More about Niemann Pick...

Sources:

• http://www.niemannpick.org.uk/what_is_npd/background.html
• http://www.facebook.com/group.php?gid=29559569806&v=info
• http://emedicine.medscape.com/article/951564-overview

National Niemann Pick Disease Foundation

http://www.nnpdf.org/npdisease_02.html

Children Diagnosed with the Niemann Pick Disease

Type A

Type C

 Type A

Foundation:

• Niemann Pick is a rare disease. This disease results in a build up of toxic materials in the body's cells. Fatty Acids built up in the body's cells mostly in the liver, spleen, and brain. There are 3 types: Type A, Type B, and Type C.
• Type A builds up very quick and the children die around 3 years old.
• Type B doesn't affect the brain but the child develops slowly and can live up to adolescent or young adulthood.
• Type C is way worse. Speech is slurred, brain and organs are affected, and its hard to swallow.

 The History: The Name Niemann Pick comes from two German pediatricians: Dr.Albert Niemann, in 1914,  and Luddwick Pick. The disease was classified into three different types in 1958. The symptoms were described in the 20th century. Type A and B were classified in 1966. The causes for Type C were dicovered in 1997.


The symptoms of the disease are:

• Abdominal enlargement
• Enlarged spleen or liver
• Jaundice following birth
• Unusual shortness of breath; Repeated lung infections
• Cherry red spot inside the eye
• Vertical eye movement difficulties
• Progressive loss of early motor skills
• Feeding and swallowing difficulties
• Learning problems
• Sudden loss of muscle tone
• Slurred speech
• Seizures
• Hypersensitivity to touch.
• Type A & B:
• -feeding difficulties
• -abdominal distension
• -may present with jaundice in infancy and progressive liver failure
• -progressive loss of early motor skills
• -a ‘cherry red spot’ in the eye (visible only by special exam)
• -enlarged liver and/or spleen
• Type C:
• -jaundice at (or shortly after) birth an enlarged spleen and/or liver
• -difficulty with upward and downward eye movementsunsteadiness of gait, clumsiness, problems in walking
• -difficulty in posturing of limbs -slurred, irregular speech
• learning difficulties and progressive intellectual decline
• -sudden loss of muscle tone which may lead to falls
• -tremors accompanying movement and, in some cases, seizures 
• Cause: The disease is an inherited disease. It is inherited as autosomal recessive. That means both parents have to be carriers of it. Autosomes are non-sex related chromosomes that are hidden. 
• Diagonsis: This can be done by a simple blood test. Type C is tested by taking a piece of skin and seeing how able it is to transport and store cholestorol.
• Treatment and Cure: There is no cure or treatment.
• Preventable: There is no certain way to prevent it.
• Research:
• Mount Sinai School of Medicine is searching for a treatment of Type A and B.
• Health Canada is searching for a treatment of the Type C sypmtoms.
• Research on a treatment for Type C is also at Mayo Clinic.