Be Aware !!! Gavin's Story

Q: What current research is being conducted regarding this disorder ??

A:

• RRD International Selected as Development Partner for NIH TRND ProgramFocus on NPC1

-This depatment is focusing on developing to rare drug diseases. It is supposed to be able to advance medical research for diseases that are rare and overlooked.

• New Test Promises to Find Fatal Diseases Before ConceptionTest Could Determine if Parents Are Carriers for Genetic Diseases

- This company is has came up with a new DNA test to be able to identify carriers of 580 of the owrst diseases in the world. It will start out as a blod test and then become a swabbing of the cheek thing.

• NIH Rare Diseases Clinical Research Network (RDCRN)

-This company will explore natural history, epidemiology, diagnosis, and treatment for rare diseases.

For more info ... http://www.nnpdf.org/npdisease_14.html

Q: Are there any possible preventions for this disease ??

A: The best way to try and prevent NPD would be to take a carrier's test . If both a the parents are carriers there are a 25% chance the child will have the disease , and a 50% chance they will be a carriers of the disease . It may only be possible to diagnose those that will carry the abnormal gene .

Q: Is there any way to treat or cure Neimann-Pick disease ??

A: There is no actual cure/treatment for Neimann-Pick at the moment . However, treatments that have been tried out have been a bone marrow transplant . Also , having a low cholesterol diet and medicine that may be able to control or sooth the symptoms .

http://health.nytimes.com/health/guides/disease/niemann-pick-disease/overview.html

Q: How is NPD diagnosed ??

A: Normally the disease can be diagnosed by testing of the blood and measuring ASM contained in the white blood cells.

http://www.highbeam.com/doc/1G2-345100305.html

Q: What are causes of this disease ??

A:
Type A && B
- these parts can occur when the body does not contain ASM, a certain acid whioch breaks down a substance known as sphingomyelin. Sphingomyelin is contains in every part of the body, so without ASM it is able to build up inside of the cells.

Type C
- this part can occur when the body is unable to breakdown cholesterol and other fats. This can cause excess cholesterol inside of the liver, spleen, and too much fat around the brain.

Type D
- this is caused when there is a problem with the body moving cholesterol between brain cells.

**This disease is mainly the cause pf an recessive trait, there is a 1 in for chance that the offspring will inherit this disease. So unless two parents contain this gene, the offspring will not get it.

http://judaism.about.com/od/health/p/niemanpick.htm

Q: What are some symptons of NPD??

A:

• enlarged liver or spine
• feeding problems
• blindness
• cherry red spot in the eye
• abdominal swelling
• difficulty in posturing of limbs
• trouble moving eyes
• loss of muscle tone
• seizures
• slurred irregular speech
• tremors
• clumsiness

Q: Where did this disease originate ?

A: Well, the first occurence of the Neimann-Pick disease was in 1914 by Albert Neimann . "... Neimann described a young child with an enlarged liver and spleen, enlarged lymph glands, swelling and darkening of the skin of the face. The child had brain and nervous system impairment and died before the age of two. Later, in the 1920's, Luddwick Pick studied tissues after death of such children and provided evidence of the new disorder. " This qoute simply states that after an encounter with one child that contained the disease, Albert Neimann went back with the help of another and studied the symptons and tissues of others who had died of a similar thing.

http://judaism.about.com/od/health/p/niemannpick.html

Q: What exactley is the Neimann-Pick disease (NPD)??

A: So far there are known to be six different types of this disease (A, B, C, D, E, and F). NPD is when the disorder of fat metabolism makes it so the eyes, skin, skeletal system, nervous system, lymphoid organs, and liver are irregular .
- each of the disease may involve different organs, contain different symptoms, and/or occur in different times of life.


http://health.nytimes.com/health/guides/disease/niemann-pick-disease/overview.html

.:Love For The Babies:.