Denovo (Genetic But Not Inhereited) With Jenny From Texas Artwork

Rare Connection

Formerly Nutrition Equity, rare connection is an extension of the podcast to include all 10,000 rare conditions and not just those covered by the Medical Nutrition Equity Act. Some of the conditions may be the same, but I am trying to turn this into a learning experience for those in the medical feild, policy leaders, and those who are just interested in hearing about rare conditions and patient stories. Rare conditions are called zebras hence the zebra striped ribbon. More common conditions are called horses. Doctors tend to learn a lot about the common conditions, but rare conditions are a paragraph in a text book at best because the medical field isn't looking at the whole picture. Rare conditions when combined are actually bigger than cancer and strokes combined and if you have a rare condition you most likely have more than one or will develop another within your lifetime. As someone with a rare condition myself (Homocystinuria or HCU), know that having a rare condition can be very lonely. Thereis normally a phsycological aspect to any rare condition, and because of lack of understanding they often go undiagnosed or misdiagnosed which can cause serious health consequences or even death. If you are interested in talking and feel comfortable on camera please contact me at joanna.ball41@gmail.com. I have a visual version of this podcast on YouTube also under my cooking channel Rare Chef.

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Rare Connection

Denovo (Genetic But Not Inhereited) With Jenny From Texas

March 23, 2026 • Joanna • Season 6 • Episode 7

0:00 | 52:32

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What if two of your children were diagnosed with two completely different rare genetic conditions… on the same day?

In this episode of Rare Connection, I speak with Jenny, a mother of four, whose children Avery and Paxton were both diagnosed through whole exome sequencing with two separate rare diseases — Phelan-McDermid Syndrome and Tatton Brown Rahman Syndrome. Both conditions are genetic, but not inherited. They are de novo mutations, meaning they occurred for the first time in her children.

Avery, now 19, has Phelan-McDermid Syndrome, a condition often associated with autism, developmental delay, speech impairment, and hypotonia. Paxton, 12, has Tatton Brown Rahman Syndrome, a rare overgrowth and neurodevelopmental disorder linked to developmental differences, autism traits, and intellectual disability.

Jenny shares what it was like to receive both diagnoses at once, how her family adapted, and how her daughters Kaylin and Presley have become supportive siblings along the way. She also discusses her work as a behavior analyst and her advocacy efforts in the rare disease community, including her role with CureSHANK and support within the Tatton Brown Rahman Syndrome community.

This episode highlights the reality that rare diseases don’t always follow predictable patterns—and that even across different diagnoses, families often share common experiences in navigating care, finding support, and building resilience.

💬 Have a question or want to share your experience? Use the “Send Me a Text” link in the show notes.

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⚠️ Disclaimer: This podcast is for educational purposes only and is not intended to provide medical advice. Please consult a qualified healthcare professional for medical concerns.

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