Homocystinuria With Erika from Florida

Send us Fan MailErika is the parent of 24 year old nonverbal adult Alexa.  Erika is talking for Alexa in this episode,  Learn about Alexa's story, Learn how Erika communicates with Alexa, their struggles getting a diagnosis, The Medical Nutrition Equity Act and sources that can help with of Medical Food Formula and vitamins that are imperative For those on a metabolic low protein diet to live.   I mentioned NORD in the podcast at one point, for those not familiar NORD is the National Organization for Rare Disorders.  i am trying to turn this podcast into a nonprofit.  I am actively seeking board members, This is a volunteer position so you won't be paid, but it is valuable experience especially if you are out of work and have a gap in your resume.  Board members will be expected to lead committees, so I need someone who can commit to atleast a year.  I am looking for people who are organized, have experience with fundraising, have leadership experience, and like to travel.  As we get the funds their may be travel opportunities available.  Advocacy experience is a plus.  If you or someone you know has a rare disease this will also help since this nonprofit is all about rare diseases.  The mission of my nonprofit is the same as the podcast,  To connect rare disease patients, to educate medical professionals and the public, and to find clinical trials for the 95% of rare conditions that lack FDA approved treatment.  The first 2 I am already doing through a facebook group and page as well as the podcast.  I also have started and email list with some of my guests.  Clinical trials take funding, so I can't fund them till after we are up and running for awhile, but I can help find them and do recruiting if you know of one or are running one.  Please contact me [email protected] Markers0:00:00 intro0:03:34 diagnosis story0:17:11 Age at diagnosis0:17:49 communication0:19:18 Erika communicates with Alexa on camera0:20:51 Lense dislocation0:21:16 Daily life0:23:42 How Erika feels about newborn screening0:31:10 Erika opts out of lensectomy0:32:24 Advice for newly diagnosed0:35:45 Medical foods0:37:21 How Erika deals with the cost of medical foods0:41:58 Challenges at the beginning0:44:51 How Erika Ensures that Alexa gets the best possible care0:51:58 Clinical trial0:55:53 good moments with Alexa0:57:18 hopes for the future0:59:57 conclusionSupport the show