I'm sharing this info because this family's story has really touched me. I don't know the McNeil family at all, but I heard about them through an acquaintance from church (through the wonders of Facebook of all places). You can read the family's blog for the whole story, but the short version is that both of this couple's children, Waverly & Oliver, have been diagnosed with MPS IIIA / Sanfilippo Sydrome (see below). Their story is incredibly heartwrenching.
The person I made the connection through is friends with the couple from college and along with a couple of other friends, they are working to raise money to help the McNeil family with the purchase of a house, necessary home modifications, and out-of-pocket medical expenses. They have named this cause A Hundred for a Home and they are trying to get 4,000 people to give $100 to meet their $100,000 goal (the family lives in an area where the cost of living is high).
I wanted to pass along the info in case you are touched and want to give and so that you can keep this family in your prayers.
Sanfilippo Syndrome is a recessive autosomal genetic disease. Children with Sanfilippo Syndrome are missing an essential enzyme needed to breakdown and dispose of long sugar chains in the body called mucopolysaccharides. also known as GAGs. Because these sugar chains cannot be broken down and disposed of they accumulate in the cells causing progressive damage. Babies and young children with Sanfilippo Syndrome appear normal, but symptoms begin to appear with age as more and GAGs build up in the cells of the body. There are 3 stages to the disease. Stage 1 the child begins to lag behind peers and begins to display difficult behaviors. Stage 2 the child losing his/her language, becomes hyperactive, chews on everything, and has sleeping difficulties. Stage 3 the child slows down, becomes dependant for all mobility and loses the ability to chew/swallow. There is no treatment or cure for Sanfilippo. Life expectancy varies.
No comments:
Post a Comment