The Woman Who Couldn’t Stop Growing Tumors (Neurofibromatosis)
Understanding the Causes, Symptoms, and Treatments
Charmaine Sahadeo is a woman from Trinidad who has lived with one of the most severe documented cases of neurofibromatosis type 1 (NF-1), a rare genetic disorder that causes tumors to develop throughout the body. Neurofibromatosis causes benign tumors to grow on nerves, leading to physical changes, discomfort, and significant medical challenges. The condition is not contagious, and although the tumors are usually non-cancerous, their number and size can severely impact daily life.
People with NF-1, like Charmaine, experience growths covering much of their skin and sometimes forming internally, affecting appearance and health. Many individuals must undergo surgeries or other treatments to manage the effects. Stories like Charmaine's reveal the reality of living with neurofibromatosis and help raise awareness about this often misunderstood condition.
Understanding Neurofibromatosis
Neurofibromatosis (NF) is a group of rare, genetic disorders that cause tumors to form on nerve tissue throughout the body. These conditions can impact the skin, nervous system, and other organs, leading to a range of symptoms and medical complications.
Types of Neurofibromatosis
There are three main types of neurofibromatosis: NF1 (Neurofibromatosis Type 1), NF2 (Neurofibromatosis Type 2), and Schwannomatosis. NF1 is the most common, affecting approximately 1 in 3,000 individuals worldwide. Its hallmark features include café-au-lait spots (light brown skin patches), neurofibromas (benign nerve tumors), and Lisch nodules on the iris.
NF2 is far less common, with an incidence of about 1 in 25,000 to 40,000 people. It primarily causes vestibular schwannomas, tumors on the nerves responsible for hearing and balance, often leading to hearing loss. Schwannomatosis, the rarest form, involves multiple benign nerve sheath tumors known as schwannomas but does not typically cause vestibular tumors like NF2.
Type Frequency Main Features NF1 1 in 3,000 Skin changes, neurofibromas, eye findings NF2 1 in 25,000-40,000 Vestibular schwannomas, hearing loss Schwannomatosis Rarest Multiple schwannomas, chronic pain
Genetic Basis and Inheritance Patterns
Neurofibromatosis is a genetic disorder caused by mutations in specific genes. NF1 is due to changes in the NF1 gene on chromosome 17, and NF2 comes from mutations in the NF2 gene on chromosome 22. Schwannomatosis is linked to mutations in the SMARCB1 or LZTR1 genes.
These are generally autosomal dominant conditions, which means a person only needs to inherit a mutated gene from one parent to develop the disease. However, about half of cases occur due to spontaneous mutations, with no prior family history. This aspect complicates genetic counseling and family planning, especially for those with no known relatives affected by NF.
Genetic testing is available for all three disorders, which helps confirm the diagnosis and clarify inheritance risks.
Symptoms and Diagnosis
Neurofibromatosis can present a wide variety of symptoms, some of which appear in infancy or early childhood. In NF1, symptoms often include skin changes such as café-au-lait spots, freckling in body folds, and the development of neurofibromas on or under the skin. Learning disabilities and bone abnormalities can also occur.
With NF2, the most common early sign is hearing loss, often due to tumors on the auditory nerves. Schwannomatosis may present with chronic pain and schwannomas on cranial, spinal, or peripheral nerves, usually without the skin findings of NF1.
Doctors diagnose NF using a combination of clinical examination, family history, and imaging tests such as MRI. Early identification is crucial, as it enables close monitoring for complications and timely intervention.
Neurofibromatosis Type 1 (NF1) Explained
Neurofibromatosis type 1 (NF1) is a common genetic disorder that causes distinctive changes in the skin and the growth of tumors along nerves. People with NF1 often face a lifetime of monitoring and management because of its broad range of symptoms and potential complications.
Von Recklinghausen’s Disease
NF1, also known as Von Recklinghausen’s disease, is inherited in an autosomal dominant pattern. This means one affected copy of the NF1 gene is enough to cause the condition. The condition results from mutations in the NF1 gene, which codes for neurofibromin—a protein that acts as a tumor suppressor.
