Skip to main content
Innovation and Research

“We’re Kind of Like Sherlock Holmes.” Two Gillette Neurologists Share a Passion for Helping Patients Who Have a Rare Disease

Two members of the Gillette team, pediatric neurologists Randal Richardson, MD, and Jamie Eskuri, MD, say finding answers and guiding families through a rare disease diagnosis and care plan is one of the most rewarding parts of their jobs.

Pediatric neurologists Randal Richardson, MD, and Jamie Eskuri, MD, say finding answers and guiding families through a rare disease diagnosis is one of the most rewarding parts of their jobs.

Figuring out if your child has a rare disease is a concerning and challenging puzzle for parents. A child’s primary pediatrician might not be familiar with the symptoms your child is experiencing. As a parent you’re looking for answers and reassurance.

At Gillette Children's Specialty Healthcare rare diseases are common. Our team of highly trained specialists are experts in diagnosing and creating treatment plans for children who have rare diseases. In the United States, a rare disease is defined as a condition that affects fewer than 200,000 people.

Two members of the Gillette team, pediatric neurologists Randal Richardson, MD, and Jamie Eskuri, MD, say finding answers and guiding families through a rare disease diagnosis and care plan is one of the most rewarding parts of their jobs.

“For people who make literary allusions I say we’re like Sherlock Holmes,” Richardson jokes. “We’re like detectives and we’re the ones who work on giving a diagnosis. We’re just the tip of the iceberg in terms of creating a care plan for that child. For example, with our muscular dystrophy patients, I make a diagnosis, but then many aspects of our care are managed by other services at Gillette. These include orthopedics for spine, physical medicine and rehab, pulmonary with lungs and then cardiology for the heart,” Richardson adds.

Richardson’s partner in pediatric neurology, Jamie Eskuri, MD, agrees and says, “As neurologists, we make that initial diagnosis, so we have a big role with patients early and upfront. Then our next step is to guide the patient along and sometimes other providers take more of the ‘heavy lifting’ in terms of ongoing treatment. There’s an incredible amount of teamwork at Gillette.”

Leadership and Breakthroughs in SMA Treatments

Richardson and Eskuri keep Gillette on the leading edge of medical breakthroughs and in helping patients with new rare disease treatments. Richardson is involved in the clinical trials for ground-breaking treatments for spinal muscular atrophy (SMA). It’s a muscular disease that affects the motor nerve cells in the spinal cord and gradually takes away a child’s physical strength. Before treatments became available, SMA was the number one genetic cause of death in infants.

Gillette was among the limited number of providers involved in the expanded access program to treat patients with spinal muscular atrophy type 1 before the FDA officially approved the drug Spinraza ™ in December of 2016. Once Spinraza ™ was approved as a treatment, Richardson became a trailblazer to assure that all children are screened for SMA at birth. Due, in part, to Richardson’s work, beginning in 2018 all babies born in Minnesota are now screened for SMA unless their parents opt out of the newborn screening.

Richardson and Eskuri are pleased more treatment options continue to be developed for SMA patients. In August 2020, the FDA approved Evrysdi (Risdiplam) as a new drug to treat SMA patients who are two months of age or older. This drug can be taken orally at home and, unlike previously approved drugs, Spinraza ™and Zolgensma, it does not involve spinal infusions or intravenous infusions by a medical professional. Richardson calls the development of this new SMA treatment “a game changer.”

Gillette is in the Cure SMA Care Center Network and is active in maintaining and enhancing the Cure SMA Clinical Data Registry. Richardson encourages families to get involved in Cure SMA and the registry. “When you join, you just fill out a bit of paperwork and that opens you up to a network of information and physicians who are clearly dedicated to the care of patients who have SMA,” Richardson says. “When this information is collected, in one sense, it’s like you’re helping to write the owner’s manual for SMA.”

Gillette pediatric neurologist, Randal Richardson, MD,  is involved in the clinical trials for ground-breaking treatments for spinal muscular atrophy (SMA). Due, in part, to his work, beginning in 2018 all babies born in Minnesota are now screeened for SMA

Gillette pediatric neurologist, Randal Richardson, MD,  is involved in the clinical trials for ground-breaking treatments for spinal muscular atrophy (SMA). Due, in part, to his work, beginning in 2018 all babies born in Minnesota are now screeened for SMA unless their parents opt of of the newborn screening. 

"We don't have a crystal ball."

“Academically my job is interesting,” Eskuri says. “But the more fulfilling part of the work we do in neurology is the emotional and social help we can provide parents and children.” The search for answers and treatments can be exhausting, at times, but Eskuri and Richardson are proud Gillette can help light a path and be a guide for families.

“No one ever dreams of having a child that becomes sick,” Eskuri explains. “So to be able to guide people through this process and to provide help is rewarding.”

Richardson agrees. “When you have a child with some sort of a rare condition, you’re going through the ‘diagnostic odyssey,’” he says. “It’s frustrating to not know what the future holds. We don’t have a crystal ball, but we can usually provide some degree of knowledge and input gleaned from collective years of experiences caring for other children who might have a similar condition.”

Eskuri and Richardson are also “connectors”—meaning they bring in other Gillette providers to tap their expertise. They have contacts throughout the U.S. and internationally who they can consult with to find answers and a rare disease diagnosis.

“One of our main roles is to help families process their ‘new normal’ and to provide the best diagnosis and care plan for a child who has a rare disease,” Eskuri says.

Richardson agrees and says, “Parents are afraid of the unknown. We’re providing a light to remove the shadows around that child’s future.”

Rare Disease Day is being marked on Sunday, February 28, 2021. The main objective of the day is to raise awareness about how rare diseases have an impact on people’s lives and our communities.

To make an appointment with the Gillette Neurology department please call 651-290-8707 or to refer a patient call 651-325-2200.

You Might Also Like*

Read more stories of Gillette patients, families and team members who inspire and inform.

Show Results