My granddaughter was diagnosed with Metachromatic Leukodystrophy (MLD) at 2-years old. The diagnosis of this rare, genetic, and terminal disease was devastating to my son and daughter-in-law, as well as to the rest of our family. MLD is a degenerative disease that causes demyelination in the white matter of the brain due to the lack of the ARSA enzyme.
The first few months after diagnosis consisted of a bevy of activity from learning all I could about MLD to reacting to the seemingly quick deterioration in my granddaughter’s speech and motor abilities. I felt so helpless as I witnessed the progression of the disease and saw my son and daughter-in-law struggle with navigating the waters of the healthcare and insurance systems. Rare disease patients and caregivers face different and difficult hurdles with their healthcare and insurance providers. Because the illness is rare, getting a diagnosis and finding the right treatment is quite often very challenging. In the case of my granddaughter, just finding a doctor with the knowledge of how to care for her rapidly progressing symptoms proved difficult. Even though her doctor was the head of neurology at a leading children’s hospital, he had never treated a patient with MLD.
Throughout this three-year journey with my granddaughter, I often have felt very helpless because I am only her grandmother, not her parent. I could not jump in and make decisions or provide daily care because I was not in charge and it was not my role. My perspective is different than that of a patient or primary caregiver. It was my sense of helplessness that led me to advocacy.
Over the past few years, I have discovered that there is a lack of adequate and readily available information within our healthcare and insurance systems on treatment options, medically necessary equipment, research studies, support groups, and more simply due to a lack of awareness of MLD. After meeting other rare disease families, I realized that these are common issues that all rare disease patients face and decided to become a RAN Texas State Ambassador for NORD to help advocate for all families facing a rare disease diagnosis.
In addition to my advocacy efforts, I am also an avid runner who participates in races around the globe. My next two races will be the New Zealand Half Marathon in November 2018 and the Houston Half Marathon in January 2019. All funds raised through my fundraisers will benefit RAN Texas, which helps NORD continue it's crucial advocacy work in this state.
Follow my adventures on Instagram @ skolaskirunning4rare!