Friday, December 26, 2014

"Help is on the way, dear!" (Perhaps)

That line is from a favorite movie scene of mine - which also happens to have helped save C.'s life several years ago. She was choking on a piece of zucchini, and had turned totally blue in the face. I had never before used the Heimlich maneuver. But my memories of Robin Williams in the scene below guided me perfectly. After numerous strong yanks just like Williams' character did, the zucchini popped out.

That help may be on the way via these two items that I stumbled on.

The first one
A research study is underway to shed light on Sudden Unexplained Death in Epilepsy (a.k.a. SUDEP). I was unaware that epilepsy could kill until Anna Conte, aged 9, whose parents were instrumental in New York's legalization of medical marijuana, died of "complications from epilepsy".  Although the law was passed in June 2014, one month before Anna's death, it won’t go into effect for 18 months. Anna's parents had planned to move to Colorado so that Anna, who had Dravet Syndrome, could receive the drug there until it became available in New York.

The late Anna Conte with her mother
The next I heard of SUDEP was while frittering away time reading about Chris Cooper, who played a supporting role in one of the best movies ever made, "August: Osage County".

Among other interesting details (e.g. he's been married to only one woman, an actress too, and for 31 years!), I learned that his only child, born with CP, died at age 18 of SUDEP.

Now linked to SIDS, SUDEP remains "one of the most enigmatic phenomena in all of medicine".  This week the National Institute of Neurological Disorders and Stroke announced that it will spend $5.9 million this year on eight academic research projects on SUDEP.

The second one

Cited in the same Medpage round-up as the first was a clipping from this month’s BMC Neurology. It’s about an open-label pilot trial of minocycline - an antibiotic - as a treatment for children with Angelman syndrome.  A type of tetracyclin, it has a low risk of adverse effects and an ability to improve behavioral performance in humans with cognitive disruption.

Holy moly! This sounded too good to be true. A treatment for cognitive impairment?  Why isn't it front page headlines? Why aren't neurologists doling it out like candy?  After all,  it’s prescribed for acne, urinary tract infections among other ailments so why this hesitation about trying it our on our children? Even those who don’t have Angelman’s? (The doctors actually suspected C. had this syndrome but the test results were negative.)

Here is an extract from the study abstract:
Results: Significant improvement in the mean raw scores of the BSID-III subdomains communication and fine motor ability as well as the subdomains auditory comprehension and total language ability of the PLS-IV when baseline scores were compared to scores after the washout period. Further, improvements were observed in the receptive communication subdomain of the VABS-II after treatment with minocycline. Finally, mean scores of the BSID-III self-direction subdomain and CGI scale score were significantly improved both after minocycline treatment and after the wash out period.

Conclusion: The clinical and neuropsychological measures suggest minocycline was well tolerated and causes improvements in the adaptive behaviors of this sample of children with Angelman syndrome. While the optimal dosage and the effects of long-term use still need to be determined, these findings suggest further investigation into the effect minocycline has on patients with Angelman syndrome is warranted.
But why wait for further study results? The side effects of this drug are a joke compared to the ones we risk with all those anti-epileptics. As our pediatric neurologist told us when we inquired about trying cannabis: “What have you got to lose?

I intend to sound her out about this drug at our next visit. Meanwhile if any of you has tried this with your child, can you please let me know the upshot?


Elizabeth said...

I'm surprised that you hadn't heard of SUDEP before now. The people who really brought it to life are in Great Britain -- and it only slowly was recognized here in America. There's always been debate in the epilepsy world on whether it's something to be discussed early in diagnosis. I, for one, am committed to advocating for as much information as possible, and certainly if epilepsy carries a death risk (however small), one should be aware of it. That being said, I'm sensitive to some people not wanting "too much information," particularly when there's no "treatment" or "cure."

The antibiotic treatment for Angelman is so interesting. I will have to ask my friend whose daughter has it whether she's heard of it. I know that the gut/brain connection is immense and that there's been much researched and discovered for autism.

The Sound of the Silent said...

Elizabeth, SUDEP is not the only important item about which I was ignorant for a long time. An awful lot flies by me; much of it highly relevant.

For instance, SOMA and Rapid Prompting Method which you just mentioned. It sounds fascinating and I've begun reading up on it to fill in that gap.

And what a beautiful reading experience you had with Sophie! I still read to C. during most of her meals. It's an activity I introduced after your blog post a few months back describing the pleasure Sophie gets from listening to good literature. (I remember you wrote that her aide said Sophie actually smiles while he reads to her.)