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).
