Sounds like a heavy title huh? I’ve been playing with a thought that has been plaguing me for weeks after I read (and re-read and re-read) the following quote from smart guy and co-developer of the atom bomb, Richard Feynman:
“For a successful technology, reality must take precedence over public relations, for nature cannot be fooled.”
So.
Genetic medicine is a newer term for medical genetics and incorporates areas such as gene therapy, personalized medicine, and the rapidly emerging new medical specialty, predictive medicine.
Allow me to translate that for you: people living with a genetic disorder, such as Down syndrome, cystic fibrosis, hemophilia and muscular dystrophy all have a hope that genetic medicine may provide treatments that slow or stop the progression of our diseases. Maybe you have heard about CRISPR? Perhaps you have read something about gene splicing, or viruses, stripped of the part that make you sick, being replaced with corrected DNA codes to be sent into the body as riders on a surfboard that travel to the cells and patch up the broken DNA.
This stuff is not science fiction. It is happening, it is being researched, and companies here and abroad are developing “specialized medicine” for people like me who then are faced with a bunch of questions, such as: Is this safe? How do I know? Is this expensive? Is this type of medicine/treatment covered by insurance? Do I get one DNA fix for all of my muscles or do I need to do this over and over again? If this is a “new” thing, how can I possibly know what will happen to my body in 3 years? 5 years? Longer? If this is a special infusion made just for me, what happens if there are side effects? If something goes wrong and my DNA is not “repaired” would I end up weaker? Could I die? If my body has used miracles of nature to “adjust” how I live with damaged muscles for 40 years, will my immune system attack these “gene surfboard riders” and kill them? What does a treatment like this do to other parts of my body besides my muscles? What about my heart, lungs, and other systems?
I could go on, and, in conversations with bio-companies, developers, researchers and doctors…..I have gone on and on….and on.
At issue also is a fundamental understanding that the majority of genetic conditions are life-shortening. This then begs a conversation about risk. If there was a new cancer drug that was approved by the FDA, but not used widely on the population, that could buy you a few more years of life, would you take it? What would your quality of life look like? If your cancer was terminal, would that alter your idea of how much risk you would accept?
I have known a few people that were diagnosed with ALS. When speaking with them, all I needed to find the truth was reflected in their eyes: they knew that ALS means big trouble. If you live more than 3-4 years after diagnosis, you are beating the odds. One person told me that their focus was getting their affairs in order, one fought triumphantly but never resolved the anger and fury of something like this happening to them, and one cashed in all of her retirement and bought an $80,000 sports car while she could still drive. None of these people made a wrong choice. How the hell do you even cope with something like that kind of news?
In the past decade or so, genetic medicine has become a bigger and bigger field. I support and applaud all the work that these companies are doing and I have bright hopes for the future of the continuing progress. One big thing still gives me pause though. As humans, we must all understand that anything like genetic medicine can be like fooling nature. Time and history have shown us that this is a dangerous game.
I recently finished an excellent (and sad) book entitled “Challenger: A True Story of Heroism and Disaster on the Edge of Space.” Until 9/11, the explosion of the space shuttle Challenger in January of 1986 was my “JFK assassination” moment. I believe that it was my generation’s moment of pause in that something we began to view as routine and safe was anything but.
The book describes in great detail, the history of the decisions that were made to launch on that cold Florida morning. We learn about the parts of the shuttle, the companies and engineers that built them, and a bunch of inside people that told supervisors all the way up the chain that the shuttle was an accident waiting to happen.
To balance that scale, there were people convinced that space travel had become routine, and, if progress on exploring the heavens was to continue, public relations must be stellar and out front. To make sure this was the case, as most of us will remember, New Hampshire social studies teacher Christa McCauliffe was set to fly that day, and, a few days into the mission, teach lessons from space to her high school classes. Tragically, we all know what happened.
The American public knew (and knows) that space travel is not safe and routine. Yet here we are today hearing stories of billionaires that want to commercialize space travel, and have even gone up on rockets that they have built. From time to time, there are still “accidents” and “set backs” but we keep pushing forward.
I feel that genetic medicine is similar in this regard. I know first hand that companies take all kinds of steps to minimize risk to humans and that we know that these new treatments will also result in “set backs.” We weigh risk vs. reward and are left with very difficult decisions for family and loved ones. We have hope, but we step forward cautiously. Companies raise millions in venture capital, lives are at stake, public relations workers go about telling everyone that we are “go for flight.”
And so I come back to the quote that I started with:
“For a successful technology, reality must take precedence over public relations, for nature cannot be fooled.”
I, as a patient living with a rare disease, will always press for honesty over everything else. My life depends on it. I am excited to be living in a time where genetic medicine is possible. When I was diagnosed with muscular dystrophy in 1985, genetic modification of DNA was science fiction.
Roughly five years after I was diagnosed, steroid dosing of muscles with the aim of slowing muscle tissue loss began in different doses and types of muscular dystrophy in humans, after lab testing on mice showed that steroid dosing prolonged muscle function.
At a clinic visit, this information was shared by my care team and I, along with my family, listened intently. I quickly weighed some risks vs. benefits that I heard:
Risk: weight gain, swollen face, mood swings
Benefit: muscles will maintain strength, allowing me more energy, ability to walk faster, carry stuff and tackle stairs.
Risk: shrinking of my pee-pee, interruption of puberty, unknown longterm effects…
That last one got me. ‘UNKOWN LONGTERM EFFECTS.’
At the time, I could still walk, climb stairs and do most of the normal teenage things. I asked the doctor for his insight:
“Well, steroid dosing looks promising, but your generation will be the experiment. We won’t have enough human data for at least ten years to see what’s really happening. In your case, it might be better to take caution and wait. Perhaps let others take the covered wagon west, and wait until there is a road….”
I did. It was the right choice for me, based upon the facts that I had at the time.
Now we have 35 years of steroid dosing data AND it was thought that I had Becker MD and not Limb Girdle….which would have made a difference as well.
The data shows that steroid dosing does all sorts of good and bad things…many of which are still not fully understood. Some individuals living with MD choose to dose, while some do not. It is a choice of two difficult options.
I am not a scientist or a medical professional. I am not here to give medical advice. Steroids were one of the first attempts to alter the course of muscular dystrophy. Since that time, much progress has been made into how to alter all kinds of things that take place inside the body. All of this is through technology, but defining success is much more difficult.
Today, and tomorrow, the quote still holds:
For a successful technology, reality must take precedence over public relations, for nature cannot be fooled.”
Now, and forever, give me honesty first. I will then decide what is right for my body.
Stay safe, stay awesome, and stay tuned.
Moeschen! 