By Chris Anselmo — 03/19/2014
Whereas yesterday’s sessions dealt with diagnostic strategies and disease management, today’s sessions were much more patient-focused. As a patient myself, I found these presentations and panels to be of great interest heading into the day. Looking at the agenda ahead of time, I was particularly interested in the panel discussions on the ethical issues present in genetic testing, and palliative and end of life care.
In these panel discussions, the audience was introduced to two brave mothers who each had to deal with the tragic loss of their beloved sons. Each child was diagnosed with Spinal Muscular Atrophy, and lived to be only a few months old. Their stories were the catalyst for discussions related to ethical issues related to pre-natal screening, genetic testing, and the ramifications of learning about their child’s prognosis. From this devastating diagnosis came many decisions related to end of life care that were unfathomably heartbreaking.
To hear about the short lives of Fletcher and Owen, two of the cutest babies imaginable, was a sobering reminder of the human impact that muscle disease can have on patients and families. Many in the audience were in tears by the end, and it was hard not to be. The bravery that these two women, Sara Krider and Dorothy Shuler, exhibited during these discussions was remarkable. I can’t imagine what it would be like to tell the story of your child, their devastating diagnosis, and having to say goodbye so soon.
I am thankful for their attendance at the conference, as they helped to foster a dialogue with the clinicians that will lead to improved care for other families throughout the country. Their struggles, and the issues they had to grapple with, are very real, and very difficult. Unfortunately they are also representative of many others in a similar situation. These issues that were raised – the limitations of prenatal screening and genetic counseling, along with the decisions that had to be made during the final days of their sons’ lives, is something you wouldn’t wish on your worst enemies.
I do want to briefly mention the other sessions I attended throughout the day, as they were very informative and interesting as well. The late afternoon sessions dealt with quality of life, delving into issues regarding behavioral and emotional health of patients with neuromuscular diseases. I found these sessions to be especially enlightening and productive, as I think that emotional well-being often gets overlooked. It is easy to see and treat physical symptoms, but the emotional symptoms can be just as painful and debilitating. Danielle Sheypuk did a great job in shedding light on these issues, and raising the difficulties that patients with neuromuscular diseases face in trying to date and maintain their self-esteem while looking for a partner.
However, even during these sessions, my mind kept wandering back to the morning discussions. I am hesitant to say that they did not disappoint, because that would indicate that I left with some degree of satisfaction. Just the opposite, in fact. I, along with everyone who is a stakeholder in any way with muscle disease, cannot be satisfied until no more mothers have to present at conferences like this one. The Fletchers and Owens of the world deserve a full life. We cannot rest until they do.