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, February 1, 2013

Rare Disease 1 - Epidermolysis Bullosa

From Wikipedia:

Epidermolysis bullosa (EB) is an inherited connective tissue disease causing blisters in the skin and mucosal membranes, with an incidence of 1/50,000. Its severity ranges from mild to lethal.

The skin is extremely fragile: minor mechanical friction or trauma will separate the layers of the skin and form blisters. People with this condition have an increased risk of cancers of the skin, and many will eventually be diagnosed with it as a complication of the chronic damage done to the skin.

The skin has three layers; the outermost layer is the epidermis, and the middle layer is the dermis. In individuals with healthy skin, there are protein anchors between the layers that prevent them from moving independently from one another (shearing). In people born with EB, these top skin layers lack the protein anchors that hold them together, and any action that creates friction between them (like rubbing or pressure) will create blisters and painful sores. Sufferers of EB have compared the sores with third-degree burns.

The Dystrophic Epidermolysis Bullosa Research Association of America (DebRA), is the only national non-profit dedicated to funding research and providing services and programs for those with Epidermolysis Bullosa (EB) (www.debra.org) made this video to explain EB:

Within a few hours of me there are two children who are struggling with EB. 

You can read about Jackson here (http://helpjackson.org/jacksons-story/).  Jackson was fortunate enough to receive a slightly experimental bone marrow transplant in the summer of 2012, but he isn't "cured".  There is no "cure", only treatment.  Jackson's blog is here (http://savejax.wordpress.com/) and his Facebook page is here (https://www.facebook.com/savejax)

You can read about Easton here (http://www.indiegogo.com/SAVEBABYEASTON).  Easton has a more severe form and has spent more time in than out of the hospital in his few short months.  Their local television is continuing to follow his progress (http://www.cnycentral.com/news/contents.aspx?metadata=keywords=Easton_Friedel)  Easton also has a Facebook page (https://www.facebook.com/SupportBabyEastonFriedel)

Yet another family (not local), who lost their child to EB has a blog about caring for a child (warning - it will cause tears)  http://randycourtneytripproth.blogspot.com/

The "cheat sheet" on Epidermolysis bullosa from the National Library of Medicine is here.

EB 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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