Depending on the initial signs and symptoms your infant or child exhibits, you may first be seen in an emergency room, or by your family doctor or pediatrician. However, ongoing care for Krabbe disease is usually provided by a doctor who specializes in disorders of the nervous system (neurologist).
Here's some information to help you get ready for your child's appointment, and what you can expect from your child's doctor.
What you can do
- Write down any symptoms your child is experiencing, including any that may seem unrelated to the reason for which you scheduled the appointment.
- Write down key personal information, especially any known family history of Krabbe disease.
- Ask a family member or friend to join you, if possible. Sometimes it can be difficult to remember all of the information you're given during an appointment. Someone who accompanies you may remember something that you missed or forgot, or they may think to ask questions you hadn't thought to bring up.
- Write down questions to ask your doctor.
Preparing a list of questions ahead of time can help you make sure you cover the points that are most important to you. For Krabbe disease, some basic questions to ask your doctor include:
- What's the most likely cause of my child's symptoms?
- Are there any other possible causes?
- What kinds of tests does my child need?
- Do these tests require any special preparation?
- Will my child need to be sedated for testing?
- What treatments are available for Krabbe disease?
- What treatment would you recommend for my child?
- What types of side effects does this treatment commonly cause?
- Are there any alternatives to the primary approach that you're suggesting?
- What's my child's prognosis?
- Would physical or occupational therapy help my child?
- Are there any brochures or other printed material that I can take home with me? Can you recommend any reliable websites?
In addition to the questions that you've prepared to ask your doctor, don't hesitate to ask questions during your appointment at any time that you don't understand something.
What to expect from your doctor
Your doctor is likely to ask you a number of questions, such as:
Jun. 11, 2011
- When did you first notice your child's symptoms?
- Have these symptoms been continuous or occasional?
- Does anything seem to improve or worsen your child's symptoms?
- Do you know if anyone on either side of your child's family has ever been diagnosed with Krabbe disease?
- Has anyone on either side of your child's family ever mentioned an unexplained death of an infant in the family?
- Krabbe disease. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/krabbe-disease. Accessed April 20, 2011.
- Krabbe disease information page. National Institute of Neurological Disorders and Stroke. http://www.ninds.nih.gov/disorders/krabbe/krabbe.htm. Accessed April 20, 2011.
- Duffner PK. The long-term outcomes of presymptomatic infants transplanted for Krabbe disease. Genetics in Medicine. 2009;11:450.
- Ropper AH, et al. Inherited metabolic diseases of the nervous system. In: Ropper AH, et al. Adams and Victor's Principles of Neurology. 9th ed. New York, N.Y.: The McGraw-Hill Companies; 2009. http://www.accessmedicine.com/resourceTOC.aspx?resourceID=54. Accessed March 3, 2011.
- Krabbe disease. United Leukodystrophy Foundation. http://www.ulf.org/types/krabbe.html. Accessed April 20, 2011.
- Sakai N. Pathogenesis of leukodystrophy for Krabbe disease: Molecular mechanism and clinical treatment. Brain & Development. 2009;31:485.
- Duffner PK, et al. Newborn screening for Krabbe disease: The New York state model. Pediatric Neurology. 2009;40:245.
- Kemper AR, et al. Weighing the evidence for newborn screening for early-infantile Krabbe disease. Genetics in Medicine. 2010;12:539.
- National newborn screening status report. National Newborn Screening and Genetics Resource Center. http://genes-r-us.uthscsa.edu/nbsdisorders.pdf. Accessed April 20, 2011.
- Wenger DA. Krabbe disease. In: Pagon RA, et al. GeneReviews. http://www.ncbi.nlm.nih.gov/books/NBK1238/. Accessed April 20, 2011.
- Renaud DL (expert opinion). Mayo Clinic, Rochester, Minn. May 3, 2011.