Menkes Disease

Before I met Lucas, I did not know what Menkes Disease (MD) was. Fortunately, Lucas's parents are very forthcoming, and do not mind educating the public about MD. It is a rare X-linked genetic disease that affects 1 in 100,000 live births (NIH, 2018). It is caused by a mutation of the ATP7A gene which produces a protein that regulates absorption of copper in the stomach, small intestine, and central nervous system (Kim et al., 2014). Copper is essential for many neurological enzymes and the fortitude of connective tissue. A child born with MD appears to be normal for 6 to 8 weeks. The first symptoms include hypotonia, seizures, poor appetite, and subsequently failure to thrive (Prasad et al., 2011). As with many other genetic diseases, the severity of the disease depends on the particular mutation of the gene, but in this blog, I will focus on the more severe forms. Currently, there is no prenatal testing standard in place. Many children are diagnosed by genetic testing, but Menk...

Greetings! I created this blog as part of a project assigned to me by my Healthcare Genetics professor. We are to present a genetic disease through a web-based technology. I chose to work on Menkes disease because my son is very good friends with a boy who's brother was born with Menkes disease. Lucas and his family has had a terrific impact on the rare disease world, partly because his father is a talented film-maker, and partly because they are an incredible example of human resilience. They function as a very happy family who lives life fully despite the challenges of raising a terminally ill, medically fragile child. As a healthcare student and nurse, I feel that it is important to convey the facts, but I want to try and keep the disease human. It is a disease that effects entire families and communities. Please feel free to comment. I am certainly not an expert, but I might be able to direct you to your answer.