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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