A blog about the grief after losing a child to Niemann Pick, Type C, a rare disease, and how I'm moving forward with my life.

Friday, January 11, 2013

Webinars on Rare Diseases

I know this isn't for everyone, but through my blog I also hope to educate others rare diseases.  This information came in my email this morning.  Even if you don't (or can't) attend, please forward the information to someone who may be interested.  This will be recorded and archived for podcast if you can't attend.

 Here is the link for the podcast

RARE Webinar Series: Newborn Screening

Global Genes | RARE Project will be hosting a series of webinars in 2013 geared towards educating and empowering our RARE community.

Webinar #1:  Newborn Screening
Register today!

Many more diseases can be detected at birth than are currently part of the newborn screening panels in each state. Join us for a vibrant discussion and to learn more about why the states have different screening panels, how a particular screen can become part of your state’s NBS panel, how the federal SACHDNC panel influences state screening, and the importance of renewing the Newborn Screening Saves Lives Act of 2007.

Date:  January 24, 2013
Time:  11:00 am Pacific Time

Panelists have expertise in both state and federal newborn screen laws, will discuss the process and challenges connected to expanding newborn screening and review the re-authorization of the Newborn Screen Act coming before Congress in March.
* Bill Morris, Grey’s Gift
Jim Bialick, Newborn Coalition
* Dr. Fred Lorey, Chief Genetic Disease Screening Program (California Department of Public Health)

Sponsored by:  Shire
Space is limited.  Click to register.
(once you click,  you will be directed to our main webinar page.  Click “register” in the middle of the page to register for this webinar)


Screening for rare diseases at birth is very important.  Not only do the parents obtain a diagnosis right away, it helps parents connect with others and put a support structure into place right away.

Every state tests for different diseases - and some states test for more than others.  Click here for a website where you can link to each individual state's newborn screening program.  Here is a quick view file which shows the same information.

Based upon the above information, there are only two states that test for Niemann-Pick diseases in the newborn screening process: Illinois (types A & B beginning in 2014) and Missouri (although listed as testing for NPD in the file above, it is not listed on the list of diseases tested for).


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