Rapamycin

 

The Chain of Rapamycin
The Chain of Rapamycin

Tuberous Sclerosis Complex is not very well known, but a common disease that causes tumors (non-deadly) in mostly the brain and on the skin. There is one person in my family with this disorder. It’s my sister, in  fact. Her name is Erika. She is 13 and she was diagnosed with Tuberous Sclerosis Complex when she was just about to turn two years old.  I have lived my life with a sibling with Tuberous Sclerosis Complex for a long time now, and I never really have known what this disease is or what it does, so I decided to research it. Tuberous Sclerosis Complex (TSC) can either be passed on genetically by a parent or it can be caused by a genetic mutation.  In my sister’s case, it was a genetic mutation.  TSC, most of the time, has serious affects. Some effects would be mental retardation, being developmentally slow, and autism.  All of which my sister has. Some people, though, get lucky and have no symptoms to the point where they live a successful life and it might even go undiagnosed.  TSC actually affects up to 40,000 people in the United States.  Even though this disease can go unnoticed by some, it still has effects on lots of people that are diagnosed with it and have symptoms. Since this disease is so “close-to-home” (both literally and metaphorically), and it affects TONS of people, I wanted to know if there was something out there that possibly could cure this disease.  Turns out, surprisingly, there might be! It is a drug that is taken orally, by pill, called Rapamycin.  Rapamycin is a fungus that was founded on Easter Island.  It is usually used for and anti-rejection drug during transplants, also, to reverse the symptoms of Alzheimer’s.  Now, scientists have found that Rapamycin not only does amazing miracles of those problems, but now they have found it can possibly REVERSE mental retardation, and get rid of the tumors caused by TSC. Amazing, right? My parents found this study for children with TSC and thought my sister would be a great candidate. The study took place in Cincinnati, Ohio, though. It was too far of a drive for us once a month. But they are studying the exact effects of this drug on TSC sufferers. They have discovered that if you take the drug for TSC, that if you stop the therapy, the tumors and problems will reappear. Although this is a great breakthrough, scientists still have a long way to go until it could be FDA approved for this certain treatment. FINGERS CROSSED!

 

Question:

Where are they now in the study?

What else have they found out during this study?

What are some other studies going on? (besides the one in Cincinati, Ohio)

 

2 thoughts on “Rapamycin

  1. This is very interesting because I have never heard of it like you said. I’m sorry that your sister has and I hope they find a way to fix it. Tuberous sclerosis complex forms in many different organs. It is mostly in the brain, eyes, heart, kidney, skin, and lungs. Some people get affected really badly and some others don’t at all. At least two children every day have this disease. It can be pasted on by parents. The tumors are not cancerous which a good thing is. Tumors in the eyes are not as common as they are in the.
    http://www.tsalliance.org/pages.aspx?content=2

  2. Tuberous sclerosis complex causes tumors mainly in the brain, heart, eyes, skin, kidney and lungs. Unfortunately if parents have TSC, there is a fifty percent chance their child will inherit it. Depending how you look at it, on the plus side people with TSC usually live a normal life span. There isn’t a cure yet, but in 2010, the FDA approved the first treatment for an indication of TSC. By what I’ve reasearched, there is no other cure(or “medicine treatment”) for TSC besides rapamycin. They are curently working with it and apparently in animals, it’s working. Hopefully they find a way to pass it so children and parents can have hope.

    http://www.tsalliance.org/pages.aspx?content=2

    http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2610234/

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