Years ago, I met a mom of a child with a rare disease who matter-of-factly shared her story, which included as many twists and close calls as any blockbuster summer movie. I marveled at her heroism and she said no, she rejects that description. “I’m not a hero,” she insisted. “I’m a typical mom. You would do the same thing for your child.” She’s right. I would certainly try. But would I be as successful as she was at navigating the health care maze and finding answers? I hope to never have to find out.
I thought about that mom recently while reading a preview copy of “Chasing My Cure: A Doctor’s Race to Turn Hope into Action,” by David Fajgenbaum (released today). It reads like a superhero origin story — a man so strong that his friends call him the Beast is cut down to size by a mysterious disease, only to battle back using his wits and grit. He completes medical school and goes straight into business school, in between stints in various intensive-care units, nearly dying multiple times from organ failure. Somehow he claws his way back to health and builds a career focused on curing diseases like his own.
Reading “Chasing My Cure,” I thought about other extraordinary people who have overcome obstacles. People like Abby Norman, author of the gripping “Ask Me About My Uterus: A Quest to Make Doctors Believe in Women’s Pain,” which reads like a murder-mystery being solved by the victim. Or Sharon Terry, a former chaplain and stay-at-home mom who founded the Genetic Alliance as she pursued answers about her children’s disease. Or Doug Lindsay, who invented a surgery and cured himself (yes, really.) Or Terry Jo Bichell, who went back to school to earn a PhD in order to pursue a cure for her son’s rare genetic disease. Or Dana Lewis, who built on the work of other diabetes data activists to create an open-source Artificial Pancreas System. These are people who “pursue hope like it’s an outlaw,” as Afternoon Napper once said about her fellow rare-disease advocates. They refused to give up and instead went to school on their conditions, sometimes literally.
Stories like these help the rest of us recognize, maybe a little earlier than we otherwise would, the patterns that are common to so many health care stories. The moment when yet another doctor doesn’t believe your symptoms are real. The discovery that a clinical trial or even a treatment does exist for your disease but your clinical team is not up to date. The realization that if you don’t do something, nobody will.
Here’s how David describes his realization that there were no drugs in the research pipeline to help him:
Like Santa and his elves working to grant wishes to every good boy and girl in the world, I imagined that for every problem in the world, a highly qualified team worked diligently, perhaps in a workshop, and it operated out of sight, out of mind, right up until the moment that it solved the problem. Right on schedule, deposited in your living room, and wrapped in a bow, the problem is solved, revealing the magic of the workshop’s efforts…
The frequent news about medical breakthroughs feeds this optimistic illusion: you assume that someone, somewhere has already figured out the answer to every medical question you could ever pose or, if not, that a team is hard at work solving your particular medical need as quickly as possible. A cure is near; discoveries will happen whether or not you contribute time, talent, or dollars toward them. So, I had waited on the sidelines because I believed others to be on the case. But now that illusion was no longer possible to sustain. Not when Santa Claus himself was looking me in the eyes and telling me nothing would materialize, gift-wrapped, to cure me.
Like the rare-disease mom I met, David also rejects superhero status. He writes that having a rare disease pushed him “off the beaten path — and right into a ditch. From there, things looked a little different.” As a physician-scientist-businessman-patient hybrid, David is a unique “insider-outsider” who can review the medical literature, gather an international team of researchers, raise money, AND convince fellow patients to donate blood samples.
Since my antennae are always tuned for peer-to-peer health care signals, I honed in on the passages where David describes connecting with fellow patients, such as:
Maybe not too surprisingly, questions important to patients weren’t always the same as those for physicians and researchers…So we integrated suggestions from both groups on the [Castleman Disease Collaborative Network] international research agenda. We also connected patients with one another through social media, online discussion boards, and periodic in-person gatherings. I didn’t discount for a minute the power of this kind of connection. Meeting another patient in Dr. van Rhee’s waiting room years before had given me the boost of confidence and support I needed to keep fighting.
David is the galvanizing force that has finally drawn this disease community together. Even as we celebrate his achievements, though, I find myself asking: How many other communities are languishing? What platforms and tools need to be built to give everyone, not just the Davids (and Sharons and Dougs and Danas) of the world, a chance to contribute to solutions? What policies need to be crafted to break down the silos holding back discovery?
Here’s another question I keep coming back to: What’s better? Knowing the truth that there is no Santa Claus for most diseases? Or is it better to keep skating over thin ice, hoping you don’t ever fall in and need to test your superhero mettle?
Whether you read it as a citizen-scientist guide or an armchair-tourist tale, I highly recommend “Chasing My Cure.” Check out the book’s website, including a quiz to find out your Hope Score.
P.S. I would be remiss in writing a post with this title if I did not mention Ann Curry’s new show, Chasing the Cure, which features my friend and community colleague Bon Ku, MD, as one of the experts. It’s a fascinating mainstreaming of the peer to peer health conversation. Looking forward to seeing where the path leads!
A who’s who of medical heroes there Susannah. That point on connection is key – perhaps all the big disease non-profits and professional bodies that “look after” various diseases need a new key performance metric “What percentage of people with [X] feel that they know someone else with lived experienced of their condition that they can turn to for advice or support?”
Thanks, Paul, I love that question. Let’s work on amplifying it.
