Happy, cooperative and patient, Michael Angelo LoPresti is a gift to his family and all who love and care for him. Born January 8, 2007, he began to experience seizures a few months into life and was formally diagnosed with a mitochondrial disorder—mostly like Leigh’s Disease—in August of that year. Back then the prognosis was not too optimistic; we were told Michael would most likely have 2-3 years of life characterized by increasing difficulties with swallowing and breathing. Developmentally he was not expected to progress much further than where he was when diagnosed—about three months.
During his first year of life Michael was breastfed and grew into the 95th percentile for height and weight. As swallowing became more difficult, however, his body weight plummeted, leaving him in the 10th percentile in a matter of months. A feeding tube was inserted which Michael adapted to very well. Meanwhile, his seizures were brought under control with the help of three different medications.
To everyone’s happy surprise, Michael’s condition has not worsened. While there have been difficulties with acid reflux, allergies, motility and vision, the seizures are gone and Michael is “healthy” within the boundaries of his disease. He has never been able to hold his head up, sit up or roll over on his own, but over time his movements seem to have become more purposeful. Due to his irregular development, he has two dislocated hips, but fortunately they do not cause him any distress. At the time of his diagnosis, he had not developmentally progressed to the point where he would smile. Today he smiles frequently and occasionally bursts into laughter. He is extremely social and enjoys being held by his older siblings, going on walks in the stroller, and flying high on a chair swing that is suspended from the kitchen ceiling. He can get quite tired at times, but is always happy to greet a new day.
Doctors no longer try to predict what Michael’s lifespan might be. We are told his condition could deteriorate rapidly, or that he might live for many years. The uncertainty essentially forces us to live in the present, which is not a bad thing to do. Over the last year Michael has been through different rounds of genetic testing, trying to establish exactly where the genetic abnormality may lie. Given recent advances in research, we hold out hope that someday there might be a therapy that could benefit Michael Angelo in some way. But for now we love and enjoy him just the way he is.
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.