Last night I attended a benefit for a local child suffering from San Filippo Syndrome, one of many diseases understood mechanistically by scientists, but for which there is currently no cure or treatment.
As I listened to the boy's older brother explain why this progressive genetic disease has made his brother so sick (and most likely unable to live past the age of 15 - he is currently 12) , I couldn't help thinking (perhaps naively): How could research have uncovered a mechanism, but there remains no cure?
San Filippo (also known as MPS) is a disease characterized by a deficiency (missing or defective) of one of four enzymes responsible for breaking down long sugar chains that are used to build connective tissues. Without these enzymes, the used sugars that are ready for disposal instead build up to toxic levels , and neurological problems develop and then worsen.
According to the MPS society's website (http://www.mpssociety.org/content/4039/MPS_III/ ) failed attempts at treatment have been made using enzyme replacement therapy (see below) and bone marrow transplants (also see below). Current research is aimed at potentially using gene therapy, chaperone therapy and intrathecal enzyme therapy (again, see below for descriptions).
As a scientist, I fully understand that creating succesful interventions, therapies, treatments, drugs or cures is a very difficult process. Side effects, safety, efficacy, and many other considerations must be made for options that may look promising at first. Some disease mechanisms are very difficult to target (take cancers, AIDS). And for many disease conditions, a mechanism is not even fully understood yet. So I really should not have been surprised to hear that this disease, affecting 1:70,000 births, has no cure.
But I was surprised. And saddened. And inspired that this boy's mother, who fully understands that even if a cure is found tomorrow her son will not survive, is still fighting to spread the word and raise research funds.
One glimmer of hope came only recently, when the NIH announced funding of the Rare Diseases Clinical Research Network - research support for 19 clinical areas (listed here in full: http://www.nih.gov/news/health/oct2009/od-05.htm), including MPS. Though I have no data to support this, I would assume that this landmark initiative was in no small part due to mothers and other people with a loved one suffering from a rare disease, who devote much time and energy to advocacy.
I hope to be able to update this post as new cures and treatments for rare diseases are developed due to scientific research.
Brief description of therapies mentioned above:
Enzyme Replacement Therapy: a lifelong therapy given i.v. to replace the missing or damaged enzyme
Bone Marrow Transplants: cells from the bone marrow, rich in stem cells, are transfused (read more at: http://www.nlm.nih.gov/medlineplus/ency/article/003009.htm)
Gene Therapy: therapeutically inserts a gene into the patient's cells,to replace a defective gene that may no longer successfully produce its given protein (read more at: http://ghr.nlm.nih.gov/handbook/therapy/genetherapy)
Chaperone Therapy: using chemical compounds to 'chaperone' substances in the body to their proper location (in the case of MPS, to the cell's lysosome)
Intrathecal Enzyme Therapy: similar to the enzyme replacement therapy mentioned above, but delivered via the spine
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Michael Steinberg
doctorwascher
Paul Hinrichs
Mary Elizabeth Williams
Cary Tennis
Dave Cullen
Salon.com
Comments
Drug companies spend billions of dollars to develop drugs to "control" less important things, like erectile dysfunction because they know that people will then buy these drugs regularly for the rest of their lives. And so they focus on things like high blood pressure, chronic pain, depression, adhd, etc. All worthy causes, mind you.
But unfortunately, there's not enough payback in curing less common diseases.
And those companies are in business to make money, so it's understandable. unfortunately, they fund much of the medical research that goes on at the university level, so that research also tends to focus on the same things.
Am so sorry to hear about your husband. Unfortunately, your story is quite common. You're certainly not alone in your frustration with doctors who are struggling in an environment where there is not enough knowledge about disease, and not enough effective treatments. From my perspective, things get better every day as more and more science is published and read by other scientists who take that new information and build on it. I hope we're able to read good news about research into your husband's conditions very soon.
"This person lacks an ezyme!"
"Well, give them some"
"But it isn't working"
"Crap, there must be some sort of absorbence/interaction/genetic mechanism missing when it's exogenous"
And there are so many of these diseases, and they each affect just a handful of people, it's so difficult to perform clinical studies to really understand a treatment. So frustrating for everyone.