Our little champion swimmer made a splash in the usual way, combining chromosomes and DNA and RNA and other little scientific-sounding bits to become our Chase. As the miracle of life began Chase inherited a mutated chromosome 18 pair, one damaged chromosome 18 came from each parent (you have a pair of each chromosome in your body.) This happened because Mom and Dad each have one mutated chromosome 18 and one normal chromosome 18. Neither of Chases's parents has NPC but each carry one defective gene. In each pregnancy where both parents carry the defective gene there is a 25% chance the resulting bundle of joy will have Niemann Pick C. Someone must receive both mutations to have Niemann Pick C. The child has a 50% chance of just getting one mutation and being a carrier and a 25% of not having either mutation at all. A decade ago there was no way to test inutero for the disease, it is now possible. When a specific mutation is known, as ours are, then it is possible for concerned family to be tested for the specific mutation. Genetic Testing is quite expensive and not all insurance carriers will cover preventative genetic testing (for lack of a better way to word it.)
Thus far approximately 20% of the gene has been mapped. There are 300 known NPC mutations since the disease was discovered. Because there are so many differnet mutations and so many still unknown it is very difficult to determine how fast the disease will progress. There is a mutation registry for Niemann Pick here (not all mutations are logged, ours are not inputed yet) :
Additionally this site catalogs samples and mutations as well: http://www.coriell.org/
Our adorable peanut was born on August 21st, 2009 at 10:36 pm. He weighed 5lbs 1 oz and was 18 inches long. Little Chase was born via C-section at 36 weeks. Fun Fact- we couldn't agree on a name for him until after hospital check out. The census lady at Memorial Hospital in Jax, FL was irritated with us. A name is a big deal! Dad wanted to name him Matthew Grant DiGiovanni. Three other Matts in the ward born the same day saved him from the initials MGD.
Click on the cute little baby Chase to learn more about his medical odessey.
-Awesome Onesie courtesy of God Father T. Winnegge