Transforming Healthcare: Hugging Fear and Collaboration

The Terrifying Diagnosis: Pseudoxanthoma Elasticum and Its Impact on Our Family

Imagine a Christmas filled with joy and excitement for your children, but deep down, you and your spouse are carrying a heavy burden. That’s exactly how my husband and I felt during what turned out to be both the best and worst Christmas for our family.

Back in 1994, our daughter Elizabeth, only seven years old at the time, had a peculiar rash on the sides of her neck. It resembled prickly heat, but with the recent loss of my father and brother to cancer, I couldn’t help but worry. The doctors reassured us, but my instincts urged me to seek further advice. Without a referral, we visited a dermatologist, paying out-of-pocket for the consultation.

As we sat in the dermatologist’s office, just two days before Christmas, he took a quick glance at Elizabeth’s neck and uttered the words that would change our lives forever. “She has pseudoxanthoma elasticum,” he said, his tone grave. My mind spun, trying to comprehend the implications of his words. Why was he examining her eyes for a skin rash? Fear engulfed me as questions flooded my mind. What did he know about this condition? How certain was the diagnosis? What was the prognosis?

We learned that pseudoxanthoma elasticum, or PXE for short, is a rare genetic disorder. It affects the entire body, causing premature aging, loose wrinkly skin in certain areas, legal blindness similar to macular degeneration, and cardiovascular problems. The dermatologist informed us that little was known about this disease, and some individuals even succumbed to its effects in their 30s.

Our son, Ian, just five years old, was also diagnosed with PXE by the same dermatologist. The weight of the news crushed us, and we yearned to return to a sense of normalcy. However, the road ahead was filled with uncertainties and challenges we never could have anticipated.

Driven by our love for our children and a desire to make a difference, my husband Pat and I took matters into our own hands. Despite lacking any scientific background, we delved into research, devouring medical articles, textbooks, and dictionaries to understand the intricacies of PXE. Patterns began to emerge, and we soon realized there was a lack of systematic efforts to comprehend the condition. Furthermore, the scarcity of information sharing among researchers was disheartening.

Motivated to bridge this gap, we founded PXE International, a nonprofit organization dedicated to initiating and conducting research on PXE while providing support for individuals affected by the disease. Through traditional media, we rallied a global community of around 100-150 people, urging them to contribute their blood, tissue, medical histories, and records. We established a shared resource, recognizing the power of collaboration and the importance of sharing results with those who generously contributed.

But our efforts didn’t stop there. Realizing the need for hands-on scientific research, we secured bench space at a Harvard lab and immersed ourselves in the world of hardcore bench science. With the support of a compassionate neighbor who cared for our children while we worked late nights, we extracted DNA, ran gels, and tirelessly searched for the gene responsible for PXE. In a few years, we triumphantly found the gene, patented it to ensure widespread availability, and developed a diagnostic test.

Expanding our reach, we formed a research consortium, held meetings, and established a center of excellence. We connected with over 4,000 individuals worldwide affected by PXE, conducting clinical trials and studies to advance our understanding of the disease. Yet, fear remained a constant companion throughout this journey, reminding us of the urgency to find solutions while time ticked away.

Along the way, we revealed two profound secrets within the healthcare system. First, ready answers were scarce for people like our children and countless others grappling with both common and rare conditions. Second, the power to sort out these mysteries lay within all of us, through the contribution of our data, biological samples, and ultimately ourselves.

Recognizing the need for change, my husband and I joined forces with Genetic Alliance, a network of health advocacy, patient advocacy, research, and health organizations. Together, we built scalable resources such as biobanks, registries, and support directories for various diseases, striving to make a difference beyond PXE.

We discovered that transforming the healthcare landscape required breaking down boundaries and hugging a new approach. Frustrated by the reluctance of entities to share vital data, we questioned our own ability to share and collaborate. It was a moment of introspection, realizing that true progress could only be achieved by fostering a culture of open ideas and mutual support. We challenged clinicians, researchers, and administrators to take risks and prioritize the well-being of individuals at the center of their work.

