Welcome to Friday Facts! here on the Knowledge Safari blog. Each week we aim to shine the spotlight on various segments of special needs in order to raise awareness and provide information.
This week we are highlighting Batten Disease.
I had heard of this disease before but it became more real to me when I came across the excellent blog called Betz Family. Little Celia was diagnosed in 2009 and the blog catalogs her journey as well as just being a great family blog! So go ahead and take a look when you get a chance.
The following information is taken from BDSRA. Click HERE for more information.
Batten Disease is named after the British pediatrician who first described it in 1903. Also known as Spielmeyer-Vogt-Sjogren-Batten Disease, it is the most common form of a group of disorders called Neuronal Ceroid Lipofuscinoses (or NCLs). Although Batten Disease is usually regarded as the juvenile form of NCL, it has now become the term to encompass all forms of NCL.
The forms of NCL are classified by age of onset have the same basic cause, progression and outcome but are all genetically different Over time, affected children suffer mental impairment, worsening seizures, and progressive loss of sight and motor skills. Eventually, children with Batten Disease/NCL become blind, bedridden, and unable to communicate and it is presently always fatal. Batten Disease is not contagious or, at this time, preventable.
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2 comments:
We love Celia and hope that many of you will head over and offer them support!
Wow, what a pleasant surprise. Thank you!
For us, almost as hard as the terminal diagnosis has been the helpless feeling that accompanies it. All we can do is spread the word and hope that funds will follow. We are SO appreciative of your efforts to raise awareness of the disease!
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