4. T
At six months old Faith was diagnosed with Niemann-Pick Type A (NPA) a
rare and fatal disease.
5. There is no cure for this disease and on February
12, 2007 Faith was forced to leave our side..
6. Faith passed only a few months before her brother Chris was born. Unlike his
sister he is only a carrier and can expect to live a healthy and full life.
7. However, his life wont be normal. Chris has a baby
brother, Riley who was born September 15, 2010 and
was diagnosed with the same disease that took his
sister.
8. NP is an inherited and fatal disorder. The symptoms usually
begin within the first few months of life.
9. NP occurs by mutations in a gene on chromosome 11.
Thus, for one to have this disease they would have
inherited two faulty genes (1 from each parent,).
10. The enzyme affected by the gene defects is called acid
sphingomyelinase (ASM) and its job is to break down a fatty
substance (lipid) called sphingomyelin (SM) which is found in every
cell of the body.
11. If ASM is missing or does not work properly,
sphingomyelin builds up inside cells. This leads to cell
death and makes it hard for organs to work properly.
12. Those with Niemann-Pick type A develop progressive failure to thrive,
liver dysfunction. It also causes mental disability, loss of motor
skills, and enlargement of the liver and spleen and becomes fatal in
most by 18 months to 3 years of age.
13. By the age of six months, infants
with the disease have difficulty
feeding, display an enlarged
abdomen, and will begin to lose
the motor skills they have
developed