For many, the path to a correct diagnosis can be long and filled with uncertainty. This story highlights the resilience and determination of one patient who navigated a complex medical journey to find answers and hope at Mayo Clinic. The patient asked to remain anonymous for personal privacy reasons.

Onset of symptoms and diagnostic journey

The patient’s medical journey began in early 2020, just before the COVID-19 pandemic changed the world. An active and athletic individual, the patient was used to feeling strong and in control of her body. However, a casual comment from a colleague about the patient’s limping marked the beginning of a long and challenging path to diagnosis. "What happened to your leg?" the patient’s colleague asked, and the patient, unaware of any issue, brushed it off. But soon, she noticed that her legs felt unusually heavy and that something was truly off.

As the pandemic unfolded, the patient’s symptoms persisted. Despite her dedication to physical fitness and regular workouts, she couldn't shake the feeling that something was wrong. "I was very in tune with my body," she recalls. "I just felt something was off, but I pushed through it." With the world in lockdown, seeking medical help was complicated, but she was able to make an appointment to see her primary care physician, who referred her to a physical therapist.

Physical therapy, however, offered little relief. Accustomed to seeing results from her workouts, the patient found the exercises ineffective. "I took all these exercises they gave me, but I couldn't strengthen the muscle group that wasn't working well," she says. The pain in her hips grew worse, and her mobility continued to decline. Despite her efforts, including consulting various specialists and spending thousands on physical therapy, the patient’s condition remained a mystery.

Coming to Mayo Clinic

A turning point for the patient came when a close friend in Arizona suggested she seek help at Mayo Clinic. "You need to come out to Mayo," her friend urged. "They will look at you as a whole person, not just send you from one specialist to another." Encouraged by her friend's confidence in Mayo Clinic, she made the bold decision to move her life from San Antonio, Texas, to Arizona, for a chance at answers.

After arriving at Mayo Clinic’s campus in Arizona, she was met with a level of care and attention she hadn't experienced before. "The first doctor I saw spent an hour and a half with me," the patient recalls. "He wasn't in a hurry. He asked questions, examined me thoroughly, and really listened."

This comprehensive approach led to a series of tests and consultations with various specialists, including Sotiris Mitropanopoulos, M.D., a neurologist who played a pivotal role in her diagnosis.

After suspecting there was a genetic component to her symptoms and condition, Dr. Mitropanopoulos recommended that the patient undergo genetic testing at Mayo Clinic. "We did a custom gene panel (Mayo ID: CGPH), and that's when we found the LZTR1 gene variant," he explains. This discovery was significant, as it confirmed the patient’s diagnosis of schwannomatosis, a rare genetic disorder characterized by the development of multiple schwannomas, or nerve sheath tumors.

A correct diagnosis and treatment

For the patient, the diagnosis was both a relief and a source of sadness. "I was relieved that it wasn't all in my head," she says. "But I was also sad because being physically fit and taking care of my body has always been a top priority in my life." The diagnosis brought clarity, but it also meant coming to terms with a new reality.

Despite the challenges, the patient’s resilience and determination have been unwavering. She continues to manage her condition with the support of her healthcare providers and her own proactive approach. "I try to stay as physically fit as I can and focus on my nutrition," she says. "If I know I'm going to be doing something physically demanding, I make sure to manage my pain with medication and other strategies."

Understanding the custom gene panel CGPH

In cases of schwannomatosis, the creation of a custom gene panel is a crucial step in accurately diagnosing and managing the condition. The custom gene panel, referred to as CGPH, is designed to include specific genes known to be associated with schwannomatosis: NF1, NF2, SMARCB1, and LZTR1. This targeted approach ensures that the genetic testing is comprehensive and relevant to the patient's clinical presentation.

The CGPH test utilizes next-generation sequencing technology to detect single nucleotide and copy number variants within the selected genes. This advanced method allows for precise identification of pathogenic variants that may be responsible for the patient's symptoms. By customizing the gene panel, healthcare providers can avoid redundant testing and focus on the most relevant genetic markers, thereby improving the accuracy and efficiency of the diagnostic process.

Identifying a pathogenic variant through the CGPH test can significantly impact the patient's diagnosis, prognosis, and clinical management. It provides valuable information for familial screening and genetic counseling, helping family members understand their potential genetic risks. The ability to customize the gene panel to the patient's specific needs exemplifies the personalized approach to genetic testing at Mayo Clinic, ensuring that each patient receives the most appropriate and effective care for their condition.

Support system

The patient’s story is a testament to the power of resilience and the importance of seeking comprehensive medical care. She says her experience at Mayo Clinic has been transformative and has provided her with the diagnosis and support she needed to move forward with her life.

"I feel like Mayo Clinic really cared about me and wanted to find out what was wrong," she says. "They didn't just treat me as a set of symptoms; they treated me as a whole person."

Looking ahead, the patient remains hopeful about her future. She continues to stay informed about her condition and new developments in treatment, with the support of her family and healthcare team. "It's my job to keep up on things," she says. "I'm still figuring out the best way to stay informed, but I know it's important."

Her medical journey has also inspired her to share her story and offer advice to others facing similar challenges. "It's important to grieve and go through that process," she says. "But it's also important to stay productive and find ways to adapt to your new situation. Give yourself grace, but don't get stuck in the misery of it."

By sharing her story in this space, the patient hopes to inspire others to seek the care they need and to never give up on finding answers. "If my story can help someone else get the right diagnosis and treatment sooner, then it's worth sharing," she says. "I want others to know that there is hope and that they are not alone."

The patient’s journey is a testament to the advancements in diagnostic testing taking place at Mayo Clinic and the importance of comprehensive care. It also highlights the critical role of genetic testing and the expertise of dedicated healthcare providers in diagnosing and managing complex medical conditions.

Learn more about Mayo Clinic Laboratories’ custom gene panel testing, here.