Horizon physician wins national, provincial awards for work in neuromuscular disorders

FREDERICTON – Dr. Colleen O’Connell, physiatrist, Medical Director and Research Chief at Horizon’s Stan Cassidy Centre for Rehabilitation (SCCR), in Fredericton, has been named Outstanding Healthcare Partner for 2021 by Muscular Dystrophy Canada (MDC).

MDC says this national title recognizes and celebrates Dr. O’Connell as a champion for neuromuscular disorders, who does so with courage, determination, passion and caring.

“We are honoured to highlight Dr. O’Connell as our Healthcare Partner of 2021,” said Dr. Homira Osman, VP, Research and Public Policy, Muscular Dystrophy Canada. “She is truly a partner: to patients, families, neuromuscular specialists, allied health care professionals and policy makers. Her expertise in physical and rehabilitation medicine, research and public policy, as well as educating the next-generation of clinicians is invaluable, and MDC is extremely fortunate to have such a passionate, dedicated partner.”

Dr. O’Connell played an integral role in establishing the Adult Spinal Muscular Atrophy (SMA) Clinic at SCCR. The clinic, which is a team effort, is the first of its kind in Atlantic Canada, and one of only a few of its kind in all of Canada.

“It’s certainly humbling, to be recognized by the advocacy group that represents patients and their families, it’s really quite special,” Dr. O’Connell said.

In addition to the national award from MDC, Dr. O’Connell was recently recognized with two provincial awards. First, was the Honourable Andy Scott Award, as part of the 2021 Disability Awareness Week Awards in June 2021. Established in 1988, the Premier’s Council on Disabilities presents awards to individuals who have made a significant contribution toward improving the lives of people with disabilities.

Then in December 2021, Dr. O’Connell was awarded with one of Ability New Brunswick‘s 65th Anniversary Commemorative Medals.

“Dr. O’Connell [Colleen] works tirelessly as a clinician and researcher to provide the best possible care for SCCR patients, many of whom have mobility challenges,” said Jennifer Beaulieau, Administrative Director of Horizon’s SCCR.

Adult SMA

SMA is a genetic condition with a variety of severities of the disease. MDC says it affects one in every 6,000 live births, and about one out of every 40 people are genetic carriers of the disease (meaning they carry the mutated gene but do not have SMA).

It can be diagnosed at birth, and other forms can affect people when they’re older. SMA affects the nerve cells that control voluntary muscle. These nerve cells are called motor neurons, and SMA causes them to die off.

People with SMA are generally diagnosed as having one of four types based on their genetics and pattern of disease.

  • Type I (severe) – also known as infantile-onset or Werdnig-Hoffman disease
  • Type II (intermediate) – childhood onset
  • Type III (mild) – also known as Kugelberg-Welander disease, juvenile onset
  • Type IV – also known as adult SMA

“People experience progressive weakness. In the most severe forms and before drug therapies, most children did not have a long survival,” Dr. O’Connell said.

In the last few years, drug treatments have been developed, and children can survive.

“These medications are a game changer. Children can actually survive and thrive, if they’re treated with these medications. This is a disease that finally has a treatment,” said Dr. O’Connell. “Which is why the organization of dedicated clinics are highly important.”

The Adult SMA Clinic

The drug treatments now have emerging evidence to support adults living with the disease, and that’s part of the motivation and need to formalize an Adult SMA Clinic.

“For many, there’s been no real hope for treatment of this condition other than symptomatic management, and now there are treatments available that could change the trajectory of the disease,” she said. “So it’s extremely important for patients to have access to experienced clinicians and teams to evaluate, manage treatment plans and help optimize their function and quality of life.”

Like any clinic, clients are referred by their primary care provider or neurologist. At the clinic, they are assessed by an interdisciplinary team that addresses the whole person.

Team members look at function, quality of life, treating issues associated with SMA such as nutrition, respiratory function, mobility, equipment needs, communication needs, and pain management.

“We do standardized outcome measures in order to follow their progress,” Dr. O’Connell said. “For diseases such as Lou Gehrigs disease, being affiliated with and followed by an interdisciplinary team can improve survival. Clients are more likely to access the appropriate therapies at the appropriate time. They receive proactive care.”

“Coordinated and collaborative care can minimize the stresses and burdens on the family, such as not knowing who to turn to for different needs. We’re able to make appropriate recommendations for equipment, treatment, nutrition, their breathing in a timely way,” she said. “That care is coordinated, so you’re not going to multiple different places in order to access various care needs.”

When a client is at the clinic, they are there for at least half a day, seeing the interdisciplinary team that includes a physician, nurse, physiotherapist, occupational therapist, speech pathologist, dietitian and specialized therapists such as assistive technologies and communications specialists.

“Interdisciplinary means the team members work together, as there are a lot of cross needs clients have,” Dr. O’Connell said.

For instance, if a dietitian is going to work on nutrition with a client, they will work in tandem with the speech language pathologist, to address swallowing.

Currently, there are about 30 clients being followed at the SCCR, which includes both pediatric and adult clients, with about 25 referred to the new adult clinic.

Research grant

Dr. O’Connell’s research team has also engaged in the SMA field. Medical student Jeremy Slater, along with Dr. O’Connell, lead a national consensus initiative to develop a recommended standardized toolkit of outcome measures for adult SMA.

“This project provides guidance on what measures all clinics and providers should be using when managing adult SMA patients,” Dr. O’Connell said.

The results of the standardized toolkit of outcome measures were published this year, and following that, Dr. O’Connell and the team received a small research grant to further explore measures that can be incorporated into clinic practices.

“We will study outcome measures that address identified gaps in patients’ perspectives and objectives, which are called patient reported outcome measures, as well as looking at those outcomes around speech, communications and swallowing,” Dr. O’Connell said. “The pilot research is being done at our clinic.”

Game changer

At SCCR, the team has been seeing and following SMA clients for years, but only since March 2021 has it been done through a dedicated and coordinated clinic format.

“The clinic was spurred on by the fact that there are now treatments and a lot more measurements and evaluations that need to be done with patients,” Dr. O’Connell said.

Because of the drug treatments, infants born with SMA are living and may eventually need services from the adult teams.

“It’s a massive game changer because these are kids that would have died,” Dr. O’Connell said. “Now these kids are able to sit, walk, and eat. They become young adults that we may now see in our clinic.”

There is now emerging evidence to support adults living with the disease.

“The studies initially just treated babies and kids, but now the studies are showing results that adults that might be able to be helped by some of these news drugs, too.

Dr. Colleen O’Connell is a Physiatrist and Medical Director and Research Chief at Horizon’s Stan Cassidy Centre for Rehabilitation. She completed her Doctor of Medicine from Memorial University, after completing her Bachelor of Science from St. Francis Xavier University. She completed residency in Physical Medicine and Rehabilitation at Dalhousie University, and is a fellow with the Royal College of Physicians and Surgeons of Canada. She has been practicing at the Stan Cassidy Centre for Rehabilitation since 2000.