Tuberous Sclerosis: Managing Symptoms and Medication Effects - Rare Disease

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Tuberous sclerosis complex (TSC) is a genetic disorder characterized by the growth of benign tumors in various organs, including the brain, skin, kidneys, and heart. It is caused by mutations in either the TSC1 or TSC2 genes, which are responsible for regulating cell growth and division. The symptoms of TSC can vary widely among individuals, and they can change over time. In your case, your son has experienced seizures and has been on antiepileptic medication since the diagnosis at the age of four.
It's encouraging to hear that his absence seizures have resolved, but the new symptoms you describe—such as unexplained pain in his legs, instability while walking, tremors while sitting, and difficulty with fine motor skills—are concerning and warrant further investigation.
First, it's important to consider the potential side effects of long-term antiepileptic medications. Common side effects can include dizziness, fatigue, and coordination problems, which might contribute to his instability and falls. Some medications can also affect bone health, leading to an increased risk of fractures or pain. If he is on a specific medication, it would be beneficial to review the side effects associated with that drug.
Additionally, the symptoms you describe could also be related to the underlying effects of TSC itself. TSC can lead to neurological issues, including developmental delays and motor coordination problems, which might explain the difficulty with walking and fine motor tasks. The presence of subependymal giant cell astrocytomas (SEGAs) or other brain lesions associated with TSC can also contribute to neurological symptoms.
Given that your son is experiencing these new symptoms, it is crucial to consult with his healthcare provider, ideally a neurologist who specializes in TSC. They may recommend imaging studies, such as an MRI, to assess for any changes in the brain that could be contributing to his symptoms. Additionally, they may evaluate his current medication regimen to determine if adjustments are needed or if alternative treatments could be more beneficial.

Physical therapy might also be a valuable resource for your son. A physical therapist can work with him to improve his balance, coordination, and strength, which may help reduce the frequency of falls and improve his overall mobility. Occupational therapy can assist with fine motor skills and daily activities, helping him gain more independence.

In summary, while the resolution of his seizures is a positive development, the new symptoms you describe should not be overlooked. It is essential to work closely with his healthcare team to monitor his condition, adjust medications if necessary, and explore supportive therapies that can enhance his quality of life. Your proactive approach as a parent is vital in ensuring he receives the best possible care and support.