Hello. My name is Ian, and I am Connor’s brother. Connor has Pearson Syndrome, a mitochondrial disease. Connor can’t do many things like swim on his own, ride a bicycle, climb the stairs, or go to the school skate parties. Sometimes, he can’t even walk. He gets sick very easily and being sick is really dangerous for him. I have to help out with him all the time.
He has changed the way I think about things. I think about what I and everybody else can do. And then I think about all the things Connor can’t do.
Connor’s disease is very heartbreaking, but I am still glad he is my brother. He is an awesome five-year-old. He is always happy and laughs a lot. He is so funny and likes to sing and cook. He likes to play and help out in the kitchen.
Maybe through Kids Like Connor, we can help find a cure so he and kids like him can do the things everybody else can.
More About Connor:
Connor appeared healthy at birth. Seventeen hours later, he was in the NICU due to severe anemia and received his first transfusion. At three months, he was hospitalized again for anemia and acidosis. More transfusions and many tests later a diagnosis was given: Pearson Syndrome. Over the next months there were many hospitalizations for acidosis, anemia, pancreatitis and failure to thrive. In December, at five months old, his liver was failing and we were told to “prepare” since “there is nothing we can do.” While others shopped for Christmas gifts, we were making funeral preparations.
Miraculously, his liver began to recover. He was put on IV nutrition (TPN) and tube feeds. He continued to be hospitalized for infections but managed to pull through each one. Doctors praised his strength and recovery. The nurses marveled at his sweet nature and constant smiles. We were just happy to still have him with us.
Connor is now six years old; a friendly, engaging boy who charms everyone he meets. He is always eager to play and loves to entertain a crowd. His joyful exuberance is infectious, despite the many challenges he faces daily. He makes us laugh every day.
His disease has continued to progress – he suffers from multiple issues impacting his:
- immune system
- digestive tract
- balance and control
- muscle strength
- cognitive functions
- neurological functions
We dread the day he may lose both his sight and hearing completely. His susceptibility to illnesses and the energy required to recover means that even the common cold can be dangerous. His energy fluctuates from day to day – as Ian mentioned there are days he can walk and days he cannot. Too many times we hear that frustrating phrase, “there is nothing we can do.”
What is Pearson Syndrome?
Pearson Syndrome is an extremely rare disorder caused by significant mitochondrial (mtDNA) mutations. This is a progressive and multi-system disorder. It can affect any and all parts of the body and as the body’s energy requirements increase, so will the complications.
There is no cure.
Most children with Pearson Syndrome do not live past the age of thee. Connor continues to beat the odds and is now six years old.
Pearson Syndrome is very rare, but it is just one of many 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.
There IS something we can do.
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.