Research that Benefits Children and Families—Uplifting Stories

I've never imagined being a parent that has a child that has a diagnosis and that there is not a treatment available.  Have you ever envisioned seeing your child slowly fade away and die?  It’s not a vision that any of us have for our children.  We all have wishes and dreams.  Milestones, birthdays, school dances and someday marriage is what we envision.  A healthy and happy life for our children is what we desire.  Unfortunately, there are many parents that have to face the reality of that their child is facing a life-threatening disease.  I have two friends that are currently experiencing this reality each day.   As parents we will do just about anything for our children to be happy regardless of the cost.

I read the article TRIALS: A Desperate Fight to Save Kids & Change Science written by Amy Marcus.  The Hempel’s twin daughters had been diagnosed with a rare diseased call Niemann-Pick Type C (NPC).  “It gradually steals mobility, speech, the ability to swallow” (Marcus, 2013).  Only the children’s symptoms at this time were able to be treated.  With no cure or medications to help slow down the progress of the disease Addi and Cassi’s parents turned to a group of citizen-scientist (Marcus, 2013).  This was a group of people that shared their experiences as well as research papers that wanted to be equal partners with researchers.   In the Hempel’s research they found information about an experimental drug that had not been tested to see if it was safe on children.  The researchers they knew under pressure helped families they knew.  Both the researchers and the families were confronted with possibilities and loss (Marcus, 2013).  Mrs. Hempel approached a doctor about an experimental drug the doctor pleaded with her to wait and she stated it could take 20 years and we don’t have that long.

Mrs. Hempel was able the purchased cyclodextrin from a company in Florida.  She took the sugary substance for 4 days to make sure she didn’t experience any side effects before giving it to her girls. She had a blog in which she posted that she would not hold any doctor, hospital, researcher or non-profit agency accountable if anything happened to her children as she embarked trying experimental treatments to save Addi and Cassi’s life from NPC (Marcus, 2013).   She would mix the compound and reward the girls before and after for taking it.  The Hempel’s then pushed the FDA to allow the girls to have girls receive infusions with cyclodextrin.  The results were subtle. 

Overall with the push of parent’s like the Hempel’s and other parents of children that hat NPC they were successful in getting researchers to do a trial with an experimental drug.  Most of the data that was collected before the research project was the benefits parents had seen in their children.  It had been stated that “it was hard to ignore “but was not science (Marcus, 2013).  Experiments with cyclodextrin have been since placed in different parts of the body.  Although it’s too late to be successful for Addi and Cassi their parent’s persistence has made a way for a possible treatment to help other children with NPC if given when they are younger.  Trial and error with research showed that cyclodextrin is more successful if given in the spinal cord because it allows more of the substance to reach the brain.  Early diagnosis of NPC would allow treatment to occur before any symptoms arose (Marcus, 2013).  "Neither parent nor scientist could have brought cyclodextrin drug trial alone.  The role of parents like the Hempels pushing and challenging the scientist to crawl out of out of their skin of safety" (Marcus, 2013). 

Marcus, A. (2013).  Trails: A Desperate gto Save Kids & Change Science.  Retrieved November 12, 2014, fromhttp://projects.wsj.com/trials/#chapter=1