AllTunes DJ Service » 2010

Alexis & Arthur’s Wedding @ Minter Gardens

September 27th, 2010 by Peter "All Requests" Graves

All the best from AllTunes.

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Save On Foods #992 Willoughby Christmas Party @ Langley Golf Center

September 16th, 2010 by Peter "All Requests" Graves

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Save on Foods #992 Willoughby Service Awards @ Northview Golf Course Surrey

September 16th, 2010 by Peter "All Requests" Graves

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Private 60th Birthday Party & Niemann-Pick Disease Fundraiser Chilliwack

September 16th, 2010 by Peter "All Requests" Graves

What is Niemann-Pick Disease?

Niemann-Pick disease (NP) refers to a group of inherited metabolic disorders known as the leukodystrophies or lipid storage diseases in which harmful quantities of a fatty substance (lipids) accumulate in the spleen, liver, lungs, bone marrow, and the brain. Symptoms may include lack of muscle coordination, brain degeneration, learning problems, loss of muscle tone, increased sensitivity to touch, spasticity, feeding and swallowing difficulties, slurred speech, and an enlarged liver and spleen. There may be clouding of the cornea and a characteristic cherry-red halo develops around the center of the retina. The disease has 4 related types. Type A, the most common type, occurs in infants. It is characterized by jaundice, an enlarged liver, and profound brain damage. Children with this type rarely live beyond 18 months. Type B involves an enlarged liver and spleen, which usually occurs in the pre-teen years. The brain is not affected. In types A and B, insufficient activity of an enzyme called sphingomyelinase causes the build up of toxic amounts of sphingomyelin, a fatty substance present in every cell of the body. Types C and D may appear early in life or develop in the teen or adult years. Affected individuals have only moderate enlargement of the spleen and liver, but brain damage may be extensive and cause an inability to look up and down, difficulty in walking and swallowing, and progressive loss of vision and hearing. Types C and D are characterized by a defect that disrupts the transport of cholesterol between brain cells. Type D usually occurs in people with an ancestral background in Nova Scotia.

Is there any treatment?

There is currently no effective treatment for persons with type A. Bone marrow transplantation has been attempted in a few patients with type B, and encouraging results have been reported. The development of enzyme replacement and gene therapies might also be helpful for those with type B. Individuals with types C and D are frequently placed on a low-cholesterol diet, but its clinical benefit is not convincing.

What is the prognosis?

Infants with type A die in infancy. Children with Type B may live a comparatively long time, but may require supplemental oxygen because of lung impairment. The life expectancy of persons with types C and D varies: Some individuals die in childhood while others, who appear to be less severely affected, live into adulthood.

What research is being done?

The National Institute of Neurological Disorders and Stroke (NINDS), a part of the National Institutes of Health (NIH), conducts research about Niemann-Pick disease in laboratories at the NIH and also supports additional research through grants to major medical institutions across the country. Investigators at the NINDS have identified two different genes that, when defective, contribute to Niemann-Pick disease types C and D.

Organizations

Ara Parseghian Medical Research Foundation [For Niemann-Pick Type C Disease] 3530 East Campo Abierto Suite 105 Tucson, AZ 85718-3327 victory@parseghian.org http://www.parseghian.org Tel: 520-577-5106 Fax: 520-577-5212	National Niemann-Pick Disease Foundation, Inc. P.O. Box 49 Ft. Atkinson, WI 53538 nnpdf@idcnet.com http://www.nnpdf.org Tel: 920-563-0930 877-CURE-NPC (287-3672) Fax: 920-563-0931
National Tay-Sachs and Allied Diseases Association 2001 Beacon Street Suite 204 Boston, MA 02135 info@ntsad.org http://www.ntsad.org Tel: 800-90-NTSAD (906-8723) Fax: 617-277-0134

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