DONATE to the Carter Buffum Family Research Fund

The Carter Buffum Family Research Fund

Our son, Carter was born on January 20, 2009, with no apparent health problems except reflux. He always lagged in his milestones, even early in his life, but doctors assured us that he was just a little behind and would catch up. Throughout the first year of his life, he struggled with head and trunk control, reflux and respiratory infections. When he was admitted at 10 months old for a respiratory infection, we were finally referred to a neurologist to address his developmental delays and abnormal carnitine levels. That is when mitochondrial disease was brought up for the first time. We were referred to a Genetics Counselor from there, and that is when the process of testing began.

 

In Atlanta, in May of 2011, after two muscle biopsies, a spinal tap, MRI’s, EKG’s, EEG’s, RMR and many more tests, we received his official diagnosis of Complex I mitochondrial disease. For our son, his brain and gastrointestinal tract are effected the most. He still struggles with dysmotility, constipation, reflux, and cognitive delay. He also cannot talk or walk. In the last year, he has started pulling to sit and stand, scoot on his bottom and take steps while hanging onto furniture and window sills. We are hopeful that he will continue to progress and fight this disease. Although there is no cure at this time, we will never give up!

– Sierra and Joshua Buffum

 

carter-buffum-2Help 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.

 

carter-buffum-3Mitochondria 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.

DONATE to the Carter Buffum Family Research Fund
DONATE to the Carter Lackey Family Research Fund