Rare Disease Day Event Focuses on Raising Awareness

By Dirk Hoffman

But in genetics, zebras are everywhere and have become the symbol for rare diseases. According to the National Institutes of Health, more than 7,000 rare diseases have been identified, with almost 80% of them having a genetic origin.

“Rare Can Be Anywhere” was the title of the Rare Disease Day program held Feb. 28 at the Jacobs School of Medicine and Biomedical Sciences. It was co-sponsored by the Jacobs School and UB’s School of Pharmacy and Pharmaceutical Sciences.

Rare Disease Day is an international initiative aimed at raising awareness of rare diseases by sharing the experiences of patients and presenting groundbreaking research toward treating and, in some cases, eradicating the diseases.

The idea for the Jacobs School to host the event started in 2023 with Meagan L. Collins Hutchinson, a trainee in the MD-PhD Program, with a longstanding interest in rare diseases.

“This year’s event was a huge success. We had numerous presentations, posters, patient advocacy group exhibitors, and even metabolic nutrition tables,” Hutchinson said. “We are so grateful to have the support of the Jacobs School of Medicine and Biomedical Sciences, the UB School of Pharmacy and Pharmaceutical Sciences, and the community.”

Hutchinson noted that several sites, including the Peace Bridge, Niagara Falls, and the Electric Tower building downtown, participated in the #LightUpForRare initiative to raise awareness by displaying the Rare Disease Day colors of pink, green, blue and purple. 

Approximately one in 10 individuals in the U.S. are affected by a rare disease.

“This means that we all have co-workers, neighbors, friends and family members who live with a rare condition,” Hutchinson said. “By raising awareness for rare diseases among clinicians and community members, we can collectively work to improve diagnostics and clinical care across disciplines.”

“Patients and caregivers describe the rare disease diagnostic odyssey as overwhelming and isolating. By bringing people together on Rare Disease Day, I hope they feel less alone, since these disorders are collectively common,” said Lindsey M. Alico, clinical assistant professor and director of genetic counseling in the Office of Biomedical Education.

In a presentation titled “From A to Z on ASMD,” Justin Hopkin, MD, a native of Wyoming and chief of the Division of Hospital Medicine at the University of Rochester, chronicled his family’s journey of dealing with a rare disease diagnosis.

Garrett, the youngest of his three children was diagnosed with ASMD (acid sphingomyelinase deficiency), around his first birthday.

Historically known as Niemann-Pick disease types A, A/B, and B, ASMD impacts multiple organs with symptoms that can worsen over time.

Garrett had entered the world appearing healthy, but at around 6 months he began to have difficulty sleeping and began losing ground on the growth charts. An enlarged spleen was detected at one year of age, which led to concerns about cancer, but testing for metabolic disorders ultimately led to the ASMD diagnosis.

“There were no FDA-approved therapies for ASMD then,” Hopkin said. “Like many other rare disease parents, we were told to go home and enjoy Garrett for the few years the specialists anticipated we would have with him.”

To the family’s amazement, Garrett failed to regress the way they assumed he would between the ages of 2 and 5, somehow persevering through numerous ICU admissions, medical emergencies and surgeries.

Then the Hopkin family received some life-saving news: Garrett was one of 18 pediatric patients who had been selected to participate in a clinical trial to study enzyme replacement therapy for ASMD.

The only clinical trial site was in Manhattan, so the Hopkin family moved from Wyoming to New York.

Garrett was actually in an ICU unit when the family learned he had been accepted into the clinical trial.

“It took a lot of guts by the clinicians to put a kid who was so sick into a clinical trial because you want clinical trials to succeed and they were sticking their necks out,” Hopkin noted.

The ASCEND clinical trial showed that olipudase alfa improved lung function, reduced organomegaly, and improved lipid levels.

“Today, Garrett is 14 years old. He goes to school and is living his best life,” Hopkin said. “Every day is a gift. We have been playing with the house’s money for a long time.”

Blake Davis, 12, and his mother, Anne Marie, presented a talk titled “Blake’s CRMO Journey: A One-in-a-Million Diagnosis.”

Blake recounted that he was leading a normal, healthy life until August 2023 when he experienced stomach pain and underwent a colonoscopy that led to a diagnosis of Crohn’s disease. He then underwent frequent biologic infusions and steroid treatments.