Patients typically show signs in early childhood. Classic features include café-au-lait spots (light brown skin patches), freckling in unusual areas like the armpits, and neurofibromas, which are soft, benign tumors on or under the skin. Lisch nodules, small pigmented bumps on the iris, are another hallmark.
The symptoms and severity can vary greatly even within the same family. Some individuals may develop only minor skin findings, while others experience multiple nerve tumors, bone deformities, or learning disabilities.
Complications and Tumor Growth
NF1-associated tumors primarily include neurofibromas, which develop on nerves throughout the body. While most are benign, some can become problematic by growing large, causing pain, or pressing on vital structures. Rarely, a benign neurofibroma can transform into a malignant peripheral nerve sheath tumor.
Other complications may affect learning, growth, and bone development. Scoliosis and long bone abnormalities are observed in some patients. Individuals are also at greater risk of developing other medical issues, such as hypertension.
Regular medical surveillance is recommended for early detection of complications. Treatment usually focuses on managing symptoms and removing troublesome tumors when necessary. There is no cure for NF1, making long-term care and support essential for affected individuals.
Charmaine Sahadeo’s Journey
Charmaine Sahadeo, a woman from Trinidad, has faced one of the most severe known cases of neurofibromatosis type 1 (NF1). Her life has been shaped by the relentless growth of tumors, a challenging diagnosis, and significant attention from both her local community and international media.
Living with a Debilitating Condition
Charmaine Sahadeo’s daily life has been dominated by the presence of thousands of tumors on her skin and beneath the surface. The tumors began developing in her early childhood and increased in both number and size as she aged.
Simple activities, such as sleeping or walking, were often uncomfortable. Many of these tumors caused pain, restricted movement, and sometimes led to infections or bleeding.
Sahadeo reported that even basic tasks, including combing her hair or applying lotion, could be difficult. She often dealt with stares in public, which contributed to feelings of isolation.
The condition impacted not just her physical health but also her social life and self-image. Despite these challenges, she worked to care for her children and manage her household in Chaguanas, Trinidad.
Diagnosis and Family History
Charmaine was diagnosed with neurofibromatosis type 1, a genetic disorder that causes tumors to form on nerve tissue. Her diagnosis was confirmed after the appearance of multiple neurofibromas and other distinctive clinical features.
A detailed family history indicated that NF1 runs in her family, though her case is unusually severe. Symptoms first appeared in early childhood with small bumps, but these gradually increased until tumors covered her scalp, face, torso, and limbs.
NF1 is an autosomal dominant disorder, meaning it only requires one copy of the mutated gene to manifest. In Charmaine’s family, several relatives showed mild signs of the disease, highlighting its variable presentation.
Careful assessment by doctors revealed no internal organ involvement at first. Over time, however, the external tumors multiplied at a much faster rate, leading to increased health risks and the need for medical intervention.
Media Spotlight: 'Take My Tumor'
Charmaine’s experience received international attention through the television program Take My Tumor. The show documented her journey with neurofibromatosis and her participation in life-altering surgeries.
In one episode, viewers saw the extensive challenges she faced, with tumors obstructing her vision and affecting her hearing. The medical team dedicated over 60 hours to multiple surgeries aimed at removing thousands of growths.
The program highlighted her resilience and the complexities of treating such a severe NF1 case. Graphic footage helped raise awareness of the disorder and the difficulties patients endure daily.
After surgery, Charmaine expressed renewed confidence and hope. The show’s exposure brought her story to a wider audience and helped destigmatize the condition.
Support in Trinidad
Charmaine Sahadeo has relied on a support system in Trinidad that includes her children, relatives, and close friends. The local medical community provided care, although resources were sometimes limited.
She often travelled long distances for specialist consultations. Funding surgeries and ongoing care was a significant challenge, so community groups sometimes helped coordinate assistance and raise funds.
Awareness generated by media appearances resulted in increased support from both local and international organizations. This helped secure medical supplies, transportation, and aftercare following major surgeries.
Charmaine has continued to advocate for people with rare conditions in Trinidad. Her story has encouraged greater recognition of neurofibromatosis and contributed to slowly growing support for others affected by the disorder in the region.
