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A new study published in February 2020 in the journal JAMA Otolaryngology-Head and Neck Surgery shows that using mainstream media to depict rare diseases in a realistic manner can prompt greater public awareness and support for such conditions.

Rare diseases have a very small presence in this world, affecting about 400 million people around the globe. Despite the very few cases of each kind of disease, they often cause a lot of suffering and require significant treatment and rehabilitation. In other words, they create a heavy burden in financial terms as well as the amount of care they need, both on the patients and the health care system. Yet it is challenging to mobilize funds for research, prevention, and treatment, to raise awareness about the condition, or to get sufficient manpower.

Increasing the level of awareness is an urgent necessity, therefore. One possible way out is to show television shows focusing on these conditions as part of widely seen programs. One is the Netflix series, Stranger Things, which showcases the life of Dustin Henderson, a fictional individual born with the rare disease cleidocranial dysplasia (CCD). Henderson is portrayed by actor Gaten Matarazzo III who himself has this condition.

LOS ANGELES – JUN 28: Cast at the "Stranger Things" Season 3 World Premiere at the Santa Monica High School on June 28, 2019 in Santa Monica, CA. Image Credit: Kathy Hutchins / Shutterstock

CCD is a genetic condition in which the clavicles, or collar bones, and the teeth fail to grow or grow abnormally. These features are emphasized in scenes where Dustin is explaining the condition to his friends and colleagues.

However, symptoms vary between patients, even in the same family. CCD currently affects 1 in a million children the world over, both boys and girls.

The early features of abnormal bone development include a prolonged period of open fontanelles when the bones of the skull remain separate at the front and back of the head for more than the usual length of time. The absence of complete collarbones may make the chest appear narrow, and the shoulders are sloping. In fact, many of these children can make their shoulders touch in front.

Bone density is low, the pelvis is narrow, and the height shorter than expected. Baby teeth are lost early, and the secondary teeth arrive late, which may cause the jaw to be crowded with teeth and the jaw misaligned.

The disease is due to an abnormality of the RUNX2 gene, mostly due to a de novo mutation, that is, one which arises at random in the developing embryo rather than being inherited from the parents. If one of the two copies of this gene is affected, the condition will manifest itself.

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Treatment could include dental replacements, speech therapy, treatment of sinus and ear infections, supplementation with vitamin D and calcium, and protecting the head from trauma until the bones are fused.

The study

The current study uses Google Trends and data from websites related to CCD to examine the link between how the condition is portrayed on television shows and the resulting increase in public interest and awareness of CCD.

Google Trends was used to look at the trends for searches focusing on CCD after the show Stranger Things was released. The researchers did a worldwide search for searches with this keyword, over a 5-year period from 2014 to 2019. Also, they asked several foundations dealing with CCD, such as the Children’s Craniofacial Foundation, about any increase in the number of calls or website hits after each season’s release of Stranger Things. This was compared with the expected traffic.

The findings

The researchers found that search interest surged by over 94% after the third season’s release of Stranger Things. In comparison, an increase of about 11% and almost 13% was seen after season 1 and season 2.

Public interest in CCD was reported to increase by all websites related to this topic. However, quantifiable data were obtained only from the foundation About KidsHealth, which had, on average, 5 to 80 views of the CCD page each week, but in the week succeeding the third season’s release of the show, 10,000 visits.

Implications

The portrayal of the condition on the popular television show has helped spark interest in many individuals. Each season has seen a spurt in weekly searches above the predicted number. Meanwhile, Matarazzo has participated in setting up the new foundation CCD Smiles, which is focused on raising awareness of this condition around the world, helping affected people with their dental work, and helping research.

The importance of harnessing celebrity power is vast reach it can offer via already existing links to the public and the media.

And when public awareness increases, funding goes up, early diagnosis is more likely, treatment becomes more broad-based, and people learn to understand and cope with the disorder. This, in turn, helps those affected by it to develop more coping strategies, feel a greater sense of integration into the broader community, and have a better quality of life.

The media also has a catalytic role in helping hundreds of thousands of people to understand such conditions better and to make sure they are correctly represented. Accurate artistic depiction of such conditions is guided by the Entertainment Industries Council, which develops material to help writers and producers understand the disease better so they can present it correctly.

However, at present, there is no guide material for CCD and many other rare diseases. Therefore, the study concludes, “Although writers need to exercise caution when portraying characters with rare disorders, the inclusion of such characters in the mainstream media may be a beneficial strategy to raise awareness of them.”

Journal reference:

Johnson AL, Torgerson T, Cooper C, Khojasteh J, Vassar M. Public Awareness of Cleidocranial Dysplasia After Season Releases of Stranger Things. JAMA Otolaryngol Head Neck Surg. Published online February 20, 2020. doi:10.1001/jamaoto.2019.4791

When you're facing a cancer diagnosis with an average survival span of 12 to 18 months, every milestone is a victory. That makes each wedding invitation, graduation announcement and birthday photo that UCI neuro-oncologist Dr. Daniela Bota receives from her patients a cherished validation of her 12 years of groundbreaking research on glioblastoma multiforme, the most aggressive form of brain cancer. "Because of our work, these people have been able to move on with their lives," she says.

Bota has pushed the boundaries of innovation in her quest to increase the survival rates of individuals with brain tumors, especially glioblastomas. The esteemed physician-scientist has taken a truly comprehensive approach to battling this rare disease, which has a five year survival rate of only 10 percent and claimed the lives of U.S. Sens. Ted Kennedy and John McCain. Bota has conducted clinical trials of multiple cutting-edge treatments that are improving the quantity as well as the quality of life for glioblastoma patients at UCI and beyond.