In December 2023, Blake was unable to bear weight on his left foot and was in extreme pain. An X-ray revealed a foot fracture and an MRI showed a bone infection.

Soon, Blake was no longer able to stand erect and his back was in extreme pain. A subsequent MRI showed multiple lesions on the spine that caused a fracture.

Blake was subsequently correctly diagnosed with CRMO (chronic recurrent multifocal osteomyelitis), a rare autoinflammatory bone disease.

The incidence of CRMO is 1:160,ooo to 2 million. The disease is often misdiagnosed due to its rarity.

Ann Marie Davis noted it is a disease of exclusion so many tests are needed to rule other things out before coming to a CRMO diagnosis.

“We were being given pieces of a puzzle that we slowly put together, but we didn’t know what the picture would look like at the end,” she said. “You have to cross everything off before you get to where you are at.”

Multiple X-rays and MRI’s, bone scans, bloodwork, genetic testing and a bone biopsy were all crucial elements in determining Blake’s ultimate diagnosis, his mother said.

“It usually takes two years to diagnose CRMO, but Blake got his diagnosis in two weeks,” she added. “We give total credit to Oishei Children’s Hospital because we had an awesome team of doctors and it was truly a multidisciplinary approach.”

For his part, Blake said he is pain free and back to participating in the sports he loves.

“He is under a pretty aggressive medication plan, which we are still figuring out, and undergoing physical therapy,” his mother said.

Ann Marie Davis credited one of Blake’s health care providers, Mark D. Hicar, MD, PhD, associate professor of pediatrics at the Jacobs School, as being especially responsive.

“There is a lot of value in talking to patients and families. Dr. Hicar was one of the ones who listened intently to what I was saying, and we are so thankful for that because nothing that was stated fell on deaf ears,” she said.

Hicar noted that the clinical presentation of CRMO, also known as chronic non-bacterial osteomyelitis (CNO), is variable, making the condition a very difficult diagnosis.

“You can have a relatively healthy child and then all of a sudden they look like they have bacterial osteomyelitis,” he said. With a waxing and waning presentation that is common, the initial misdiagnosis of bacterial infections or cancer leads to the delay in CRMO diagnosis that is typical.

CRMO really is a one-in-a-million diagnosis so generally a few cases should be expected over a two-to-three-year period in this area because of the population, according to Hicar.

”The highest incidence is in children age 8 to 10, so it is not a disease that is usually found early in life,” he said. Hicar related that the late onset and lack of clear genetic markers make it one of the rare diseases that can’t currently be screened for on the newborn screen.

Nicholas J. Silvestri, MD, professor of neurology, said rare disease patients frequently describe a long and protracted diagnostic odyssey.

Data show the average time to diagnosis is five to six years, but in some cases can be as long as a decade or more.

“The consequences of delays in gaining a diagnosis sometimes lead to uncertainty and lack of faith in the medical community from patients and their families,” Silvestri said.

Multiple hospitalizations and tests, misdiagnoses and perhaps inappropriate treatments, are often a part of the process.

Silvestri said when he takes a patient history, he tries to listen without interrupting, forming questions in his head, but not asking them until the patient is finished telling their story.

He said he thinks it also important to “wipe the slate clean” when it comes to rare diagnoses, especially when the patient has seen multiple doctors.

“I am at the point now where I rarely look at the 3,000 pages of data that comes with a patient before I see them because I don’t want to be biased,” he said. “I want to listen to the story, and I want to come up with my own differential diagnosis before I hear what doctors A to Z said before me.”

Silvestri said it also important for doctors to question every diagnosis, especially their own.

Linda K. Ramsey, an administrator in the Department of Pediatrics, has been an ambassador for the United Mitochondrial Disease Foundation for 27 years, since her son was diagnosed with mitochondrial disease and passed away as an infant.

“It is exciting to see so many medical students here learning about rare disease, to look for that zebra, and for UB to keep growing this event every year,” she said.

“I hope participants met someone new with a common interest in highlighting rare diseases,” said Alico, the genetic counseling director. “Growing the network of health care professionals with knowledge of rare diseases in the area will hopefully decrease the time to diagnosis for these patients and improve their overall experience.”