At the age of 10, Cassie Barnby began educating medical students about a rare disorder called tyrosinemia which affects only 1 in 120,000 people. Now 17, and a senior in high school, she had the opportunity to accompany Dr. Gordon MacGregor and present their research in front of 200 doctors, and scientists at the first-ever International Tyrosinemia Conference which was held in Quebec, Canada.
Cassie has tyrosinemia type 1 (there are three different types), and both she and her brother, who also has the disorder, received liver transplants as a result.
But what is tyrosinemia? According to the National Institutes of Health, it’s a genetic disorder that disrupts the breakdown of tyrosine, an amino acid that’s a building block for most proteins. When tyrosine isn’t properly broken down, it can collect in tissues and organs, causing serious health complications.
Type 1 is the most serious form of the disorder and the symptoms begin to become apparent within the first months of life. The baby “fails to thrive,” doesn’t gain weight, and doesn’t grow at the expected rate. If left untreated, type 1 tyrosinemia is fatal, and most children pass away by the age of 10.
Cassie’s mother, Dr. Elizabeth Barnby, was a nurse when her two children were born. Advocating for her children led her to a doctorate at the University of Alabama, Huntsville (UAH), in Nursing.
“I thought if I had a doctorate that people would listen to me,” says Dr. Barnby of her motivation.
While at UAH, Dr. Barnby met Dr. MacGregor and eventually talked him into doing more research into tyrosinemia. The relationship eventually grew to include Cassie, who is obviously as fierce as her mom!
Together, the group is working to change what’s known about life with tyrosinemia type 1. When the FDA approved the drug NTBC in 2002, outcomes for children with tyrosinemia type 1 began to improve. The drawback to the treatment were cognitive and behavioral issues.
MacGregor is investigating whether it’s the NTBC or the tyrosinemia that’s causing those problems, and he asked Cassie to help him present the to-date findings of his research to more than 200 doctors, scientists, patients, and families!
You guessed it…Cassie rocked the house!
Source: its-dark-inside1.tumblr.com
