Progeria

There’s no cure for progeria. But regular monitoring for heart and blood vessel disease may help with managing your child’s condition.

During medical visits, your child’s weight and height are measured and put on a chart that shows average measurements of children who are your child’s age. Routine evaluations often include electrocardiograms and echocardiograms to check the heart, imaging tests, such as X-ray and MRI, and dental, vision and hearing exams.

Certain therapies may ease or delay some of the symptoms of progeria. Treatments depend on your child’s condition and symptoms. These may include:

• Lonafarnib (Zokinvy). This oral medicine helps prevent the buildup of faulty progerin and progerin-like proteins in cells. Preventing this buildup in cells can slow the progression of symptoms that occur in progeria, which can help some children live longer. The medicine is approved by the U.S. Food and Drug Administration for children 1 year and older.
• Low-dose aspirin. A daily dose may help prevent heart attacks and strokes.
• Other medicines. Depending on your child’s condition, the health care provider may prescribe other medicines to treat complications. These may include dietary therapy, possibly with statins to help blood vessels and heart function. Also, blood thinners to help prevent blood clots. Medicines to treat headaches and other symptoms may be needed.
• Physical and occupational therapy. Physical therapy can help with joint stiffness and hip problems to help your child remain active. Occupational therapy can help your child learn ways to manage daily activities, such as dressing, brushing teeth and eating.
• Nutrition. A balanced diet that includes healthy, high-calorie foods can help maintain adequate nutrition. Sometimes nutrition supplements are needed to provide extra calories.
• Hearing aids. Although low-frequency hearing loss does not usually affect daily activities, sometimes listening devices or hearing aids are needed.
• Eye and vision care. Not being able to close eyelids completely can cause dry eyes and damage to the surface of the eye. Moisturizing eye products and regular vision care can help.
• Dental care. Dental problems are common in progeria. Regular visits with a pediatric dentist experienced with progeria can treat problems early.

Future treatment

Current research seeks to understand progeria and identify new treatment options. Some areas of research include:

• Studying genes and the course of the condition to understand how it progresses. This may help identify new treatments.
• Studying ways to prevent heart and blood vessel disease.
• Testing more medicines for treatment of progeria.

Here are some steps you can take at home to help your child:

• Make sure your child drinks plenty of water. Loss of water, called dehydration, can be more serious in children with progeria. Dehydration is when your body doesn’t have enough water and other fluids to carry out normal functions. Be sure your child drinks plenty of water and other fluids, especially during an illness, with activity or in hot weather.
• Provide frequent, small meals. Because nutrition and growth can be an issue for children with progeria, giving your child smaller meals more often may help provide more calories. Add healthy, high-calorie foods and snacks as needed. Talk with your health care provider about nutritional supplements. Visits with a registered dietitian can help.
• Provide opportunities for regular physical activity. Check with your child’s health care provider to learn which activities are safe and healthy for your child.
• Get cushioned shoes or shoe inserts for your child. Loss of body fat in the feet can cause discomfort.
• Use sunscreen. Use a broad-spectrum sunscreen with an SPF of at least 30. Apply sunscreen generously, and reapply it every two hours. Apply sunscreen more often if your child is swimming or sweating.
• Make sure your child is up to date on childhood vaccinations. A child with progeria isn’t at increased risk of infection. But like all children, your child is at risk if exposed to infectious diseases.
• Provide learning and social opportunities. Progeria won’t affect your child’s intellect. Your child can attend school at an age-appropriate level. Some adjustments for size and physical ability may be needed.
• Make changes at home to allow independence. You may need to make some changes at home that allow your child to have some independence and to be comfortable. These can include ways to allow your child to reach items such as faucets or light switches. Your child may need clothes with special closures or in special sizes. Extra padding for chairs and beds can increase comfort.

It’s likely that your family health care provider or your child’s pediatrician will notice symptoms of progeria during regular checkups. After evaluation, your child may be referred to a medical genetics specialist.

Here’s some information to help you prepare for your appointment.

What you can do

To get ready for your appointment, make a list of:

• Any signs and symptoms your child has been experiencing, and for how long.
• Your child’s key medical information, including recent illnesses, any medical conditions, and the names and doses of any medicines, vitamins, herbs or other supplements.
• Questions you want to ask the health care provider.

Some questions to ask may include:

• What is likely causing my child’s signs and symptoms?
• Are there any other possible causes?
• What kinds of tests does my child need?
• Are treatments available for this condition?
• What are the complications of this condition?
• Are my other children or family members at increased risk of this condition?
• Are there clinical trials that my child might be able to join?
• Do you recommend that my child see a specialist?
• How can I find other families who have a child with this condition?

What to expect from your doctor

Your health care provider is likely to ask you several questions, such as:

• When did you first notice that something may be wrong?
• What signs and symptoms have you noticed?
• Has your child been diagnosed with any diseases or conditions? If so, what was the treatment?
• How is your family coping?

Be ready to answer questions so that you’ll have time to talk about what’s most important to you.