Undeniably, the path to discovery and development of interventions and therapies is arduous. The complexities of science, regulatory hurdles, and competing interests often hinder progress. Nevertheless, I believe that by recognizing the power of collaboration and the depth of our love for others, we can forge a new way forward.

Our journey with PXE has taught us that fear can serve as an invitation, not a warning. Within fear lies the immense capacity for love and the potential to overcome challenges we never thought possible. As we continue to navigate the realm of healthcare, let us hug our fears, dissolve barriers, and harness the collective power of individuals and organizations. Together, there is no limit to what we can accomplish.

Today, our children, now in their late twenties, have taught us an invaluable lesson. They urged us to stop fixating on making a difference and instead learn to live with the disease, hugging it as part of our lives. Their toughness and happiness, despite the manifestations of PXE, inspire us every day.

So, I invite you to join us on this transformative journey. Turn toward your fears, discover the boundless love within yourself and others, and step into the shoes of those who both frighten and fear you. By caring vulnerability and fostering collaborative relationships, we can unlock our full potential as agents of change. Let us realize that working on our inner selves is intertwined with our outer work, propelling us toward real solutions and tangible progress.

The time for change is now. Together, we can make a difference.

Taking Control: From Helplessness to Giving power in the Face of Rare Disease

Imagine experiencing the best and worst Christmas simultaneously. That’s exactly what happened to our family when my husband and I realized the magnitude of the challenges we were about to face. Our children, Elizabeth, age seven, and Ian, age five, were ecstatic about the gifts they received. Little did they know that Santa’s generosity was driven by a knowledge my husband Pat and I had recently acquired, a knowledge that filled us with terror.

It was the year 1994, but the story began a few years earlier. I had noticed a rash on the sides of Elizabeth’s neck, resembling prickly heat. Considering the heartbreaking loss of both my father and brother to cancer during that time, I couldn’t help but be overly concerned about any signs of illness. The doctors tried to reassure us that there was nothing to worry about, but deep down, I remained unconvinced.

Driven by my motherly instincts, I decided to take matters into my own hands. Without a referral, we visited a dermatologist and paid out-of-pocket for the consultation. Two days before Christmas, in the dimly lit examination room, the dermatologist took a quick glance at Elizabeth’s neck and dropped a bombshell that shattered our world. “She has pseudoxanthoma elasticum,” he stated gravely, before inspecting her eyes for further signs.

Confusion, fear, and a torrent of questions overwhelmed us. Why was he examining her eyes for a skin rash? What did he truly know about this condition? How could he be certain? What was the prognosis? As a pastoral counselor, I quickly realized that my training had not prepared me for this moment.

Dr. Bercovitch, the dermatologist, did his best to enlighten us about pseudoxanthoma elasticum (PXE). It’s a rare genetic disorder that affects the entire body, causing premature aging, wrinkly skin in certain areas, vision impairment similar to macular degeneration, and a range of cardiovascular problems. Little was known about the disease at the time, and the prognosis was bleak, with some reports suggesting that individuals with PXE might not live past their thirties.

The shock of Elizabeth’s diagnosis hit us like a ton of bricks, but the devastating news didn’t end there. Dr. Bercovitch casually glanced at our son, Ian, and delivered another blow, “He has it too.” Our hearts sank, and the weight of the situation bore down on us. All we wanted was to return to a sense of normalcy, but it seemed impossible in the face of such adversity.

Motivated by love for our children and a desire to make a difference, Pat and I embarked on an incredible journey of discovery. Despite our lack of scientific background, we dove headfirst into the realm of research, devouring medical articles, scientific textbooks, and even medical dictionaries in an attempt to comprehend the intricacies of PXE.

As we delved deeper into our research, we realized the lack of systematic efforts to understand PXE and the dearth of information sharing among researchers. This realization sparked a fire within us. We founded PXE International, a nonprofit organization dedicated to driving research initiatives, supporting individuals affected by PXE, and advocating for increased collaboration.

