Krabbe Disease
Genetic Disorder
What is it?
-Rare and deadly disease in the nervous system
-Passed down by parents
-Can't get enough galactosylceramidase (enzyme)
-Autosomal recessive
-found on chromosome pair 14
Age Onset and Symptoms
-Early onset - infants die before two
- fevers, vomiting, loss of head control, irritability and excessive crying, severe seizures, spasms, deterioration of mental and motor function, deafness, and blindness
-Late onset - begins in late childhood, early adolescent
- vision problems, rigid muscles walking difficulties
NOT gender specific; it can happen to males or females
Their different life
-Anyone with Krabbe disease can't do much, they need a lot of health care and assistance
Treatments:
- Anticonvulsant medication for siezures
- Other drugs to help with muscle spasms
- Physical therapy
- occupational therapy
Current events:
- Early onset - blood transplants from an umbilical cord helps treat the disease
(name was unavailable)
-"Hope for Hannah" and "Hannah's Law" to help fund help for Krabbe Disease
Mini Bib -
- healthline.com
- babysfirsttest.org
- medicaldaily.com