Highlighting Advancements in Treatment of Rare Diseases

By Dirk Hoffman

Co-hosted by the Jacobs School and the School of Pharmacy and Pharmaceutical Sciences, the event, titled “Diagnose Earlier, Treat Smarter: Innovations in Rare Disease Patient Care,” brought together students, clinicians, researchers and advocates to raise awareness about rare diseases through education, collaboration and community engagement.

There are more than 7,000 known rare diseases affecting approximately 300 million people worldwide. 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 point of this event was to bring together researchers, patients, advocates, students from multiple UB schools and clinicians who treat patients with rare diseases,” said Lindsey M. Alico, director of the Genetics Counseling Graduate Program in the Jacobs School and clinical assistant professor of biochemistry and pediatrics.

Forty-five research posters on rare diseases were presented and several organizations presented information at an advocacy tabling session at the event held in the Jacobs School atrium.

“We hope we can continue to do this together year in and year out to support those with rare diseases by raising awareness of their challenges and advocating for equitable care,” Alico told attendees at the event’s conclusion. “We actually doubled since last year the number of posters and attendees so thank you to all for helping to get the word out.”

In one session, Sara Gartland, the mother of a child with cystic fibrosis (CF), spoke about her experiences. She was joined by Danielle M. Goetz, MD, clinical associate professor of pediatrics, and director of the Cystic Fibrosis Center of Western New York at Golisano Children’s Hospital of Buffalo. 

Goetz, who sees patients through UBMD Pediatrics, spoke briefly about the advances in cystic fibrosis treatments and the evolving models of care due to those advancements.

She mentioned that 50 years ago, children with CF were dying in their school-age years.

Now, babies born with CF are projected to live, on average, to the age of 65.

Goetz noted a turning point occurred in 1989 when the CF gene was discovered — eventually leading to the development of cystic fibrosis transmembrane conductance regulator (CFTR) modulator drugs such as Trikafta.

Gartland told the audience that she was coming “as someone who has witnessed firsthand how early diagnosis, compassionate counseling and collaborative medical care can dramatically change the life of a child.”

At 12 weeks pregnant, she learned that her son, Joe, had a 9 in 10 chance of having CF.

“We found ourselves navigating complex decisions sooner than we ever imagined,” she said. “But what made an enormous difference was the support that immediately surrounded us.”

Gartland noted that she and her husband got connected with a genetic counselor who was “able to explain our results to us clearly and compassionately.”

They were then referred by their obstetrician to the Maternal Fetal Medicine Center team at Golisano Children’s Hospital of Buffalo, and ultimately to Goetz and her team.

Gartland said she decided to move forward with an amniocentesis at 16 weeks and at around 18 weeks her son’s diagnosis was confirmed.

“That waiting period between the amnio and the results was very difficult, but it was also when the MFM team connected us to Dr. Goetz and that first meeting with her was when we received our first real reassurance that our son could have a healthy and full normal future thanks to the advances in CF treatments,” she said.

At 30 weeks, tests found that Joe was at risk of developing meconium ileus, a serious type of small bowel obstruction often requiring surgery that occurs in 2o% of babies with CF.

“At the same time, based on emerging case studies, the team worked together to get me access to Trikafta,” Gartland said. “I do not have CF, but I took Trikafta for the last four weeks of my pregnancy. The case studies demonstrated that in utero exposure to Trikafta could assist in treating meconium ileus.”

“It was one of the decisions that changed Joe’s life.”

Gartland continued to take Trikafta while breastfeeding for about six months and then Joe started taking Trikafta directly, becoming the first child in the area under the age of 2 to do so.

At 8 months old, Joe’s labs showed he was pancreatic sufficient and at 11 months, he was able to wean off pancreatic enzymes and continues without them today.

“For Joe to become and remain pancreatic sufficient after early modulator exposure is truly extraordinary,” Gartland said. “It is not a typical pattern seen and underscores how profoundly modulators impacted his health.”

Gartland said if she had one message for health care workers it was that “communication matters. The way providers spoke to us with compassion and clarity shaped our entire experience.”

Norah S. Lincoff, MD, professor of neurology and one of the few trained adult neuro-ophthalmologists in the area, brought a patient of hers to talk about Susac syndrome, a rare autoimmune disease where the immune system attacks endothelial cells in the small blood vessels of the brain, retina and inner ear.

It typically causes a triad of symptoms: encephalopathy (acute confusion), branch retinal artery occlusions and hearing loss.

“The main reason I present this today is that if just one of you catches one case and teaches all of the physicians around you — then this disease will not be as rare as it is today,” Lincoff said.

First described in 1979, there are reportedly only 400 known cases of Susac syndrome.

But Lincoff, who sees patients through UBMD Neurology, said she is skeptical of that number because she has encountered six cases since 1992.

