The story of Tara
The month of February is a special month because Joey celebrates his 10th Birthday on February 8th and Rare Disease Day on February 28th.
Joey’s story:
Joey is a happy, smart, funny, 10-year-old, with one rare difference – he has a metabolic disease called Galactosemia. Joey was diagnosed at three days old via New York State’s Newborn Screening Test. During infancy Joey was very sick and underwent treatments to remove the galactose build up from his body to help his failing organs thrive. Upon diagnosis, Joey responded quickly to a galactose-free diet. He has been growing and thriving ever since and continues to receive therapy services for the diseases side effects.
What does it mean:
Galactosemia is an inherited disorder of carbohydrate metabolism that affects the body’s ability to use certain sugars from food. Galactosemics are missing the GALT enzyme to break down the sugar galactose and lactose. Joey’s body (all of our bodies) produces galactose, which also does harm to him.
Treatment: Diet & Therapy Services
re is no current cure for Galactosemia. To treat Galactosemia, all sources of galactose must be eliminated from the diet. The largest sources of galactose are dairy products (milk, butter, cheese) and all foods containing dairy. This restricted diet must be followed for life. Galactosemia is not an allergy. If Joey accidentally eats a restricted food, he will become very sick; the galactose buildup in his blood and body tissues will cause damage to his organs and can lead to death. Therapy Services are also provided for Joey to help remediate the side effects from the disease, including Speech therapy and Occupational therapy.