Real stories

Paige's Story

Paige was diagnosed as a classic galactosemic at 7 days. Her drama started before she left the hospital. She simply wouldn’t drink from a bottle, she would gag everytime the bottle was put in her mouth so she had a feeding tube inserted...

Jonah's Story

My husband graduated with his MPA and began his career-changing job search, we put our house on the market and Jonah was born. To say our life was busy is an understatement. The day I returned from the hospital, our pediatrician called...

Grant's Story

Our second son, Grant, was born without complications. He was 3x smaller then our first baby and slept CONSTANTLY.  At first, we thought this was a blessing...

To read these full articles visit: http://www.galactosemiamidwest.com/category/ourstories/

To read a more in depth story of a boy with galactosemia visit: http://www.11magnolialane.com/2012/09/26/causes-close-to-our-hearts-galactosemia-foundation/

Why should we care?

Many people wonder why scientists research diseases that affect very few people compared to the American population, such as galactosemia. Director of the National Institutes of Health, Francis S. Collins, M.D., Ph.D., responded to this thought by saying,

 

"If you or your family were affected, it wouldn't be rare for you. And the study of rare diseases has taught us more than most people realize."

To read more of this interview visit: http://www.nlm.nih.gov/medlineplus/magazine

Students and everyday people should care about galactosemia because this disorder does happen more than you might think. It's important to at least be exposed to this information and have a basic understanding. Having some knowledge of galactosemia can only benefit you and open your eyes to the real world.

There are several ways people can help the research of galactosemia:

• Donate
• Educate
• Support those with it

Make sure to follow @Galactoinfo on twitter for more information!
Click here to be directed to twitter----->https://twitter.com/GalactoInfo

Different types of galactosemia

There are several different types of this disorder, but they're all relatively similar. The different types are all caused by mutations in the GALT, GALE, and GALK1 genes. The main difference between the forms of galactosemia are the damage they can cause.

1. Classic galactosemia (type I)- the most common and most severe form. It can cause severe damage to the liver, kidneys, central nervous system, and other body systems. If undetected, classic galactosemia is fatal. 

2. Galactosemia type II (also called galactokinase deficiency)- a less severe form of this disorder due to low levels of galactose kinase. It can be managed with a few dietary restrictions. This type does not carry the risk of neurologic or liver damage.

3. Galactosemia type III (galactose epimerase deficiency)- a form which can be severe due to low levels of galactose epimerase. This type can cause cataracts, delayed growth and development, liver disease, and kidney problems.

This diagram shows the areas that can be damaged by classic and type II galactosemia.

For more general information on the different forms visit: http://medical-dictionary.thefreedictionary.com/Galactosemia+type+3

Living with galactosemia

Everyday Life

A child can live a normal life except for a couple disabilities if they don't catch the disorder early enough. The child's life is definitely still worth living as long as they're careful with their diet. If a strict diet isn't followed then their condition will progressively worsen.

This video shows the story of one family who's son was diagnosed with galactosemia and how it has affected their lives.

"Growing up, I would often have to sit and watch while everyone else ate the birthday cake, the ice cream, etc."

To read more from a teenage boy's living with galactosemia visit: http://www.teenink.com/hot_topics/health/

The Symptoms and Diagnosis

Symptoms in Infants:

• Seizures
• Fatigue 
• Poor weight gain
• Irritability
• Poor feeding
• Yellow skin and whites of eye

Diagnosis:

In most states, infants are tested for galactosemia at birth. A small amount of blood is taken from the baby's heel to check for low levels of the GALT enzyme. Many long term complications can be prevented if caught at this point. If there is a history of galactosemia in the family, tests can be conducted to the mother during pregnancy.

Treatment for galactosemia is an extremely strict diet. No dairy products may be consumed, and there are very few things you can eat.

To find out more about the symptoms and diagnosis visit: http://galactosemia.org/
You can also donate and find out more about galactosemia on this site.

What is galactosemia?

"Galactosemia is an inherited disorder that prevents a person from processing the sugar galactose, which is found in many foods."

Galactosemia is a rare disorder where your body is missing an enzyme (called GALT). This enzyme is what the body uses to break down galactose into glucose and lactose. Without the enzyme, the body begins to accumulate too much galactose and it becomes harmful. The build up can lead to other complications such as cataracts, learning disabilities, speaking disabilities, and the enlargement of the liver and spleen. This disorder occurs in approximately 1 in every 55,000 newborns.

This disorder is recessive, which means the carriers will not be aware they they're carrying a defective gene. The parents tend to have the genotype (gg). 

For more information visit www.liverfoundation.org

This picture shows that there's a 25% chance the newborn will have the disorder and a 50% chance the newborn will be a carrier for the gene defect.