We welcomed a beautiful baby boy, Jaxon, into our lives on May 2nd, 2013 following a normal pregnancy. A few hours after delivery, Jaxon presented with signs of anemia. A blood test revealed a dangerously low hemoglobin level. His doctor immediately initiated a red blood cell transfusion before Jaxon was transferred to a larger hospital with a NICU. Jaxon spent 11 days in the NICU and was released without a precise diagnosis as to why his platelets, red blood cells and white blood cells were at abnormally low levels. Neonatal specialists speculated on a viral etiology. Outpatient lab tests continued throughout the month of May to monitor his complete blood count (CBC), as doctors were waiting for his bone marrow to “kick in”. In early June, a CBC once again revealed abnormally low numbers in all his cell lines and Jaxon was sent to St. Louis Children’s Hospital where we had hoped to acquire a diagnosis. A bone marrow biopsy was performed and the doctors were shocked to learn that Jaxon was most likely suffering from a very rare mitochondrial disease called Pearson Syndrome. After waiting a very long and arduous 6 weeks, the diagnosis of Pearson Syndrome was confirmed through advanced testing completed at Baylor University.
Pearson Syndrome is an extremely rare mitochondrial disease that is caused by a deletion in mitochondrial DNA. DNA are the “building blocks” of life.” They are contained in nearly every cell in a person’s body. Also in our cells are mitochondria, the “powerhouses” that produce more than 90% of the body’s energy. The way mitochondria are supposed to work are coded in their own DNA. When mitochondrial DNA, or mtDNA, is “broken”, the cells cannot function properly; they do not have enough energy to build other cells, to clear out waste products, or to build enzymes.
Pearson Syndrome is known to be a multisystemic, mitochondrial cytopathy presenting clinically with anemia, neutropenia, and thrombocytopenia, as well as variable hepatic, renal, and endocrine failure. Less than 100 cases of Pearson Syndrome have been reported worldwide since the late 1970s. Most children are diagnosed in infancy or in the first year of life. Sadly, Pearson Syndrome is usually fatal in infancy or before the age of three.
Upon receiving the diagnosis, Jaxon had a central line (B roviac) surgically placed in his chest to make blood draws and transfusions easier. He was enrolled in home health where the nurse would come by twice a week to draw blood and check vitals. Because Jaxon’s bone marrow could not produce enough red blood cells on its own, blood transfusions were needed on average every two weeks. His immune system was suppressed due to low white blood cells and his platelets were always low as well. Unfortunately, Jaxon was placed in Hospice care in August 2013. Jaxon passed away on October 7th, 2013 in the comfort of his home surrounded by his loving family. Fortunately, Jaxon did not suffer greatly in his final few days. We are truly blessed to have had Jaxon in our lives.
Jaxon may have only been with us for five short months, however, he accomplished more in his lifetime than we ever could have imagined. Jaxon, despite his health issues, was a brave and resilient boy who reminded us all of the power of a smile, even on the dark and dreary days. He taught us how to remain faithful, stay strong and always be thankful during times of tremendous challenges. Jaxon’s name means “warrior” – to which he lived up to, every day of his life. It is for him and his “warrior” spirit that we formed a Research Fund in his name with hopes to eventually find a cure for mitochondrial diseases.
Pearson Syndrome is just one of many mitochondrial diseases. 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.
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 and lethal disease.
Through research, the medical world will one day have the resources to help children like Jaxon. Through the UMDF, money donated to this fund goes to research in Jaxon’s name. Please help our family and the UMDF redefine hope for everyone affected by mitochondrial disease through a donation to the Jaxon Sharma Research Fund.
We appreciate your generous support and God Bless!
The Sharma Family