Refractory epilepsy - where do we go from here?

Hi, I'm the mother of an 11 year old daughter who has refractory (drug resistant) epilepsy and is on the autistic spectrum. My daughter was diagnosed with epilepsy at the age of 5, which was controlled by medication for two and a half years. Drugs were withdrawn, believing that her epilepsy had gone into remission. Six months later, seizures returned and were more varied and frequent, resulting in her being diagnosed with refractory epilepsy. She has just finished two years of ketogenic dietary therapy with mixed success. Because her seizures are generalised, we have been told by her consultant at Addenbrooke's that surgery isn't an option, neither is VNS. The drug zonisamide has been suggested as the next option but in the same breath, our consultant has said it's unlikely to have any benefit. I'm not sure whether our consultant is particularly pessimistic or realistic but I'd like to feel more positive about the future than I currently do. Has anyone had a similar experience with lack of available and creative treatment for refractory epilepsy? Thanks.

3 Replies

  • Our 9 year old son is also seen at Addenbrooks and has LGS. Nothing has really worked for him not even the Ketogenic Diet which is a shame as he took to it really well. He is going to GOSH next month to see if he is a canditate for surgery but our consultant said it's highly unlikely but we still want to explore that route first. We have been given VNS as the last option. Our son is also Autistic. We also had the same as our son was fit free for two years and 6 months later he ended up ITU. I really wish there was something out there for everyone one with Epilepsy to control their sezuires.

  • It's hard to know whether one persons experience can help another when it took me decades to realise that we're all unique individuals.

    I was originally diagnosed with Temporal Lobe petit-mal epilepsy in 1969 when a teenager. My parents thought, at that time Doctors were doing their best but medicine has advanced greatly over recent decades.

    Three years ago my GP re-referred me to my Neurologist when my seizures became refractory.

    Two Neurologists believed it was due to the stress of experiencing 3 close bereavements within 5 years but I believe that no one knows their body better than their self. Because I had to read a lot about medicine and law, to eventually prove my late wife's erroneous death by a misdiagnosis, I learned the signs of vitamins and minerals deficiency.

    Despite my persistence I couldn't persuade any Doctor to test my Vitamin D levels and eventually tested privately where City Assays found my level "deficient" at just 34 nmols/L (range 75-125) and began self medicating with 5000 IU's of vitamin D3 with Cal-Mag 500 mg daily. Calcium and Magnesium are required to aid absorption. I retested 3 months later where City Assays proved my level was 96.8 nmols/L.

    Overall my health changed dramatically with seizures reducing from 4-5 daily to 2 (TWO) in 6 months.

    I had also been referred to a Rheumatologist to investigate tingling and numbness in the hands possibly Raynaud's or "Carpal Tunnel Syndrome", but with both results returning negative I was clinically discharged.

    I'll never know why I took the bull by the hands and paid for a Chiropractor to assess my condition. His x-rays of the spine revealed crumbling vertebrae that, in his opinion, were trapping nerves causing the tingling and numbness. With strict dietary and supplement regime my second set of x-rays, 14 months later proved 2 mm of new bone growth.

    There is a wealth of documentary evidence proving that anticonvulsants deplete our bodies stores of vitamins and minerals. I'll never forget the visit, and advice, of a private GP who advised me to up my omega 3's for stress.

    Unbelievably my GP discredited my Chiropractor's diagnosis because I never sought any pain relief prescriptions until I informed him about Magnesium's pain killing properties, and its vital role as a co-factor for over 300 enzymes

    I don't feel I've directly answered EpilepsyMum's query but hope my experience can help with pointers that we need to research our own health in addition to accepting a Doctor's well intended advice.

    Kind regards, Will

  • Is your consultant an epileptologist (neurologist who specializes in epilepsy)?

    I have two kinds of epilepsy that were finally controlled with medication, but I've done a substantial bit of research. I learned that doctors can't determine the cause for approximately 70% of seizures and that for approximately 30% of people, the seizures are never effectively controlled.

    However, throughout my research process, I developed a fairly low opinion of most doctors. At least the ones I ran into all professed to be knowledgeable, but then could not answer my questions.

    I learned not to automatically accept anything a doctor tells me. The one epileptologist I finally saw answered my questions and confirmed my research.

    Another thought: I live in Colorado, in the United States, where marijuana was just legalized. Many people with epilepsy are coming here and have found that a substance made from marijuana has effectively stopped their children's seizures. Here's an article about that.

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