A year and a half into our rare disease journey, and I could go toe-to-toe with some of the most intelligent medical experts in the field. In fact, I have. I needed to. If I didn’t, Brett wouldn’t be where he is today. The day that Brett received his ultra-rare diagnosis of Hypothalamic…
There are many tools a physician can use to diagnose a patient with epilepsy. With all these options, you would think it would be easy to find the answers they are looking for. Let me fill you in on a little secret about diagnostic testing. Testing is often used to rule out a specific diagnosis.…
Hypothalamic Hamartomas can be very difficult to diagnose for many reasons. Gelastic seizures may be misinterpreted as normal childlike behavior or laughter. They may also be diagnosed as colic, or acid reflux, and sometimes they may be thought to be autistic tendencies or simply something unexplainable – as in just a quirky child! One of…
AAN & AES endorse a New Clinical Guideline on SUDEP The American Academy of Neurology and the American Epilepsy Society recently published a practice guideline providing recommendations for neurologists to inform all individuals with epilepsy about the risk of sudden unexpected death due to epilepsy (SUDEP), the most common cause of mortality for people with epilepsy. Every patient…
What is rs-FMRI? And why is it relevant to HH? Hear how Dr. Varina Boerwinkle, Pediatric Neurologist, Director of Resting State Functional MRI, Texas Children’s Hospital is using resting state functional MRI at Texas Children’s Hospital to better target HH for surgery like laser ablation. More than 70 patients have been tested. You can listen to…
