Hello, Adversity Weekly Roundup #04 - Feb. 25, 2023
Hello, Adversity Weekly Roundup #04 - Feb. 25, 2023
Celebrating Rare Disease Day....three days early
Hi everyone!
Welcome to the fourth edition of the Hello, Adversity Weekly Roundup. I hope you all had a great week.
The theme of this week’s newsletter is Rare Disease Day, which takes place every year on the last day of February. (This is because February 29th is the “rarest” day of the year.)
I usually try to attend a Rare Disease Day ceremony or speak at an event, but this year I will be celebrating by having a medical procedure. Fun.
Nonetheless, it is one of my favorite days on the calendar, as it brings together patients and families from around the world to raise awareness for the thousands of known rare diseases. Very few of these diseases have treatments, unfortunately, which makes the need for advocacy and awareness all the more important.
One of the best ways to accomplish this is through storytelling, which also happens to be the topic of my upcoming newsletter. Storytelling is a powerful way to inform others about what it is like to live with a rare disease, and how it affects someone’s life both physically and emotionally.
When a patient is the one telling the story (or a parent, spouse or caregiver depending on the situation), they can put a face to the disease, own the narrative, and make a positive difference.
I have seen the effect these stories can have. They have changed the course of my life.
The goal today is to share a few rare disease stories that have made an impact on me over the years. It is impossible to fit them all into one newsletter!
If we are going to talk about rare disease stories that have changed me for the better, we must start with Sam Berns, a Massachusetts teen whose story I learned about on the local news several years ago. Sam lived with a condition called progeria, a disease that causes rapid aging.
Although he only lived to be 17, Sam left a lasting legacy, as portrayed in the 2013 HBO documentary, Life According to Sam. It is well worth your time, even though we know the ultimate outcome. (His passing is not covered in the film.)
Sam explicitly did not want to be seen as an inspiration, which is something I can appreciate. However, he did inspire me to act. After watching the documentary, I realized there were many goals I was not pursuing because of my disease, and I resolved shortly thereafter to make them happen. All of my business school and MDA friends are in my life because of this decision.
My friend Dr. Eric Wang penned a touching tribute to his dad, Reynold, who passed away in January after living for several decades with Myotonic Dystrophy.
Eric has dedicated his career to finding a treatment for Myotonic Dystrophy, and has been an instrumental part of my support system as I’ve come to terms with my own muscle disease. Including Eric, I have been lucky to know many researchers who have dedicated their careers to rare disease research because they are personally affected.
Keisha is a friend of mine who lives with limb-girdle muscular dystrophy (LGMD). She was diagnosed with the condition as an adult and has had to make several life adjustments as her disease progressed. Keisha loves fashion and has founded an online business, Girls Chronically Rock, inspired by her journey. I also have LGMD and can relate a lot to how she felt when she learned about her diagnosis.
Doug Lindsay’s story is remarkable. Lindsay lives with a disease, bilateral adrenal medullary hyperplasia, that runs in his family and from which his mother passed away in 2016.
Doctors at first weren’t sure what was wrong with him as the symptoms took hold. After poring through an old endocrinology textbook and reading countless papers and articles, all while bedridden, Lindsay was able to hypothesize what was ailing him. Several years later, he helped develop the surgery that ultimately saved his life.
Most rare diseases don’t have a treatment. Although not all are fatal, many are, and it is a race against time. Finding an effective treatment, especially for rare and neglected diseases, is a tough task due to the small number of identified patients. Rare disease families often have no choice but to become scientific and medical experts about their conditions.
Bonus: Books about rare disease
Here are a few rare disease books I have enjoyed over the years. Hopefully someday I will get my act together and write a book that I can add to this list! (Will I shamelessly promote it? Absolutely.)
Everest Strong, by Rob Besecker
Chasing my Cure, by Dr. David Fajgenbaum
Rare Like Us, by Taylor Kane
The Code Breaker, by Walter Isaacson (This one isn’t specifically about rare disease but touches on the subject in several chapters.)
If you have any feedback on today’s email or want to send me a story to include in the future, please email me at HelloAdversity@substack.com or drop a comment below.