Through traditional media channels, we reached out to a global community of individuals willing to contribute their blood, tissue, medical histories, and records. This shared resource became the cornerstone of our efforts, emphasizing the importance of collaboration and the sharing of results among researchers and those who generously donated their resources.

However, our journey didn’t stop at resource gathering. Recognizing the need for hands-on scientific research, we secured bench space at a renowned lab in Harvard. With the support of a kind neighbor who looked after our children, Pat and I immersed ourselves in the world of hardcore bench science. We extracted DNA, ran gels, and tirelessly searched for the elusive gene responsible for PXE.

Against all odds, we triumphed. We discovered the gene, patented it to ensure accessibility, and developed a diagnostic test. Our efforts didn’t end there. We formed a research consortium, organized meetings, and established a center of excellence. Through our collective efforts, we connected with over 4,000 people worldwide affected by PXE, conducting clinical trials and studies to deepen our understanding of the disease.

Throughout this journey, fear loomed large. Fear of the disease’s progression, fear of the unknown, and fear of the highly credentialed researchers within a system that rewarded competition rather than collaboration. But amidst the fear, our drive to make a difference prevailed.

In the face of adversity, we realized that our experiences with PXE were not unique. We joined forces with Genetic Alliance, an alliance of health advocacy, patient advocacy, research, and health organizations. Together, we sought to create scalable resources such as biobanks, registries, and directories of support for various diseases.

It became clear that the healthcare system needed a transformation. Ready answers were scarce for individuals facing both common and rare conditions, and the true solutions lay within the collective power of people. We challenged the status quo and advocated for a culture of open sharing, recognizing that collaboration and mutual support were the keys to unlocking progress.

It hasn’t been an easy journey. The scientific complexities, regulatory challenges, and competing interests have posed formidable obstacles. Nevertheless, we remain resolute in our belief that a people-centered approach, fueled by love and collaboration, can transform the healthcare landscape.

Our story is not unique, and the lessons we’ve learned extend beyond PXE. It’s a call to action, urging us all to hug our fears, dissolve barriers, and harness the collective power of individuals and organizations. By caring vulnerability and fostering collaborative relationships, we can create real change and tangible progress.

Together, there is no limit to what we can accomplish. Let us seize the opportunity to transform healthcare, one step at a time.

Breaking Barriers: Overcoming Challenges in Biomedical Research and Advocacy

Imagine being faced with a rare disease, surrounded by a healthcare system that feels indifferent and unyielding. That’s the reality my family and I encountered when our lives were forever changed by pseudoxanthoma elasticum (PXE), a rare genetic disorder. As we navigated the daunting world of biomedical research and advocacy, we encountered barriers that seemed insurmountable. Yet, fueled by love and determination, we forged a path forward, breaking through those barriers one by one.

Our journey began with a rash on our daughter Elizabeth’s neck, sparking concerns amidst the painful loss of loved ones to cancer. The doctors’ reassurances did little to ease our worry, and we sought answers outside the conventional medical realm. Without a referral, we visited a dermatologist who delivered the terrifying diagnosis of PXE. This rare condition, characterized by premature aging, wrinkly skin, vision impairment, and cardiovascular problems, left us grasping for information and support.

In the early days, we discovered a lack of understanding and cooperation within the biomedical research community. Researchers worked in silos, guarding their knowledge and resources. We encountered a system that rewarded competition instead of collaboration, hindering progress and perpetuating the suffering of those affected by rare diseases like PXE.

Determined to break this pattern, my husband Pat and I established PXE International, a nonprofit organization dedicated to catalyzing research, supporting individuals with PXE, and promoting collaboration among researchers. We realized that we couldn’t rely solely on traditional approaches, so we sought to unite a global community of individuals impacted by PXE. Through our collective voices and experiences, we aimed to create a shared resource, a platform for open dialogue and cooperation.

