Today is International Rare Disease Day, and actually the anniversary of the day we received Lorelei’s FBXL4 Mitochondrial Disease diagnosis. More than likely, prior to us, it is quite possible that you had not heard of Mitochondrial Disease. I definitely had not!
I’ve said it before, and I will say it again: we are one of the “lucky” families who have been able to receive a diagnosis, especially so early in Lorelei’s life. I firmly believe that her early diagnosis (thanks to research and patients before us that lead to new testing and discoveries) will help her live a longer, healthier life.
So Mito. I will be the first to admit that I was never a huge fan of math or science growing up. I mean, science was cool, but just not my jam.
I never realized that my styrofoam cell project in 10th grade bio, where I used a straight pin to add a styrofoam mitochondria, colored with a magic marker, with a little flag that said “mitochondria: the power house”, into a larger styrofoam ball with a wedge cut out of it (i.e. the cell), would be something that would later be the sole reference of “mitochondria” in my memory bank. Until February 29, 2016. When we were told my daughter had a rare disease. A rare mitochondrial disease.
A geneticist and a neonatologist sat across from my husband and I, and explained that our brand new baby who had arrived two months early, has a specific form of mitochondrial disease that has only been documented a handful of times in a handful of studies.
In my mind, we became the definition of rare.
Research and awareness for rare diseases are crucial. Science is evolving and giving families like mine hope. Hope that we can prove statistics wrong. Hope that a cure will be found. Hope that my daughter will live a meaningful life. Hope that this disease is more common than we thought, and there are people who have it, who are living long, “normal” lives. Hope that this disease can be prevented for any future children we may have.
With research, possibilities are limitless!
Doctors are taught in school “when you hear hoof beats, think horse not zebra” because often times, it’s the more common answer. Today (and every day) we are thankful for the doctors, researchers and scientists that “think zebra” – that think outside of the box and that don’t give up without an answer when it comes to rare symptoms, rare diagnoses and rare little humans like my Lorelei.
Fun fact: According to the United Mitochondrial Disease Foundation, mitochondrial function could be linked to so many other more common, yet still rare, diseases including Alzheimer’s Dementia, Parkinson’s Disease, Huntington Disease, ALS, Multiple Sclerosis, Cystic Fibrosis, and so many more.
Right now, my family is raising money for Lorelei’s Fund for Mitochondrial Disease Research at the Children’s Hospital of Philadelphia. Dr. Falk’s lab is studying Lorelei’s exact genetic mutation, giving us hope that through her research of this rare disease, anything is possible.
Want to learn more about Rare Disease Day 2017? You can catch up on that here!