Menkes' Disease
Where do you find all of your information?
Is there a way to prevent my child from getting Menkes disease?
Is there a way to diagnose this before birth?
How do the copper injection treatments work?
- "Menkes Syndrome." Genetics Home Reference. U.S. National Library of Medicine, 25 Feb. 2014. Web. 27 Feb. 2014.
- "How do health care providers diagnose Menkes disease?." Eunice Kennedy Shriver National Institute of Child Health and Human Development. National Institute of Health, 30 November 2012 . Web. 26 February 2014.
- Without treatment, most children live to about the age of three. With treatment, they can live to about the age of ten.
Is there a way to prevent my child from getting Menkes disease?
- There is no known way to prevent Menkes disease. Parents with a family history of the disease should see a genetic counselor before having children
Is there a way to diagnose this before birth?
- It is possible to diagnose before birth, but there is a risk of miscarriage. Doctors take a sample of amniotic fluid, a process called amniocentesis. Or, the doctor will take a sample of cells from the placenta, a process called chorionic villus sampling. These samples are then sent to a lab, where they undergo testing to look for the mutated ATP7A gene.
How do the copper injection treatments work?
- See below diagram.