“We are missing them. They are being misdiagnosed,” she said, often as encephalopathy of unknown cause or atypical multiple sclerosis because of MRI findings.

Lincoff introduced her patient, “J.Y.,” a musician who was inducted into the Buffalo Music Hall of Fame in 2024, by playing a music video of him performing in his younger days.

“He played at the Grand Ole Opry in Nashville three times,” Lincoff said. “Right after the third time, he stopped being able to sing like this, he stopped being able to hear, he stopped being able to walk, or think clearly.”

J.Y. noted he was playing gigs six or seven nights a week, but then his drummer informed him he was calling for the same songs two or three times a night, and his lyrics were turning to gibberish at times.

“I started having such bad headaches that I had to put my head between my legs and will them to go away,” he said. “I did not know what a guitar was at one point and I couldn’t make it up the steps of my South Buffalo home.”

“They took me to the hospital and when they wheeled me up to the desk, I didn’t know my name. When they asked me my age, for some reason I chose 3.”

Lincoff said Susac syndrome patients often benefit from being treated with intravenous immune globulin (IVIG), a concentrated antibody treatment derived from human plasma.

“This medication pretty much stops it in its tracks. It does not reverse the disease, but halts the severe progression, and then the patients can go on and live a pretty normal life,” she said.

Lincoff noted patients who develop new lesions need to go back on IVIG or receive a higher dose of the medication.

J.Y. said one year after his treatments started, he was able to begin performing again.

Lincoff was asked how one makes the proper diagnosis instead of thinking the condition is an outlier such as atypical MS.

“Therein lies the problem, unless you know the triad, you will miss the diagnosis,” she responded.

“This is the triad I do not want you to ever forget,” Lincoff told the audience. “If someone has hearing loss, look in their eyes and image their brain, do a retinal exam, and with an MRI look for white matter lesions that do not look like MS. If there are brain lesions, look at hearing and the eyes.”

“If you know the triad, you will find the disease and make this rare diagnosis much less rare.”

Soo-Kyung Lee, PhD, Empire Innovation Professor and Om P. Bahl Endowed Professor in the Department of Biological Sciences in the College of Arts and Sciences, talked about her work studying the gene that causes FOXG1 syndrome and developing a drug to treat it, which the Food and Drug Administration has now cleared to start a clinical trial.

Lee and her husband and scientific partner Jae W. Lee, PhD, professor of biological sciences at UB, are the parents of a child with FOXG1 syndrome, a rare neurodevelopmental disorder marked by cognitive and physical disabilities and epilepsy.

Other sessions focused on pediatric leukemia, mitochondrial disorders and the expansion of genetic testing.

Laura Seil Ruszczyk was manning an advocacy table for dysautonomia, an umbrella term for disorders of the autonomic nervous system (ANS) that impair involuntary body functions like heart rate, blood pressure, digestion, and temperature regulation.

Dysautonomia patients deal with varied symptoms including dizziness, fainting, unstable blood pressure, abnormal heart rates and malnutrition.

Seil Ruszczyk said she was diagnosed with dysautonomia in 2011.

“It’s harder to diagnose because the symptoms can vary,” she said. “Not a lot of doctors treat it, so it is hard for people to look for dysautonomia help.”

Seil Ruszczyk said she has chosen to live her life the best she can despite her chronic conditions, but acknowledged there are days she cannot get off the couch and there are days when she cannot drive.

“If I stand up and do not move, the blood pools and my blood pressure drops and I feel icky. My heart started beating so slow that I needed a pacemaker,” she said. “The autonomic nervous system is not working properly so it affects all the systems in your body that most people take for granted and it can cause some crazy symptoms.”

Others like pupil dilation and temperature regulation — feeling hot and cold and not being able to control it — are common occurrences.

The Hamburg resident is also an advocate for Dysautonomia International, an organization that raises money for research and is starting to offer fellowships for doctors who specialize in autonomic disorders.

Seil Ruszczyk said she finds a kindredship in coming to events such as Rare Disease Day or a conference with hundreds of people with dysautonomia.

“It’s great. If I cross my legs and stand funny or if I lay on the floor because I must, nobody cares. We just do what we have to do to be OK.”

Rare Disease Day event organizers were Alico; Meagan L. Collins Hutchinson, a trainee in the MD-PhD Program who launched UB’s first Rare Disease Day event in 2023; and Mary Riedy, PharmD, Margaret Hempling McGlynn Endowed Chair in Clinical Pharmacy and clinical assistant professor of pharmacy practice in the School of Pharmacy and Pharmaceutical Sciences. Also assisting the effort were Linda K. Ramsey, an administrator in the Department of Pediatrics, and Desiree Herman, a PharmD candidate.