Medical Management of Neurofibromatosis
Care for neurofibromatosis requires coordination among multiple medical specialties. Direct tumor management and patient support depend on timely intervention and expert guidance.
Multidisciplinary Medical Team
A multidisciplinary team helps patients navigate complex health needs, including tumor surveillance, pain control, and psychological support. Regular follow-up is essential to monitor tumor growth, neurologic changes, and complications such as learning difficulties or bone abnormalities.
The team often includes a neurologist, genetic counselor, dermatologist, orthopedic specialist, and sometimes physical therapists to address mobility issues. Psychological specialists provide counseling, particularly for patients dealing with visible tumors or chronic pain.
Regular imaging (MRI, CT scans) is frequently used to monitor for malignant changes, especially in children and young adults. Coordination among providers ensures that patients receive individualized care and that potentially serious complications are detected early.
Role of the Oncologist
An oncologist evaluates patients for signs of malignant transformation, which is a risk in certain neurofibromatosis cases. Tumors such as malignant peripheral nerve sheath tumors (MPNSTs) need rapid assessment and intervention.
Oncologists often manage cases using a combination of updated imaging, biopsy, and collaboration with radiologists. They play a crucial role in determining when to start chemotherapy, targeted therapies, or immunotherapy for inoperable or aggressive tumors.
Pain can become severe in some cases, so oncologists coordinate pain management using medications like gabapentin, tramadol, or non-steroidal anti-inflammatory drugs (NSAIDs). They also track response to emerging treatments for plexiform neurofibromas, such as MEK inhibitors.
Head and Neck Surgical Oncologist
Head and neck surgical oncologists are critical for managing tumors in sensitive or visible areas, such as the face or neck. Dr. Ryan Osborne is among specialists recognized for expertise in delicate removal of facial or cranial neurofibromas.
Surgical intervention is often chosen when tumors pose a functional risk (affecting vision, hearing, or swallowing) or lead to significant cosmetic concerns. Pre-operative planning relies on detailed imaging and coordination with plastic surgeons to optimize both function and appearance.
After surgery, these specialists monitor for recurrence and collaborate with reconstructive surgeons as needed. Their expertise is especially important for minimizing surgical risk in areas densely packed with nerves and blood vessels.
Treatment Options and Innovations
Managing neurofibromatosis, especially in cases with aggressive tumor growth, requires a combination of therapies and frequent decision-making. Surgery, drug treatments, and clinical trials each play specific roles in treatment, often overlapping through a patient’s journey.
Surgical Interventions and Challenges
Surgery remains the primary approach to removing problematic tumors in neurofibromatosis. These procedures are often used when tumors cause pain, impair function, or risk malignant change. Tumor removal can use either general or local anesthetic, depending on size and location.
However, surgery for neurofibromatosis is complex. Tumors may be entwined with nerves or blood vessels, making complete removal difficult without risking further damage. Recurrence is common; even after successful removal, neurofibromas can regrow at the same or nearby site.
Despite these difficulties, advancements in imaging and surgery have improved precision and safety. Surgeons sometimes use advanced mapping techniques to minimize nerve injury, but post-surgical complications such as scarring and functional loss remain significant concerns.
Multiple Surgeries and Recovery
Many individuals with extensive or recurring tumors require multiple surgeries over their lifetime. Each operation carries cumulative risks, including increased scarring, longer recovery times, and psychological impacts.
Recovery can vary widely based on tumor size, number, and location. For example, removal of plexiform neurofibromas—often large and intertwined with tissues—may need extensive postoperative care. Physical therapy is sometimes necessary to restore movement or relieve nerve pain.
Some patients also experience emotional challenges, including anxiety about additional surgeries or the results of healing. Support groups and counseling can be essential components of care, helping manage both physical recovery and overall well-being.
Chemotherapy and Drug Therapies
Drug therapy has become increasingly important for treating neurofibromatosis tumors that are inoperable or likely to regrow. One key medication is selumetinib, a MEK inhibitor that has shown effectiveness in shrinking plexiform neurofibromas, particularly in clinical trial settings.
Selumetinib is now FDA-approved for certain pediatric cases, especially when surgery is not possible. Treatment regimens may last months or years and often require regular monitoring for side effects.
