By Joan Tupponce

Unacceptable.

That’s how neurologist Kelly Gwathmey feels about the up-to-15-month wait patients may endure before being diagnosed with ALS.

This problem is also why she and her team launched a first-of-its-kind pilot program known as the VCU Health Rapid Access ALS Program.

“It’s frightening for patients who have these symptoms,” said Gwathmey, M.D., director of the VCU Health ALS Clinic and chief of Neuromuscular Medicine. “We realized the importance of identifying these patients and diagnosing them early to provide access to needed multidisciplinary care and disease-modifying treatments.”

ALS, amyotrophic lateral sclerosis, also known as Lou Gehrig’s Disease after the legendary baseball player, is a relatively rare neurodegenerative disorder affecting the motor nerve cells that make muscles work. People with ALS experience progressive weakness in their limbs and a gradual worsening of their speech, swallowing, and breathing.

“There is no cure for it,” Gwathmey said. “That’s the reason we should focus on prompt diagnosis, to provide treatments that can extend life and improve quality of life.”

Approximately 5,000 people in the United States are diagnosed with ALS each year, according to the Centers for Disease Control and Prevention. About 90% of those patients have no underlying reason that would cause the disorder. The remaining 10% have a family history and/or a genetic mutation.

The VCU Health Rapid Access ALS Program allows immediate access to an ALS expert as well as same day electrodiagnostic testing for any patient in the region suspected to have ALS.

“The sooner they get access to medicine — there are currently three FDA approved medicines for the disorder on the market — the sooner the medicines work, and patients live longer,” she added. “The sooner they can get into a multidisciplinary clinic, the sooner they can get access to necessary equipment including mobility devices, noninvasive ventilators, and feeding tubes. Also, the sooner they are diagnosed and seen, the greater likelihood they can access clinical trials.”

Regarding ALS diagnostic delays, research conducted by Gwathmey and her team have also found racial disparities. They found that Black patients with ALS have to wait 65% longer to be seen compared to white patients, and that by the time they are seen they have more advanced disease.

“In our patient population, Black patients had a 15-month wait compared to nine months for white patients,” she said.

Addressing delays in diagnosing ALS

Early symptoms of ALS may go unnoticed by the average person. When they do become obvious, patients often visit their primary care doctor first.

“Primary care doctors may only see one ALS patient in their career,” Gwathmey said. “A lot of symptoms, such as drop foot or difficulty swallowing, are not referred to a neurologist first. Patients typically have imaging and other diagnostic studies, performed by non-neurology providers, prior to seeing a neurologist. As a result, patients see many other providers and have often unnecessary testing before ultimately seeing an ALS expert and joining a multidisciplinary clinic.”

The Rapid Access ALS Program came into fruition in 2022. In addition to helping patients get a faster diagnosis and treatment, the program also educates primary care providers and non-neurology specialists who may encounter ALS patients on the signs and symptoms of the condition.

“We have provided webinars and a brochure on the clinic describing the signs and symptoms and including the thinkALS tool TM – developed by the ALS Association and Time to Diagnosis Working Group – to guide providers to refer suspected ALS patients directly to the Rapid Access ALS Clinic,” Gwathmey said.

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If they appear to have ALS, we can get things going immediately. In this clinic, we have a social worker, occupational therapist, respiratory therapist, registered dietician, and nursing staff who help support the patient and caregiver. 

Kelly Gwathmey, M.D., director of the VCU Health ALS Clinic and chief of Neuromuscular Medicine

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The ALS clinic takes care of patients from across the region, which includes Virginia, North Carolina, West Virginia and Tennessee and sees on average six patient referrals a month. Not all referrals end up leading to an ALS diagnosis, but the team is still able to provide patients and their loved ones with some answers. From September 2022 to May 2024, the clinic assessed 70 patients. Thirty-three of those patients were diagnosed with ALS, eight with other forms of motor neuron diseases and 29 non-ALS neuromuscular or neurological conditions.

One of greatest benefits of the Rapid Access ALS Program is that the clinic can perform an electromyography (EMG) test to help make the diagnosis of ALS and give patients the results on the same day.

“If they appear to have ALS, we can get things going immediately,” Gwathmey said. “In this clinic, we have a social worker, occupational therapist, respiratory therapist, registered dietician, and nursing staff who help support the patient and caregiver.”

The VCU Health ALS Clinic, an ALS Association Center of Excellence, becomes the home team for the patient and their caregivers, providing excellent care for the duration of their lives.

Patients receive multidisciplinary care from different disciplines, including neurology, physical therapy, occupational therapy, speech language pathology, registered dietician, respiratory therapist, social worker, clinical psychologist, genetic counselor and specialized nursing support which produces better outcomes.

“The goal of this clinic model is to support our patients living longer and receiving the highest level of quality care,” she said.

The clinic is revolutionizing how health care professionals think about diagnosing the disease and integrating a holistic approach to care in treatment plans, including participation in clinical trials. The multidisciplinary clinic is part of several major clinical research studies that patients can also join. It’s one of 34 sites in the National Institutes of Health’s ALL ALS Consortium, as well as a site for the Federal Drug and Food Administration’s ALS Natural History Consortium.

Connecting patients with answers and long-term care

Gwathmey and her team are encouraging primary care providers to think of the clinic early on to bypass unnecessary tests. The rapid access program helps patients get the answers they need, so they can urgently access the necessary clinical care.

“When a patient is diagnosed, we notify the referring physician, so they don’t forget about the program. I think that using a rapid access clinical model, such as the one we have, will hopefully continue to greatly benefit our patient community so they can access multidisciplinary care sooner,” she said.

Recognizing how her team provides so much support for a rare condition, Gwathmey hopes the rapid access program and clinic can serve as a model for other programs around the country.

“I hope other ALS programs across the country consider opening their own Rapid Access ALS Programs to help address the significant problem of diagnostic delay in ALS,” she said. “During its first 18 months in operation, our Rapid Access ALS Program improved the average diagnostic delay by two months compared to patients diagnosed in the community and directly referred to the VCU Health ALS Clinic in the same time period. This proves this model can work and should be seriously considered as a paradigm that should be adopted by other ALS clinics. Such a program requires dedication, energy, time, and resources on the part of the ALS care team and a supportive community, open to learning about ALS and how to get their patients the best care possible.”