Our mission is to shorten the patient journey for patients suffering from Tuberous Sclerosis Complex and all rare diseases.

Here at Patient Journeys we uncover real patient experiences by conducting surveys with real patients and their caregivers. This information is then shared with everyone who participated in an aggregate report. Why? Because we are parents of children with rare diseases. We know first hand how difficult a rare disease journey can be. Along our own journeys we learned those who lived the journey before us had knowledge that could have helped but this knowledge was trapped. Our mission is to shorten the patient journey for everyone.

The patient journey for individuals with tuberous sclerosis complex (TSC) can vary widely depending on factors such as the severity of symptoms, the organs affected, and individual responses to treatment. However, there are several common stages and experiences that many people with TSC and their families may encounter throughout their journey:

1. Diagnosis:

The journey often begins with the diagnosis of TSC, which can occur at any age, from infancy to adulthood. Diagnosis may occur following the appearance of characteristic symptoms, such as seizures, skin abnormalities, or developmental delays, prompting medical evaluation and testing. In some cases, TSC may be suspected prenatally based on ultrasound findings or a family history of the condition.

2. Initial Assessment and Management:

After a diagnosis of TSC is confirmed, individuals typically undergo a comprehensive assessment to evaluate the extent of the condition and any associated complications. This may involve various medical specialists, including neurologists, dermatologists, nephrologists, cardiologists, and genetic counselors. Treatment plans are then developed based on the specific needs and symptoms of each individual.

3. Ongoing Monitoring and Treatment:

Once a treatment plan is established, individuals with TSC require regular monitoring to assess their response to treatment, monitor disease progression, and manage any new symptoms or complications that may arise. This often involves frequent medical appointments, imaging studies (such as MRI or CT scans), and laboratory tests to track the status of tumors, seizures, and other manifestations of TSC.

4. Multidisciplinary Care:

Managing TSC often requires a multidisciplinary approach involving coordination among various medical specialties. Individuals with TSC may receive care from neurologists, epileptologists, dermatologists, nephrologists, pulmonologists, cardiologists, developmental pediatricians, and other specialists, depending on their specific needs and symptoms. This collaborative approach ensures comprehensive care that addresses all aspects of the condition.

5. Support and Advocacy:

Living with TSC can present significant challenges for individuals and their families, both emotionally and practically. Support groups, patient advocacy organizations, and online communities can provide valuable support, information, and resources for individuals with TSC and their caregivers. These networks offer opportunities for education, peer support, and advocacy to help navigate the complexities of the condition and access appropriate care and services.

6. Transition to Adulthood:

As individuals with TSC transition from childhood to adulthood, their healthcare needs may evolve, requiring adjustments to their treatment plans and support systems. Transition planning should address issues such as healthcare autonomy, vocational and educational opportunities, social integration, and long-term medical management. Pediatric providers, adult specialists, and transition coordinators play key roles in facilitating this process and ensuring continuity of care.

7. Research and Advances:

Advances in medical research and understanding of TSC continue to improve outcomes and quality of life for individuals affected by the condition. Participation in clinical trials and research studies may offer access to novel treatments and contribute to the advancement of knowledge about TSC and its management. Ongoing collaboration between researchers, clinicians, and affected individuals is essential for driving progress in the field and ultimately finding a cure for TSC.

Conclusion:

The patient journey for individuals with tuberous sclerosis complex is characterized by ongoing medical management, multidisciplinary care, support, and advocacy. While living with TSC presents unique challenges, advances in diagnosis, treatment, and support services have significantly improved outcomes and quality of life for affected individuals and their families. A holistic approach to care that addresses the diverse needs of individuals with TSC, from infancy through adulthood, is essential for optimizing outcomes and promoting well-being.

Treatment for tuberous sclerosis complex (TSC)

Treatment for tuberous sclerosis complex (TSC) focuses on managing symptoms and complications associated with the disorder. Since TSC can affect various organs and systems in the body, a multidisciplinary approach involving different medical specialties is often necessary to provide comprehensive care. Here are some of the available treatments for TSC:

1. Seizure Management:

Seizures are a common symptom of TSC, affecting the majority of individuals with the condition. Antiepileptic medications are typically used to manage seizures and reduce their frequency and severity. The choice of medication depends on factors such as the type of seizures and individual response to treatment.

2. Behavioral and Developmental Interventions:

Many individuals with TSC experience developmental delays, learning disabilities, and behavioral challenges, such as autism spectrum disorder (ASD) or attention deficit hyperactivity disorder (ADHD). Early intervention programs, educational support, speech therapy, occupational therapy, and behavioral therapies can help address these issues and promote optimal development and functioning.

3. Surgery:

Surgery may be necessary to remove tumors or treat complications related to TSC. For example, surgery may be performed to remove cortical tubers or subependymal giant cell tumors (SEGAs) in the brain if they are causing seizures, hydrocephalus, or other neurological problems. In some cases, kidney tumors (angiomyolipomas) may require surgical intervention if they are large or causing bleeding or other complications.

4. Medications for Specific Symptoms:

Depending on the specific symptoms and complications experienced by an individual with TSC, various medications may be prescribed to manage those symptoms. For example:

• Angiomyolipomas: Medications such as everolimus, an mTOR inhibitor, may be used to shrink kidney tumors and reduce the risk of bleeding or other complications.
• Lymphangioleiomyomatosis (LAM): LAM, a progressive lung disease associated with TSC, may be treated with medications such as sirolimus or everolimus to slow disease progression and improve lung function.
• Cardiac rhabdomyomas: While cardiac tumors in TSC often regress on their own, medications may be prescribed to manage associated cardiac complications such as arrhythmias or heart failure.

5. Genetic Counseling:

Genetic counseling is an essential component of TSC management, especially for individuals and families affected by the condition. Genetic counselors can provide information about the inheritance pattern of TSC, discuss the implications of genetic testing results, and offer guidance on family planning and reproductive options.

6. Supportive Therapies:

In addition to medical treatments, supportive therapies and interventions play a crucial role in managing TSC and improving quality of life for affected individuals. This may include physical therapy, psychotherapy, social support services, and educational support tailored to the specific needs of individuals with TSC and their families.

Conclusion:

While there is currently no cure for tuberous sclerosis complex, advances in medical understanding and treatment options have significantly improved outcomes and quality of life for individuals affected by the condition. A comprehensive approach to care, including early intervention, multidisciplinary collaboration, and individualized treatment plans, is essential for optimizing outcomes and addressing the diverse needs of individuals with TSC. Ongoing research into the underlying mechanisms of TSC and the development of new therapeutic strategies offer hope for further advancements in the management of this complex disorder.