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One Reporter, Four Families, Six Scientists and A Hunt to Cure an Uncommon Disease

John Marin was 15years old, when his mother died from gallbladder cancer, just over five and a half years after his dad’s death. A 15-year-old orphan had to undergo the irreparable tragic loss alone. The loss was so intense and unbearable that this brave child decided to put in all his efforts to ensure that no one else’s mother dies with a disease with no cure!!

John grew up and became a health reporter with VICC news. Hetook leaveand got funding done from a Robert Wood Johnson Foundation for hoping to help the scientists trying to find the cure for uncommon diseases.

He found out that people suffering from the disorders of Niemann-Pick Type C (NPC) are unable to metabolize cholesterol and other lipids within their own cellsappropriately. Consequently, excessive amounts of cholesterol accumulate within the liver and spleen and excessive amounts of other lipids accumulate in the brain causing Vertical gaze palsy, the inability to move the eyes up and down, enlarged liver, enlarged spleen, jaundice and neurological symptoms. In fact, enlarged liver can lead to the cancer of gall bladder.

Gallbladder cancer is a rare disease that affects about 7,000 people a year in the U.S., and John wanted to find out the challenges of developing drugs for the rare diseases. In fact, after being aware of NPC not letting a person live for more than 40 years, he worked with a group of families and scientists trying to accelerate the development of a drug to treat Niemann-Pick Type C disease, an uncommon and deadly cholesterol metabolism disorder affecting mostly children.

One reporter, four families and six scientists started working together to find the cure for deadly Niemann-Pick Type C. But day after day the circle increased. Bing the reporter, he visited people at home, and spent time with family members. There used to be lengthy discussions and the topics varied from science to the drugs used to test on mice. They also talked about their sick children and the stress of living with an illness that is cureless. It wasn’t clear whether their efforts would yield anything or not but they were determined to attain their goal. One day some of the parents started talking about trying one of the drugs on their children. This became the topic of huge discussionand was hotly debated. Views of people collided with each other.

Parents moving ahead without concerning scientists triggered the difficult debates. There were numerous questions rising at that time that became very difficult to answer. Some of the questions were: How quickly can science move? How soon can experimental drugs that seem to work for the animals be tested on children? Can novice and professionals together work to overcome this disease?

John says that the advantage of working on a story for six years is seeing people change over time. Even when parents and scientists disagreed on the plan, the group continued seeking a way to find the cure, holding onto the belief that their collaboration offered the fastest route to finding a successful treatment.

Finally, At the National Institutes of Health, a turning point came during a 2009 meeting where scientists forrare and neglected Diseases decided to test multiple doses of Cyclodextrin in nine patients. The scientists ended up sitting together and parents sat at the outer edges of the room. The day is not far when the scientists will find the cure of the diseases caused by deadly disorder of NPC!!

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