From Isolation to Anticipation: How technology continues to improve the lives of rare disease families

 

By Laurie Bartolomeo, EVP, Creative Director, Dudnyk

 

Working in the rare disease space has never been more rewarding than it is today. Technology is turning what was once thought to be impossible into actual, tangible realities for physicians, patients, and families. There are many exciting advancements happening now – in real time – and even more on the horizon that demand our attention and advocacy to help bring them to light.

One of the most significant developments in rare disease over the past decade is the proliferation of expansive online social networks that connect patients and families around the world. Just imagine what it must have been like in the past when trying to navigate a rare disease and all of the challenges that come with it, before these networks existed. How bewildered, alone, and frightened rare disease patients and their families must have felt. And how cut-off they were from being able to learn about and understand their disease and advocate for treatment and services. Today, online support groups connect thousands of rare disease patients, all dealing with the same or similar issues, making what they are going through feel not so “rare” after all.

Another major advancement greatly affecting the rare disease community is our recent ability to identify previously difficult-to-diagnose genetic conditions through whole genome sequencing (WGS). Our ability to see a patient’s complete DNA sequence truly means that no symptom should go unchecked, and no genetic disorder should go undetected. We know that in many cases, when we identify rare diseases sooner, we have the potential to change the course of a disease, or at the very least provide answers that can impact a person’s life and the lives of his or her family and caregivers. Unfortunately, technology is often far ahead of policy, and the accessibility of WGS is not where it should be right now. However, the costs associated with the testing are coming down each year, and there is a great push among biotechs to offer free genetic testing for the diseases they treat, even if less than 5% of those tested end up with a positive diagnosis. As industry leaders, we can and should advocate to ensure that WGS is considered when the cause of symptoms cannot be identified, and when patients and families are in desperate need of answers.

My family experienced first-hand the benefits of WGS in the diagnosing of our son’s rare disease. When Sammy first started having seizures at 10 months of age, his neurologist was able to identify them as Infantile Spasms, a rare and catastrophic form of epilepsy. However, the reason for the seizures and his other symptoms were a mystery to his physician and to us. It was only when a colleague of mine learned about WGS and encouraged me to pursue it that we were able to complete the mystery leg of my son’s journey. Seven years after his initial diagnosis, we learned through WGS that Sammy has Angelman Syndrome, a rare genetic disorder caused by a mutation of the UBE3A gene on chromosome 15.

The very first thing our physician said to us after giving us the diagnosis, was that the results did not change anything we had been doing for Sam because there are no treatments for Angelman Syndrome. I understand why she felt compelled to tell me this. (If treatments were available, it would have meant that we’d missed diagnosing a treatable condition). I also know that in just a few years, she and physicians like her, may very well not be able to say this. With gene therapy trials underway for Angelman and other genetic diseases, a missed diagnosis could mean a missed opportunity to change the course of a disease and the trajectory of someone’s life. Which brings me to the last, and most important, area of advancement in rare disease—the actual treatments themselves.

Revolutionary treatment approaches for rare diseases are finding their way to clinical trials and, in some cases, to FDA approval. The first gene therapy was approved in 2017 for a rare form of hereditary blindness. This therapy, which involves the transfer of a healthy gene into the cells of the eye via a modified virus, is helping those who once were blind experience a level of functional vision they never thought was possible. In oncology, two chimeric antigen receptor (CAR) T-cell therapies have also been approved. With CAR T-cell therapy, a patient’s own immune cells are used to recognize and attack cancer cells when introduced into the body.

In 2018, the first RNA interference, or RNAi, therapeutic was approved by the FDA to treat hereditary amyloidosis, a progressive and debilitating rare disease. 2018 also saw the start of the first genome editing clinical trials. Like CAR-T cell therapy, CRISPR-Cas9 alters the immune cells of patients to enable them to recognize and destroy cancer cells.

With such rapid evolution taking place, I—for one—am incredibly excited to see what the near future holds for rare disease families like ours. Whether it is the immensely valuable ability to connect with so many others who are in the same situation, or the unbelievable power we now have to sequence the entire genome, or the amazing scientific discoveries that are actually transforming into real solutions for patients…the possibilities are truly endless. I am not only grateful for these advancements and what they can mean for my family, but also for the way in which they are infusing our industry with newfound promise and anticipation, and the chance to drastically improve the way rare diseases are considered, identified, and managed.