Surveillance & management

During infancy through young adulthood seizures and subependymal giant cell astrocytoma (SEGA) dominate much of the medical journey. Seizures are still problematic for many and unfortunately several have developed refractory epilepsy that will remain challenging to manage indefinitely until we have better knowledge and resources to assist with this manifestation. EEGs will still be a common diagnostic approach routinely and for atypical changes such as changes in seizure type or frequency, change in behavior, unexplained sleepiness or vomiting. During this age span, a pediatric neurologist who is familiar with TSC should be part of your child’s healthcare team. Epilepsy (seizures) is frequently the main manifestation of TSC that leads to the diagnosis but not always. Even if your child presented with a TSC diagnosis and has not shown any signs of seizures, it is still clinically recommended to be evaluated during this phase as signs and symptoms of TSC change rapidly during these years due to normal growth and development. Learn more about epilepsy in TSC here.

Kidney (renal) manifestations such as cystic disease and renal angiomyolipomas continue to grow throughout this part of the lifespan. Not only is your loved one aging, in which chronic kidney disease tends to manifest in general adulthood, but the progression of TSC-specific manifestations and long-term medication use all contribute to factors that place your loved one at risk for chronic kidney disease and/or hypertension. Surveillance with MRI of the abdomen is still recommended every 1 to 3 years during this timeframe. Ideal diet, daily exercise and maintaining an optimal blood pressure are essential for not only general and cardiovascular health purposes but also to minimize declining renal function.

Individuals with TSC are at a higher risk of developing lymphangioleiomyomatosis (LAM). LAM is a rare lung disease that affects women more often than men, usually between the onset of puberty and menopause. It can cause shortness of breath or other complications such as recurrent lung collapse. Treatments for LAM can include medication (Rapamune®, sirolumus), oxygen therapy or lung transplantation in very advanced diseases. Ongoing screening and management are recommended throughout the lifespan. Proactively understanding symptoms that should be reported to the clinical team would include connective tissues disease symptoms, chyle leak, dyspnea, cough or experiencing spontaneous pneumothorax. Should these symptoms arise and are not explained by other factors, you should notify the TSC specialist for further recommendations.

The LAM Foundation has excellent resources and support for those looking for additional information on LAM.

The common pediatric manifestation of cardiac rhabdomyomas is known to regress over time from birth. However, some individuals with TSC will continue to have small evidence of these lesions throughout adulthood. There is not sufficient evidence to know if these lesions cause issues during adulthood; however, one problematic issue that can occur is irregular heartbeats known as cardiac arrhythmias or conduction defects. One arrhythmia that has been well documented within the literature is Wolfe-Parkinson-White Syndrome (WPW Syndrome). Because of these potential possibilities diagnostic testing such as echocardiogram (ECHO) and electrocardiogram (EKG/ECG) should be completed every 1 to 3 years for those who do have symptoms. Those who do will most likely have more frequent follow-up and diagnostic surveillance that your cardiologist feels necessary.

Most of these manifestations do not cause life-altering problems. However, facial angiofibromas do start to grow during this part of the lifespan. At times they can become painful and cause recurrent bleeding concerns and rarely, nasal airway obstruction. First-line treatment recommendation focuses on mTOR inhibitor treatment. In 2022, the FDA approved the first topical rapamycin gel for those diagnosed with facial angiofibromas. During adolescence ungual fibromas (lesions that grow in fingernails or toenails) can also start appearing. If those become problematic or bothersome, surgical removal can be completed by a dermatologist. It is recommended to continue to have annual ophthalmic evaluations to assess for visual impairments. If your child experiences a sudden loss of vision of any sort, double vision, blurry vision or a sudden onset of significantly elevated blood pressure, you should notify the local medical team immediately. As with the eyes, teeth manifestations are another area that has not received much longitudinal surveillance from a research standpoint. We do know enamel pits remain an issue throughout the lifespan, so having your dentist preventively utilize sealants to minimize tooth decay is appropriate every 6 months. It is important to know oral fibromas can occur near the teeth or within the bony jaw, and these should be treated with surgical excision or curettage when present.

During infancy through young adulthood seizures and subependymal giant cell astrocytoma (SEGA) dominate much of your medical journey. At this point (>27 years of age), it is not as common to develop epilepsy if you have not already done so. SEGAs at this point typically do not grow or become problematic. However, if you or your adult child had ventricular enlargement due to a SEGA and have remained asymptomatic, you should continue with MRI imaging of the brain periodically, but not as frequent as it was during earlier in life where rapid growth and development were still occurring.

Seizures are still problematic for many and unfortunately several have developed refractory epilepsy that will remain challenging to manage indefinitely until we have better knowledge and resources to assist with this manifestation. EEGs will still be a common diagnostic approach routinely and for atypical changes such as changes in seizure type or frequency, change in behavior, unexplained sleepiness or vomiting. For those who were never able to achieve seizure control during their younger years, this is also a time where notable neurocognitive damage will be permanent if all interventions have failed.

