Sanfilippo Syndrome

Join the Conversation on
Sanfilippo Syndrome
164 people
0 stories
44 posts
About Sanfilippo Syndrome
Explore Our Newsletters
What's New in Sanfilippo Syndrome

Sanfilippo Syndrome and the Ethical Dilemma of Acceptable Risks in Pursuit of Treatment

Sanfilippo Syndrome, a rare and devastating genetic disorder, poses an immense challenge for affected families. This neurodegenerative condition gradually robs children of their abilities, leading to severe cognitive decline, behavioral issues, and ultimately a shortened lifespan. For families navigating this harrowing journey, the concept of a ‘baseline’ risk becomes a critical element in their pursuit of potential treatments and therapies.

The ‘baseline’ risk refers to the natural trajectory of the disease in the absence of any experimental or investigational interventions. Families affected by Sanfilippo Syndrome are intimately familiar with this baseline; it’s the harsh reality they face daily, witnessing the decline in their children’s health and capabilities. In the absence of a cure or effective treatment, this baseline represents an unavoidable and deeply distressing outcome.

The pressing need to discover a solution compels affected families to diligently comprehend and assess all risks linked to experimental treatments or clinical trials. Their unwavering determination to delve into potential treatments, despite the uncertain outcomes or inherent dangers, is rooted in a profound yearning to disrupt the established and devastating baseline—a trajectory that tragically culminates in the pronounced decline and eventual loss of their beloved family members after enduring years of anguish and suffering.

However, the decision to assume these risks isn’t taken lightly. Families meticulously evaluate potential treatments, considering the balance between potential benefits and potential harm. They weigh the promise of a treatment against the uncertainties and potential side effects, often consulting medical professionals and researchers extensively before making a decision. Their choice to embrace risks is driven by a profound sense of responsibility and love for their affected family members.

Yet, amid this pursuit, the question of who should have the final voice in decisions regarding acceptable risk arises. Those without direct involvement or ‘skin in the game’—individuals who aren’t personally affected by Sanfilippo Syndrome—may offer valuable perspectives. Still, it’s crucial to recognize the inherent difference in stakes. Families directly impacted bear the weight of the outcomes, making their voices indispensable in discussions about acceptable risks and potential treatments.

Acceptable risk, in this context, becomes a deeply personal and subjective matter. Families, in consultation with medical experts, navigate a complex ethical landscape, considering the individual needs of their affected loved ones, their hopes for improvement, and the potential risks involved. What might be an acceptable risk for one family might not align with another’s thresholds, highlighting the nuanced nature of these decisions.

In conclusion, the pursuit of treatments for Sanfilippo Syndrome involves grappling with the harsh reality of the baseline risk while navigating the ethical complexities of acceptable risks in search of hope. The primary voices in determining acceptable risks rightfully belong to the families directly impacted by the disease. Their intimate understanding, unwavering love, and relentless pursuit of a better future for their affected members underscore the profound significance of their role in making these critical decisions.


Fight or Flight

“It’s ok, Jen; we’ll figure out what we need to do to make sure this disease doesn’t affect him. This will not define who he is!”

As my eyes slowly open to the morning sunlight, I hear my husband’s voice saying that repeatedly. As I come to, I realize it is one of my few reoccurring dreams. Today’s dream was Carter’s pancreatic diagnosis day. I still remember every detail of what we were wearing and every emotion Samir {my husband} and I were feeling while looking at C-Money peacefully sleeping on his hospital bed.

I immediately snap back to reality, and without even thinking, my hand goes over to Carter’s tummy to make sure he is breathing. Merely a second goes by, and because I am not feeling his tummy rise, my mind starts racing into a dark area that would give most people nightmares. I begin to panic and rush to sit up next to him. Finally, I feel him breathe in; I can now take a deep breath too. Even though the last ten seconds felt like a lifetime, I have to remind myself it’s only been a few seconds and tell myself, breathe, Jen, breathe. For most, a moment like this would be something they would remember and look back on for days, if not years, to come. For me, this is my morning routine.

I wake up, process whatever dream I have woken up to, and immediately look over and check on Carter, my ten-year-old son. Unfortunately,  Carter has a lot of health issues. He has chronic pancreatitis, Sanfilippo syndrome, portal vein thrombosis, and many other things that come with those diseases. As cliche as it sounds, Carter fights for his life every day.

Carter’s pancreatitis causes him pain every day, and his portal vein thrombosis could cause an internal bleed at any time. If that wasn’t enough, his Sanfilippo syndrome has no cure or treatment option. It causes developmental delay and behavioral issues and is a degenerative disease. It will take every skill he currently has, from talking, walking, and eating by mouth; he will develop more substantial seizures than he already has, and sadly, my son will probably not make it to adulthood.

We have lived in the hospital for weeks on end. I have seen my son knock on death’s door, look inside, then turn around and say not today, thank you. He has gone through so much in his short ten years, more than most people experience in a lifetime. Yet, he wakes up every day ready to take on his next challenge. I, on the other hand, I am not as strong as my son.

People tell me that I am strong, that they couldn’t do what I do, and all the other things they think might be a complement to a parent of a child with a disability. Do you want to know a secret? The reason why I can do all the things I do is because I am in a constant state of fight-or-flight. My body and mind think I must fight daily to survive, and it’s not something I think will ever go away.

Being a parent to a medically complex kiddo, I can tell you we are in this constant state of fear. It is fueled by anxiety, a dash of depression, and of course, PTSD. I wake up every day wondering if last night was the last time I would kiss my son to sleep. If yesterday was the last time I heard him laugh or chase him while he ran laps around the house. It’s a vicious cycle; I fall asleep to the sweet sound of him breathing, only to be woken up again the following day, fearful that I may not feel that deep breath taken in, and I am always just trying to catch my breath.

1 comment