Episode 19: Ellie and Beth – life with LBSL

When Ellie and Mike found out their daughter, Ellie, had a rare form of leukodystrophy called leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation, or LBSL for short, they were devastated.

LBSL is a rare genetic disorder that does not allow those afflicted with it to produce a protein essential for production of myelin, a critical substance for proper functioning of the brain and nervous system. Myelin provides insulation – much like the plastic coating around the wires in your home. It is also essential for transmission of signals from the brain to the rest of the body.

LBSL is incurable and degenerative and Mike and Ellie were told there was nothing they could do.

They refused to just sit down and take that prognosis, and sought second opinions which lead them to the Kennedy Krieger institute and an additional mitochondrial diagnosis.

Since then they have set about researching and fundraising to find a cure for Ellie.

Today, they have a website A Cure for Ellie and raise funds as a not-for-profit organisation which go towards research at the Kennedy Krieger Institute. They, currently, have a goal of $231,000.00 and are sitting at $205,135.97 of that goal.

Please listen to their story and donate if you can.

You can listen to the podcast here on the blog or through iTunes or Stitcher Radio. Please leave a review at iTunes, as it helps other people find the show.

 

2 thoughts on “Episode 19: Ellie and Beth – life with LBSL

  1. Bonnie Dewart

    That is a really tough situation. And this family have worked with the difficulties incredibly well. I think the fact they have turned a severe personal blow into something that benefits others and progresses research is wonderful. It makes me think of the reasons that this podcast exists. This family experienced the grief and isolation and turned that into something quite different. Thanks for sharing.

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