Nicknamed 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 Markers
0:00:00 Intro
0:03:52 Diagnosis Journey
0:06:51 Challenges Daniel faced
0:09:46 Documentary about Lucas
0:13:47 Producing the documentary
0:17:01 Impact of the docimentary on the rare disease community & beyond
0:18:51 Founding of The Disorder channel
0:22:17 Motivation for the disorder channel & content found there
0:23:53 Selection process
0:25:09 Director of Community Engagement Role
0:29:08 Most rewarding moments in Daniel's career
0:31:57 How films can raise awareness & drive change
0:34:33 Advice to those wanting to share their stories
0:36:16 Choosing music that doesn't disrupt
0:38:46 Getting involved in Global Genes & supporting the mission
0:51:12 How Daniel's perspective on life has changed since his diagnosi
0:52:56 How a sibling reacts when his brother is getting all the attention
0:55:10 Advice for rare disease patients
0:58:31 Conclusion
