According to a story from RT, the Lobanov family of Nizhny Novgorod, Russia has been ravaged by Fabry disease. After a bureaucratic quagmire that has gone on for around three years, it appears that the family will finally be able to have regular access to medication for the rare illness. Last December, twelve year old Ivan Lobanov issued an appeal for support that started to gain traction on social media.
About Fabry Disease
Fabry disease is a rare genetic disorder that primarily affects the heart, skin, and kidneys. As a lysosomal storage disease, it is characterized by a deficiency in the enzyme responsible for processing sphingolipids, which accumulate in the body as a result. The disorder is caused by mutations of the GLA gene. Symptoms include pain (which can affect the extremities, the entire body, or the digestive tract), kidney dysfunction, abnormalities of the heart valve and heart rhythms, fatigue, inability to sweat, and angiokeratomas (small red dots that appear on the skin). Treatments include enzyme replacement therapy, treatments to address organ specific problems, and Galafold. Galafold is effective in roughly 50 percent of patients, and only works for patients with certain types of mutations. Enzyme replacement therapy can help partially halt or reverse disease progression. To learn more about Fabry disease, click here.
The Lobanov Family’s Story
The family had suffered from health problems for a while before being diagnosed in 2016. In total, seven family members was diagnosed with the illness. Unsurprisingly, the treatments available for Fabry disease are expensive, running about $100,000 per year. When the family appealed for treatment coverage, the health ministry denied their claim, ostensibly because they believed that the clinic’s diagnosis was incorrect; however, the great cost of the medicine might have given them pause also.
Some of the family were able to get access to treatment for about six months from a non-profit group, but once this resource dried up, they were out of options; an uncle in the family died at age 51 because of Fabry disease. Unfortunately, it took the death of a family member for the health ministry to take the Lobanov’s pleas seriously. The health authority recently reached out to the family to inform them that the medication would be shipped to their local clinic soon.