Great post Susannah – Reading it brought to mind other remarkable patients and families of patients who have battled hard to be heard, believed and to have their concerns taken seriously … its particularly the case in the area of rare diseases. I am thinking particularly of Lesley Greene, a mom to Jennifer Rachel Greene. When Jennifer was born she struggled to feed. Her mom (a first time mom) was greatly concerned but doctors brushed these worries away – telling her that she was hurrying her infant and that things would settle – she just needed to worry less and just take her time – first time mom’s are always worried!. This was the start of a very long and difficult journey for baby Jennifer. She was eventually diagnosed with Cystinosis; a rare Inherited Metabolic Disorder and throughout her life (she died aged 28 in 2007) she developed cancer twice, had a kidney transplant but despite all this – she attended university, gained her degree and began teacher training. To hear Leslie speak about her daughter Jennifer is both inspiring and heart wrenching in equal measure. When Leslie and her husband Peter were told that Jennifer had Cystinosis they found that there was very little support and information available and so with the help of family and friends and the medical profession they set up a charity initially called Research Trust for Metabolic Diseases in Children (RTMDC) encompassing all Inherited Metabolic Disorders, in November 1981. It gradually became an international collaborative network – it paved the way and opened discussions to encourage research and development of Orphan Drugs (ie medicines for rare diseases). Peter was awarded an OBE, and in 1997 the charity joined forces with other patient groups across Europe to form EURORDIS to advocate for the establishment of the Orphan Drug Regulation, which finally passed into European Law in 1999.
Lesley was elected EURORDIS Founding Director and acted as its President from 2001-2003. She also joined the Committee for Orphan Medicinal Products (COMP) at the European Medicines Agency (EMA) to continue advocating for the promotion of safe and effective drugs for patients with rare and metabolic diseases (she retired in 2018).
The Hempel family (Hugh & Chris) are another inspiring family who worked tirelessly to try and find a cure for their twin daughters (Addi and Cassi) who were diagnosed with Newmann Pick type C (a rare and fatal genetic disease). Their heartbreaking story was covered by Amy Dockser Marcus (Wall Street Journal) who followed the family’s journey with medical professionals for six years as the parents tried to find a cure or treatment for their beautiful girls. See http://projects.wsj.com/trials/?mg=inert-wsj#chapter=1&media=155 The family’s story is also told in the documentary “Here, Us, Now” https://www.youtube.com/watch?v=LPK6pGFHAa0 – Sadly both girls died in July of this year.
Let’s keep adding names to this list of superheroes among us. Thanks so much for the comment, Elaine!
“.. Like Santa and his elves working to grant wishes to every good boy and girl in the world, I imagined that for every problem in the world, a highly qualified team worked diligently, perhaps in a workshop, and it operated out of sight, out of mind, right up until the moment that it solved the problem.”
Wow, what a rush of memory in that perfect pitch of a paragraph. That’s exactly how I saw things too, as a child of the 50s coming of age in the 70s. Going to the moon might have left us that sense that everything had an answer if you looked hard enough. Those were the days when we also believed the best answer usually won.
That same outsized sense of “can do” infected much of health and medicine, such that here in the 21st century protecting ourselves from poor science, overtreatment and medical mistake has become as big a public health impediment as the lack of progress on much-needed cures. All of these trends leave patients to fend for themselves and depend on each other far more than ever before.
Carla, you will love this book. David found a way to capture his experience AND the science he’s pursuing in a can’t-put-it-down style.
2 additional MUST ADDs to the list of inspirational patients who deserve to be known (and recognised) for the innovation they have developed arising out of their own journey through illness.
First up is Michael Seres, a Crohn’s disease and Cancer patient who is also a bowel transplant recipient. He is also the Founder and CEO of the connected medical smart care company 11Health. Spending 7 months in hospital recovering from his transplant surgery Michael was getting increasingly frustrated with the colostomy bag that was now part of his daily life; he quickly realised that (a) the patient had very little control and that the bag could overflow/leak and that (b) measuring output was an antiquated process involving emptying the contents of the bag into a jug to measure (as the physicians needed to know volume, quantities, frequencies etc). Michael was sure a better solution existed but on searching the internet found to his surprise that there wasn’t and so he set about (from his hospital bed) trying to develop something that would work. He can tell his story far better than I can – so take a look as Michael talks about his journey from patient to innovator https://www.youtube.com/watch?v=qRJHBL8GWWE and here Michael explains how his company 11 Health and their product can help patients like him https://www.youtube.com/watch?v=xz5PRDjzNI8. Michael is an avid twitter user and can be found at @mjseres
Secondly Patient Innovator of note is Tal Golesworthy – Tal has Marfan syndrome (a rare genetic disorder that affects connective tissue). Tal is an Engineer by profession working in research and development of combustion and air pollution control. Tal’s invention was born out of his personal need for the device to support his aorta that was expanding dangerously due to Marfan syndrome. In his TED talk and in a Channel 4 documentary Tal explains how he chose not to have the conventional treatment for his condition and instead developed his own solution which he then convinced surgeons and physicians to trial with him as the first patient – he takes up his story on the TED stage https://www.ted.com/talks/tal_golesworthy_how_i_repaired_my_own_heart#t-64087