Must See.
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27Aug
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27Aug
Today is Brisan’s 5th Birthday! Happy Birthday Brisan!!!!!!
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21AugBrisan, Jenn Stults, Michael Stults, Mike & Jennifer, Niemann-Pick Type C, Parker, Updates No Comments
Pre Duncan haircut and for the safety of all man kind before blast off.
I wonder which one actual ate their food? Umm I wonder...
Yeah one of them look like they are up to something?
I think they look happy????
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08AugBrisan, Jenn Stults, Michael Stults, News, Niemann-Pick Type C, Parker, Your help is needed No Comments
This story aired on Tuesday! I was out of town so I didn’t get to watch it. Hopefully you can see what these challenges lay ahead for Brisan and Parker. Please keep Jessica’s family and everyone affected by this disease in your prayers.
The story
Anthony and Lisa Leoni have little time to worry about whether California’s budget crisis will affect their daughter’s life-sustaining care.
A steady stream of nurses, caregivers and therapists visit 12-year-old Jessica at home around the clock. Jessica suffers from a rare and fatal disease called Niemann Pick Type C. A cholesterol imbalance destroys healthy cells in the liver, spleen and brain.
Although Jessica led a relatively normal life before the illness worsened, her mother always knew the disease would eventually take over. Read full article »
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08AugBrisan, Dad, Jenn Stults, Michael, Michael Stults, Mike & Jennifer, Mom, News, Niemann-Pick Type C, Parker No Comments
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.
The rest is history because on August 8, 2008 we received the answers no parents want and that Brisan was positive for Niemann-Pick Type C. What a day…the start of the Olympics, Michael Phelps leading to his record 8 Gold Nuggets. It had to be the most surreal situation possible. Could this be happening? Is the test wrong? What next? Can you help? Is there a cure? What do you mean he is going to not live a full life? All the things you can think of hits you. For Jennifer it was very real with the thought of it all. For me it wasn’t real at that moment. It had to sink in a bit. Of course I knew it was but I wasn’t ready to think about all the bad things yet. Parker followed in September with us confirming his test.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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