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

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Mini Bib -

  • healthline.com
  • babysfirsttest.org
  • medicaldaily.com