This is the first blog post in a series that will share some of our experiences with deep brain stimulation (DBS)*, which is beginning to receive more attention for treating symptoms of movement disorders caused by rare and genetic diseases.
Early in our rare disease journey I'd come across the work of Dr. Terence Sanger, a child neurologist at Children's Health Orange County (CHOC) who specializes in movement disorders. I was intrigued with his research and wanted to see if he could help the boys. We first visited him in early 2016 when he was at Children's Hospital Los Angeles, and were very impressed with his thorough examination and attention to the boys, and the relatable way he talked with us about their challenges.
Though Dr. Sanger wasn't able to provide a diagnosis (MEPAN wasn't discovered until later that year) he encouraged us to apply to the NIH’s Undiagnosed Diseases Network (UDN), where the boys received their MEPAN diagnosis at Stanford in 2018 after a battery of visits and further testing. Around the time we first met with Dr. Sanger he was just beginning to implement his method of DBS for treating children with dystonia.
DBS has been used to treat adult patients with Parkinson's disease for over 20 years, but it's still considered "new" in treating children with movement disorders. Essentially it is a "pacemaker for the brain" that is implanted in a patient's chest that is connected to wires implanted via a surgical robot into areas of their brain that are not functioning properly, and uses an electrical current to override the abnormal signals that are thought to cause the patient's abnormal movements. It's found that DBS can improve their symptoms in ways that medications often don't, and it can make voluntary movement easier over time.
Dr. Sanger and the CHOC team use a three-phased approach for DBS in children that is not done anywhere else in the world. Patients first undergo surgery to place temporary wires in the brain, which are then used to test patient response to the neurostimulation over several days in the hospital neuromodulation unit. This allows for optimal placement of wires that will be permanently implanted in a second procedure. Since the technique uses four wires instead of two, there are more options for tailoring the treatment for each patient's unique brain anatomy and their individual movement disorder. This is something that researchers and clinicians are striving for in treating rare diseases - truly personalized medicine.
In the next posts I'll share more about making the decision to try DBS for the boys, our experiences during their surgeries and testing, and what we've seen since they had their neurostimulators implanted.
**While DBS is a viable treatment option for patients and families to consider, it is not part of the MEPAN Foundation research agenda. No donations to our organization went towards these procedures, which were approved and paid for through our health insurance provider.