Progeria (pro-JEER-e-uh) is a progressive genetic disorder that causes children to age rapidly, beginning in their first two years of life.
Children with progeria, also known as Hutchinson-Gilford progeria syndrome (HGPS), generally appear normal at birth. By 12 months, signs and symptoms, such as slow growth and hair loss, begin to appear. The average life expectancy for a child with progeria is about 13, but some with the disease die younger and some live 20 years or longer.
Heart problems or strokes are the eventual cause of death in most children with progeria. There's no cure for this condition, but ongoing research shows some promise for treatment.
Usually within the first year of life, growth of a child with progeria slows markedly so that height and weight fall below average for his or her age. Motor development and intelligence remain normal.
Signs and symptoms of this progressive disorder include:
When to see a doctor
Researchers have discovered a single gene mutation responsible for Hutchinson-Gilford progeria syndrome. The gene is known as lamin A (LMNA), which makes a protein necessary for holding the center (nucleus) of a cell together. Researchers believe the genetic mutation renders cells unstable, which appears to lead to progeria's characteristic aging process.
Unlike many genetic mutations, Hutchinson-Gilford progeria isn't passed down in families. Rather, the gene change is a chance occurrence that researchers believe affects a single sperm or egg just before conception. Neither parent is a carrier, so the mutations in the children's genes are new (de novo).
Other similar syndromes
Children with progeria usually develop severe hardening of the arteries. This is a condition in which the walls of their arteries — blood vessels that carry nutrients and oxygen from the heart to the rest of the body — stiffen and thicken, often restricting blood flow.
Most children with progeria die of complications related to atherosclerosis, including:
Other health problems that are frequently associated with aging — such as far-sightedness and Alzheimer's disease — do not develop as part of the course of progeria.
Preparing for your appointment
Progeria is usually detected in infancy or early childhood when a baby first shows the characteristic signs of premature aging. It's likely that your family doctor or your child's pediatrician will notice these signs and symptoms during regular checkups.
If you first notice changes in your child that are similar to the signs and symptoms of progeria, make an appointment with your child's doctor. After evaluation, your child may be referred to a medical genetics specialist.
Here's some information to help you get well prepared for your appointment.
What you can do
For progeria, some basic questions to ask your doctor include:
What to expect from your doctor
Your doctor may also ask you to describe symptoms you've noticed in your child, and for how long.
Don't hesitate to ask questions during your appointment with your doctor. Progeria is a very rare disease, and it's likely that your doctor will need to gather more information before determining next steps in caring for your child. Your questions and concerns can help your doctor develop a comprehensive list of topics to investigate before you meet again.
During follow-up visits, your child's weight and height will be measured and plotted on a chart of normal growth values.
Tests and diagnosis
Doctors may suspect progeria based on signs and symptoms such as:
To confirm the diagnosis, your doctor will order:
Treatments and drugs
There's no cure for progeria. Regular monitoring for cardiovascular disease may help with managing your child's condition. Some children undergo coronary artery bypass surgery or dilation of cardiac arteries (angioplasty) to slow the progression of cardiovascular disease.
Certain therapies may ease or delay some of the signs and symptoms. They include:
Lifestyle and home remedies
Some steps you can take at home that may help your child include:
Coping and support
Learning your child has progeria can be emotionally devastating. Suddenly you know that your child is facing numerous, difficult challenges and a shortened life span. For you and your family, coping with the disorder involves a major commitment of physical, emotional and financial resources.
In dealing with a disorder such as progeria, support groups can be a valuable part of a wider network of social support that includes health care professionals, family and friends. In a support group, you'll be with people who are facing challenges similar to the one that you are. Talking to group members can help you cope with your own feelings about your child's condition. If a group isn't for you, talking to a therapist or clergy member may be beneficial.
Ask your doctor about self-help groups or therapists in your community. Your local health department, public library, telephone book and the Internet also may be good sources for finding a support group in your area. Because progeria is so rare, you may not be able to find a progeria-specific support group, but you may be able to find a group for parents of children with chronic illness. The Progeria Research Foundation may be able to help you connect with other families coping with progeria. The Foundation can be reached at 978-535-2594.
Helping your child cope
It's critical that you are able to talk openly and honestly with your child, and offer reassurance that's compatible with your belief system. Ask your doctor, therapist or clergy member to help you prepare for such conversations with your child. Friends who you meet through support groups also may be able to offer valuable guidance.
Your child might also benefit from talking to a therapist or clergy member.
Last Updated: 2011-04-23
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