Medical information you need to know as an independent adult with galactosemia
Overview of the Condition:
Galactosemia is a rare genetic condition in which the body cannot break down an important substance called galactose. Galactose is a sugar most commonly found in milk and dairy products such as cheese, yogurt, and ice cream. Because people with galactosemia can’t break down galactose, it builds up in the body and can cause serious health problems.
Click here for a printable PDF version of this guide.
Medical Problems for Babies and Children:
- If galactosemia goes unnoticed, babies are at risk for serious medical conditions like uncontrolled shaking or convulsions, yellow skin and whites of the eyes or jaundice, and vomiting
- Untreated newborns with galactosemia are at increased risk for E. coli septicemia, a life-threatening blood infection
- All newborns are now tested for galactosemia and if this condition is caught early and dairy products are avoided, the most serious health problems can be avoided.
Medical Problems for Teens and Young Adults:
- Almost all people with galactosemia have some difficulties in speech and language such as speaking clearly and coming up with the right word quickly
- Other adults have difficulties quickly understanding and processing what they hear or read
- Other symptoms of galactosemia in adults include tremors and anxiety – some young adults may be shy and feel lonely
How to Avoid Medical Problems and Complications:
- Avoid milk and other dairy products
- Check labels for foods that include nonfat dry milk solids, casein, sodium caseinate, whey, whey solids, curds, lactose, or galactose on the list of ingredients
- Replace dairy with soy or rice-based products
Pregnancy and Other Medical Events
- Almost all women experience premature ovarian insufficiency (POI)
- POI occurs when something has happened to the supply of eggs in a young woman’s ovaries – women may stop having their periods and may experience hot flashes – infertility or not being able to get pregnant is also caused by POI
- POI can be treated and some women with galactosemia have been able to have children
- Fertility, or the ability to father children, is not affected in men
What Next?
Now you can fill out the Medical Health Summary, and store it on a USB jump drive, or print and save it. This will help you keep important medical information in one place.
Click here for a printable PDF version of this guide.
Resources:
Parents of Galactosemic Children, Inc.: http://www.galactosemia.org/
Learn Genetics Galactosemia: http://learn.genetics.utah.edu/content/disorders/whataregd/galactosemia/
Moving Forward: Your Guide to Galactosemia and Primary Ovarian Insufficiency (POI):
http://newenglandconsortium.org/for-families/galactosemia/galactosemia-and-primary-ovarian-insufficiency-poi/
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