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FORESITE 360 is Hope for Genetic Diseases (Part 5)

Approximately 10% of the U.S. population is affected by a rare disease, and nearly half of these cases involve children. Out of over 7,000 identified rare diseases, around 72% have genetic origins. Furthermore, 70% of these genetic disorders begin manifesting during childhood. These disorders are typically the result of alterations in a single gene or a combination of genes and are present from the moment of birth. Genetic disorders aren’t all hereditary from parents. Children can develop genetic disorders that aren’t familial. This requires every parent’s attention.

Often elusive and complex, these conditions cast families into a maze of uncertainty and frustration. Among these families are individuals like Jessica and Sophie, whose journey epitomizes the struggle and resilience faced in the search for answers. Their story is not just one of medical challenges, but a testament to the strength of a mother’s spirit in the face of daunting odds.

For Jessica, the journey began with Sophie's birth – a moment of joy quickly overshadowed by a creeping realization that something was amiss. As days turned into months, and months into years, their quest for a diagnosis took them through a gauntlet of emotions, from hope to despair, determination to exhaustion. Their path, like that of many others, was riddled with unknowns, each doctor’s visit offering a glimmer of hope, each misdiagnosis a plunge back into the depths of uncertainty. Their story reflects a larger narrative experienced by millions worldwide, a narrative of grappling with rare conditions that defy easy answers and standard treatments.

The Landscape of Rare Diseases

The reality of living with a rare disease is more than just a statistic; it's a daily challenge faced by 30 million people across the U.S. These individuals and their families navigate a healthcare system that often seems ill-equipped to handle the complexities of their conditions. For Jessica and Sophie, this meant endless hours in sterile hospital waiting rooms, countless appointments that seemed to lead nowhere, and a mounting financial burden that no family should have to bear.

In this landscape, families find themselves battling not just the disease, but also the system. The emotional toll is immeasurable – the constant worry, the hope with each new consultation, the disappointment of yet another inconclusive test. Jessica’s journey with Sophie exemplifies this – a relentless quest for answers in a world where rare diseases remain one of the greatest challenges in modern healthcare.

The majority of rare diseases are genetic in origin. Embracing genetic testing as a cornerstone of medical care offers a transformative solution, steering us away from the unnecessary and costly cycle of treatments and tests that Sophie had to endure. This approach not only saves precious time and resources but also paves the way for more targeted and effective treatment strategies, fundamentally changing the landscape of healthcare for genetic conditions.

The Emotional, Physical, and Financial Toll

The journey Jessica and Sophie embarked on was more than a series of medical appointments and tests; it was a profound emotional and physical odyssey that spanned over two and a half years. Each consultation brought with it a mix of anticipation and anxiety, each misdiagnosis a crushing blow to their hopes. The emotional rollercoaster of this journey was relentless, with highs of potential breakthroughs and lows of disappointing setbacks.

For Sophie, the physical toll was evident in the countless invasive procedures she endured. Each medical intervention left its mark, both physically and emotionally. She faced the confusion and fear that comes with frequent hospital visits, needle pricks, and the buzz of imaging machines, all while grappling with symptoms that remained a mystery.

The financial aspect of their journey was equally daunting. Medical bills piled up, each test adding to an ever-growing financial burden. For Jessica, this meant making heart-wrenching personal sacrifices. She had to leave a stable career, upend her professional life, and seek a more flexible job – all to accommodate the unpredictable and demanding nature of Sophie’s medical needs. The cost of seeking a diagnosis went beyond finances; it extended to Jessica’s career, Sophie’s childhood experiences, and their overall family life.

The Broader Family Impact

In the world of chronic illness, the focus on the affected child can unintentionally shift the family’s equilibrium. Jessica’s story is a stark reminder of this delicate balance. As Sophie’s health concerns took center stage, other aspects of family life inevitably moved to the background. This shift often led to reduced attention for other family members, creating a ripple effect of guilt and strain within the family unit.

For Jessica, balancing the needs of her family while navigating Sophie's healthcare journey was a constant challenge. The pursuit of a diagnosis for one child meant countless hours away from home, leading to missed milestones and everyday moments with other family members. This singular focus, while necessary, sometimes left little room for normal family activities, contributing to a sense of isolation and disconnection.

The emotional impact on the family extended beyond the immediate stress of medical appointments and treatments. It permeated everyday interactions, with the constant undercurrent of worry and uncertainty about Sophie’s condition affecting the overall family dynamic. Family members, while supportive, also grappled with their own feelings of helplessness and frustration, highlighting the multifaceted impact of chronic illness on a family’s life.

Missed Preventative Care Opportunities

Looking back on Sophie's lengthy medical journey, a series of 'what-ifs' cast a long shadow. The potential for early interventions – like targeted physical therapy, specialized dietary plans, or swimming – which might have provided relief or slowed the progression of her symptoms, often remained unexplored. These interventions, which could have been started right away after a genetic diagnosis, could have significantly improved Sophie’s symptoms. 

