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.

All Episodes

Rare Connection

CLCN6 With Paul From California

June 29, 2025 • Joanna • Season 5 • Episode 5

0:00 | 55:06

Send a text

In this powerful episode of Rare Connection, we meet Paul, the president of Cure CLCN6 and the father of Paxton, a young boy diagnosed with an ultra-rare visit mutation on the CLCN6 gene.

Paxton’s journey began with developmental delays and years of unanswered questions. After extensive genetic testing, his family finally received a diagnosis—one so rare that few doctors had even heard of it. Today, Paul is leading the charge to raise $1.5 million to fund a life-saving gene therapy that could offer Paxton a chance at a better future.

Bisit cureclcn6.org for more information. To donate click the following link to be taken to their Go Fund Me account.

https://www.gofundme.com/f/donate-to-fund-paxtons-critical-gene-therapy?attribution_id=sl:c0d715d3-a026-4505-8dfa-52ec45d605f6&utm_campaign=man_sharesheet_dash&utm_medium=customer&utm_source=copy_link Cure CLCN6 is a recognized 501c3

If you are interested in purchasing one of my t-shirts click the link below for my bonfire account. https://www.bonfire.com/invisible-disability-rare-disease-awareness/

Chapter Markers

00:00 Intro

03:17 Early signs

05:32 Paxton's diagnosis story

08:30 What to expect

12:01 Paxton's biggest challenges

15:06 Similarities & differences in CLCN6 gene

18:59 Inspiration for Cure CLCN6

26:17 How is Horae Chan Medical School helping rare disease families

28:50 How you can help?

34:17 What it would mean for Paul & his family to reach their goal

39:35 Speech therapy

40:10 Financial timeline

41:34 Advice for others

44:26 Biggest hopes for Paxton and other CLCN6 patients

48:33 Special diet?

51:24 Conclusion

Understanding Hypophosphatemia: Recognition, Diagnosis, and Treatment
Endocrine experts distinguish Hypophosphatemia from osteoporosis & osteomalacia

Listen on: Apple Podcasts Spotify

Support the show