Health and Wellness

Hugging Vulnerability: A Journey of Transformation

By Zoe Simmons | Published on 2023-05-16

The Best and Worst Christmas: A Life-Altering Diagnosis

The year was 1994, and the holiday season was in full swing. Little did my husband and I know that this Christmas would be etched in our memories as both the best and the worst. Our children, Elizabeth and Ian, were just seven and five years old, eagerly anticipating a Christmas filled with everything they had ever wanted. They couldn’t comprehend the reason behind Santa’s generosity, a reason that sent shivers down our spines.

A few years prior, I had noticed a peculiar rash on Elizabeth’s neck, resembling prickly heat. As my father and brother had recently lost their lives to cancer, I couldn’t help but be overly anxious about her health. Despite the doctors’ reassurances that nothing was wrong, my intuition told me otherwise. Determined to find answers, I took Elizabeth to a dermatologist, even without a referral and paying out-of-pocket.

It was two days before Christmas when we visited the dermatologist. After a quick examination of Elizabeth’s neck, he uttered the words that sent me into a state of panic: “She has pseudoxanthoma elasticum.” My mind raced with questions, mixing fear and confusion. Why was he looking into her eyes for a skin rash? How could he be so certain? What was the prognosis? My background in pastoral counseling had not prepared me for this moment.

Dr. Bercovitch proceeded to explain everything he knew about PXE, a rare genetic disorder that caused premature aging and a range of health problems. Loose, wrinkly skin in certain areas, legal blindness, and cardiovascular issues were just some of the effects. Little was known about this disease, and some individuals didn’t even make it past their thirties. And then, he glanced at our son and delivered another blow: “He has it too.”

The news hit us like a tidal wave. We longed to retreat to a sense of normalcy, but our lives had been forever altered. Just two days after Christmas, researchers arrived, eager to take blood samples from us and our children for a research project aimed at finding the gene responsible. Shortly after, another group of researchers came from New York, requesting more blood samples. The lack of sharing among researchers became painfully evident to us, and it lit a fire within my husband and me.

We immersed ourselves in learning everything we could about PXE. Despite our lack of scientific background, we devoured medical articles, consulted dictionaries, and scientific textbooks. It quickly became apparent that there was no systematic effort to understand PXE, and the lack of collaboration and sharing among researchers was pervasive. Fueled by our determination, we founded PXE International, a non-profit organization dedicated to research, support, and advocacy for PXE patients.

Our journey was not without challenges. Our limited scientific background presented a significant barrier, as did the prevailing culture of non-sharing in the research community. But we pressed on, collecting blood samples and medical histories, and requiring scientists to share their findings. We established partnerships, conducted research, and made significant strides in understanding PXE.

Through this arduous process, we lived with fear—the fear of the disease’s progression, the fear of researchers, and the fear of making wrong choices. But amidst the fear, our love for our children and the PXE community served as a bedrock of strength. It propelled us forward, and we discovered that fear was not a warning, but an invitation to go further and discover the boundless capacity for love within ourselves and others.

Today, our children, now in their late twenties, remind us to hug living with the disease rather than constantly fighting it. They are happy and healthy, despite the visible manifestations of PXE. This journey has taught us that

Pseudoxanthoma Elasticum (PXE): A Rare Genetic Disorder

Imagine a seemingly ordinary Christmas, filled with joy and anticipation. Yet, within the hearts of my husband and me, a deep concern weighed heavily. It was the year 1994 when our children, Elizabeth and Ian, were gifted everything they had ever wished for. Little did they know, Santa’s generosity was driven by a secret we had just discovered—a secret that terrified us beyond words.

For a couple of years, I had noticed a peculiar rash on Elizabeth’s neck, resembling prickly heat. However, it appeared only on the sides of her neck, which puzzled me. Given the recent loss of my father and brother to cancer, I couldn’t help but worry about her health. Despite the doctors’ reassurances that everything was fine, my instincts urged me to seek further answers.

Without a referral and paying out-of-pocket, I took Elizabeth to a dermatologist just days before Christmas. As he examined her neck, a sense of unease settled over me. Then, he uttered the words that changed our lives forever: “She has pseudoxanthoma elasticum.” This rare genetic disorder, often referred to as PXE, caused a myriad of health issues, including loose and wrinkly skin in certain areas, legal blindness, and cardiovascular problems.

In that moment, a flood of questions and fears surged through my mind. How could this diagnosis be certain? What did it mean for Elizabeth’s future? And to our dismay, the dermatologist turned his gaze toward our son and declared, “He has it too.”

