Now try to imagine that usually brief period of time taking nearly a year instead of a few minutes, a few days or even a few weeks. Try to comprehend that you know, and your doctors know, that something is visibly wrong with your child, but cannot tell you the cause; let alone the treatment that will make them better. With doctor after doctor and test after test never finding conclusive results, think about the overwhelming fear you’d feel day-in and day-out over the course of a year all while being besieged by an unknown threat to your child’s health, safety and well-being.
Then imagine the anguish and pain that comes with finally, after nearly a year, receiving the diagnosis you feared the most; that your child suffers from a uniquely rare and degenerative disease for which there is no cure and little scientific knowledge.
Her name is Ellie. She is a sweet and outgoing girl who serves as nature’s own anti-depressant to family and friends, as well as to the many doctors, nurses and researchers who’ve come to know her at Johns Hopkins University School (JHU) of Medicine and at the associated Kennedy Krieger Institute in Baltimore, Maryland. What began as noticeable balance issues and mild pain in her foot was later concluded to be Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation (LBSL), a very rare and progressive disorder that affects the brain and spinal cord; most often developing in children. Rare in itself, LBSL falls within the also rare Mitochondrial Disease family. In short, it’s what could be described as an orphan strain of an orphan disease.
And if LBSL in long form sounds hard to pronounce, it pales in comparison to how hard it currently is to even recognize or diagnose except by a small handful of doctors in the world. In regard to Ellie’s apparent balance issues, doctors initially involved attributed her condition to everything from a “goofy personality” to claims of “we just don’t know.” In addition, she had long struggled from a lack of appetite, energy and low muscle that another physician claimed was probably due her just being a “picky eater.” And later, after the disease had finally been diagnosed, they were told that there were no treatments and to simply care for her as best they could.
Led by Ellie’s parents, a network of committed friends and family refused to accept her diagnosis in any form of defeat, and embarked on their own research to find those best equipped and trained to help Ellie win this battle. Luckily, Ellie is now in the care of knowledgeable doctors and researchers at JHU School of Medicine who, knowing while no cure exists, do have a specialized knowledge base in the field of Mitochondrial Diseases. She also is benefiting from a “mito-cocktail,” a pure form of antioxidants and amino acids that help keep her cells functioning and her tissues strong. While her doctors are quick to point that they aren’t sure what impact these cocktails will have, Ellie’s parents believe the supplements are helping to offset the symptoms. More so, they appreciate the aggressiveness, significant resources and unaltered concern they have taken with respect to Ellie’s treatment.
Every 30 minutes, a child is born who will develop a mitochondrial disease by age ten. Each year, 1,000 to 4,000 children in the United States are born with a mitochondrial disease. While exact numbers of children and adults suffering from mitochondrial disease are hard to determine because so many people who suffer from Mitochondrial Disease are frequently misdiagnosed, we now know the disease is approaching the frequency of childhood cancers. Many are misdiagnosed with atypical cerebral palsy, various seizure disorders, childhood diseases and diseases of aging. Still others aren’t diagnosed until after death. In the case of LBSL, this strain of Mitochondrial Disease was only discovered in the last ten years and there are less than 100 cases ever identified.
Earlier this year, Ellie, her family and JHU School of Medicine took an important first step to address the lack of knowledge and understanding associated with LBSL specifically and Mitochondrial Diseases more generally. At an unprecedented forum, medical faculty and students gathered to hear specifically about her case, learn how to spot the disease and what therapies are available for mitochondrial disease patients. As a new generation of doctors prepares to enter the world, Ellie is now teaching the medical community how to intervene early and give these kids the best fighting chance possible.
Additionally, Ellie and her parents want to make even more practicing physicians and families aware of the resources and means to recognize and treat this degenerative disorder. No family or child should have endure the vast unknowns related to Mitochondrial Diseases, and for that reason the McGinn’s are speaking out to doctors, researchers and others about their journey in the hopes others do not suffer the same challenges. In doing so, they are providing other institutions, research centers and the media access to their case histories in the hopes that both today’s and tomorrow doctors have the answers to the questions parents of “mito-kids” so desperately need.