Kidney (renal) manifestations such as cystic disease and renal angiomyolipomas continue to grow throughout this part of the lifespan. Not only are you/your loved one aging, in which chronic kidney disease tends to manifest in general adulthood, but the progression of TSC-specific manifestations and long-term medication use all contribute to factors that place you or your loved one at risk for chronic kidney disease and/or hypertension. Surveillance with MRI of the abdomen is still recommended every 1 – 3 years during this timeframe. The goal is to be preventative and proactive to decrease progressing to end-stage renal disease, which will be covered later in this section. Ideal diet, daily exercise and maintaining an ideal blood pressure are essential for not only general and cardiovascular health purposes but also to minimize declining renal function.

End-stage renal disease (ESRD) is when your kidneys permanently stop working and require long-term dialysis or a kidney transplant to maintain life. While ESRD is rare in TSC, chronic kidney disease is not. Chronic kidney disease takes several decades to decline to the point of ESRD. Those with TSC and polycystic kidney disease (PKD) are at a much higher risk of kidney failure over their lifespan. Proper kidney care is essential to preserve renal function. Great ways to proactively protect your kidneys include careful blood pressure management, prevention of protein in the urine (proteinuria) and a healthy diet. Over time, interventions like reoccurring embolization, nephrectomies, renal hemorrhages and acute illnesses can take a toll on kidney function. If you find yourself in a situation and your healthcare provider starts to discuss dialysis or renal transplant in your future, the Kidney Foundation and PKD Foundation have excellent resources to help you make more informed decisions.

Individuals with TSC are at a higher risk of developing lymphangioleiomyomatosis (LAM). LAM is a rare lung disease that affects women more often than men, usually between the onset of puberty and menopause. It can cause shortness of breath or other complications. Treatments for LAM can include medication (Rapamune®, sirolumus), oxygen therapy or lung transplantation in very advanced diseases. Ongoing screening and management are recommended throughout the lifespan. You or your loved one can continue to consciousness choices such as, smoke cessation, minimize occupational exposures and avoid routine use of exogenous estrogen (birth control) or doxycycline for the treatment of LAM. Diagnostics testing and imaging should be utilized every 1 – 3 years or more frequent pending your unique situation. Proactively understanding symptoms that you should report to your clinical team would include connective tissues disease symptoms, chyle leak, dyspnea, cough, or experiencing spontaneous pneumothorax. Should you or your loved one have these symptoms and are not explained by other factors, you should notify your TSC specialist for further recommendations.

The LAM Foundation has excellent resources and support for those looking for additional information on LAM.

Typically during adulthood the common pediatric manifestation of cardiac rhabdomyomas has completely regressed. However, some individuals with TSC will continue to have small evidence of these lesions throughout adulthood. There is not sufficient evidence to know if these lesions cause issues during adulthood; however, one problematic issue that can occur is irregular heartbeats known as cardiac arrhythmias or conduction defects. One arrhythmia that has been well documented within the literature is Wolfe-Parkinson-White Syndrome (WPW Syndrome). Because of these potential possibilities diagnostic testing such as echocardiogram (ECHO) and electrocardiogram (EKG/ECG) should be completed every 1 – 3 years for those who do have symptoms. Those who do will most likely have more frequent follow-up and diagnostic surveillance that your cardiologist feels necessary. There are no specific TSC guidelines for these manifestations, which are managed the same as the general public experiencing these same symptoms.

Most of these manifestations do not cause life-altering problems. However, facial angiofibromas do continue to grow throughout this part of the lifespan and can become painful and cause recurrent bleeding concerns and rarely, nasal airway obstruction. First-line treatment recommendation focuses on mTOR inhibitor treatment. In 2022, the FDA approved the first topical rapamycin gel for those diagnosed with facial angiofibromas. Ungual fibromas (lesions that grow in your fingernails or toenails) can also increase during adulthood. If those become problematic or bothersome, surgical removal can be completed by a dermatologist.

At this time, there is not sufficient research or literature to support retinal changes that occur in the aging adult with TSC. Therefore, it is recommended to continue to have annual ophthalmic evaluations to assess for visual impairments. If you or your loved one experience a sudden loss of vision of any sort, double vision, blurry vision or a sudden onset of significantly elevated blood pressure, you should notify your local medical team immediately.

As with the eyes, teeth manifestations are another area that has not received much longitudinal surveillance from a research standpoint. We do know enamel pits remain an issue throughout the lifespan, so having your dentist preventively utilize sealants to minimize tooth decay is appropriate every 6 months. It is important to know oral fibromas can occur near the teeth or within the bony jaw, and these should be treated with surgical excision or curettage when present.

Regardless of their disabilities, all children eventually become adults – both physically and legally. Transition planning is an intentional and coordinated process used to help students with disabilities transition from school to post-school life. Per IDEA, planning can begin as early as 14 years old and varies by state but must be implemented by 16 years old.

The transition plan is a part of the IEP and is a collaboration between the parent or guardian, student (when appropriate), special education teacher, regular education teacher, administrative representative (in some cases a school transition coordinator), vocational rehabilitation, counselor and/or someone from adult day services who may be part of the transition team.

Learn more about Educational Support from the TSC Alliance and contact our Support Navigators for addition help with Transition planning