EPISODE · Jun 29, 2025 · 54 MIN
CLCN6 With Paul From California
from Rare Connection · host Joanna
Send us Fan MailIn 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 Markers00:00 Intro03:17 Early signs05:32 Paxton's diagnosis story08:30 What to expect12:01 Paxton's biggest challenges15:06 Similarities & differences in CLCN6 gene18:59 Inspiration for Cure CLCN626:17 How is Horae Chan Medical School helping rare disease families28:50 How you can help?34:17 What it would mean for Paul & his family to reach their goal39:35 Speech therapy40:10 Financial timeline41:34 Advice for others44:26 Biggest hopes for Paxton and other CLCN6 patients48:33 Special diet?51:24 ConclusionSupport the show
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Send us Fan Mail 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 t...
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CLCN6 With Paul From California
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