UConn Extension Educator Sherry Gray coordinated a state-wide Metabolic Family day at Lyman Orchards on October 14, 2012. This event invited families of patients with metabolic disorders from the Genetics clinics at UConn Health Center and Yale New Haven hospital. The event included representatives from several metabolic companies including Nutricia NA, Applied Nutrition and Biomarin Pharmaceuticals. Patients had a chance to try products from these companies as well as participate in fun events such as the Corn maze, Horse drawn hay rides, a food drawing, and fruit and pumpkin picking. The event had sponsorship from Biomarin, Applied Nutrition and Nutricia. The Hartford County Extension Council also provided support for this event. 116 people attended the event from all over the state. Patients who attended have diagnoses such as Phenylketonuria, Maple Syrup Urine Disease, Fatty Acid Oxidation disorders, Methylmalonic Acidemia, Galactosemia, and Urea cycle disorders.
Inherited metabolic disorders are genetic conditions that result in metabolism problems. Most people with inherited metabolic disorders have a specific gene that results in an enzyme deficiency. There are hundreds of different metabolic disorders, and their symptoms, treatments and prognosis vary widely. For many, early treatment in infancy and throughout life is necessary to avoid devastating disability or death. Although individually rare, collectively metabolic disorders may affect about 1 in 1,000 to 2,500 newborns. In Connecticut, there are hundreds of individuals with metabolic disorders spread out in communities all over the state.
This event provided a chance for many families of children with metabolic disorders or adults with metabolic disorders to meet with each other and provide social support. They are generally the only one in their community with the disorder so social isolation can be a problem. Events such as this provide a positive forum for connection and support. Patients treated at both the UConn Health Center and Yale New Haven hospital’s Metabolic Centers (the only two treatment centers in the State) were invited to the event.
Sherry Gray has worked with the Division of Human Genetics for over 20 years through a unique linkage between Cooperative Extension and UConn Health Center, paid for by a grant with the Connecticut State Newborn Screening Program. She provides clinical counseling to over 140 patients with metabolic disorders, many who require specific dietary therapies. During this time she has worked on many metabolic patient outreach events such as Metabolic Family weekends held at Incarnation Center in Ivoryton, CT, Rock Cats games at New Britain Stadium, day events at the Beardsley Zoo, Lake Compounce, and many Low Protein Cooking schools held at St. Joseph College. All of these events have provided children and adults with metabolic conditions with social support and education.
These events have also been attended by many UConn Nutritional Sciences and Allied Health students who have come to events and gotten course credit and/or community service exposure to a unique population. Patients are also enrolling at UConn for undergraduate or graduate study, which shows the tremendous gains in medical care and treatment which allows these individuals to live longer and more successful lives.