'So much potential, so much growth'

Bota grew up in Romania, in a family of engineers. It was assumed she'd follow them into the profession – she was a national mathematics champion in her youth – but Bota had another path in mind. "I wanted to make a more significant contribution," she says. "I wanted to combine my analytical side with a place where I could help others. I ended up becoming an M.D.-Ph.D. to blend both."

At USC, Bota earned a doctorate in molecular biology, focusing on neural degeneration. She then went to the University of Kansas for medical school and a residency in neurology. During her shifts, Bota found herself caring for people with brain tumors – and discovered a new direction for her medical career.

The generosity and gratitude of brain tumor patients make it so rewarding to care for them. I see it again and again at UCI. Many of these patients have a terminal diagnosis, but they're volunteering their time and energy to participate in our clinical trials to help us build a better treatment and, hopefully, in the future, a cure."

Dr. Daniela Bota, UCI neuro-oncologist

After a neuro-oncology fellowship at Duke University, Bota joined the faculty of UCI's School of Medicine and the Chao Family Comprehensive Cancer Center in November 2007. "Both my career and UCI in general have grown so tremendously over the dozen years since," says Bota, who's now co-director of the UCI Health Comprehensive Brain Tumor Program. "There has been so much potential, so much growth, so many changes and so much scientific revolution helping us move forward in so many different directions. It's a very exciting time."

A comprehensive approach

The word "comprehensive" carries significant weight in the realm of cancer care centers. The "comprehensive" designation from the National Cancer Institute recognizes an added depth and breadth of research that bridges multiple scientific areas. Just 51 cancer centers in the U.S. carry the designation; the Chao Family Comprehensive Cancer Center is the only one in Orange County. "We offer one of the most innovative and complex portfolios of clinical trials anywhere in the world," Bota says.

Her own multipronged attack against glioblastoma multiforme reflects the center's comprehensive approach. Bota's work on the experimental drug marizomib has generated significant attention and hope. Unlike traditional chemotherapy drugs, marizomib can penetrate the blood-brain barrier – the filtering mechanism that prevents many blood-borne substances from passing into brain tissues – and inhibit cancer growth without causing damage to other parts of the brain.

Over the past 12 years, Bota has shepherded marizomib from preclinical development all the way through a 700-person international phase III clinical trial now underway. "We have a number of patients from our clinical trials who are surviving this tumor for longer periods of time than usually expected," she says.

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Amanda Johnson, a 32-year-old freelance writer in Mission Viejo, has been receiving marizomib for two years under Bota's care. Her large glioblastoma tumor – which straddled both sides of her brain – has shrunk so much that it's no longer measurable. She has returned to work on her novel and even joined a gym. "I feel so happy just to be alive," Johnson says.

Larry Johnson, her father, told Fox News, "I don't think [Amanda] has come to realize how important her survival is to other people and families who are going to find themselves in a similar situation."

Bota strives to reach a point where such cases will be so commonplace that they don't make the news. "That's what success looks like – not having a prominent publication or being part of a game-changing discovery," she says. "It's having patients like Amanda still be here and doing well."

Vaccine trials and right to try

To achieve that goal, Bota tenaciously pursues multiple avenues of treatment. She has been a leader in the use of Optune, a device worn on the head that generates an electrical field that disrupts the growth of cancer cells. "We were among the first in the country to explore and use this technology," Bota says. "Now we're working with physicians from other countries to help them adopt it in their practices."

She is also spearheading two clinical trials on cancer vaccines. "Brain tumors hide behind the blood-brain barrier, so the body doesn't recognize them as not being a normal part of the body," Bota explains. "With our vaccines, we extract cellular markers from the patient's tumor and inject them back into the patient to stimulate the immune system to recognize those tumors, attack them and, if possible, eliminate them."

She adds: "Both studies have been well-received in our neuro-oncological community, which is highly promising. And a significant benefit is that the vaccines function with minimal or no toxicity."

In January 2019, one of Bota's patients who was ineligible for both clinical trials was able to access one of the vaccines through the first successful application of the national Right to Try Act. Passed in May 2018, it allows people with terminal illnesses, in consultation with their doctors, to seek treatment with experimental drugs not yet approved by the Food and Drug Administration directly from pharmaceutical companies. "The law puts patients in charge of their care; they initiate contact with the manufacturer and request therapy," Bota says. "It gives patients who don't qualify for clinical trials another option."

"We offer one of the most innovative and complex portfolios of clinical trials anywhere in the world."

Sharing her expertise

Bota eagerly offers her knowledge beyond the doors of the Chao Family Comprehensive Cancer Center. Whenever she and her husband, Robert, a local psychiatrist, travel back to their home country of Romania, she consults with medical colleagues there, as there are no certified neuro-oncologists in the nation. On days when the couple work on their farm in the Transylvanian Alps, locals come to them – often on foot – for medical advice. The two hope to eventually establish a clinic in the area. "I want to make sure that Romania also benefits from my medical expertise," Bota says.

Back on campus, in her capacity as senior associate dean for clinical research, she uses her vast clinical trial experience to help colleagues in UCI's School of Medicine advance their own research projects into the clinical arena.

"I'm excited by the ability to impact the lives of so many people through this role," Bota says. "Whether it's for burns or vascular disorders or other conditions, people come to UCI for the same reason: We can offer what community hospitals cannot. Being able to make that happen, to create new options for our patients, is what wakes me up in the morning."

Source:

University of California, Irvine