In some cases, Krabbe disease is diagnosed in newborns with screening tests before symptoms appear. Conversations with your child's doctor and a specialist in nervous system disorders (neurologist) would begin as soon as a diagnosis is confirmed. In most cases, however, the onset of symptoms triggers an exploration of possible causes.
It's important to take your child to all regularly scheduled well-baby visits and annual appointments during childhood. These visits are an opportunity for your child's doctor to monitor your child's development in key areas, including:
- Muscle tone
- Muscle strength
- Age-appropriate motor skills
- Sensory abilities — vision, hearing and touch
Questions you should be prepared to answer during regular checkups might include the following:
- What concerns do you have about your child's growth or development?
- How well does he or she eat?
- How does your child respond to touch?
- Is your child reaching certain milestones in development, such as rolling over, pushing up, sitting up, crawling, walking or speaking?
Preparing for other doctor visits
If you're seeing your doctor because of the recent onset of symptoms, you'll likely start by seeing your general practitioner or your child's pediatrician. After an initial evaluation, your doctor may refer you to a neurologist.
Be prepared to answer the following questions about your symptoms or on your child's behalf:
- What signs or symptoms have you noticed? When did they begin?
- Have these signs or symptoms changed over time?
- Do you notice any changes in your child's attentiveness?
- Has your child had a fever?
- Have you noticed unusual or excessive irritability?
- Have you noticed changes in eating habits?
Questions especially for older children or adults may include:
June 03, 2014
- Has your child experienced any changes in school performance?
- Have you experienced difficulty with normal tasks or job-related work?
- Are you or is your child being treated for any other medical conditions?
- Have you or your child recently begun a new medication?
- Miranda CO, et al. Advances and pitfalls of cell therapy in metabolic leukodystrophies. Cell Transplantation. 2013;22:189.
- Pagon RA, et al. GeneReviews. http://www.ncbi.nlm.nih.gov/books/NBK1238/. Accessed Feb. 28, 2014.
- Krabbe disease. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/krabbe-disease. Accessed Feb, 28. 2014.
- Ropper AH, et al. Adams & 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.
- Sakai N. Pathogenesis of leukodystrophy for Krabbe disease: Molecular mechanism and clinical treatment. Brain & Development. 2009;31:485.
- Suzuki K. Globoid cell leukodystrophy (Krabbe's disease): Update. Journal of Child Neurology. 2003;18:595.
- Krabbe disease. United Leukodystrophy Foundation. http://ulf.org/krabbe-disease. Accessed Feb. 28, 2014.
- Kohlschutter A, et al. Childhood leukodystrophies: A clinical perspective. Expert Review of Neurotherapeutics. 2011;11:1485.
- National newborn screening status report. National Newborn Screening and Genetics Resource Center. http://genes-r-us.uthscsa.edu/sites/genes-r-us/files/nbsdisorders.pdf. Accessed March 10, 2014.
- Duffner PK, et al. Early infantile Krabbe disease: Results of the World-Wide Krabbe Registry. Pediatric Neurology 2011;45:141.
- Kemper AR, et al. Weighing the evidence for newborn screening for early-infantile Krabbe disease. Genetics in Medicine: Official Journal of the American College of Medical Genetics. 2010;12:539.
- Duffner PK, et al. The long-term outcomes of presymptomatic infants transplanted for Krabbe disease: Report of the workshop held on July 11 and 12, 2008, Holiday Valley, New York. Genetics in Medicine. 2009;11:450.
- Renaud DL (expert opinion). Mayo Clinic, Rochester, Minn. April 1, 2014.
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