Faculty and staff at the University of Alabama at Huntsville (UAH), part of the University of Alabama system, give back to their community and the world by supporting the Tyrosinemia Society and its new partnership with an organization called PatientsLikeMe.
The Tyrosinemia Society is a nonprofit organization dedicated to helping members of the tyrosinemia community. Tyrosinemia is a group of rare genetic disorders that prevent the breakdown of the amino acid tyrosine. Usually detected in early childhood by newborn screening tests, tyrosinemia occurs in one in 50,000 to 100,000 births worldwide. Left untreated, the disease can lead to liver failure, but with early detection and lifelong management, people with tyrosinemia can develop normally and lead healthy lives.
UAH faculty and staff got involved in society when they saw the chance to make a real difference in the lives of people with this disease.
“The faculty of the Faculty of Nursing has seen the need for a not-for-profit advocacy organization to meet the needs of families and patients affected by the four types of tyrosinemia,” says Dr. Elizabeth Barnby, Professor clinical associate at CON and president of the company. “The Tyrosinemia Society supports patients and families with all four types of tyrosinemia: transient tyrosinemia, tyrosinemia type 1, tyrosinemia type 2 and tyrosinemia type 3. Types 1, 2 and 3 are inherited diseases. rare caused by enzyme deficiency on the tyrosine catabolic pathway. Transient tyrosinemia is more common, but only a transient condition that occurs most frequently in babies born prematurely. The most serious type of tyrosinemia is type 1, and it is a life-threatening condition that can claim the life of a child very early in life, but if identified and treated it can develop into a manageable disorder.
This year, the Tyrosinemia Society partnered with PatientsLikeMe (PLM), the world’s largest integrated community, health management, and real-world data platform. This collaboration will give visibility to the company and its members, allowing them to learn from their peers living with tyrosinemia, and provide an opportunity for the tyrosinemia community to share their lived experiences by providing patient-generated data. . These data will ultimately be used to increase researchers’ knowledge of the disease through a natural history study.
“All types of tyrosinemia will benefit from a natural history study to improve our understanding of the basic pathophysiology of the disease,” says Dr. Barnby. “I am very grateful that my colleagues at UAH and other institutions across the country and the world have chosen to donate their time and energy to make the nonprofit Tyrosinemia Society possible. Their efforts are truly selfless and compassionate and will improve the lives of children and caregivers affected by tyrosinemia and related disorders. “
The company’s partnership with PLM represents an important step towards providing a robust set of data that would otherwise be difficult to obtain on this relatively rare disease, greatly benefiting families affected by tyrosinemia. Developing an online community to support tyrosinemia patients and caregivers marks the first time that a pediatric rare disease community has partnered with PLM, laying the groundwork for other rare disease communities to follow .
Along with Dr Barnby, other UAH volunteers who support the company include Board Member, Dr Jerome Baudry, Webmaster Hunter Cowing, Board Chairman, Dr Kader Frendi, Board Member , Dr Angela Hollingsworth, Secretary Preston Miller, Vice President and Treasurer Dr Mark Reynolds and Chair of the Medical / Scientific Advisory Board, Dr Darlene Showalter. Dr Gordon MacGregor and Dr Casey Norris, former UAH professors, will also continue to serve. Volunteers have become essential to support this cause by performing a multitude of tasks and services.
“These volunteers voluntarily donate their time, talents and hearts to the cause and accept no reimbursement,” notes Dr. Barnby. “They really are the most wonderful thing about the Tyrosinemia Society. They are making a huge difference for children around the world! They build a non-profit family support structure with financial grants from key stakeholders. They create web pages, answer questions, educate the public about tyrosinemia, and network with the National Institutes of Health (NIH), the Genetic and Rare Diseases Information Center (GARD), and the NIH / Office of Rare Disease Research ( NORTH) to improve results. for patients with tyrosinemia. Some even translate, because people from all over the world regularly contact the Tyrosinemia Society. We are a leader in the treatment of tyrosinemia and do what we can in our spare time to help. And none of this would have been possible without the support of the administration of the UAH College of Nursing. “
The Tyrosinemia Society is a community of advocates, caregivers and healthcare professionals dedicated to educating and inspiring individuals to improve health outcomes and advocate for adults and children with tyrosinemia and disorders related. The company has gained a global reputation for transforming healthcare outcomes for those affected by this disorder through education and research in collaboration with universities and healthcare industry professionals. To learn more about the company and its mission, please visit tyrosinemia.org.
PatientsLikeMe allows its members to monitor symptoms of their disease, share their disease experiences and treatment results, and learn how to improve their care through peer interactions. Members can put their illness experiences into context and find answers to their questions by connecting easily and directly with members who have the same conditions, people who have the same symptoms or have used similar treatments. For more information on PatientsLikeMe, visit patientslikeme.com.
(Courtesy of UAH)