Other drugs and chemotherapies are under investigation, and some patients may access them through clinical trials. These therapies offer new hope for reducing tumor burden and preserving quality of life, especially when traditional surgical approaches are not feasible.
Tumor Diagnosis and Monitoring
Accurate diagnosis and continued monitoring are essential in managing neurofibromatosis. Early detection and intervention can help address complications caused by tumor growth, especially those affecting the brain and nerves.
Diagnostic Imaging: MRI
MRI (Magnetic Resonance Imaging) is the primary tool for identifying and monitoring tumors in neurofibromatosis. MRI scans provide detailed images of the brain, spine, and peripheral nerves, helping doctors locate tumors, assess their size, and note any changes over time.
Routine MRI imaging is especially important for detecting optic gliomas and other tumors that might not be easily visible on physical examination. For children and adults with neurofibromatosis type 1 (NF1) or type 2 (NF2), regular MRI is often recommended to catch tumors before they cause symptoms.
Doctors may use contrast agents during MRI to distinguish tumor tissue from normal nerves. MRI is also useful for identifying structural changes in the brain, ensuring that any newly developed or growing tumors are closely monitored.
Shunt Placement and Hydrocephalus
Hydrocephalus, an abnormal buildup of fluid in the brain, can develop if tumors obstruct the flow of cerebrospinal fluid. This condition may lead to increased intracranial pressure, headaches, or changes in behavior and cognition.
In cases where hydrocephalus occurs, a neurosurgical intervention called shunt placement may be required. A shunt is a thin tube surgically inserted to drain excess fluid from the brain to another part of the body, such as the abdomen, where it can be absorbed.
Regular monitoring with MRI is essential after shunt placement. It helps ensure the shunt remains functional and detects any related complications or tumor growth that might affect its operation. Early identification and management can help control symptoms and protect brain function.
Rehabilitation and Quality of Life
Living with neurofibromatosis often leads to numerous physical and practical challenges. Individuals must navigate both the visible impacts of tumors and the less obvious hurdles related to daily activities.
Occupational Therapy and Daily Living
Occupational therapy plays a vital role in supporting people with this debilitating condition. Therapists assess each person’s physical limitations, such as difficulties with hand function or mobility caused by tumor growth along nerves.
Key areas of focus include:
Challenge OT Intervention Limited mobility Adaptive equipment, home modifications Self-care struggles Training on modified techniques Social participation Community integration strategies
Therapists may recommend specialized assistive devices, ergonomic tools, or customized splints to improve independence. Emotional support is also provided, helping clients adapt to changes in appearance or function.
Research and Future Directions
Significant advances in neurofibromatosis research have opened new possibilities for managing this rare disease. Recent years have seen progress in clinical trial development and key involvement from the National Institutes of Health (NIH).
Clinical Trials and Emerging Treatments
Clinical trials have focused on finding effective therapies to reduce tumor growth and improve quality of life in neurofibromatosis patients. One of the most notable developments is the approval of selumetinib, a targeted therapy used for certain inoperable plexiform neurofibromas in children with NF1.
This drug, an oral MEK inhibitor, has shown measurable reduction in tumor size and symptom relief for some patients. Ongoing research continues to evaluate its long-term safety and effectiveness.
Other trials are examining new medications, combinations of targeted agents, and immunotherapies. Researchers are also studying how hormone regulation and genetic factors contribute to tumor development and progression.
Role of the NIH in Neurofibromatosis Research
The NIH plays a central role in advancing neurofibromatosis research through funding, oversight, and collaboration. Its involvement includes supporting multi-center trials, developing patient registries, and guiding basic science efforts to uncover genetic and molecular pathways involved in the disease.
The National Cancer Institute (NCI) at the NIH is active in both pediatric and adult studies. Dr. Brigitte Widemann and her team have led initiatives resulting in new therapeutic options, particularly for children with tumor-causing genetic disorders.
The NIH’s dedicated infrastructure has enabled the rare disease community to access promising clinical studies and share data across institutions for faster discoveries. Their efforts continue to shape the future direction of neurofibromatosis treatment and research.
