When talking about genetic diseases, rare and otherwise, it helps to know a little bit about genetics. Every person’s body has thousands of genes that are responsible for generating proteins that assist growth and healing. When a gene has a mutation, the protein from that particular gene might not be effective.
All of us inherit one set of genes from each of our parents; a genetic disease is passed to the offspring when both parents have the same mutation on the same gene. If only one parent has the mutation, the offspring may be carriers of the mutated gene, but not the disease.
Okay, so that brings us to Wilson disease, which causes copper to build up in the patient’s liver, central nervous system, brain, and/or other organs.
Until the copper level reaches a certain point, there are no symptoms, but once that threshold is crossed, the symptoms of liver disease usually appear, and patients can become extremely fatigued and develop cognitive problems.
Mumbai resident, Sanjeevani Pathwardhan, lives with Wilson disease. At the age of 23, she suddenly became very sick and began vomiting blood. Her health began to deteriorate as she went from doctor to doctor looking for answers, but came up empty-handed.
Finally, eighteen months later, she was told she had Wilson disease and began treatment.
One of the lasting effects of her diagnosis was her decision to adopt her children rather than giving birth.
Today, at the age of 45, she is the proud mother of two accomplished kids. Pathwardhan continues to receive treatment for Wilson disease.
