Progeria also known as Hutchinson-Gilford progeria syndrome (HGPS), is a rare genetic condition that causes a child’s body to age fast. Most kids with progeria do not live past the age of 1003, but some with the disease die younger and some live 20 years or longer.. The disease affects both sexes and all races equally. It affects about 1 in every 4 million births worldwide. A single mistake in a certain gene causes it to make an abnormal protein. When cells use this protein, called progerin, they break down more easily. Progerin builds up in many cells of kids with progeria, causing them to grow old quickly.
Progeria is not inherited, or passed down in families.
Most kids with progeria look healthy when they’re born, but they start to show signs of the disease during their first year. Babies with progeria do not grow or gain weight normally. They develop physical traits including:
- A bigger head
- Large eyes
- A small lower jaw
- A thin nose with a “beaked” tip
- Ears that stick out
- Veins you can see
- Slow and abnormal tooth growth
- A high-pitched voice
- Loss of body fat and muscle
- Hair loss, including eyelashes and eyebrows
As children with progeria get older, they get diseases you’d expect to see in people age 50 and older, including bone loss, hardening of the arteries, and heart disease. Children with progeria usually die of heart attacks or strokes. Progeria doesn’t affect a child’s intelligence or brain development at all. A child with the condition isn’t any more likely to get infections than other kids, either.
- Since the symptoms are very noticeable, it’s likely that your child’s pediatrician will spot them during a routine checkup and potentially get you on something like a developmental therapy platform or an advanced care team.
- If you see changes in your child that seem like symptoms of progeria, make an appointment with your pediatrician or family doctor.
- Your doctor will do a physical exam, test hearing and vision, measure pulse and blood pressure, and compare your child’s height and weight to other kids the same age.
- Afterward, if your pediatrician is concerned, you may need to see a specialist in medical genetics, who can confirm the diagnosis with a blood test.
At this time, there’s no cure for progeria, but researchers are working on finding one. A kind of cancer drug, FTIs (farnesyltransferase inhibitors), may fix the damaged cells. Treatments usually help ease or delay some of the disease’s symptoms.
- The child’s doctor may prescribe drugs to lower cholesterol or prevent blood clots.
- A low dose of aspirin every day can help prevent heart attacks and stroke.
- Growth hormone can help build height and weight.
- Physical and occupational therapy can help the child keep moving if they have stiff joints or hip problems.
Some children may have coronary bypass surgery or angioplasty to slow the progression of heart disease.
- Kids with progeria are more likely to get dehydrated, so they need to drink plenty of water, especially when they’re sick or it’s hot.
- Small meals more often can help them eat enough, too.
- Cushioned shoes or inserts can ease discomfort and encourage your child to play and stay active.
Wiedemann-Rautenstrauch syndrome and Werner syndrome, which are similar to progeria, do tend to be inherited. Both of these rare syndromes also cause rapid aging and a shortened life span.
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- Only 118 children have been identified as having progeria in the world today.
- One of the most remarkable aspects of progeria is that it does not affect the mind.
- The Progeria Research Foundation, however, estimated there are over 250 such children fighting this disease of which 60 are from India.
Who is Nihal Bitla?
- Nihal Bitla, who became face of progeria campaign in India, dies at 15, on May 4 2016.
- Nihal had become the face of progeria campaign in India after he, along with his family, took up the challenge of raising awareness about the disease and of finding more such cases for medical intervention in the country.
- Fighting a rare disease that aged him eight times faster, the country’s first reported case of progeria.
- Nihal, who was part of a clinical trial for Lonafarnib drug in Boston to check whether the drug could delay aging, had posted his pictures on Facebook and Twitter to reach out to parents, specially in rural areas, and help them know what progeria is.