Diagnosement day is different for everyone, but regardless of how one’s prognosis is delivered, once you know you have a rare disease, your entire world is upended.
On Feb. 25, The Boston Globe hosted a Rare Disease Summit designed to tie these key concepts together in a way that educated attendees about the nature of these diseases and how through communication and connections, everyone has the power to promote change.
Rare diseases can be a remote topic until, in just one moment, it becomes one’s entire life. It’s easy to perceive rare diseases as disorders that don’t impact many people, relative to other illnesses, but the shockwaves of a rare disease diagnosis bring a variety of specialized communities together, broadening its impact to a significant degree. The course of treatment and breakthroughs is dependent on these connections, emphasizing the important roles awareness and community play when facing down the gravity of a diagnosis.
The conference was sponsored by Alexion and featured a variety of researchers and rare disease based organizations, as well as other individuals connected to rare disease communities. The event took place at Big Night Live in Boston, and ran from 10 a.m. to 3 p.m., including a complimentary lunch and a networking hour.
There were six panels, each featuring a unique blend of researchers, rare disease specialists and individuals living with rare diseases.
The CEO of the National Organization for Rare Disorders (NORD), Pamela Gavin, opened the conference with a fireside chat about the nature of rare diseases and what challenges and goals NORD has for the future of treatment endeavors and research.
Following Gavin, Boston-based doctors studying rare cancers hosted a panel, which which was followed by another panel about the rare disease diagnosis process and genetic advancements. The subsequent panels featured members of the rare disease community, including parents and physicians of children with rare diseases.
Most panels opened with a summary of the research and treatment development occurring in their field. In the last couple years, there have been numerous strides and breakthroughs in different rare disease fields, which not only directly help patients, but also provide a backbone for new research endeavors. The significance of these developments can be seen across an assortment of statistics, one of the most notable being the changes in diagnosis mechanisms.
“When I started my training in genetics in 1983, we didn’t have a lot of sophisticated testing and we were able to identify about 3-5% of the kids we saw,” Associate Chief of the Division of Genetics and Genomics at Boston Children’s Hospital Mira Bjelotomich Irons said. “Over the last five to ten years, we’ve finally developed a test [genome analysis] that will identify an underlying effect in about 40 to 50%.”
On top of work like this, there is also valuable work being done in the mechanisms used to spot diseases. Biomarkers are molecules found in bodily fluids that indicate the presence of a chemical process, whether it be expected or unexpected. When diagnosing rare diseases, they can be a crucial warning sign that something is abnormal, making them an important area of study.
Head of Clinical Bio Analytics & Translational Sciences at Beam Therapeutics Priya. S. Chockalingam works with the rare disease Alpha-1 antitrypsin deficiency, which causes damage in the liver and lungs. This disease is caused by a lack of the ATD protein, which causes toxin protein accumulation that can be visible through sample examination.
“This [use of biomarkers] is very important because it allows us the opportunity to treat and intervene very early,” Chockalingam said.
Biotechnology allows scientists to develop technologies to produce vaccines and cures for diseases. Boston is a prominent center for this research, so our community has access to treatment and information that can easily be taken for granted.
“Massachusetts is unique in that we have a very strong life sciences industry and a very strong academic medicine in Boston,” Associate Medical Director at the Bureau of Infectious Disease and Laboratory Sciences and Chair of the Massachusetts Rare Disease Advisory Council at Massachusetts Department of Public Health, Dylan Tierney, M.D., said.
Access to high tech research and an abundance of qualified specialists and researchers makes Massachusetts ranked number one in the country for healthcare performance, according to a study from the Commonwealth Fund.
The collaboration of these individuals with a nationally acclaimed hospital system creates an intricate web of connections which increases Massachusetts residents’ chance at receiving excellent care compared to other parts of the country.
“Boston is a superpower in medicine,” President and CEO of Parent Project Muscular Dystrophy, Pat Furlong said. “You are lucky [to be] here.”
Doctors like Furlong are working with specialists in Boston to create systems that connect people across the globe with doctors and primary care advisors that have the capacities needed to work through their diseases. While we in Wayland are fortunate to live in proximity to such a medical powerhouse, lasting change and research is not achievable without the distribution of these resources.
“In rural areas, there is not as much access to a strong life sciences industry,” Tierney said. “I would be interested in finding ways for people who are living outside of Metro Boston to be able to access the resources that we have here.”
Rare diseases know no borders, with diagnoses across the globe, which is exceedingly difficult when specialists can be as rare as the conditions themselves. This means that not all doctors are equipped with the knowledge needed to efficiently treat affected patients. Creating systems that connect patients to the highest quality care is crucial in treatment advancements, making Boston a key component in the distribution of care.
“I would really love models where there would be a group of physicians in Mississippi or Alabama or some of those states [who] could reach into a group of clinical geneticists and present the patient and at least have a direction to go in,” Teirney said.
