by J. Drury
Four years ago, our family changed forever when my previously healthy daughter began experiencing life-threatening illnesses and chronic medical conditions. As my daughter began her medical journey at the age of nine months, she began to accumulate a long list of diagnosed medical conditions and an accompanying team of specialists. We worked patiently with her doctors through invasive medical and diagnostic tests, procedures, and many hospitalizations, but no underlying diagnosis for her many medical conditions was confirmed.
As we held onto hope for any news about the cause of her medical conditions, we felt that a diagnosis was the key to all of our questions. We felt a diagnosis would help to guide our daughter’s medical treatment and care. A diagnosis would help to keep her safe from medical injury and error. Most importantly, for our family, living without a diagnosis has caused confusion, frustration, fear and isolation. There is no medical community for our daughter, and as a result there are few system supports in place for her or our family. Until recently we had little coordination of medical care because having no diagnosis left us in a medical “no man’s land” within our children’s hospital. Having no diagnosis meant we fell through the cracks in the medical system with no one doctor taking charge of her care medically.
Our daughter’s medical challenges include but are not limited to profound deafness resulting from progressive sensorineural hearing loss, global developmental delay, sideroblastic anemia, chronic constipation, nephrocalcinosis and hypercalciuria, hypotonia, anesthesia complications, extreme fatigue, and unexplained acute illness resulting in episodes of cyclic vomiting, fever, irritability, and pain. Our daughter is a beautiful, loving, intelligent and stoic little girl who, in her short life, has been through more uncertainty, illness and pain than any child should ever have to experience.
In our search for a diagnosis we have taken our daughter to several well-known medical facilities in Canada and the United States. Her blood and tissue samples have been studied at many renowned research facilities. Each time a new genetic condition was suspected, our daughter would be tested. The results always came back negative or inconclusive. In an effort to stem the huge financial costs we were accumulating by testing our child, our children’s hospital thought to approach the diagnostic odyssey from another angle. They decided to conduct a genetic sequencing of our child’s genetic axiom and examine the genes related to mitochondrial disease—which was highly suspected—as well as any other diseases that were suspected. Then, if the gene did show a suspected anomaly, they could conduct the full test for that disease. We agreed to this new approach. We were hopeful that something would be found.
In September 2011, close to eight months after beginning this genetic sequencing approach, our genetics doctor requested blood samples from my husband and me to further examine a finding that had been made concerning our daughter. Those findings were confirmed a few months later. After 3.5 years of waiting, which is not terribly long in the field of medical genetics, our daughter has a “confirmed” diagnosis of mitochondrial disease. I say “confirmed” because the form of mitochondrial disease that she has is not described anywhere in the medical literature. She is quite literally the only known case at this time.
There will be further investigations into our daughter’s medical condition and disease as her doctors race to publish their medical discovery and further define and describe her condition. What remains in the wake of this discovery is our family and our child. What we thought would bring closure and information has left only questions and a sense of isolation. Where do we go now? We no longer have the diagnostic challenge facing us, but we don’t have the happy ending of a disease discovery, a treatment and a cure. Our child’s disease has no name, and it has no prognosis. What is most stressful is that we don’t know how this disease will affect her as she gets older, and we don’t have the valuable information or knowledge gained from the experiences of other patients like her of how to keep her medically safe.
As the field of genetic research becomes more powerful and sophisticated, medical discovery is going to take off. I believe this is a good thing. Families need to know. People need answers. Information is so important. But I feel a profound sense of challenge as to what is left in the wake of this information and knowledge. It tests a family’s resolve and ability to remain optimistic. It can also challenge hope. As the field of metabolic, molecular and mitochondrial genetics evolves, we know there will be more information for us and help for many families like ours. We also take great encouragement from the fact that our journey will help many who have yet to be diagnosed.
When our daughter is feeling well, she is happy and playful. Despite her many challenges, she doesn’t have the fear, the worry, and the challenge to hope that the adults in her life have. She is all things that are wonderful in a child. We will continue to work hard to give her the best possible opportunities in life. We know her doctors will work hard to ensure she gets a chance to embrace those opportunities. We are working our way back to a place of hope…hope for more information to help manage our daughter’s disease.