This revelation sent shockwaves through our family. We yearned for a return to normalcy, but the reality of PXE loomed over us. Researchers soon arrived, eager to collect blood samples from our children as part of their quest to find the responsible gene. However, the lack of collaboration among researchers became glaringly evident as separate groups from different institutions sought their own samples.

Driven by a desire for change, my husband and I immersed ourselves in understanding PXE. Despite our lack of scientific backgrounds, we delved into medical articles, consulted dictionaries, and scoured scientific textbooks. What we discovered was disheartening—a lack of systematic efforts to comprehend PXE and a prevailing culture of non-sharing among researchers.

With an unwavering determination, we founded PXE International, a non-profit organization dedicated to research, support, and advocacy for individuals with PXE. We recognized that our limited scientific backgrounds presented a significant barrier, but we refused to be deterred. Gathering blood samples, medical histories, and collaborating with scientists became our mission. We believed in the power of shared knowledge and required that all researchers involved in our resources would actively share their findings.

Throughout this challenging journey, fear became a constant companion. Fear of the disease’s progression, fear of navigating the complex scientific landscape, and fear of making the wrong choices haunted us. But beneath the fear, our love for our children and the PXE community provided an unyielding foundation. It propelled us forward, allowing us to tap into the depths of compassion and discover a boundless capacity for love within ourselves and others.

Today, as our children have grown into adulthood, they remind us of the importance of hugging life with PXE rather than constantly fighting against it. They exhibit happiness and good health, defying the limitations imposed by the disease. This remarkable journey has taught us that even in the face of rare genetic disorders like PXE, love, toughness, and the power of collective knowledge can pave the way for a brighter future.

The Journey of Self-Education: From Desperation to Determination

A few years prior, I had noticed a peculiar rash on Elizabeth’s neck, resembling prickly heat. However, it appeared only on the sides of her neck, which puzzled me. Given the recent loss of my father and brother to cancer, I couldn’t help but worry about her health. Despite the doctors’ reassurances that nothing was wrong, my intuition told me otherwise. Determined to find answers, I took Elizabeth to a dermatologist, even without a referral and paying out-of-pocket.

Today, our children, now in their late twenties, remind us to hug living with the disease rather than constantly fighting it. They are happy and healthy

Creating PXE International: Enabling Individuals to Take Charge

In the wake of our children’s diagnosis with pseudoxanthoma elasticum (PXE), my husband and I were filled with a burning desire to make a difference. We realized that if we wanted to find solutions for our family and others facing this rare genetic disorder, we would have to take matters into our own hands.

There were two major barriers standing in our way. First, neither my husband nor I had a background in science. At the time, he worked as a manager in a construction company, and I was a former college chaplain turned stay-at-home mom. We were far from the ideal candidates to take on the research world by storm. Second, we discovered a pervasive lack of sharing among researchers. It seemed as though the system was designed to reward competition rather than collaboration, hindering progress in finding treatments or a cure.

Undeterred by these challenges, we embarked on a journey of self-education and advocacy. We devoured every piece of literature we could find on PXE, even if we didn’t fully understand all the scientific jargon. Medical dictionaries and scientific textbooks became our constant companions as we delved into the intricacies of the disease.

Although we struggled to comprehend the complex scientific concepts, patterns began to emerge, lighting up the gaps in PXE research. It became clear to us that there was no systematic effort to understand and address the condition. Motivated by this realization, we founded PXE International, a non-profit organization dedicated to initiating research, conducting studies, and providing support for individuals affected by PXE.

Our mission was twofold. First, we sought to create a platform where individuals from around the world could come together, share their experiences, and support one another. We wanted to foster a sense of community, breaking the isolation often experienced by those affected by rare diseases. Through traditional media channels, we reached out to individuals, gathering blood samples, tissue, medical histories, and records to build a comprehensive repository of knowledge.

However, we soon realized that relying solely on shared resources would not be enough. We needed to delve deeper into the world of scientific research. Determined to bridge the gap between science and advocacy, we borrowed bench space at a lab in Harvard. With the help of a generous neighbor, who cared for our children while we worked late into the night, my husband and I embarked on a journey of hardcore bench science.

Though we lacked formal scientific training, we received guidance and tutelage from generous postdocs who believed in our cause. With their support, we extracted DNA, ran and scored gels, and tirelessly searched for the elusive gene responsible for PXE. After years of dedicated effort, we finally succeeded. We patented the discovery, ensuring it would be freely available to researchers worldwide.

But our work didn’t stop there. We created a diagnostic test, established a research consortium, and even opened a center of excellence. We were determined to leave no stone unturned in our pursuit of understanding and finding treatments for PXE. Through our efforts, we connected with over 4,000 people worldwide who shared our struggle, holding patient meetings and conducting clinical trials.

