studying rare diseases
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For many Americans with rare diseases, they live in a far-off town at the boundaries of a city’s edge. Towns where few families live, and where most likely those same families are the ones they’ve known their whole life. There’s only a handful of doctors caring for the town’s populace, and chances are, there isn’t another clinic or medical center nearby. They are treated by the best options they have locally without having to travel hours or even days, lugging their life-sustaining equipment, or needing a team of caregivers to help them get from point A to point B.

So, these patients are dependent to a large degree on their local  general practitioner. Odds are, however, that doctor doesn’t know very much about their rare disease; in fact, they’re lucky if the doctor has even heard of it. Nonetheless, they see their generalist regularly, seeking an ear with enough knowledge to help them manage their basic health care needs. 

Bigger Cities, More Options for Care

Or in my case, you live in Hialeah, one of the largest cities in Florida. A city that’s rife with doctors far and wide, many of whom serve diverse communities. Oftentimes, these doctors never treated rare conditions in their original practice. It is an honorable pursuit that I admire, especially since my doctor shares this backstory. I’ve been seeing him for years, and he has provided nothing short of his best attention and services for me in my time there. 


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Yet, certain realities exist. My registered condition at the clinic is chosen from a drop-down menu. It reads “congenital muscular dystrophy,” or CMD, that  serves reasonably well as the umbrella term for a multitude of neuromuscular diseases, but falls well short of describing my condition — Spinal Muscular Atrophy (SMA). Each neuromuscular disease has its plethora of nuances and characteristics that make it distinct in its own way, and therefore requires its own specialized care.

My doctor, to no fault of his own, complies with this system implemented by the clinic that serves thousands in the community. It’s simple, straightforward, but flawed. It would be a boon for the rare disease community if our very own hardworking and dedicated general practitioners had access to information about our conditions, so that they may improve our quality of life. 

This is the case for thousands of us living with a rare disease. As though having a complex condition wasn’t challenging enough, we also have to find ways to manage our care in the best way possible given our nearest resources. Frequently, our plan of care starts with the general practitioner. They are the very building blocks of our multidisciplinary teams that gather their collective efforts together for the best plan of care. Yet, when general practitioners are faced with an unknown illness or disease, it can make the rest of our medical future and wellbeing  uncertain. 

It doesn’t have to be this way. It is my belief this dilemma can be remedied. I encourage all medical professionals, especially general practitioners, if you are faced with a patient who has a rare disease, please research their specific ailment. Whether it be through accessing databases with information about said conditions or just doing a simple google search, it is vitally important  health care providers take the time to educate themselves on the matter. 

In the outpatient setting, the overriding  struggle is the lack of time. Generalists in these outpatient settings have less time to care for patients than they would in critical care settings and frequently, doctors are obligated to cram an hour’s worth of time on one patient into a few  minutes. The lack of health coverage, especially in underprivileged communities, adds to the inevitable burden of meeting demands.

Needless to say, the task of being informed on rare diseases, which may not come up at all on a day-to-day basis in these settings, is difficult but necessary. Let me explain why. 

General practitioners are usually the first point of contact when pursuing care for a physical or mental problem. They serve a wide variety of needs, catering to the entire person, essential to the overall care of a patient. Then, based on their assessment of patient needs and medical history, their duty is to develop a course of action or ongoing management plan. They are crucial to the multidisciplinary care approach, as oftentimes a referral is necessary to see a specialist. Together, the team can coordinate an integrative approach to the patient’s wellbeing.

Furthermore, a general practitioner is instrumental in preventative care. As they are responsible for treating anything from your everyday headache, to yearly laboratories, to long-term treatment, general practitioners play a vital role in the lifelong relationship between the patient and their health. The clinician helps prevent other issues developing in the client’s life by providing adequate medical intervention. 

All of these essential functions are what a general practitioner does on a daily basis. And yet, the effectiveness of these techniques fall short when faced with unawareness of rare diseases.

Inclusion, Education Key to Best Care

Let us enhance care for everyone through inclusion and education. Access those databases and scholarly journals whenever able for that patient of yours with the perhaps little known condition. It will enhance their quality of life and will greatly benefit their health.

Beyond all the bureaucratic red tape and insurance policies that only place more obstacles on medical care still lies the humanity of caring for one another. By including those with rare diseases, you help integrate an already marginalized demographic by providing comprehensive care and support. 

Take for example, my journey toward starting Spinraza, the first FDA approved treatment for SMA. Starting the process required visiting my generalist so that he could give me a referral to see a neurologist. When I told him about Spinraza, he did not know what the medicine did or how it would help. Admittedly, though the drug was novel in its field, if my doctor would have been more informed about SMA, then he would’ve undoubtedly known about Spinraza as soon as it premiered. Having knowledge of the situation at that time would have expedited the already laborious process of getting the drug prescribed. Having familiarization with SMA and therefore the groundbreaking release of Spinraza, would have consequently allowed him to refer me to the appropriate neurologist. 

Nonetheless, I love my general practitioner. In the several years I’ve been in his care, just a few blocks away from my house, and conveniently located in a shopping plaza at my reach,whenever I need him, I’m given excellent care. Compassionate and dedicated service. It would only boost our relationship between provider and patient if he knew a little more about SMA rather than the general overarching facts about neuromuscular disease. The change starts with you. Let us move forward together to make care beneficial to all.