However, we quickly realized that our shared resource alone would not be enough to drive the change we sought. We recognized the importance of conducting rigorous bench science, diving into the depths of research to reveal the mysteries of PXE. Borrowing bench space at Harvard, we worked tirelessly, extracting DNA, running gels, and painstakingly searching for the gene responsible for PXE.

The journey was not without its challenges. As individuals with no scientific background, we faced skepticism and doubts. Yet, with the support of generous postdocs and our unwavering determination, we defied expectations and achieved significant milestones. We discovered the PXE gene, ensuring that it would be freely available, and developed a diagnostic test to aid in early detection.

Our accomplishments were only the beginning. Recognizing the power of collaboration and the need for systemic change, we established a research consortium and held meetings that brought together researchers, clinicians, and individuals affected by PXE from around the world. We opened a center of excellence, fostering an environment of knowledge sharing and support. Our efforts went beyond research; we conducted clinical trials and studies, working towards practical solutions to improve the lives of those living with PXE.

Throughout this transformative journey, fear lingered, whispering doubts in our ears. Fear of the disease’s relentless progression, fear of the unknown, and fear that we were making the wrong choices. However, we discovered that fear could be a catalyst for change, a reminder of our unwavering love for our children and for all those affected by PXE.

In our pursuit of progress, we also recognized the need for a paradigm shift within the healthcare system. We joined forces with Genetic Alliance, a network of organizations dedicated to advancing health advocacy and patient-centered research. Together, we championed the idea that people should be partners in research, challenging the notion of researchers as the sole gatekeepers of knowledge.

We understood that true change required us to examine our own practices and beliefs. We confronted the inherent biases and misaligned incentives within the system, seeking to create a culture that valued collaboration, empathy, and the sharing of ideas. We believed that by hugging vulnerability and taking risks, we could bridge the gaps that had hindered progress for far too long.

The road ahead was not easy, but with each step, we gained momentum. We discovered the power of grassroots movements, citizen scientists, and the impact of collective action. Even renowned figures like President Obama and Vice President Biden rallied behind the notion that research should be a partnership between scientists and the people they serve.

As I reflect on our journey, I am filled with gratitude for the fellow journeyers who supported us along the way. Their unwavering dedication and belief in our mission propelled us forward. Together, we shattered barriers, challenged the status quo, and ignited a spark of hope within the biomedical research and advocacy communities.

Today, I invite you to join us in this transformative movement. Let us turn towards our fears, hug the unknown, and work together to overcome the challenges that lie before us. By infusing the healthcare system with compassion, collaboration, and a shared sense of purpose, we can create a future where no one faces the daunting journey of rare diseases alone. Together, we can break down barriers, enable one another, and bring about meaningful change.

Hugging Fear and Love: Transforming Healthcare through Shared Data and Collaborative Efforts

Imagine a world where fear is not an obstacle, but an invitation to dive deeper into the realms of love and collaboration. That’s the world my family and I discovered as we embarked on a journey to transform healthcare and make a difference in the lives of those facing rare diseases. Our path was filled with challenges, but through shared data and collaborative efforts, we found a way to create lasting impact.

It all started with the diagnosis of pseudoxanthoma elasticum (PXE) in our daughter Elizabeth and later in our son Ian. The news struck fear into our hearts, as we grappled with the uncertainties of a rare genetic disorder. Questions flooded our minds: How would this affect their lives? What did the future hold? It was a time of profound vulnerability, but it also sparked a fire within us to take action.

One of the first barriers we encountered was the lack of information and collaboration within the biomedical research community. Researchers seemed to operate in isolation, guarding their knowledge instead of sharing it for the benefit of all. This realization fueled our determination to change the system and promote a culture of open collaboration.

With the founding of PXE International, we aimed to bridge the gaps and build a community that shared resources, knowledge, and support. Through traditional media channels, we reached out to individuals worldwide who were impacted by PXE, asking them to contribute their blood, tissue, medical histories, and records. This shared resource became the foundation of our collaborative efforts, a testament to the power of coming together.

