Nicholas James Torpey was born on February 21, 2009, a healthy 7lbs., 8oz. baby boy to Nick Torpey and Jennifer Ruhana. His journey began at 4 months of age, when Nicky stopped smiling. And, he didn’t cry either. He showed very little emotion. His parents, Jenn and Nick, sought medical attention, but their concerns were initially dismissed. Weeks later, on August 1, their world changed forever. Nicky was struggling to breathe and was admitted to the emergency room only minutes from cardiac arrest. Jenn and Nick were asked to leave the room while the doctors attended to Nicky and returned to find their child sedated and on life support. Nicky had to endure a series of tests and procedures that few experience in a lifetime. Six days later, there was joy. Nicky was freed from life support and his parents were able to hold him for the first time in over a week. Unfortunately, the relief was short lived. As they prepared to take him home, Nicky relapsed. He suddenly seized and suffered multiple seizures in just a few short hours. Seven days later, the family was informed that Nicky’s time was limited and sent him home to be with his loved ones.
Because where there is great love, there are miracles, Nicholas defied the odds and exceeded all expectations as he battled the rare disease. For three years, he touched numerous people who were drawn to his angelic spirit which was always present despite spending his days immersed in physical and occupational therapy and feedings through invasive tubes first in his tiny little nose and then in his tiny belly. In every conceivable way, Nicholas was a very special boy. He was an unbelievable communicator even though he never said a word. His strength was unmatched despite his small physical stature. His ability to bring calmness and love into any room or place where he was present was like that of an angel. Anyone who ever met Nicholas was a better person after they met him, whether it was for a minute or an hour of his short impactful life. If you met or held Nicholas, you would never forget him and you were changed in many ways forever. He enjoyed being held and enjoyed cuddling. In some ways, we think he was the one holding us, cuddling and comforting us, and not the other way around. If the weather was right, he enjoyed being outside, being in his stroller and going for long walks. He enjoyed being in his little pool and bath time was very special for him.
Nicholas James Torpey passed away on June 22, 2012, from complications related to Leigh syndrome, also known as Subacute Necrotizing Encephalomy (SNEM). Although our hearts and souls are impacted by his passing, we will live our lives inspired and driven by the memory of his indomitable and calming spirit. Leigh syndrome is an inherited lethal, progressive, predominately pediatric, neuromuscular disorder for which there are no approved treatments. Initially described in 1951, the hallmarks of the disease include bilateral necrosis (death) of central nervous system regions responsible for the control of breathing and other neurologic functions. Leigh syndrome belongs to a large family of disorders identified as “mitochondrial disease.” The disorders share as a common biochemical feature defects in cellular energy metabolism.
The 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.
Through research, the medical world will one day have the resources to help children like Nicholas win the battle against mitochondrial disease. To honor Nicholas and his amazing life, Nicholas’ family has established the Nicholas James Torpey Research Fund. Through the UMDF, money donated to this fund goes to research in Nicholas’ name. Until then, please help his family and the UMDF “redefine hope” for everyone affected by mitochondrial disease through a donation to the Nicholas James Torpey Research Fund.
We need more research to find a cure..
We thank you for your love and support,
The Family of Nicholas James Torpey