“When a patient comes back to see me and tells me that the last changes in the treatment led to a very good result, it makes it all worth it. That the seizures are much better controlled now and that he/she can enjoy life much better now.
My name is Dr. Danielle Andrade and I am a neurologist with associations at both the University of Toronto and Krembil Research Institute. I specifically work with individuals suffering from epilepsy but especially have an interest in the genetic component regarding the disorder. In fact I am the founder and director of the Krembil Neuroscience Epilepsy Genetics Program and the director of the Epilepsy Transition Program. As mentioned before I am affiliated with UofT as part of the medical faculty and teach medical students, residents and fellows.
I personally think that an impactful moment in my career was when one of my patients had her seizures reduced so much that she could go for the first time to Disneyworld, at the age of 20. This specific patient had a genetic form of epilepsy and also had intellectual disability and autism. Although from a young age this patient was able to seek out the best medical and professional help available, many healthcare professionals still could not find the actual cause of her disorder because the technology for identifying the genetic mutation was not available when she was young. However, after visiting me, due to a significant improvement in the quality and accessibility of new technology, the cause of this individual’s epilepsy was determined. With that, an effective treatment option was provided which improved some of her symptoms immensely. Only at that stage, after the correct diagnosis was made and the medications were changed, her seizures decreased in frequency such that her parents felt they could finally take her to Disneyworld.
Although there have been improvements in the field, I still have a goal to continue to help more patients battling epilepsy, especially adults with childhood-onset epilepsies. It is important to re-investigate these patients with the current genetic technology to improve diagnosis of rare forms of epilepsy and consequently healthcare professionals such as myself can then choose the most appropriate and efficacious treatment for the patient. I also have a goal to continue to teach other neurologists about genetic epilepsies so that they can help future patients with different genetic forms of the disorder.
In terms of a possible change in the healthcare system, I wish to make genetic testing more accessible to all individuals with a possible diagnosis of genetic epilepsy. Genetic testing can cost up to $5,000 depending on the complexity of the actual test and takes an upwards of weeks to a couple of months to have the results back. This time and financial constraint means that some individuals are not receiving the diagnosis and therefore, the treatment needed. Consequently, having more accessible genetic testing allows individuals to treat the disorder early on so that they can enjoy a life with reduced symptoms."
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