To learn more about Niemann Pick Disease please visit The Niemann Pick Disease Foundation website @ www.nnpdf.org.
Cody and Kayla are starting a new chapter in their lives. They are going on a “road to a cure”.
Scott and I are so proud of Cody and Kayla!
Cody has said, “If this will help me, and other kids, I want to do it”.
I love how close our two children are with each other. They are not taking this “road” alone. Scott and I will be with them each step. Cody and Kayla have a large extended family on both the Ruthven side and the Kuciemba side. Every one of them loves and supports Cody and Kayla.
Our family is also blessed to have friends in our lives that give us love, support and prayers daily.
Here is Cody and Kayla’s Story:
Cody and Kayla were born with enlarged spleens. At the age of 3 Cody had a bone marrow biopsy which revealed he had some sort of genetic disease which was unidentifiable at the time. The doctors were not sure that he would ever have any physical manifestations of any genetic disease and for years he did not.
By the end of 2009 there were clear indications that his speech was slower and had become a bit slurred, he walked differently, his balance was off, he was experiencing hand tremors and he was having learning difficulties in school. We took him to several doctors and every test and scan he had came out normal. He was referred to a Pediatric Genetic Neurologist at Vanderbilt University Hospital in Nashville, TN for further testing. In December 2010, the Doctor performed a specific blood test on Cody and six weeks later, (January 28, 2011) we were informed that he has Neiman-Pick Type C.
Because Kayla had started to exhibit some of the same symptoms, she too was tested. Her test was positive as well. The prognosis is poor.
There is an off label drug that has been shown to slow down the progression in some patients but a cure has not been found.
NPC is an extremely rare neurodegenerative disease. Currently there are approximately 500 diagnosed cases worldwide. NPC has often been initially diagnosed as a learning disability, "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. Children with NPC lack, or have a deficient protein whose job is to process the cholesterol their cells make, like it should. This results in a buildup of cholesterol in their brain, liver & spleen. This build up in the brain essentially clogs the neuropath ways the brain uses to communicate with the body & over time actually kills some of the brain cells. Signals can't get where they need to go. Eventually over time, this communication breakdown leads to loss of memory, mobility, speech, the ability to swallow & eat without the aid of a feeding tube & ultimately the loss of life. NPC is an autosomal recessive disease, meaning for Cody and Kayla to have it, Scott and I both had to be unknowing carriers.
Cody and Kayla have been accepted to participate in the clinical trial for a study drug for NPC at The National Instituteof Health (NIH) in Bethesda, MD. We will be flown to the NIH in January 2014 and stay for 2 weeks. The drug will be given thru lumbar puncture (spinal tap). They will be sedated for this procedure. The following day, they will have blood drawn every hour for 8 hours. The kids will have to go back to the NIH every month for a week to get the drug administered, tests, and blood drawn.
Cody and Kayla are very friendly, personable, loving, and caring kids. They always look out for the “under dog”. They become friends with everyone and anyone they meet.
Scott and I thank God for giving us these two precious children. They have shown us how to hold our heads up and not give up just because there are some bumps in the road! Please keep our brave children in your prayers.
THEY WILL PERSEVERE!!!