By Amanda Ojeda
Image courtesy of Dr. Susan Parkhurst
350-400 children around the world suffer from a genetic syndrome called Progeria. Progeria is a type of progeroid syndrome, with a more specific name of Hutchinson-Gilford syndrome. With a genetic mutation in the lamin A (LMNA), a protein involved in holding together the center of the cell, premature aging occurs.
Mainly children suffer from progeria, but not many adults. The truth of the matter is that many children with Progeria do not get to live past the age of 15 because their body is deteriorating rapidly. This new FDA approved drug, Zokinvy, once taken over a period of many years, can extend their life expectancy by 2-3 years. Though it is not a cure, three years is long enough for some of these children to earn a high school diploma, which before Zokinvy would not be a likely possibility.
Kids could be diagnosed with this genetic syndrome as early as 9 months old by showing slow development. Symptoms are below average height and weight, hair loss, hearing loss, loss of fat and muscle mass, fragile bones and stiff joints, and insulin resistance. As they grow older they are at an increased risk of cancer, arthritis, and cataracts. However, the main causes of death in people with progeria are caused by atherosclerosi, which is the hardening of arteries causing restriction in blood flow. This leads to cardiovascular disease and cerebrovascular disease.
The symptoms listed above imply that many accommodations must be made in order for these children to lead the healthiest and happiest lives possible. In a handbook chapter titled “Going to School”, created by the Progeria Research Foundation, they list the best ways teachers and staff can make accommodations for children with the incredibly rare condition. This includes monitoring writing fatigue and supplying a computer for when needed, lowering desks and chairs so feet can touch the floor and have minimal joint pain, and provide frequent physical therapy meetings within the school.
Overall, the struggles of progeria are unimaginable to most of the human population. It is important to include them in social activities and provide them with the same opportunities as others. It is also up to us to increase awareness about this recently FDA approved treatment to prove the power of research. While Zokinvy may not be a cure, it is the first step to ensuring better treatments and a possible cure for people suffering from progeria.