Doctor on Call: Pompe Disease with Dr. Charles Kassardjian


Dr. Charles Kassardjian


bh IN BRIEF

Dr. Kassardjian is a neurologist with a clinical focus in the area of peripheral neurological diseases and neurophysiology, with a special interest in genetic myopathies. He is an Assistant Professor at the University of Toronto in the Department of Medicine. His research and educational interests are in the area of quality improvement and patient safety. He completed his neurology residency at the University of Toronto, and a Neuromuscular Fellowship at Mayo Clinic in Rochester, Minnesota.

A major interest is in the area of medication safety and standardization of practice for neuromuscular patients treated with immunosuppressive medications, including the impact of such medications on the risk of infections and fractures. He is interested in the way that we create and use guidelines in practice, especially when evidence is lacking, such as for patients with rare genetic myopathies. A more recent academic and research focus is in the area of virtual care adoption and optimization among medical specialists, especially as a way to improve access to specialist assessments and testing (e.g. electrophysiological testing).

Along with 2 other colleagues that have an interest in Quality Improvement, Dr. Kassardjian co-founded NQIL (the Neurology Quality and Innovation Lab) as a group to foster city-wide quality and safety projects within the Division of Neurology. An early successful collaboration was the development and publication of the “Virtual Neurologic Examination”, with accompanying videos, as a way to improve clinician proficiency with providing virtual neurological assessments both during and after the pandemic.

How does Pompe Disease affect patients on a day-to-day basis, including while at work?

Pompe disease causes progressive muscle weakness throughout the body. This has a major impact on an individual’s mobility and also their ability to carry objects and lifting their arms above their head, for example. The lungs are also an organ where the muscles are affected by Pompe disease, which leads to difficulty breathing and shortness of breath.

As you can imagine, this can impact a person’s functioning at work. If someone is in a physically demanding job, limb weakness, shortness of breath and reduced mobility are going to make things more challenging. 

Another thing to know is that the shortness of breath caused by Pompe disease is often exacerbated at night, and it affects a person’s ability to sleep which leads to sleepiness during the day. This may impact a person’s ability to concentrate and be alert during the day, so even if the person doesn't have a physically demanding job, or if they are working primarily at a desk, Pompe disease can affect their ability to be productive at work.

Unfortunately, Pompe disease is often relentlessly progressive and can lead to death, often as a result of complications related to breathing. However, there are effective treatments and therapies that can help stabilize patients over the disease course.

What are the best treatments available for patients with Pompe Disease?

Treating Pompe disease requires a multi-disciplinary team that includes neurologists, respirologists, rehabilitation physicians, physiotherapists, and occupational therapists all with the goal of supporting a patient’s strength, mobility and quality of life for as long as possible.

The pharmaceutical treatment available for Pompe disease is a type of enzyme replacement therapy (ERT). The vast majority of patients feel that ERT is beneficial. Patients are generally very positive about their experience with ERT and have reported to me improvements in general strength, endurance, and ability to complete their day without having to rest a lot. Patients also report getting better sleep, therefore they feel more rested and less winded throughout the day. Generally speaking, this treatment is not a cure but it allows for both improvement when first initiated, and a general stability across the disease course. However after being on it for a few years, in some patients the positive impacts may either plateau or start to slowly decline. Though ERT is a relatively expensive medication, the benefit to patients is that it can improve and maintain a person’s independence including their ability to work over a longer period of time.

How does the rare nature of Pompe disease impact the patient experience and how it is treated?

The fact that it’s rare means that Pompe often goes undiagnosed or underdiagnosed for longer periods of time. Most family doctors may have a hard time recognizing symptoms like muscle weakness or trouble getting up a flight of stairs as a sign of Pompe Disease, given how common these symptoms can be. And many physicians don't know a lot about the disease, so once it is diagnosed, they may not know the best place to refer patients or even the fact that there is treatment available.

The good news is that genetic testing is becoming more widely used and therefore diseases like Pompe are becoming easier and quicker to diagnose than they once were. And early diagnosis is so important because when you have a disease that is progressive like Pompe disease, diagnosis as early as possible is so important so that you can start treatment and maintain your function for as long as possible.

Some patients describe that having Pompe disease can feel really lonely. Not only is it hard for patients to get support, or have a community of patients with similar experiences, it can feel like people don’t appreciate your condition. Especially if it is early on in the disease progression, outwardly the person may not look very sick but that doesn’t mean they are not having health or medical challenges that others just aren’t seeing.

What can employers do to support someone affected by Pompe disease?

One of the most important things an employer can do is to recognize and gain appreciation for the condition, and understand what the patient is dealing with on a daily basis. Employers cannot make accommodations for their employees unless this occurs. One big consideration is the type of job, whether it is a physically demanding job versus a desk job. Physical jobs would require a gradual modification of the job to fit the employee’s capabilities, and eventually the person may not be able to perform all the functions of a physically demanding job.

Another aspect that I think is important is to support frequent breaks during the day. If a person has Pompe disease and they’re feeling fatigued and short of breath from their disease, then taking frequent breaks can be energizing and really benefit them so they are able to continue working for a full day rather than slogging through and leaving them completely wiped out by the end of the day. Something else to consider is that I find the vast majority of my patients with muscle diseases, including Pompe disease, want to work. So, if a workplace can accommodate them, and allow them to get adequate medical care, particularly for someone with a disease like Pompe that requires regular medical visits, that will allow them to maintain their independence and to work for longer. bh

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