Throughout this incredible journey, fear lurked in the shadows. Fear of the disease’s relentless progression, fear of the daunting scientific landscape, and fear of the unknown. However, our unwavering commitment to our children, the PXE community, and the countless individuals we met along the way propelled us forward.

PXE International was just the beginning. We realized that the work we were doing for PXE could extend to other rare diseases as well. We joined forces with Genetic Alliance, a network of health advocacy and research organizations, to build scalable resources like biobanks, registries, and directories

When my husband and I embarked on our journey to tackle pseudoxanthoma elasticum (PXE), we encountered formidable barriers that seemed insurmountable at first. These barriers encompassed the worlds of science, sharing, and advocacy, posing significant challenges along the way.

The first barrier we faced was our lack of scientific backgrounds. As a manager in a construction company and a former college chaplain turned stay-at-home mom, my husband and I were far from the traditional image of researchers. However, fueled by our determination to find solutions for PXE, we dove headfirst into the world of scientific literature.

Medical articles, dictionaries, and scientific textbooks became our constant companions as we sought to grasp the intricacies of PXE. Though the complex scientific concepts often proved daunting, we persisted, determined to understand the patterns and reveal the gaps in research. It became evident that there was no systematic effort to comprehend PXE fully, leaving us with a deep sense of urgency to take action.

The second barrier, and perhaps the most disheartening, was the lack of sharing among researchers. In an environment that rewarded competition rather than collaboration, progress was hindered. This culture of non-sharing impeded the collective effort to understand and address PXE comprehensively.

Undeterred, we founded PXE International, a non-profit organization committed to fostering collaboration, sharing, and advocacy. Our goal was to create a platform where individuals affected by PXE could come together, share their experiences, and support one another. Through traditional media channels, we reached out to people worldwide, urging them to contribute their blood samples, tissues, medical histories, and records. It was through this shared resource that we began to build a foundation of knowledge and support.

However, we soon realized that relying solely on shared resources would not be sufficient. To truly make a difference, we needed to bridge the gap between scientific research and advocacy. With a thirst for knowledge and armed with determination, we sought bench space at a lab in Harvard University.

Supported by a generous neighbor who cared for our children, my husband and I delved into the realm of hardcore bench science. Despite our lack of formal scientific training, we embarked on the arduous task of DNA extraction, gel running, and gene discovery. Our dedication paid off when, after years of tireless effort, we successfully identified the gene responsible for PXE.

Not content with merely making a discovery, we took the necessary steps to ensure its accessibility. We patented the gene, allowing it to be freely available to researchers around the world. Furthermore, we developed a diagnostic test, formed a research consortium, and established a center of excellence. Our aim was to leave no stone unturned in our pursuit of understanding PXE and finding effective treatments.

Fear was a constant companion throughout our journey. Fear of the disease’s progression, fear of navigating the complex scientific landscape, and fear of making the wrong choices. However, we drew strength from our unwavering commitment to our children, the PXE community, and the countless individuals we encountered along the way.

Our efforts were not confined to PXE alone. We recognized that the work we were doing could have a broader impact. Thus, we joined forces with Genetic Alliance, a network of health advocacy and research organizations. Together, we built scalable resources such as biobanks, registries, and directories to support individuals affected by various rare diseases.

Through science, sharing, and advocacy, we defied the barriers that stood in our path. Our journey was filled with challenges, but the collective determination of the PXE community and the unwavering support we received propelled us forward. Today, we continue to strive for a future where collaboration and sharing are at the forefront

The Power of Collaboration: Uniting for Research and Solutions

When faced with the challenges posed by pseudoxanthoma elasticum (PXE), my husband and I realized that we couldn’t do it alone. We needed to forge partnerships, break down barriers, and foster collaboration to make a lasting impact on the lives of those affected by this rare genetic disorder.

Recognizing the strength in numbers, we established PXE International as a platform for individuals worldwide to come together, share their experiences, and support one another. Through traditional media channels, we reached out to people near and far, urging them to contribute their blood samples, tissues, medical histories, and records. This shared resource became the foundation upon which our collective knowledge and support grew.

However, we soon realized that collaboration needed to extend beyond the sharing of resources. We needed to bridge the gap between scientific research and advocacy. With an unwavering determination, we sought bench space at a renowned institution, where we could conduct hands-on research and further our understanding of PXE.

