More Postcards

I continue to be contacted by parents from every corner of the world desperately seeking help for their children.  Most recently the e-mails have come from Israel, Rumania, and in the States from California.  Many of the e-mails ask if there are any new treatments that have recently become available.  Rituximab is frequently mentioned.  This drug is used to treat some forms of cancer and auto-immune diseases.  Its use in RE seems to be increasing, but anecdotal evidence from the families is that it is not a cure or a long term solution for RE.  Additionally, medical marijuana, CBD is another topic of interest.  I am not aware of a RE family that has tried CBD.  As far as I know most of the trials now underway in epilepsy are for Dravet Syndrome.  The incidence of RE, the difficulty of its diagnosis, and the wide dispersion of its patients unduly complicates any type of clinical drug trial.  One drug that several researchers are interested in trying for RE is Tysabri.  This drug is not well known by the neurology community, but the MS (multiple sclerosis) researchers and doctors believe it may help RE.  One issue is that Tysabri has been associated with PML, a lethal condition, but I am told in the hands of skilled and experience physicians this extreme risk can be practically eliminated.  Another issue is that Tysabri is expensive and not approved for treatment for RE making insurance reimbursement impossible.  Its manufacturer, Biogen has refused to make the drug available for compassionate use and has turned down leading RE researchers in both Germany and the US.

Another topic that arises in the e-mails relates to the experience of the physicians involved in the treatment of their children.  While we all respect our medical doctors, it is critical that a parent be a powerful advocate on behalf of their kids.  RE is extremely rare and treatment should only be administered by a neurologist that has experience with the disease.  In several instances the families are being treated by neurologists that have not previously treated RE.  In these cases we work to obtain second opinions which requires that a parent keep a complete medical record of the child’s treatment.  Equally important is to consider the appropriate experience of your neuro-surgeon to perform a hemispherectomy.  A dozen cases may not be enough and certainly over 150 cases is more than enough, but there probably is no magic number to answer this question, yet this is a conversation that should not be avoided with your surgeon. 

We continue to push forward with our research agenda.  UCLA led by Dr. Gary Mathern continues to be at the forefront of RE research efforts.  Their primary efforts are focused on creating an animal model for RE.  Here is a summary of their work from a recent report,

 “Seizure activity in mice could be triggered by the human T cells attacking the grafted human neural tissue, causing an inflammatory reaction that alters the activity of surrounding mouse neurons or as a result of a direct attack on mouse neurons. The team has identified two types of infiltrating T cells in the brain tissue of RE patients. One of these types of T cells, termed a gamma delta (γδ) T cells, could recognize and attack mouse brain cells if those cells expressed a component that is identical to one found on human brain cells. Either scenario would directly link seizures to the T cells, proving that RE is an autoimmune disease, and providing a pre-clinical model to test different anti-inflammatory treatments.” 

Please contact me if you are interested in seeing the full report from UCLA. 

Additionally, please consider donating to the RE Children’s Project.  Due to the “success” of the hemispherectomy surgery, we do not have a natural base of financial support amongst the families and for many a cure would be too late.  This is in fact my case. My 17 year-old daughter confronts on a daily basis the aftermath of her drastic surgery.  Driving a car, participating in sports, going to the mall with friends—these typical activities of a teenager will never be a part of her life.  We rely on your donations to help us make a difference in the research of this rare epilepsy that holds so many clues to the other epilepsies as well other inflammatory conditions.  


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