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 could be 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 prepare for your appointment.
What you can do
Before your appointment:
- Make a list of any signs and symptoms your child has been experiencing, and for how long.
- Prepare questions you want to ask your doctor.
- Ask a trusted family member or friend to join you for your child's appointment. It may be difficult to focus on what the doctor says after hearing the diagnosis. Take someone along who can offer emotional support and help you remember the information.
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?
- 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 underway 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 exam of your child, including:
- Measuring height and weight
- Plotting measurements on a normal growth curve chart
- Testing hearing and vision
- Measuring vital signs, including blood pressure
- Looking for visible signs and symptoms that are typical of progeria
Don't hesitate to ask questions. 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 list of topics to investigate.
During follow-up visits, your child's weight and height will be measured and plotted on a chart of normal growth values. Additional regular evaluations, including electrocardiograms and dental, vision and hearing exams, may be recommended by your doctor to check for changes.
May 03, 2014
- Dorland's Illustrated Medical Dictionary. 32nd ed. Philadelphia, Pa.: W.B. Saunders; 2011. http://dorlands.com/index.jsp. Accessed Jan. 29, 2014.
- Learning about progeria. National Human Genome Research Institute. http://www.genome.gov/11007255. Accessed Jan. 29, 2014.
- Progeria (Hutchinson-Gilford syndrome). The Merck Manuals: The Merck Manual for Health Care Professionals. http://www.merckmanuals.com/professional/pediatrics/miscellaneous_disorders_in_infants_and_children/progeria.html. Accessed Jan. 29, 2014.
- Disorders of accelerated aging. The Merck Manuals: The Merck Manual for Patients and Caregivers. http://www.merckmanuals.com/home/older_peoples_health_issues/the_aging_body/disorders_of_accelerated_aging.html. Accessed Jan. 29, 2014.
- When your child is diagnosed with chronic illness: How to cope. American Psychological Association. https://www.apa.org/helpcenter/chronic-illness-child.aspx. Accessed Jan. 29, 2014.
- Coping with chronic illness. American Academy of Pediatrics. http://www.healthychildren.org/English/health-issues/conditions/chronic/pages/Coping-With-Chronic-Illness.aspx. Accessed Jan. 29, 2014.
- Progeria. National Institutes of Health. http://report.nih.gov/NIHfactsheets/ViewFactSheet.aspx?csid=59&key=P#P. Accessed Jan. 29, 2014.
- Gordon LB, et al. Hutchinson-Gilford progeria syndrome. GeneReviews (Internet). http://www.ncbi.nlm.nih.gov/books/NBK1121/. Accessed Jan. 29, 2014.
- Coppede F. Premature aging syndrome. Advances in Experimental Medicine and Biology. 2012;724:317.
- Kirmani S (expert opinion). Mayo Clinic, Rochester, Minn. Feb. 19, 2014.
- Johnson JN (expert opinion). Mayo Clinic, Rochester, Minn. Feb. 23, 2014.