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.

Monday, February 25, 2013

Rare Disease 25 - Batten Disease

From Wikipedia:

Batten disease (also known as Spielmeyer-Vogt-Sjögren-Batten disease) is a rare, fatal autosomal recessive neurodegenerative disorder that begins in childhood. It is the most common form of a group of disorders called neuronal ceroid lipofuscinosis (or NCLs). Although Batten disease is usually regarded as the juvenile form of NCL (or "type 3"), some physicians use the term Batten disease to describe all forms of NCL. Historically, the NCLs were classified by age of disease onset as infantile NCL (INCL), late infantile NCL (LINCL), juvenile NCL (JNCL) or adult NCL (ANCL). At least twenty genes have been identified in association with Batten disease, but juvenile NCL, the most prevalent form of Batten disease, has been linked to mutations in the CLN3 gene.


I was personally introduced to Batten disease through an online medical supply and equipment exchange.  There is a wonderful, beautiful young lady who lives about 30 minutes from me with Batten disease.  Her mother has maintained a blog about her journey.  I proudly wear my purple "Coming Together for Kaitlin" bracelet next to my Niemann-Pick Disease bracelets.

Here is a short Public Service Announcement created by the Batten Disease Support and Research Association:





The Global Genes blog also featured a post about Taylor, another young woman fighting with Batten Disease.


Here is one more story of a little boy, Elijah, who also has Batten Disease.


The "cheat sheet" about Batten Disease from the National Library of Medicine is here.


Batten Disease is just one of 7,000 rare diseases, most without cures and very few treatments.  Please see the rare disease facts at GlobalGenes.org and feel free to share this post with anyone and everyone.

Rare Disease Day is February 28, 2013.



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