However, we soon discovered that simply creating a shared resource was not enough. We needed to go beyond the confines of traditional research and dive into the world of hardcore bench science. Armed with determination and an unwavering belief in our cause, we borrowed bench space at Harvard and immersed ourselves in the pursuit of answers.

Late nights spent extracting DNA, running gels, and searching for the elusive gene responsible for PXE became our new reality. Despite our lack of scientific background, we found ourselves tutored by generous postdocs who believed in our mission. And then, after years of dedication and perseverance, we had a breakthrough. We discovered the gene, patented it to ensure accessibility, and developed a diagnostic test that could change lives.

Our achievements did not stop there. We established a research consortium, bringing together experts from around the world to collaborate and share findings. We held meetings, conducted clinical trials, and opened a center of excellence. Our efforts were not just about PXE; they were about creating a model for change that could be applied to other diseases as well.

Through it all, fear was a constant companion. Fear of the disease’s progression, fear of making the wrong choices, and fear that we were not doing enough. Yet, in the face of fear, we discovered an unyielding well of love within ourselves and those we met along the way. Our love for our children, for individuals affected by PXE, and for humanity as a whole fueled our determination to make a difference.

We realized that hugging fear was not a sign of weakness, but an opportunity for growth. It opened our hearts to the enormity of our love and pushed us to take risks that we never thought possible. It propelled us to challenge the existing systems and strive for a healthcare landscape that put people at the center.

As we shared our experiences and knowledge, we witnessed a groundswell of individuals who believed in the power of collaboration and shared data. Citizen scientists, activists, and everyday people joined the movement, challenging the status quo and demanding a more inclusive and compassionate approach to healthcare.

Our journey taught us that transforming healthcare requires a shift in mindset. It necessitates recognizing that our inner lives are intricately connected to our outer work. It calls for dismantling the barriers that separate us and hugging the power of collective action.

So, I invite you to hug your fears, for within them lies the path to love and transformation. Let us come together, share our data, and collaborate to unlock solutions that can change lives. By fostering a culture of openness, empathy, and collaboration, we can create a future where healthcare is truly centered around the well-being of individuals and communities.

Together, let’s rewrite the narrative of healthcare and build a world where fear and love drive us to achieve the extraordinary.

Conclusion

In the face of adversity, we have learned that true change begins with hugging our fears and channeling them into acts of love and collaboration. Our journey in the realm of rare diseases, specifically pseudoxanthoma elasticum (PXE), has taught us the transformative power of shared data, open dialogue, and collective efforts.

Through our experiences, we have witnessed the barriers that hinder progress within the biomedical research and advocacy communities. We have seen the consequences of a system that prioritizes competition over collaboration, and the devastating impact it has on individuals and families facing rare diseases.

But we have also seen the incredible strength that emerges when we unite in a common purpose. By coming together, sharing resources, and supporting one another, we have been able to make significant strides in understanding and combating PXE. We have discovered the immense potential of citizen scientists, activists, and everyday individuals who are passionate about driving change.

Our journey has shown us that transforming healthcare requires a shift in mindset. It demands that we recognize the value of collaboration, the power of shared knowledge, and the importance of putting people at the center of our efforts. It requires us to challenge the existing systems, hug vulnerability, and take risks in the pursuit of a better future.

As we conclude this chapter of our story, we invite you to join us in this movement. Hug your fears, for they can lead you to the wellspring of love within. Share your experiences, your data, and your voice to effect change. Together, let us rewrite the narrative of healthcare, creating a world where no one faces the journey of rare diseases alone.

In this world, compassion, empathy, and collaboration will be the driving forces behind research, advocacy, and patient care. By working together, we can break down barriers, overcome challenges, and bring about meaningful progress. Our collective power knows no bounds, and with each step forward, we inch closer to a future where healthcare is truly transformative, inclusive, and compassionate.

Let us embark on this journey together, enabled by the lessons of our past and fueled by the boundless potential of our shared humanity. The time for change is now, and our united efforts will shape a healthcare landscape that leaves no one behind.