Our 4 year old daughter, Nina Hall, was diagnosed with a terminal, life-limiting disease in 2013. Throughout the course of the year our “diagnostic journey” took us down many twists and turns; some more hopeful than others. We were heartbroken to learn that Nina has a rare disease called Leigh’s Disease.
Leigh’s Disease is a progressive neurometabolic disorder with a general onset in infancy or childhood, often after a viral infection, but can also occur in teens and adults. It is characterized on MRI by visible necrotizing (dead or dying tissue) lesions on the brain, particularly in the midbrain and brainstem. The child often appears normal at birth but typically begins displaying symptoms within a few months to two years of age, although the timing may be much earlier or later. Initial symptoms can include the loss of basic skills such as sucking, head control, walking and talking. These may be accompanied by other problems such as irritability, loss of appetite, vomiting and seizures. There may be periods of sharp decline or temporary restoration of some functions. Eventually, the child may also have heart, kidney, vision, and breathing complications.
There are currently no FDA approved drugs for Leigh’s or mitochondrial disease and there are no cures. The majority of treatments are designed around minimizing symptoms as opposed to treating the disease itself. Through a lot of work and advocacy, we were able to get Nina into a Phase 2B clinical trial for a drug called EPI-743 that has shown promising signs of slowing disease progression and improving quality of life. We are thankful for the opportunity to be in this trial and for the progress being made to better treat mitochondrial disease. We desperately want to see further progress made toward additional treatments, and a possible cure, for Nina and the thousands of children and families affected by Leigh’s and other mitochondrial diseases.
Our vision is to leverage our love of endurance sports, outdoor pursuits, and our community to help raise funds for the organizations that are doing the most to help fund research around Leigh’s Disease. Our first fundraising event, the Boulder Spring Half Marathon in Boulder, Colorado was a great success, raising more than $37,000.
Given this success, and with the help of subsequent fundraising events by Team Unstoppable Nina members, we are now pushing to raise more than $100,000. This will allow us to support Leigh’s Disease specific research through a research fund in Nina’s honor via the United Mitochondrial Disease Foundation’s Research Grant Program. Please consider donating, joining, or passing our story along to others. While ultimately raising funds for research, we are also generating energy and momentum for many races and events to come and welcome you to join our team!
Help Us and the UMDF Find a Cure
The United Mitochondrial Disease Foundation (UMDF) was formed by families affected by mitochondrial disease. The UMDF provides support to families and funds mitochondrial disease research. Since 1996, the UMDF has funded nearly $11 million in research projects aimed at finding better treatments for mitochondrial diseases, with the ultimate goal of a cure. This research has increased the understanding of mitochondrial function, improved diagnosis and moved us closer to treatments and, ultimately, a cure for those who face this devastating disease.
Grants have supported research for one to three years at institutions across the United States, Canada, Europe, and Australia. Recently, projects have included studying what mechanisms in abnormal mitochondria cause muscle dysfunction, enzyme replacement therapy and other potential treatments, as well as developing models for specific mitochondrial disorders.
Mitochondria produce more than 90 percent of the body’s energy. When these tiny parts of the cell can’t do their job, the body doesn’t get the energy it needs, resulting in a wide range of debilitating and sometimes fatal symptoms. Every 30 minutes, a child is born who will develop a mitochondrial disease by age 10. 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, we now know the disease is approaching the frequency of childhood cancers. Many people who suffer from mitochondrial disease are frequently misdiagnosed due to a lack of specialists. This is why we need your support.