krabbes+zackm

media type="custom" key="9500028"
 * Description:**

**Inheritance: **  Krabbes Disease is inherited in an autosomal recessive pattern which means witch means that a child receives a defected copy from both parents. Krabbes disease causes a genetic defect in an enzyme called galoctorerebrosidese/GALC. Enzyme is essential for the maintenance of myelin a fatty substance that insulates your nerve fibers.

**Symptoms: ** Changing muscle tone floppy, Rigid, Hearing loss, Failure to thrive, Feeding difficulties, Irritability and sensitive, Sounds, Severe seizures, Unexplained, Vinson loss, Vomiting.

**Daily Life: ** <span style="color: black; font-family: 'Times New Roman',serif; font-size: 12pt; line-height: 14.25pt; margin-bottom: 0in;"> They last about 2 years. They have to be in a wheel chair. There life stinks they can’t do any thing. They also lose every thing hearing vision and more.

**<span style="color: black; font-family: Times,serif; font-size: 12pt;">Diagnosis: ** <span style="color: black; font-family: Times,serif; font-size: 12pt; line-height: 14.25pt; margin-bottom: 0in;"> The doctor will conduct a physical exam of your child. <span style="color: black; font-family: Times,serif; font-size: 12pt; line-height: 14.25pt; margin-bottom: 0in;">Blood test, <span style="color: black; font-family: Times,serif; font-size: 12pt; line-height: 14.25pt; margin-bottom: 0in;">Obtain skin sample, <span style="color: black; font-family: Times,serif; font-size: 12pt; line-height: 14.25pt; margin-bottom: 0in;">Measure activity of the galc enzyme.

**<span style="color: black; font-family: Times,serif; font-size: 12pt;">Treatment: ** <span style="color: black; font-family: Times,serif; font-size: 12pt; line-height: normal; margin-bottom: 0in;">There is no cure but if you keep your baby’s umbilical cord you could help the baby by using that. Also they use other people bone marrow and they replace it with the infected one. Also therapy likes talks about life and they play with toys and make them happy.

**<span style="color: black; font-family: Times,serif; font-size: 12pt;">Research: ** <span style="color: black; font-family: Times,serif; font-size: 12pt; line-height: normal; margin-bottom: 0in;">Treatments are bone marrow transplants replace a child bon marrow in Krabbes Disease.

<span style="color: black; font-family: Times,serif; font-size: 12pt; line-height: normal; margin-bottom: 0in;">Umbilici cord transfusion of blood stem cells obtained from the umbilical cord of the unrelated donors. <span style="color: black; font-family: Times,serif; font-size: 12pt; line-height: normal; margin-bottom: 0in;">Preventions-- you could do pregnancy screening new born baby and new born screening.

**<span style="color: black; font-family: Times,serif; font-size: 12pt;">Additional Facts: ** <span style="color: black; font-family: Times,serif; font-size: 12pt; line-height: normal; margin-bottom: 0in;">1 out of 100,000 people get this disease. <span style="color: black; font-family: Times,serif; font-size: 12pt; line-height: normal; margin-bottom: 0in;">Krabbes Disease is also call leukodystrophy. <span style="color: black; font-family: Times,serif; font-size: 12pt; line-height: normal; margin-bottom: 0in;">This disease most often happens to infants.

**<span style="color: black; font-family: Times,serif; font-size: 12pt;">Punnett Square: ** <span style="color: black; font-family: Times,serif; font-size: 12pt;">

**<span style="color: black; font-family: Times,serif; font-size: 12pt;">Pedigree Chart: **

**<span style="color: black; font-family: 'Times New Roman',serif;">﻿ ****<span style="color: black; font-family: Times,serif; font-size: 12pt;">Resources: ** <span style="font-family: Arial,sans-serif; font-size: 10pt; line-height: 115%;">[|//www.mayoclinic.com/health/DiseasesIndex/DiseasesIndex] <span style="font-family: Arial,sans-serif; font-size: 10pt; line-height: 115%;">[] <span style="font-family: Arial,sans-serif; font-size: 10pt; line-height: 115%;">[]

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