All part of my job...

Last night when I was at work I decided to check up on a beautiful little girl that I had the opportunity to take care of sometime back at the beginning of the year in like March or so. It was the saddest case, her and her twin sister had what is known as Niemann Pick Type C syndrome. I found out that both of the girls have passed on, one in May and the Other in July. They would have been 2 this month on the 7th. All my patients have an effect on me in some way or another, some more than others. This is a patient that really found a special place in my heart in a hurry.
"Niemann-Pick Type C (NPC) is very different than Type A or B. Niemann Pick Type C patients are not able to metabolize cholesterol and other lipids properly within the cell. Niemann-Pick Type C disease is very rare and there are about 500 cases diagnosed worldwide. It is believed, however, that the number of people affected by NPC could be higher, but diagnostic difficulties do not allow an accurate assessment of the occurrence rate. NPC has been initially diagnosed as a learning disability, mild retardation, "clumsiness," and delayed development of fine motor skills. It is not uncommon for a family to spend several years seeking a diagnosis before NPC is identified. NPC is always fatal. The vast majority of children die before age 20 (and many die before the age of 10). Late onset of symptoms can lead to longer life spans but it is extremely rare for any person with Niemann Pick Type C to reach age 40."
It was the saddest thing to see this most adorable little girl who was 18 months old and only the size of maybe an 8 month old. I never got to meet her twin sister but she has the most amazing parents who really had a good handle on the fact that they were care takers for these two little girls who didn't have a long life ahead of them. I was so impressed with how well they were dealing with this for such a short time and how this surprised pregnancy had turned out to be way more than they had bargained for. On their website there was a blurb that their mom had written about how she was able to deal with this: " A lot of people ask me how I keep going – how I’m not totally falling apart. I feel like God is giving me the strength to do this – he chose me and my husband to be the girls’ parents because he knew we would take the best care of them no matter what. So that’s what we do, and we take it one day at a time. I am so thankful for my children, and I wouldn’t trade them for anything. I just wish there were more I could do for them – but that’s why we will keep fighting for a cure, and we won’t stop until we find one. "

www.angeltwins.org

"Some people come into our lives and quickly go. Some stay for awhile and leave footprints on our hearts. And we are never, ever the same"