According to an article recently completed by News Wise, tuberous sclerosis complex, otherwise known as TSC, is a rare genetic disorder, which causes nonmalignant tumors to form in many different locations, including the brain, eyes, kidneys and the heart. In the case of tumors forming in the brain, the condition can cause seizures, developmental delays, intellectual disabilities and autism. Although the condition is deemed ‘rare,’ it affects one out of every twenty five thousand children born, affecting an estimated fifty thousand people in the United States. This statistic may be low, though, as the lack of distinct physical aliments makes the disorder difficult to diagnosis properly. The severity of the disorder varies as well; some are able to live independent lives well into adulthood, while others are in constant need of care.
According to Nikolas Mata-Machado, MD, pediatric neurologist at the Loyola University Health System and assistant professor in the departments of neurology and pediatrics at Loyola University Chicago Stritch School of Medicine, the lack of clear symptoms is certainly an issue in collecting accurate statistics on the disorder. One of the few physically distinct symptoms that are often present in those suffering from TSC is a series of white spots on the skin. Unfortunately, these spots are so tiny, they cannot be seen by the naked eye. Occasionally, TSC will result in abnormal growth of the heart muscle that can be detected in an ultrasound during the pregnancy. However, other than that, there are few clear symptoms that mean a distinct diagnosis of TSC, making it very difficult for pediatric neurologists to know that a different type of treatment might be necessary.
Treatment in general for TSC is a difficult task, even if the correct diagnosis is established. Mata-Machado suggests parents with a child affected by TSC seek out a facility with a multidisciplinary team, due to the fact that the disorder has the potential to affect so many different vital areas of the body. In particular, Mata-Machado suggests a clinic with the following departments: nephrology, cardiology, pulmonology, hepatology and neuropsychology, to insure full treatment is available to the child in question. As for addressing TSC itself with treatments, options are limited, according to Mata-Machado. His team is currently attempting to use a method similar to chemotherapy, which has been shown to cause the tumors to shrink. He also notes some surgical options and has found that some anti-seizure medications work on cutting back the seizures brought on by tumors in the brain.
Regardless of treatments and their level of success, a physician must monitor the individual regularly throughout their entire life, as complications can arise very quickly. Some issues can be very serious, to the point of fatality, if they remain untreated. Fortunately, regular advances in medicine have extended the longevity associated with the disorder, as well as the level of quality of life.
from Kathleen Berry-Hebert http://ift.tt/1sgBXwQ
kathleenberryhebert 