Galactosemia means "galactose in the blood". It is an auotosomal recessive hereditary disorder and is the body's
inability to make use of galactose, a type of sugar. Lactose, found in milk products and the human body, breaks down
into glucose and galactose. Someone with Galactosemia lacks the enzymes needed to break down galactose, which makes
it toxic. Someone like my little brother.
His Story
My little brother is names Oscar. As in Oscar the Grouch. Ironically though, he is the least grouchy person
I know. He is sweet, caring, innocent, and goofy. He is extremely likeable and very generous. Also, he was
born with Galactosemia.
Oscar was born on September 23rd, 1999. He was diagnosed with Galactosemia two weeks later, dangerously late.
He was immediately put on a galactose-free diet, but not early enough to spare him from mental retardation. It has been
9 and a half years, and Oscar is now being homeschooled by my parents. My little sister Ellie goes to a public middle
school, and I a public highschool.
About Galactosemia
Other names for Galactosemia are Epimerase deficiency galactosemi, Galactokinase Deficiency Disease, GALT Deficiency,
and many others. Galactosemia is passed down through an autosomal recessive pattern. That means that both parents
must have or carry the disorder in order for the child to have a chance to have it. Not all children of parents who
have or carry it will have it; they might be a carrier, or not have it at all. Both copies of the gene must have the
mutation for someone to have it. It is autosomal, meaning it is neither X or Y-linked.
It is separated into three groups- Classic galactosemia (type I) is the most common and severe form. Galactosemia
type II (galactokinase deficiency) and type III (galactose epimerase deficiency) cause different patterns of signs and symptoms.
Galactosemia can affect anyone whose parents have or carry the disorder. It is not known to be more common in certain
races or genders. Symptoms in infants may include lethargy, failure to gain weight, jaundice (yellowing of the skin
and eyes), liver damage, bleeding, and bacterial infections. Mental retardation, liver disease, cataracts, speech difficulties,
and ovarian failure may develop later on. On occasion, it even causes death.
Treatments
The best way to lead a normal life while having Galactosemia is avoiding food and drink containing lactose. There
are no known cures for it, but having a galactose-free diet, such as a soy-based diet, will help keep Galactosemia patients
healthy. They should try avoiding products containing milk such as cheese, yogurt, creams, butter, and many other dairy
products.
Detecting Galactosemia
Galactosemia can be detected in infants through NBS, or newborn screening. A sample enzyme is taken and put through
two screening tests. During the Beutler's test, the level of the baby's enzyme is screened. Other tests, such as
the Hill test and the Florida test can be taken. Also, a good way to detect if your baby has Galactosemia is if it has
any of the symptoms, such as not gaining weight fot example.
Our Cause
This website was created to help earn money for patients of Galactosemia. My goal is to raise funds for the research
of treatments and cures for the disorder. For the sake of my brother, other distant relatives, and all those out there
who also suffer from the affects of Galactosemia, my aim is to raise $10,000 for the cause. Please help my family and
I, and many other families by donating. Your generosity can help make the world a better place.
Sources
The Save Babies Trough Screening Foundation website
The Galactosemia: An Overview website
The Genetics Home Reference website
Picture 1-
The Departmen of Health and Senior Services website
Picture 2-
The Salud mas Dietas website
