Krabbe's DiseaseBy Jonathan Cabeza

Scientific name: (Globoid Cell Leukodystrophy, GLD)

Krabbe's Disease

Cause of the diseaseKrabbe disease is an

inherited enzyme deficiency that leads to the loss of myelin. Myelin is a substance that wraps nerve cells and speeds cell communication. Krabbe disease is a recessive disorder.

Target PopulationThe Krabbe's disease

happens mainly on infants which most of the time die at the age of two. Although it is most common to find this disease in infants there are a few rare occasions that this disease can happen in teenagers and adults.

Approximately one in every 100,000 infants born in the U.S or Europe have Krabbe's disorder.

Where? Where (CNS): Krabbe's

disorder affect the CNS by affecting muscle tone and movement. Also, by making your CNS work slower.

Where (PNS): Krabbe's disorder affects an enzyme called Galactocerebrosidase ( GALC). Lack of GALC can damage cells in your brain by letting the cells produce toxins that affects that nerves.

How?How (CNS): As the diseases

progresses, muscles began to weaken, affecting the individual ability to walk, move, chew, swallow, and breath.

How (PNS): People with Krabbes lacks of Myelin which is made up of proteins and phospholipids. Myelin mission is to make sure our nerves work correctly.

Without Myelin our PNS would slow down and it can affect the functions of most of the nerves in our body.

Symptoms Trouble eating Possible Seizures Loss of mental and

muscle function Lose the ability to see

and hear Can't walk, talk, or

eat Slow reaction time Fever Crying for no reason Difficulty of sleep

PrognosisThe Prognosis for infantile

and juvenile Krabbe disease is very poor. Individuals with infantile type usually die at an average age of 13 months. Death usually occurs within a year after the child shows symptoms and is diagnosed. Children with juvenile type may survive longer after diagnosis but death usually occurs within a few years.

Adult Krabbe disease is more variable and difficult to predict but death usually occurs two to seven years after diagnosis.

• As of today there is no cure available for this disease. • Some things can be done in order to make the

person more comfortable as possible.• Medications can be given to control seizures. When

the individual cannot longer eat normally, feeding tubes can be placed to provide proper nutrition.

• Individual who has this disease but are diagnosed before developing symptoms can undergo bone marrow transplant or stem cell transplant. The goal of these procedures is to destroy the bone marrow which produces the blood and immune system cells. This is done to slow down the symptoms or relieve some pain.

Cure

James Edward Kelly

•After his football career James has devoted most of his time to his son Hunter who was diagnose with Krabbe's disease.

• In 1997, James established a non-profit organization in order to help other people with this disease.

• James's son died in 2005 since then he and his wife have promised to keep fighting against this disease.

Organizations• The Myelin Project: A

non-profit organization established in 1989 by Augusto and Michaela Odone with the goal of accelerating research on Myelin repair. This organization is sponsor by parents who have lost their children to this horrible disease.

• Hunter's Hope Foundation: This organization mission is to teach people about this disease. Also to help those families who lost their love ones. Most important is to fund research in order to find a cure.

http://youtu.be/DzuvW3pgZLM

Video

Wynbrandt., J & Ludman, M. (2000). Krabbe Disease. In C. Rincon (Ed.), The Encyclopedia Of Genetic Disorders and Birth Defects (2nd ed.). New York, NY: Facts On File INC.

Guha, M. (1999). Krabbe Disease. In D. Olendorf, C. Jeryan & K. Boyden (Eds.). The Gale Encyclopedia Of Medicine (Vol. 3). Farmington Hills, MI: Gale Encyclopedia Of Medicine.

Cashin Garbutt, A. (n.d.). krabbe disease- what is krabbe disease? . Retrieved from http://www.news- medical.net/health/Krabbe-disease-e28093-what-is- Krabbe-disease.aspx

Credible resources

Petsko, G. (2011, July 220. Insights into krabbe disease from structures of galactocerebrosidase.Retrieved from http://www.pnas.org/content/108/37/15169 .full

Levasheff, J. (2008). Krabbe leukodystrophy (before & after): Judson (Web). Retrieved from http://www.youtube.com/watch?v=DzuvW3pgZLM

Credible Resources Continue