FORESITE 360 - A Cornerstone of Innovation

FORESITE 360 is the innovative solution that brings to the table the power of Whole Genome Sequencing – a comprehensive approach to understanding a child's genetic makeup. Unlike traditional methods, which can be akin to searching for a needle in a haystack, FORESITE 360 offers a more targeted and efficient pathway to answers.

What sets FORESITE 360 apart is its commitment to ongoing support and analysis. With physician-prescribed testing and expert genetic counseling, families are not left to navigate the complexities of genetic information alone. Moreover, the promise of consistent annual re-analysis until the age of 18 ensures that as medical knowledge advances, so too does the understanding of a child’s condition. This feature is particularly crucial in the world of rare diseases, where new discoveries can significantly alter treatment and management plans. Every year represents an opportunity for parents to find that one important diagnosis that will transform their child’s care strategy and end a long journey for answers.

By potentially condensing years of uncertainty into weeks of targeted investigation, FORESITE 360 not only alleviates the financial burden but, more importantly, reduces the emotional and psychological strain on families. It represents a paradigm shift in how we approach the diagnosis and management of rare diseases – from a scattered, often hit-and-miss process to a streamlined, informed, and compassionate journey. For families like Jessica and Sophie, FORESITE 360 would have offered not just answers but a renewed sense of hope and a clear path forward in their healthcare journey.

The Revolution of FORESITE 360

The journey through the world of rare diseases can be an overwhelming and daunting path for any family. The story of Jessica and Sophie is a stark reminder of this reality. However, the landscape of healthcare is changing, and with these changes come new rays of hope. FORESITE 360 stands at the forefront of this revolution, offering more than just genetic testing – it provides peace of mind, clarity, and a proactive approach to safeguarding your child's health.

As a parent, the decision to choose FORESITE 360 is not merely a consideration; it is an imperative step toward ensuring the well-being of your child. With its comprehensive Whole Genome Sequencing, expert genetic counseling, and ongoing re-analysis, FORESITE 360 equips you with the most advanced tools in medical science. It’s an investment in your child’s future, offering the promise of early detection and tailored care that could make a world of difference.

The story of Jessica and Sophie is a powerful call to action for every parent – to be proactive, to be informed, and to choose a path that offers the best protection for your child.

A Story of Resilience and Hope: Embracing the Future with FORESITE 360

Amidst the challenges and uncertainties of their journey, there is a heartwarming and inspiring aspect to Sophie's story that deserves recognition. Despite the hurdles she has faced, Sophie remains a bright, vibrant young girl, full of life and an infectious positivity that lights up every room she enters. Her resilience and spirit are a testament to the love and dedication of her mother, Jessica. Jessica’s unwavering commitment to her daughter's well-being, her relentless pursuit of answers, and her advocacy for Sophie’s health have been nothing short of heroic. 

We extend our deepest gratitude to both Sophie and Jessica for sharing their story with us. Their journey is not only a source of inspiration but also a powerful reminder of the strength and love that defines the bond between a parent and child. Sophie’s journey continues to be one filled with hope, courage, and the unyielding support of a mother who stands as a pillar of strength and dedication.

In a time when medical advancements are breaking new ground, don’t let your child’s health journey be hindered by uncertainty and the limitations of traditional approaches. Make the choice today to begin FORESITE 360, and step into a future where your child’s health is monitored and protected with the utmost precision and care. This isn’t just a product; it's a lifeline, a guardian in the complex world of healthcare, ensuring that your child doesn’t have to face the same challenges as Sophie. Act now, because in the journey of parenthood, the greatest gift we can offer our children is the assurance of their health and well-being.

Contact Jessica Fabre

Jessica Fabre is a very active parent advocate in Limb Girdle Muscular Dystrophy communities and other genetic health condition groups for parents and families. Jessica became a FORESITE 360 brand and parent ambassador because of her passion to help parents in this situation. Jessica regularly speaks to physicians offices and parent groups to educate them on the power of proactive genetic testing and how it can change a family’s story. 

If you’re a parent with questions, a physician organization, or a parent group that would like to have Jessica speak at an event, please contact Jessica for availability at

Thank you Jessica for sharing your story with so many families!

For those looking for deeper insights into genetic screenings, check out our informative E-book, Parent’s Guide to Newborn and Infant Genomics.

Part 1: Uncharted Waters: The Gap in Newborn Genetic Screening

Part 2: The Unseen Path - Transitioning from a Healthy Baby to a Watchful Childhood

Part 3: Navigating the Labyrinth: The Quest for a Diagnosis

Part 4: Beyond the Norm - The Urgent Call for Precision Medicine

Part 5: FORESITE 360 is Hope for Genetic Disease

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Parent's Guide eBook

Dive deeper into the world of newborn and infant genomics with our comprehensive eBook! Learn about the past, present and future of genetic screening and diagnostics. Simply enter your email below and embark on this enlightening journey. Questions? Reach us at