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Research and connection bring hope to rare disease patients and families

February 25, 2022

By Peter Linsley, Kerry Holland

In recognition of #RareDiseaseDay, Elsevier is making select research articles and book chapters freely available for two months

As the mother of a boy with a rare congenital heart defect, Elsevier’s Melanie Tucker talks about the value of community for patients, caregivers and researchers. Melanie is a Senior Content Strategist for Elsevier’s Neurology, Radiology, Psychiatry and Sleep Medicine books program. In her 20th week of pregnancy, Melanie Tucker went for a routine ultrasound. What followed was anything but routine. Melanie and her husband learned of their son’s diagnosis: Tetralogy of Fallot(opens in new tab/window) — a complex congenital heart defect that occurs in about 1 in every 3,000 births.

Since his birth, Melanie’s son has undergone multiple surgeries and procedures, and will be followed closely by cardiologists as he gets older. “As parents,” Melanie said, “it is heartbreaking to see your children endure any pain.”

You just want them to lead healthy and happy lives. Our son is the bravest and strongest little boy, and my husband and I are always in awe of his tenacity and strength. Although we have to take certain precautions, especially during COVID, and he has doctor appointments and procedures, he is a happy little boy attending Pre-K and loves coloring, reading and playing.

Now, Melanie, a Senior Content Strategist at Elsevier for Elsevier’s Neurology, Radiology, Psychiatry and Sleep Medicine books program, has a message for other families and patients who are beginning their journey with a rare disease diagnosis:

Although it is scary, please know you are not alone.

Throughout their experience with rare disease, connecting with others has made all the difference in their outlook: “There are communities of patients and parents who understand exactly what you are going through. They can offer advice, support, and share their experiences.” Dedicated organizations also provide additional resources and community, while research brings hope for new and less-invasive treatments.

Although Melanie and her family received an early diagnosis, this is not always the case for rare disease patients.

"Every genome we analyze in the lab is, in reality, a person ..."

Dr Claudia Gonzaga-Jauregui(opens in new tab/window) is a Principal Investigator in genomics at the International Laboratory for Human Genome Research at the National Autonomous University of Mexico (UNAM)(opens in new tab/window). She earned her PhD in Molecular and Human Genetics from Baylor College of Medicine(opens in new tab/window), where she contributed to large population genomic studies and pioneered the analyses of genomic sequencing data for the identification of disease genes and molecular diagnoses.

One of Claudia’s first patient interactions was to communicate the result of a SYNGAP1 variant in a boy that had been a medical mystery for a long time:

I met the boy and his mom, and seeing the people behind the data I had analyzed in the lab — and the emotion of the mom when receiving the result of the genomic study, finally having an answer for her child after many years — was very meaningful and impactful. It emphasized how every genome that we analyze in the lab is, in reality, a person that is struggling with a disease and waiting for an answer.

Since leaving Baylor and returning to Mexico, Claudia has dedicated her career to the study and identification of novel genes responsible for rare genetic disorders, to provide answers to patients with undiagnosed diseases. For Claudia, connection and collaboration drive her rare disease work:

I think the rare disease community realized very early on that we needed to work together to find answers for our patients. … We had one patient with a very likely new disease gene, but we needed to find other patients to be sure. Finding the second or third or more patients for a completely new condition is motivating because it means that there are, and likely will be, more patients elsewhere in the world, and perhaps our findings and publications will help get those other patients diagnosed faster and open opportunities for therapy development.

Research on rare diseases

Claudia is one of dozens of authors whose work Elsevier has made freely available for 60 days beginning on Rare Disease Day(opens in new tab/window) February 28. Content includes Clinics(opens in new tab/window) review articles and articles and chapters in our books and journals, including the Cell Press(opens in new tab/window) portfolio — all intended to support researchers and clinicians in identifying the molecular basis of these diseases, advancing drug discovery and drug repurposing efforts, translating findings to the clinic, and counseling patients and families.

Articles from Elsevier’s Clinics and books detail a range of specific diseases, from rare congenital malformations to neurological disorders.

Rare diseases, by definition, affect a small number of individuals compared to the general population. In the United States, a disease is called rare if it affects fewer than 200,000 people at any given time(opens in new tab/window). In Europe, the ratio is 1 affected person in 2,000(opens in new tab/window). The total number of known, named rare diseases worldwide falls somewhere between 6,000 and 8,000 conditions. Although each individual disease is uncommon, their collective prevalence is estimated at 6 percent to 8 percent of the world population, implying that 450 million people have a rare disease(opens in new tab/window).

In other words, rare diseases are not as rare as they seem.

“It always comes down to the human aspect.”

Dr Donald G Basel(opens in new tab/window), Section Chief, Professor and Associate Director of the Undiagnosed & Rare Diseases, Genomic Sciences and Precision Medicine Center at Children’s Wisconsin(opens in new tab/window), has been working in genetics for 22 years.

Regardless of whether conditions are obscure or occur more frequently, he said:

It always comes down to the human aspect — that connectedness where you feel the bond between patient and doctor and the ‘rightness’ of the research outcome that you know will drive future thinking.

Dr Basel and his mentor, Dr Robert Kliegman(opens in new tab/window), Chair Emeritus of Pediatrics at the Medical College of Wisconsin and Editor of the Nelson Textbook of Pediatrics(opens in new tab/window), are motivated by their mantra: “None of us are as smart as all of us.” It drives home that treating rare diseases is a team sport and everyone’s strengths contribute to the overall outcome of patients.

Further, this inter-connectedness of researchers and clinicians in the rare disease community plays a crucial part in ensuring access to medical evaluation.

Dr Brett J Bordini(opens in new tab/window), a founding member of the Medical College of Wisconsin’s rare disease evaluation service along with Dr Kliegman, believes that the future of rare disease research and clinical care is going to require making sure that this wider availability is paired with a strong focus on equity in terms of access:

Enhanced broad network building paired with the ongoing development of localized evaluation teams can help ensure better equity with respect to diagnostic access and can ensure that everyone has an equal opportunity to attain diagnosis for their rare disorder.

About Rare Disease Day

Every year, the last day of February promotes awareness of rare diseases and the patients that suffer from them, as well as access to medical treatment and representation. Advocacy is critical for patients and their families(opens in new tab/window). By improving disease understanding, connecting families with one another and with researchers, fundraising for research, or sharing resources, rare disease initiatives provide much needed support to patient communities. The National Organization of Rare Disorders(opens in new tab/window), Perlara(opens in new tab/window), the Rare Genomics Institute(opens in new tab/window), the Iberoamerican Alliance for Rare Diseases(opens in new tab/window) and Global Genes(opens in new tab/window) are just a few organizations that have provided meaningful outcomes for patients and families. Meanwhile, Orphanet(opens in new tab/window) and NIH – GARD(opens in new tab/window) (Genetic and Rare Diseases Information Center) gather and share information on thousands of rare diseases, along with other resources, to improve diagnosis, care, and treatment.