Tyrosinemia Society launches to advocate for patients, educate caregivers, and support researchers

Dr. Elizabeth Barnby, a clinical associate professor in UAH’s College of Nursing, is hopeful that the newly launched Tyrosinemia Society will transform the treatment of tyrosinemia patients like her son DJ, pictured here at age 2.

Dr. Elizabeth Barnby

A new non-profit organization dedicated to advocating for patients with tyrosinemia and related disorders has been launched under the leadership of Dr. Elizabeth Barnby, a clinical associate professor in the College of Nursing at The University of Alabama in Huntsville (UAH) and a UAH alumna. With organizational assistance from both UAH and the National Organization for Rare Disorders (NORD), the Tyrosinemia Society will bring together patients, caregivers, healthcare providers, industry stakeholders, and a scientific advisory board in order to elevate the public’s understanding of the condition and call attention to the special challenges people face when diagnosed.

"The mission of the Tyrosinemia Society is to educate and inspire individuals to advocate for those with tyrosinemia and related disorders," says Dr. Barnby, who is currently collaborating with Dr. Jerome Baudry, the Mrs. Pei-Ling Chan Professor in UAH’s Department of Biological Sciences, to advance drug development for the disease. "The tyrosinemia community of advocates, caregivers, and health professionals is a complex and evolving healthcare environment that will benefit from inspirational leadership and non-profit advocacy."

There are presently four known types of tyrosinemia. The transient form usually resolves during the newborn period, but the other three types require expert lifelong care to prevent harm to children and adults with the disorder. The Tyrosinemia Society will focus on providing free education to families and caregivers about the present therapies for the disorder; future efforts will include funding of research to improve the lives of patients with tyrosinemia.

Now we have the chance to make significant progress on all fronts.

Dr. Elizabeth Barnby

"The Tyrosinemia Society will connect families, healthcare providers, researchers, and members of private industry who specialize in the treatment of rare disorders caused by changes in the tyrosine metabolic pathway," says Dr. Barnby, a long-time advocate and the parent of two children with tyrosinemia. "In addition to providing information and resources, we also hope to host activities such as camps, fundraising events, and educational conferences."

To ensure the highest level of accuracy and quality possible, the Society has enlisted a voluntary board of medical/scientific advisors to review all of the educational materials before they are released to the public. "For example, guidelines have been written for treatment of tyrosinemia type 1, but guidelines change over time as new therapies become available or when research evidence supports changes to these guidelines," explains Dr. Barnby. "So with our review process, we will be able to communicate the latest recommendations or guidelines on our website, but using simple, understandable language accessible to everyone."

She is hopeful that, over time, the Society will be able to acquire 501(c)3 status, enabling even more funding to reach those who need it most. "I never wanted to take time away from my tyrosinemia research to start a foundation, because I didn’t want to slow down the research," she says. "But after meeting with so many parents who were unaware of effects of the disease and who didn’t have access to information about it, I decided it was time. Now we have the chance to make significant progress on all fronts, and I’m looking forward to sharing more information with the world about tyrosinemia."


Dr. Elizabeth Barnby