The Relentless Pursuit of Answers: Our Family’s Rare Disease Journey
Jeff Hoffman, the Chief Development Officer/Partner of Havas Health and founder of HVH Precision Analytics, shares his personal experience as the parent of a child with a rare disease.
At HVH Precision Analytics, we help to shorten the patient journey and end the cycle of suffering. As soon as a rare disease impacts a child, the whole family is part of that journey. Parents learn to navigate from one specialist to another, desperately seeking an answer.
I know this journey all too well. On January 19, 1999 my son, Sam, was diagnosed with Fanconi Anemia, a rare disease that has no cure. There are only 1,500 cases worldwide. But Sam’s journey—and ours—actually began earlier, in utero, when we learned that he had 1 kidney. He was then born with 11 fingers. Over the coming months, a variety of other health problems arose, including difficulty nursing, failure to thrive, and low platelet count.
Throughout this time, the pediatric health team was telling us not to worry. But then again, they’d never seen a child with Fanconi Anemia. Even the highly specialized surgeon who removed the extra finger didn’t put Sam’s symptoms together with his condition.
As the months went by, we knew something more was going on with our son, and we insisted on getting a genetic evaluation. That’s what finally led to Sam’s diagnosis. At the time, very little was known about Fanconi Anemia. The healthcare team didn’t expect him to live past age 5.
At that moment, I decided we would never define success by if he “lived or died.” We would determine success by how we “fought the fight.” It was the only way I could look at myself in the mirror and be certain that we would have no regrets in the future.
“… [I]f we can help patients get diagnosed earlier, we can connect them to treatments.”
Sam’s journey, of course, doesn’t end there, and we had to keep pushing to learn more— sometimes more than the doctors who were caring for him. We looked at each and every study and embraced all the medical knowledge we could get our hands on. People with this particular condition may have bone marrow failure, physical abnormalities, organ defects, and an increased risk of certain cancers. Sam had the 3 highest predictors of the disease by the time he was 1 year old. If one doctor had been able to see the pattern, my son would have been diagnosed sooner.
By embarking on this long journey with my son, I learned that patients—especially those with rare disease—often wait too long to get diagnosed. If we can help patients get diagnosed earlier, we can connect them to treatments. And, if there aren’t treatments yet, we can give people the ability to manage time and get the answers they need until there is a treatment.
“… [I]f there aren’t treatments yet, we can give people the ability to manage time and get the answers they need until there is a treatment.”
Our journey with Sam, and my 30 years of professional experience working in both biopharma and pharmaceutical advertising/marketing, ultimately led me to connect with Vencore and we formed HVH Precision Analytics. I had become convinced that our family journey, while unique to us, was not unusual for patients with rare diseases. I saw an opportunity to couple the unrivaled analytics of Vencore with the integrated marketing communications expertise of Havas Health to help other families get the answers they need more quickly.
So, if we can look at the symptoms and apply predictive analytics, we can change the patient’s journey, accelerate the time to diagnosis, and help families get the answers they need. The journey is a lot easier if you have knowledge.
“… [W]e can help families get the answers they need. The journey is a lot easier if you have knowledge.”
Today, Sam is 18 and a freshman in college. He is cared for by 35 physicians in every specialty you can imagine. His journey is now one of constant watchful waiting. In fact, every 3 months some type of monitoring has to be done. But, it’s making a difference. As someone who is on this journey with his son, I offer this advice: Never give up hope! As Winston Churchill said “Success is not final, failure is not fatal: It is the courage to continue that counts.” And so we continue…
HVH Precision Analytics is proud to be a friend of Rare Disease Day.
We look forward to joining in the effort to raise awareness about the impact of these disorders and the need for greater support of research efforts to find medications that can help.
Learn more at www.rarediseaseday.org.