What Is Progeria?

The disease was named after the scientists who discovered the disease in 1886, Dr. Jonathon Hutchinson and Dr. Hastings Gilford. Progeria occurs in 1 out of 4-8 million newborns. The name comes from the Greek word “Progeria”, which means “prematurely old”. This syndrome is an autosomal dominant condition, which means the gene has to be inherited from only one parent for the child to be affected. Progeria occurs when a child is born with a defective gene called LMNA. The gene LMNA is found in Chromosome 1. LMNA is supposed to produce proteins called Lamin A, which is responsible for holding the cell’s nucleus together. A child with progeria’s LMNA makes an abnormal Lamin A protein that causes the nucleus to become unstable. The unstable nucleus
Although, people with Progeria look normal at birth, most patients are diagnosed when approximately 2.9 years old. In terms of intellectuality, the patients appear normal; but their unique physicality is what establishes the presence of the disease. At about one year old, noticeable symptoms begin to appear. Patients with Progeria will show signs of hair loss, the presence of small blue veins on their forehead and/ or nose, and big/ bulging eyes. In addition to these symptoms, leathery skin will appear on the stomach and chest area. From 2 years and on, several symptoms will be revealed in length and weight, growth, skin, hair, fat, veins, joints, jaw, bone tissue, hands/feet, collarbones, face, skull, mobility, heart, and blood
Progeria children have an increased risk for diseases and conditions typically found in adults such as strokes and angina, which is tightness in the chest, arms, or shoulders due to inadequate blood flow to the heart. These conditions typically need the various medications, along with oxygen supplements and IV fluids. Despite actually eating enough healthy and high calorie foods to grow normally, Progeria patients grow at a slow and steady rate. On top of their healthy diet, patients drink various smoothie and shake supplements like Pediasure to help them grow. Eye issues are managed easily but can be serious if not treated. Dry eye is typical, and can cause keratitis if the eyes are not moistened with artificial tears. Keratitis is characterized by cloudy eyesight and can grow over time to block sight. Many patients also need glasses for farsightedness. Dry and itchy skin is frequently seen in patients and can be calmed by gentle cleansers and over the counter creams. Patients have smaller, weaker bones and their bone mineral density is mildly low to low-normal compared to their peers and usually need to walk, run, and jump to keep a good bone density. Patients are at a greater risk for injury, such as fractures, if they fall or hit while playing. Patients usually need physical therapy so they can stay as mobile as possible. Therapeutic exercises and physical activity such as