CLCN6 With Paul From California

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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

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