One year ago today our phone rang, it was Dr. Smith asking us to come into her office at Children’s Mercy Hospital in down town Kansas City, MO. The odd part about the situation was we were a few weeks over due for a DNA test looking to find out what type of lysosomal storage disease Brisan may have because of the foamy macrophages they found on his tonsil’s and adenoids in May 2008.
Voicemail Brisan left me when he got home from surgery on May 27, 2008.
Chromosome 18, what is going on our friend? You and I along with everyone you ever met is affected! We couldn’t live without it. So your telling me that a little tweak, something minor could change the outcome in how our lives our affected by disease? Yes sirree. We both have a defective model of one gene on Chromo18.
Chromosome 18
Here is a excerpt from http://ghr.nlm.nih.gov/chromosome=18:
“Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 18, one copy inherited from each parent, form one of the pairs. Chromosome 18 spans about 76 million base pairs (the building blocks of DNA) and represents approximately 2.7 percent of the total DNA in cells.
Identifying genes on each chromosome is an active area of genetic research. Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. Chromosome 18 likely contains between 300 and 500 genes.
Genes on chromosome 18 are among the estimated 20,000 to 25,000 total genes in the human genome.”
Very interesting! What a complex model God produced.
Through today the past year has been filled with all kinds of things from fundraisers, trips out of state to see the leading people in the world about Niemann-Pick Type C (NPC), sickness, progression of the disease, surgeries, and watching them decline. It may be slow at times but we know it is a slow creeper then a racing monster the next. Do we have a lot to be thankful for? Yes we do. Right now there are many (well not really) that are more progressed with the disease and is tolling on their parents emotionally, physically, financially, and spiritually. We are very thankful for each and everyone that has helped in any manor. Your prayers, blessings, wishes, and good deeds have many merits. We have learned that accepting help is ok even if you don’t think so (still working on it). Can you imagine the possibilities of affecting thousands of people’s lives if they know what a monster this thing is? Can you envision a time where the medical community will take a greater interest? Can you see how many people will stop taking for granted their families? Could you imagine a break through that helped other disease? Lots of possibilities!
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