Supported by generous postdocs, who selflessly shared their expertise, my husband and I delved into the world of hardcore bench science. We conducted DNA extractions, ran gels, and tirelessly searched for the elusive gene responsible for PXE. It was through this collaborative effort that we finally achieved a breakthrough—identifying the gene and patenting it to ensure its accessibility to researchers worldwide.

But our commitment to collaboration didn’t end there. We recognized that the power of collective knowledge extended beyond PXE alone. We joined forces with Genetic Alliance, an extensive network of health advocacy and research organizations. Together, we built resources like biobanks, registries, and directories, which served as valuable tools not only for PXE but also for other rare diseases.

Through collaboration, we defied the barriers that stood in our way. We refused to accept the status quo and instead fostered a culture of sharing, innovation, and collective problem-solving. By connecting with researchers, clinicians, and individuals affected by PXE and other rare diseases, we created a vibrant community driven by a common purpose—to find solutions, advocate for change, and improve lives.

This journey has taught us the incredible power of collaboration. Alone, we may be limited in our scope and capabilities, but when we come together, we become an unstoppable force. The challenges we faced were daunting, but the collective determination and unwavering support of the PXE community propelled us forward. It is through collaboration that we have made significant strides in understanding PXE and paving the way for innovative treatments and therapies.

As we continue on this path, we invite others to join us. Let us unite, regardless of backgrounds or disciplines, to tackle the complexities of rare diseases together. Together, we can drive research, advocate for change, and enable individuals to take charge of their health. The power of collaboration knows no bounds, and together, we can make a lasting impact on the lives of those affected by rare genetic disorders like PXE.

Hugging Fear: Discovering Boundless Love and Healing

In the face of fear and uncertainty, profound lessons emerged, reshaping our perspective on life and instilling in us a newfound understanding of love and healing. The journey through my children’s diagnosis of pseudoxanthoma elasticum (PXE) was one that not only tested our toughness but also revealed the depths of our capacity to love.

As we grappled with the reality of PXE, fear became a constant companion. Fear of the disease’s relentless progression, fear of the unknown, and fear of making the wrong choices weighed heavily upon us. Yet, beneath the layers of fear, we discovered a profound source of strength—the boundless love we had for our children and the PXE community.

PXE became more than a medical condition; it became a catalyst for personal growth and self-discovery. Our children, Elizabeth and Ian, demonstrated an unwavering toughness and an ability to hug life with PXE rather than constantly fighting against it. In their wisdom, they taught us an invaluable lesson—to live with the disease rather than be consumed by it.

Through their example, we began to question the origins of our fears. We realized that our fear was not rooted in death itself but rather in the vastness of our capacity to love. The expansiveness of our love made us vulnerable to the pain of loss, and it was this vulnerability that held us back. However, as we confronted our fear and leaned into it with gentle curiosity, we discovered an extraordinary wealth within ourselves and others.

This newfound perspective led us on a path of introspection and personal growth. We came to understand that fear was not a warning to retreat but an invitation to move forward with love and compassion. We recognized that our outer work—advocacy, research, and collaboration—was intricately intertwined with our inner work of healing and personal transformation.

The journey of hugging fear and delving into its depths required us to challenge the very systems that perpetuated it. We called upon researchers, clinicians, and administrators to take risks and rethink their roles in the pursuit of better healthcare. As we demanded change from others, we also explored our own practices, recognizing that true transformation required introspection and vulnerability from all parties involved.

Through our work with PXE International and Genetic Alliance, we sought to dissolve the barriers of “us versus them.” We envisioned a future where organizations and individuals collaborated freely, unencumbered by misaligned incentives or self-interest. This vision prompted us to ask ourselves, “How can we create a culture of open sharing, where ideas flow freely and people come together to face challenges?”

We understood that our power as changemakers grew exponentially when we opened ourselves up to the system and the people who challenged us. Our inner lives were intricately connected to our outer work, and by hugging fear and vulnerability, we found practical solutions alongside the core of healing and health.

As we reflect on our journey, we stand in awe of the strength, toughness, and love that emerged from the depths of our experiences. The lessons learned extend far beyond PXE; they touch the essence of what it means to be human. Our children, now in their late twenties, serve as a constant reminder of the indomitable human spirit and the capacity for happiness and health, even in the face of adversity.

So, I invite you to hug your fear, to explore the things that scare you, and to discover the love that lies at the center. In doing so, you will not only find yourself but also step into the shoes of those you fear and those who fear you. Together, we can create a future where compassion, collaboration, and love guide our path, and where challenges are met with unwavering determination and the belief

Stepping into the Unknown: Hugging Vulnerability for Change

Life has a way of leading us into uncharted territories, where our true strength and toughness are put to the test. For my husband and me, the journey through the unknown began when our children were diagnosed with pseudoxanthoma elasticum (PXE). It was a moment that shattered our world and thrust us into a realm of uncertainty and vulnerability.

