It's likely that your family doctor or your child's pediatrician will notice signs and 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 dosages of any medications, vitamins, herbs or other supplements.
- Questions you want to ask the doctor.
Some basic questions to ask the doctor 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 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 this condition?
What to expect from your doctor
Your doctor is likely to ask you a number of questions. Be ready to answer them to reserve time to go over points you want to focus on.
- When did you first notice that something may be wrong?
- What signs and symptoms have you noticed?
- Has your child been diagnosed with any notable diseases or conditions? If so, what was the treatment?
- How is your family coping?
April 27, 2017
- National Library of Medicine. Hutchinson-Gilford progeria syndrome. Genetics Home Reference. https://ghr.nlm.nih.gov/condition/hutchinson-gilford-progeria-syndrome. Accessed Feb. 1, 2017.
- Learning about progeria. National Human Genome Research Institute. https://www.genome.gov/11007255/learning-about-progeria/. Accessed Feb. 1, 2017.
- Hutchinson-Gilford progeria. National Organization for Rare Disorders. https://rarediseases.org/rare-diseases/hutchinson-gilford-progeria/. Accessed Feb. 1, 2017.
- Progeria (Hutchinson-Gilford syndrome). Merck Manual Professional Version. http://www.merckmanuals.com/professional/pediatrics/miscellaneous-disorders-in-infants-and-children/progeria. Accessed Feb. 1, 2017.
- Progeria. National Institutes of Health. https://report.nih.gov/nihfactsheets/viewfactsheet.aspx?csid=59. Accessed Feb. 1, 2017.
- Chronic illness and children. American Academy of Child and Adolescent Psychiatry. https://www.aacap.org/AACAP/Families_and_Youth/Facts_for_Families/FFF-Guide/The-Child-With-A-Long-Term-Illness-019.aspx. Accessed Feb. 1, 2017.
- Swahari V, et al. Speeding up the clock: The past, present and future of progeria. Development, Growth and Differentiation. 2016;58:116.
- The progeria handbook: A guide for families and health care providers of children with progeria. Progeria Research Foundation. http://www.progeriaresearch.org/patient_care.html. Accessed Feb. 1, 2017.
- Johnson JN (expert opinion). Mayo Clinic, Rochester, Minn. March 6, 2017.