Menkes Disease With Daniel DeFabio From New York

Send us Fan MailNicknamed Kinky Hair Syndrome Menkes Syndrome is tested for in cases where the child isn't getting enough copper which can cause hair loss.  It is often the first sign.  It isn't on the newborn screening currently, but their are clinical trials for it.  Go to clinicaltrials.gov for more information if your child has it.  Babies won't show signs often until it is to late.  Daniel has a background in video editing and animation and has worked on shows like The Closer and Curb Your Enthusiasm.  Today he works at Global Genes and uses his skills to help rare disease patients tell their story through film. I am currently trying to turn Rare Connection into a nonprofit.  I am looking for volunteer board members to help with that.  It is a volunteer position, so you won't be paid, but it is a good way to gain experience and help the rare disease community.  Please contact me through the link in the fan mail link in the show notes if interested.  Also please subscribe wherever you are seeing this   Thanks for listening.Chapter Markers0:00:00 Intro0:03:52 Diagnosis Journey0:06:51 Challenges Daniel faced0:09:46 Documentary about Lucas0:13:47 Producing the documentary0:17:01 Impact of the docimentary on the rare disease community & beyond0:18:51 Founding of The Disorder channel0:22:17 Motivation for the disorder channel & content found there0:23:53 Selection process0:25:09 Director of Community Engagement Role0:29:08 Most rewarding moments in Daniel's career0:31:57 How films can raise awareness & drive change0:34:33 Advice to those wanting to share their stories0:36:16 Choosing music that doesn't disrupt0:38:46 Getting involved in Global Genes & supporting the mission0:51:12 How Daniel's perspective on life has changed since his diagnosi0:52:56 How a sibling reacts when his brother is getting all the attention0:55:10 Advice for rare disease patients0:58:31 ConclusionSupport the show