I Was a Guinea Pig

In the 1990s, I found myself unwittingly becoming a pioneer in the quest for advancements in SMA care. As a person living with spinal muscular atrophy (SMA), the landscape of managing this condition was still in its early stages. My parents, devoted to ensuring the best possible care for me, were faced with making tough decisions about treatments and medications that were novel and untested.

Expanding knowledge of the disease

When I was diagnosed in 1983, the term spinal muscular atrophy was not even used because my doctor did not know it-and science had no idea what caused my disorder at the time. The discovery that it was an SMN gene that was the cause was made in 1995.

During medical consultations, my doctor often affectionately referred to me as a "guinea pig." This term, though unconventional, reflected the reality of our situation: we were venturing into uncharted territory.

Enrolled in clinical trials

My parents, with a blend of apprehension and hope, made the difficult decision to enroll me in early-stage clinical trials for experimental medications targeting SMA symptoms. The clinic working on these trials and studies was 6.5 hours from my home so each time I had to go for testing or treatment, we had a 13-hour round-trip drive not including the time needed at the clinic.

These trials were daunting; the potential benefits and risks were largely unknown. However, my parents, driven by the hope for better treatment options, decided to embark on this uncertain path.

They were sure that SMA would not be the end of my story but just part of it. The trials demanded unwavering patience, numerous medical consultations, and an exhaustive documentation of the effects of these experimental medications. While uncertainties loomed large, the sense of purpose to aid in advancing SMA care remained strong within our family.

Repeated painful testing

In addition to participating in clinical trials and consistently providing blood for research purposes, my young life with spinal muscular atrophy (SMA) involved undergoing electromyography (EMG) and nerve conduction studies. EMG and nerve conduction studies were intricate procedures aimed at assessing the function of my muscles and nerves. As someone living with SMA, these tests became a routine part of my healthcare regimen.

I vividly remember the apprehension surrounding these examinations and the steady support provided by my family during these appointments. These procedures played a crucial role in understanding the extent of my condition and its impact on my nervous system.

Each visit to the clinic, which happened between 3-6 months apart depending on which trial I was on, became an opportunity to gather critical information about the status of my condition. During EMG tests, thin needles were inserted into specific muscles to record their electrical activity. While the procedure was painful, it provided valuable insights into the functioning of my muscles affected by SMA.

Leftover medical trauma

Nerve conduction studies, on the other hand, involved the placement of electrodes on the skin, through which electrical impulses were sent to measure the speed and strength of nerve signals.  To this day, I cannot use TENS units to treat my pain because I have medical trauma from the testing the clinic did to me to try to help me.

My participation helped change the trajectory of treatment

While these trials and procedures were challenging, their significance in providing insights into the intricacies of SMA cannot be overstated. The knowledge gained from these tests contributed to the evolving understanding of the condition and aided in the development of tailored approaches to managing SMA which today includes three very effective treatments for SMA!

Looking back, I recognize the importance of these examinations in shaping the trajectory of my healthcare. The willingness to undergo these tests was not just a personal commitment but also a collective effort in advancing knowledge about SMA, hoping that the data collected could contribute, in some way, to improving the lives of others affected by this condition.  Because of these tests and trials, the information gathered from me and other “guinea pig” people living with SMA willing to undergo studies, was part of the development of tailored approaches to managing SMA which today includes three very effective treatments for SMA!

Reflecting on those times, I realize the weight of the decisions my parents had to make on my behalf. Their courage, resilience, and unwavering support in navigating unexplored medical paths were truly commendable. The risks they embraced and the sacrifices they made were all in the pursuit of better care and opportunities for individuals like me affected by SMA and I will forever be thankful.

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