Three generations. One shared journey. A legacy of strength.

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by Susan Bolton

Co-Founder of IM Strong Foundation

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The story of our family is one marked by confusion and a persistent necessity: the need to understand a rare condition that weaves through our bloodline. It began not with clarity, but with a misdiagnosis, a common hallmark of rare disease journeys.

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The Beginning: Confusion and Confrontation

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The earliest chapter belonged to my sister. Born with a spinal tumor, her first diagnosis was initially believed to be spina bifida, leading to immediate surgery. Unfortunately, the surgery left her with partial facial paralysis — a lasting reminder of how little was known about this rare condition at the time. The subsequent biopsy, however, delivered the first real name: neurofibromatosis. The necessity to act was immediate, but the path was already obscured.

Following her, I was born with three tumors — removed in infancy, never to return—a quiet early sign of the condition subtle presence. But the true familial pattern became undeniable when the next generation arrived.

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The Second Generation: The Echo of Concern

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When my first child was born, my mothers concern became my own. A lump in his hand followed by a second in his leg. At just 29 days old, he faced surgery. The diagnosis finally shifted to the one that would define our families struggle: Infantile Myofibromatosis. One tumor was removed, but the other, due to its invasiveness, remained.

This decision foreshadowed the surgical complications we would continue to face.

This was the moment of retrospective discovery: we realized my sisters, my own, and my sons symptoms all shared this underlying, little-known condition. In the 1990s, information was sparse, and even brief genetic counseling during my second pregnancy provided little clarity. When my daughter arrived with tumors on her cheek and arm, coupled with a mysterious platelet deficiency, the necessity to monitor became routine. For years, weekly blood checks were a part

of life. Life moved forward, but the knowledge that this rare condition was an ever-present factor remained.

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Surgical Complexity and a Critical Misstep

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The complexity of the disease grew evident as my son entered his teenage years. We had believed that the tumors occurred in infancy and did not understand that they may continue throughout life. Tumors developed, their removal complicated by physicians who often underestimated their invasiveness. The decision to operate became a delicate balance between

removing a growth and risking significant nerve damage. Some were left, in hopes of spontaneous regression.

The most frightening chapter occurred when my son was in graduate school. A tumor in his oral

cavity was devastatingly misdiagnosed as Stage 4 squamous cell cancer. The medical team moved swiftly based on this serious error. It took the astute wisdom of a pathologist, who noted deviations in the spindle cells, to correct the diagnosis back to a benign myofibroma. This close call solidified our families deep-seated understanding of the necessity for expertise and the danger of misdiagnosis in the rare disease space.

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The Third Generation: A Quest for Knowledge

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With the birth of my daughter’s children, the story evolved, moving from mere confusion to a clear quest for knowledge and community. When her son was born with tumors in his leg & head (2020), the medical world had advanced. A watch and wait approach was recommended, reflecting a better understanding of the conditions natural course.

However, when her second son arrived (2024), he presented with a far more serious, multi-centric form, involving several tumors and a greater systemic impact. Our family had only experienced solitary tumors, never visceral involvement - therefore this case in our family presented a new, urgent need for more research.

 

The Legacy of Necessity

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Across three generations, we have navigated an often-bewildering medical landscape of initial

confusion, devastating misdiagnoses, and the constant, critical need for more information.

This journey has culminated in a clear mission: to move beyond being passive recipients of care.

Our experience has forged a powerful, necessary drive to develop a community—a resource to provide support, understanding, and critical information for other families confronting the challenging reality of Infantile Myofibromatosis.

 

Families like ours shouldn’t have to navigate this road alone, and children like ours deserve more answers than what currently exists. That’s why we created the IM Strong Foundation. Our mission is to support families through emotional connection, empower researchers with patient data to drive better treatments, and spread knowledge so that no parent ever feels isolated when facing an IM diagnosis. What began as one family’s story has grown into a movement of resilience. Together, we believe we can build a future where families affected by Infantile Myofibromatosis have access to the support, information, and treatments they need — and where every child has the chance to thrive. 

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Because rare doesn't mean alone, together we are stronger than IM.