… a conversation became an idea, and they created a website ⁠ www.my22qt.co...

Aine Lawlor enjoys spending time with her dog honey, playing Tenpin, writing poetry, reading, crushing it at the gym and staying connected to her 22q community. She lives in Ireland with her mom and today shares her perspective of what it is like living with 22q. •••••••••••••••••••  Within this episode we discussed: Special Olympics Ireland - TenPin Bowling Shannon O'Keefe - Professional  Bow...