MEPAN syndrome - MECR
MEPAN - mitochondrial enoyl CoA reductase protein-associated neurodegeneration
MECR - mitochondrial trans-2-enoyl-coenzymeA-reductase
Carson & Chase's Journey
New blog post (with VIDEO): In Carson's Words...
https://www.mepan.org/single-post/2019/04/18/Sharing-Our-Story-With-the-FDA
Undiagnosed Diseases Network helping patients find answers
Here's another story about MEPAN Syndrome and the UDN program that ran on an NBC affiliate in Kentucky.
https://www.wpsdlocal6.com/2019/03/04/undiagnosed-diseases-network-helping-patients-find-answers/
wpsdlocal6.com There are some patients with medical symptoms so rare that doctors are left baffled. Misdiagnoses with no real options for help often follow.
Carson & Chase's Journey
More attention for MEPAN!
New story on KQED. Will run nationally on NPR on Dec. 17.
https://www.kqed.org/futureofyou/445693/medical-detectives-the-last-hope-for-families-coping-with-rare-diseases
How These Families Solved The Case Of Extreme Rare Disease
MEPAN mentioned in another article about the UDN program in the U.S. that helps families with rare disease.
https://tonic.vice.com/en_us/article/d3q9zm/where-people-turn-when-nobody-can-diagnose-their-illness
tonic.vice.com "I spent hours and hours and hours researching and trying to find anyone or anything that might get us down the right path to figuring out what was going on with the boys."
"Doctor detectives" help diagnose mysterious illnesses with DNA analysis
We were interviewed for a CBS news story about the Undiagnosed Disease Program, and had the opportunity to mention MEPAN.
https://www.cbsnews.com/news/undiagnosed-diseases-network-dna-helps-miller-family-diagnose-mepan-syndrome/
For patients whose symptoms have stumped medical professionals, the Undiagnosed Diseases Network is often their last hope
MEPAN | NBIA
Dr Hayflick and the NBIACures team recently added a page about MEPAN Syndrome to their website - progress!
http://nbiacure.org/learn/nbia-disorders/mepan/
nbiacure.org MEPAN Learn>NBIA DisordersMEPAN (Mitochondrial Enoyl CoA Reductase Protein-Associated Neurodegeneration) is a rare disorder that is characterized by a progressive childhood-onset movement disorder and optic atrophy. Although we now know MEPAN does not appear to involve brain iron accumulation, both....
Does anyone takes idebenone?
Hope this page will help us connect each other - patients and families.