Silver Linings in Rare Disease

Luck is not the word you typically associate with a cancer diagnosis or even a heightened risk of cancer, but some people can see a silver lining even in the darkest storms.

Harvey Gould and John Lauerman certainly have.

“Some believe that blessings come out of serious adversity,” said Harvey, who was diagnosed with a rare blood cancer called primary myelofibrosis almost 12 years ago. “Count me as one of the believers.”

Lauerman, a reporter for Bloomberg News doesn’t have the disease, but he recently wrote about discovering in his own genetic sequence a variant — JAK2-V617F — that is associated with getting it.
In his detailed piece Lauerman talks openly of the anxiety he feels about what he learned but when someone says maybe he would’ve been better off never learning of the risk, he quickly sets them straight.
“I feel I learned something valuable about myself,” Lauerman told Ira Flatow recently on NPR’s Science Friday.
While he has some anxiety about the risk, he said in a video posted by Bloomberg it’s something he feels fortunate to have learned about.
“Overall, I feel lucky that I’m aware of this potential problem,” he said in the video, “and that as a result of having my genome sequenced. I might be able to get treatment early if there’s anything wrong.”

Beyond what we can learn from the resilience and grace both Harvey and John have displayed, their experience is telling for what it’s like for anyone with a rare disease or at risk of getting one.
Because these diseases are so seldom seen, once a diagnosis is made a patient begins a sometimes lonely scramble to get information about what they are facing. Like many people fighting against a rare disease, Harvey had never heard of primary myelofibrosis until his diagnosis. When he first got the news, Harvey recorded the conversation so he wouldn’t miss anything. He and his wife then spent hours scouring the Internet for anything they could find written about the disease. Lauerman writes about another patient he interviewed with the disease doing much the same thing.

Answers are often hard to come by and just as a person with one of these illnesses can feel isolated and alone, so too can the researchers searching for a cure feel orphaned. Often patients gathering together offer the best help by exchanging what they know about the latest treatments, reactions to medications, clinical trials and new research.

Although individually rare diseases are unusual, about 30 million Americans suffer from one of the roughly 6,800 rare diseases that have been identified. We know that most of these diseases — more than 80 percent of them — have a genetic component, but because they are rare and people with the conditions are not concentrated in one area, it has been difficult to bring them together for research and support.

But a lot has changed since Harvey got his diagnosis and told he might have three to five years to live. For one we now know of the JAK2 mutation’s association with the disease.

Studying rare disease is where 23andMe’s web-based research platform offers so much opportunity, by providing a simple and quick way to gather together a community of people into a web-based research platform to study the genetics behind these diseases. Last year we started our Myeloproliferative Neoplasms (MPN) Research Initiative. The intent is also to create momentum for research and learn more about the illness, its causes and possible treatments.

Harvey, a former trial lawyer who is the father of Ashley Gould, 23andMe’s vice president of corporate development and chief legal counsel, is also one of the first members of 23andMe’s MPN initiative. Last summer Ashley poignantly wrote about her father’s story to encourage participation in the initiative.
“While my father’s gift for humor has helped us all cope, we still have many unanswered questions stemming from his experience,” Ashley wrote. “If we knew more about the genetic components of the disease, would researchers be able to find causes and cures? Could doctors better anticipate the progression of the disease? Could doctors better tailor drugs to their patients? Responses to these questions remain unknown for many of the myeloproliferative neoplasms. It’s our search for answers that has lead to the formation of 23andMe’s MPN research initiative.”
Harvey recently wrote the book, “A Fierce Local” in which he touches on his illness woven into stories about his love of Ireland, horses and his Irish Catholic wife. His diagnosis clearly doesn’t define him, but it has clarified what is important.
“Life is a gift that up until my diagnosis I took for granted,” he said.

Please note: 23andMe filmed this video when we planned to launch a more narrowly focused Myelofibrosis Community. Based upon valuable input from our scientific advisory team, 23andMe has since decided to expand the scope of our community to include all myeloproliferative neoplasms, including myelofibrosis (primary, post-PV, and post-ET myelofibrosis), polycythemia vera (PV), essential thrombocythemia (ET), CML, mastocytosis, as well as hypereosinophilic syndrome (HES) and related eosinophil disorders.