As we navigated the unfamiliar landscape of PXE, we realized that hugging vulnerability would be our key to effecting change. It required us to step outside our comfort zones, confront our fears, and challenge the existing systems that perpetuated the status quo. We embarked on a path that would not only transform our lives but also enable others facing similar battles.

In our quest for knowledge and understanding, we soon discovered that vulnerability was not a weakness but a gateway to personal growth and collective progress. It was through vulnerability that we opened ourselves up to the possibility of change and allowed ourselves to be shaped by the experiences that lay ahead.

One significant aspect of hugging vulnerability was our willingness to ask for help and seek guidance from others. We recognized that we couldn’t single-handedly sort out the complexities of PXE and drive meaningful change. We reached out to researchers, clinicians, and individuals affected by PXE, forging partnerships based on shared experiences and a common goal.

Together, we confronted the limitations of the existing systems and advocated for a more collaborative and compassionate approach. We challenged the competitive nature of research and instead fostered a culture of cooperation and shared knowledge. By encouraging scientists and institutions to share data, ideas, and resources, we were able to propel research forward and accelerate the search for effective treatments and therapies.

Hugging vulnerability also meant hugging the unknown. It meant taking risks and daring to envision a future that deviated from the well-trodden path. We realized that true progress could only be achieved by challenging the status quo and pushing beyond the boundaries of what was deemed possible.

In our pursuit of change, we learned that vulnerability and compassion go hand in hand. As we listened to the stories and struggles of individuals affected by PXE, we developed a deep sense of empathy and understanding. This empathy became the driving force behind our advocacy efforts, as we fought for greater awareness, support, and resources for the PXE community.

Throughout our journey, we witnessed the transformative power of vulnerability. By hugging our own vulnerabilities, we created a safe space for others to do the same. We encouraged individuals to share their stories, ask difficult questions, and challenge the norms that perpetuated their suffering. It was in this collective vulnerability that we found strength, toughness, and a shared commitment to effecting change.

Stepping into the unknown is never easy, but it is often in those moments of vulnerability that we discover our true potential. It is a reminder that we are all human, bound by our shared experiences of love, fear, and toughness. By hugging vulnerability, we can break down barriers, ignite meaningful dialogue, and pave the way for a future characterized by compassion, understanding, and positive transformation.

As we continue our journey, we invite you to hug your own vulnerabilities and find the courage to step into the unknown. Together, let us create a world where vulnerability is celebrated, where change is driven by empathy and collaboration, and where our collective strength knows no bounds.

Conclusion

The journey through pseudoxanthoma elasticum (PXE) has been a profound testament to the power of toughness, collaboration, and hugging vulnerability. In the face of fear and uncertainty, my husband and I embarked on a path that forever changed our lives and those of countless individuals affected by rare genetic disorders.

Through the challenges we encountered, we discovered that true transformation lies in our willingness to step outside our comfort zones and confront the unknown. By hugging vulnerability, we unlocked a wellspring of strength and compassion that propelled us forward, even when the path seemed daunting.

Collaboration became our guiding principle as we fostered partnerships and built networks of support. We recognized that collective knowledge, shared resources, and a collaborative spirit were essential in driving research, advocating for change, and improving the lives of individuals facing PXE and other rare diseases.

Our journey taught us that the existing systems, rooted in competition and self-interest, needed to be challenged. By challenging these systems, we created space for empathy, understanding, and a shared commitment to progress. It was through this collective effort that we defied the barriers that stood in our way and brought about meaningful change.

We also discovered the profound impact of hugging fear and vulnerability. Rather than letting fear paralyze us, we learned to lean into it, transforming it into a catalyst for growth, love, and healing. We discovered that the boundless love we had for our children and the PXE community gave us the strength to confront our fears and advocate for a brighter future.

As we conclude this chapter of our journey, we extend an invitation to all who touch with our story. Hug vulnerability, challenge the existing norms, and forge connections with others who share your passion for change. Together, we can create a world where collaboration, compassion, and toughness prevail, where the boundaries of what is possible are continually pushed, and where the lives of those affected by rare genetic disorders are filled with hope, support, and meaningful progress.

The road ahead may be uncertain, but with unwavering determination, empathy, and a commitment to collaboration, we have the power to transform lives, rewrite narratives, and build a future where no one faces the challenges of rare diseases alone. Let us continue to hug vulnerability, celebrate our shared humanity, and work tirelessly to create a world that leaves no one behind.