Galactosemia is one of those conditions that many have not heard about until it occurs with someone they know. In it’s classic form, Galactosemia is a genetic metabolic disorder that is extremely rare. For a child to have this condition, both parents must be carriers for the gene that causes the condition. Those with this condition do not have the ability to convert galactose into glucose when they consume dairy products. The galactose stays in the body instead and with enough build-up, becomes a poison that can ultimately be fatal.
Statistics on Galactosemia
1. Type II Galactosemia has the same issues as classic Galactosemia, but only results in cataract formation when too much galactose is in the body.
2. Galactosemia is not the same as lactose intolerance. It is far more serious.
3. If left untreated, classic Galactosemia will kill 3 out of 4 infants.
4. The frequency of GALK deficiency varies among different population and ranges from 1 in 200,000 to 1 in 40,000.
5. With each pregnancy, there is the same 25% chance that the newborn will have Galactosemia. There is also a 25% chance that their child won’t have the Galactosemia gene at all.
6. When both parents carry the gene that causes Galactosemia, there is a 50% chance that their child will become a carrier as well.
7. 1 in 47 in the Romani population are carriers of the defective gene that causes the metabolic syndrome.
8. 1 out of every 30,000 live births is affected by inherited Galactosemia.
9. About 9,000 people in the United States are believed to be living with this condition right now.
10. There are 60-100 new cases of Galactosemia diagnosed in the United States every year.
11. Caucasians have a 50% less risk of being born with Galactosemia than other racial groups.
12. In the United States, Virginia sees the most cases of Galactosemia, with incident rates that are nearly double the next closest states. Virginia’s rates are 2.5x the national average.
13. Each of a parents’ brothers and sisters has a 50% chance to be a carrier for the disorder.
14. All 50 states in the US have screening available for Galactosemia.
15. It is more common in people from Ireland. One in 24,000 Irish babies is born with this condition.
16. There is no other way to treat Galactosemia other than dietary restriction.
17. The most common initial symptoms seen in newborns with galactosemia are poor feeding, lethargy, frequent vomiting and jaundice.
18. The Galactosemia diet must be continued for life. Classic Galactosemia is not something that a person can outgrow.
19. Despite what some people believe, Galactosemia is not contagious.
20. Those with this condition must have regular blood tests in order to track the levels of galactose that are in their blood.
21. Despite regular learning problems, children with Galactosemia have the same IQ levels as the general population.
When It Is Diagnosed
Galactosemia is usually diagnosed in the first 7 days after a child is born. When the heel is pricked to take a blood test, this is one of the conditions that is being evaluated. Treatment requires an absolute removal of all lactose products from the diet, but there are other issues that may present themselves as a child ages as well. Speech issues, language problems, difficulty with fine motor skills, and even certain learning disabilities can all occur. Girls may also have ovarian failure.
If only one parent has the defective gene, then the child may develop what is called Duarte Galactosemia instead. They also have issues with lactose at first, but dietary options include restricting lactose for the first year and then gradually reintroducing it to the diet to test a child’s response. Some children with Duarte Galactosemia don’t need any restrictions and there is no known developmental or medical complications that come this diagnosis.
That leaves the classic Galactosemia as the primary concern that parents face during the first days of their child’s life. By knowing these statistics about this genetic metabolic disorder, understanding it can be a whole lot easier.
What Diagnosis Means
With early diagnosis, Galactosemia can mean a change in lifestyle, but the disorder doesn’t have to claim a life. By restricting lactose products, a long and fulfilling life can be attained.
The biggest risk that children and parents face when Galactosemia is in the family is a lack of awareness from care providers. This is especially prevalent in preschools and other public school institutions. Children cannot eat any dairy foods and are often sent with snacks and meals that they can eat. Teachers may wish to offer a child with Galactosemia a treat that other kids are having so they don’t feel excluded.
The only problem with this is that the wrong foods can cause the child to have a medical emergency. If you are a teacher or a caregiver, make sure to let a parent know immediately if their child has eaten a food that has not been approved. Children with Galactosemia might also trade foods with their friends. Birthday parties are particularly difficult because the normal treats that kids get aren’t usually on the approved list for the galactose-free diet. Substituting items for full inclusion might be a good idea instead of forcing a child to bring different treats that sets them apart.
What makes us different is also what can make us stronger. Kids with Galactosemia might feel a little left out if everyone is going to grab some ice cream, but there are several alternative options – including dairy-free – that are still available today. It takes a little work to manage the specific diet that a child with this disorder faces, but the work is worth it. Kids with Galactosemia grow up just like other kids. Sometimes they might learn differently or face certain challenges, but these kids are strong. As the statistics show, they will be able to achieve something great one day.