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(Juvenile Onset) Sandhoff Disease is why. Read on to learn more.
Juvenile Sandhoff Disease
Sandhoff Disease is one of over 40 individually recognized “lysosomal storage disorders”. Lysosomal storage disorders are caused by the abnormal storage of waste products in the cells. As this waste builds up, cells become damaged and gradually lose their ability to function properly, causing disease symptoms.
Although individually, each lysosomal storage disorder is rare, as a group, they have an estimated frequency of about 1 in 5,000 births.
Sandhoff Disease specifically results in a progressive deterioration of the central nervous system. A deficiency of the enzyme hexosaminidase’ (or HexB) results in the build up of certain fats in the brain and other organs of the body.
Sandhoff Disease is clinically compared to Tay-Sachs Disease but is not limited to any particular ethnic group.
The incidence of infantile Sandhoff disease in North America is 1 in 309,000 births. These babies do not usually live past the age of three.
The version of the disease that Amanda has been afflicted with is referred to as Juvenile Onset-Sandhoff Disease. There have been only about 15 other reported cases in the world with this same version of the disease, therefore, the prognosis is uncertain, and there is no cure.
Sandhoff disease is inherited when both parents are carriers and each parent passes their non-working copy of the gene to the child. Every person has two copies of this gene in each cell of their body. A person will only be affected by Sandhoff disease if he or she has a mutation in both copies of the HexB gene.
To learn more about Juvenile Sandhoff Disease, Contact Kim at National Tay Sachs & Allied Disease Organization, or go to their website at www.ntsad.org
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