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Preparing for your appointment
By Mayo Clinic staffProgeria 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 evaluating your child, your doctor may refer him or her 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 you soak up 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
- Looking for visible signs and symptoms that are typical of progeria
Your doctor also may ask you to describe the symptoms you've noticed in your child, and for how long.
Don't hesitate to ask any questions that occur to you during your conversation 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 will help your doctor develop a comprehensive list of topics to investigate before you meet again.
- Learning about progeria. National Genome Research Institute. http://www.genome.gov/11007255. Accessed March 5, 2009.
- Progeria. National Institutes of Health. http://www.nih.gov/about/researchresultsforthepublic/Progeria.pdf. Accessed March 5, 2009.
- Progeria (Hutchinson-Gilford syndrome). The Merck Manuals Online Medical Library: The Merck Manual for Healthcare Professionals. http://www.merck.com/mmpe/sec19/ch286/ch286d.html. Accessed March 5, 2009.
- Brown TW. Progeria. In: Kliegman RM, et al. Kliegman: Nelson Textbook of Pediatrics. 18th ed. Saunders Elsevier; 2007. http://www.mdconsult.com/book/player/book.do?method=display&type=bookPage&decorator=header&eid=4-u1.0-B978-1-4160-2450-7..50092-X&uniq=124224571&isbn=978-1-4160-2450-7&sid=812951456. Accessed March 5, 2009.
- Brown TW. Hutchinson-Gilford progeria syndrome. National Institutes of Health: Gene Reviews. http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=hgps. Accessed March 5, 2009.
- Hutchison-Gilford progeria syndrome. Genetics Home Reference. http://ghr.nlm.nih.gov/condition=hutchinsongilfordprogeriasyndrome. Accessed March 5, 2009.
- Anti-cancer drug prevents, reverses cardiovascular damage in mouse model of premature aging disorder. National Institutes of Health. http://www.nih.gov/news/health/oct2008/nhgri-06.htm. Accessed March 5, 2009.
- Martini R. Helping children cope with chronic illness. American Academy of Child and Adolescent Psychiatry. Accessed March 5, 2009.