One way this connection can be achieved is through programs like TeleHealth, which is a global health platform that connects patients to primary health providers across state and country lines. The ease and versatility of this resource has made it a promising tool when directing rare disease patients with the right specialists.
“I think that [TeleHealth] would be a relatively easy way to allow primary care doctors in rural settings or in under-resourced settings to have access to academic centers in Boston,” Tierney said.
Another potential connection method is the integration of multidisciplinary health clinics, which are healthcare centers operated by a variety of doctors with different areas of expertise. These are especially beneficial to rare disease patients because they increase the chance of interactions with knowledgeable individuals, while forcing the collaboration of multiple medical backgrounds.
With over 7,000 rare diseases it is unrealistic for doctors to have all of them and their symptoms memorized, which is why this global communication is key to doctor’s performances.
The importance of collaboration like this is not isolated to a singular endeavor. Whether it be through researchers sharing information with each other, patients forming advocacy groups or teams working with organizations for funding, communication and community are the backbone of medical breakthroughs.
“Genetic medicines like these aren’t discovered, they are engineered,” Executive Medical Director of Sarepta Therapeutics Stefanie Mason, M.D., said. “It’s about building on prior science and collaborating with each other.”
The collaboration with researchers and health care providers provides a strong foundation for advancement, which cannot be done without an evolved series of connections that bring resources, funding and patient input together.
“When you can get industry and the hospitals working together, that’s where really big advancements are made,” Boston Globe Account Director Steven Schmitt said.
These efforts are all at stake though, due to a potential loss of funding from the National Institution of Health (NIH).
On Jan. 23, the Department of Health and Human Services (DHHS) issued a directive followed quickly by an Office of Management and Budget memo that froze communications for DHHS employees. Without this communication, the NIH was banned from meetings with the DHHS, which meant they could not approve any new grants. A series of lawsuits against those actions over the next couple days allowed funding to resume, but these events sent shockwaves through the scientific community, with labs unsure of the future of their research.
“No one knows how this is going to play out,” Chief of the Section of Hematology and Medical Oncology at Boston Medical Center and Co-Director of the Boston University Cancer Center, Matthew H. Kulke, M.D., said.
While not all rare disease research is funded through the government, loss of this research in any capacity negatively affects all medical investigations, as well as patients and families across the rare disease community. The uncertainty labs and researchers are facing right now emphasizes the importance of maintaining patient connections as the medical community stumbles blindly into the future.
Patients are at the center of the web of rare disease interactions, and their active communication ties all the industries, doctors and researchers together. Without their input, the system falls apart.
“They drive much of the progress and their collaboration advances the field,” Mason said. “Rare patient communities are educated and powerful forces that hold us accountable to deliver meaningful outcomes.”
By building communities with each other, patients create groups that can benefit their mental health while being the messengers of important information. When patients or people close to patients share their experiences with doctors, they can offer valuable information about resources to others who may have the same or similar diseases.
“Our community shares everything,” Executive Director and Co-Founder of Decoding Developmental Epilepsies, Gabi Conecker said. “I think it is the easiest, fastest and best way for us parents to get the information.”
The flow of information is halted without outlets like these, emphasizing their role in equipping families with the tools and knowledge needed to handle their or their loved ones’ diagnosis.
“Resources are only good if you know about them and where to go for them,” Dwarfism awareness advocate, high school teacher and parent to a child with Achondroplasia, Kate McLeod said.
The benefits of these communities are not superfluous to research advancements though. They provide spaces for a demographic prone to isolation to feel seen and heard, which can have significant mental health benefits. A study by NIH showed that when people feel represented and part of a community, there can be a notable reduction in reporting of depression, anxiety and stress symptoms.
“They [communities] are the emotional and companionship support pathways,” Cristol Barrett O’Loughlin, founder and CEO of Raregivers said. “We’ve been really encouraging our pharmaceutical industry partners to lean in on the emotional support.”
The non-profit organization designed to offer emotional support services to members of the rare-disease community, Raregivers, along with NORD, are just a few examples of the various organizations that provide a space for people who are looking to connect with a community.
“There’s some internal things that people need to do, which is to ground yourself in building a support system, reaching out to your local community and to patient advocacy organizations that may exist, and if they don’t exist, you can reach out to organizations like NORD,” Gavin said. “We have a database of people who are looking to connect with others, building relationships with your clinical community.”
Some different steps in medical advancements include modern technologies and world class doctors, but what ties all of their work together is communication, which creates more efficient assistance towards patients. But for the work to really pay off, you need a good patient advocacy system, which can only happen through connection from different communities in the medical and patient world.
“Rare [disease] patient communities are educated and powerful forces that hold us accountable to deliver those meaningful outcomes that matter most today,” Mason said. “We must continue this hard work for rare and ultra rare patient communities.”