MERRF Syndrome Mom Talks Adoption and the Internet
Jessie Fein, Vice President of Content & Creative at Bright Horizons Family Solutions, is a former opinion columnist for the Boston Globe. More than that, though, she’s the mother to Dalia, a patient with the rare mitochondrial disorder myoclonic epilepsy with ragged-red fibers (MERRF) syndrome.
While misdiagnoses are common within the rare disease community, because Dalia is adopted, genetic testing was suggested when she first started experiencing symptoms, thus her condition was discovered more easily than is typically the case.
In the videos below, Fein discusses why her daughter being adopted assisted in making the proper diagnosis, and why the internet can be so helpful when parenting a child with a rare disease.
Fein: You know, mitochondrial disease is really, really hard to diagnose; (my husband and I) know so many people who had a hard time figuring out that it actually was mitochondrial disease. We didn’t have that situation because Dalia is adopted and, early on, when she started to have hearing loss and was undiagnosed, it was recommended that she have genetic testing.
Because the mitochondria in her blood are compromised, the blood test led to a positive diagnosis really quickly. That’s very unusual because, first of all, most people wouldn’t have genetic testing. Second of all, you could have mitochondrial disease or MERRF syndrome, and not have it show up in your blood, and then it wouldn’t be diagnosed. Dalia was diagnosed quickly, of course, when she was diagnosed, we had never heard of MERRF syndrome – Nobody had heard of MERRF syndrome. I hadn’t heard of mitochondrial disease, and, to be honest, I didn’t remember what mitochondria were. It was a big education for us. We went home and started Google-ing and just read everything we could find, but with a rare disease, there’s not much.
Fein: When you read about it, you read every single thing that could possibly happen, and you want to just devour that information. (The internet) is useful in that “Yes, this is a thing” and other information about it, but it is overwhelming and probably not the best way to start when you get that diagnosis. One of the things that I do like about the internet is that you can connect with people who have the same disease, and MERRF syndrome is so rare that now there are people around the world that you can connect with, and that’s a really good thing that the internet offers.
Through the internet, I became associated with MitoAction, and I’ve met other people whose kids have mitochondrial disease. I haven’t met anybody else who has MERRF syndrome or whose kids have MERRF syndrome, but it is really reassuring to meet people whose kids have rare diseases, whatever those rare diseases are, because it is impossible – no matter how supportive and loving friends and family are – to really truly get what your life is like. Meeting other people who are in the same situation, even if it’s not the same diagnosis, is tremendously, tremendously useful.
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