Preparing for your appointmentBy Mayo Clinic staff
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
- Write down any signs and symptoms your child has been experiencing, and for how long.
- Ask a trusted family member or friend to join you for your child's appointment. If your child is diagnosed with progeria, you may have great difficulty focusing on anything the doctor says after making the diagnosis. Take someone along who can offer emotional support and can help retain all the information.
- Write down the questions you want to be sure to ask your doctor.
For progeria, some basic questions to ask your doctor include:
- What is likely causing my child's signs and symptoms?
- Are there any other possible causes for these symptoms?
- What kinds of tests does my child need?
- Are treatments available for this condition?
- What are the complications of this condition?
- What can be done to relieve my child's symptoms?
- Are my other children or family members at increased risk of this condition?
- Are there clinical trials under way for which my child may be eligible?
- Do you recommend that my child see a specialist?
- How can I find other families who are coping with progeria?
What to expect from your doctor
Your doctor will perform a thorough physical examination of your child, including:
- Measuring your child's height
- Weighing your child
- Plotting your child's measurements on a normal growth curve chart
- Testing your child's hearing and vision
- Measuring vital signs, including blood pressure
- Looking for visible signs and symptoms that are typical of progeria
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.
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- Progeria (Hutchinson-Gilford syndrome). The Merck Manuals: The Merck Manual for Healthcare Professionals. http://www.merck.com/mmpe/sec19/ch286/ch286d.html. Accessed March 4, 2011.
- Brown TW. Hutchinson-Gilford progeria syndrome. In: Pagon RA, et al., eds. GeneReviews. Seattle, Wash.: University of Washington; 1993. http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=hgps. Accessed March 4, 2011.
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- Hoecker JL (expert opinion). Mayo Clinic, Rochester, Minn. March 6, 2011.