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Tuesday, October 19, 2010


Hi there,

Ya gotta love the auto spell check feature -- it's fuzzy "brain" decided that when I typed "hypnogogic" I meant to type "spongecake". That's just too weird to wrap my head around when my head is still throbbing from the migraine I woke up with...

Geeze I stink at this! Sorry for the long silence. I hate to say that I've been too tired (or sick) to update regularly, but it's the truth. My apologies to those of you who have narcolepsy, I know my tiredness pales by comparison. It is a seldom discusses side effect of being partnered with someone who has narcolepsy, however. That interrupted sleep tends to be a shared experience. Add that to my lovely hot flashes (whoopee!) and the migraines and the sum = totally wiped out Trish.

And oh, yeah, I'm working (pro bono at present) -- getting ready to launch Health Advocacy Solutions' Medicare plan selection service in time for open enrollment. One might think that the totally snooze-erific reading I am doing to become our "Medicare Diva" would help me get and stay more rested, but no such luck ;o)

OK, a bit about Matt (since most of you are here because of his experiences with narcolepsy). He just recently returned home after attending the Narcolepsy Network meeting. His experiences there were pretty varied. There is a large population of people (primarily narcoleptics and a select few researchers) who are lobbying to exclude those who are hypocretin-normal from the diagnosis of narcolepsy. There are some pretty negative consequences associated with that decision, not the least of which is the potential that this will also exclude these narcoleptics from access to treatments for the disease.

So, Matt had a few rather "interesting" discussions with people at the meeting who think it is unfortunate that he "has been mis-diagnosed as narcoleptic". Many were surprised to be told that about 25% of narcoleptics do not have mutations in their hypocretin-producing neurons.

They do, however, tend to respond just as well as others to treatments for narcolepsy. They also experience attacks of cataplexy (historically considered a defining characteristic of the disease), excessive daytime sleepiness, hypnogogic hallucinations and sleep paralysis.

This could get messy; that's the reason Matt wanted me to stay home rather than attend. I'm not as patient as he is. I would probably not play nearly as nicely as he did with those who insist that he doesn't really have this disease that has devastated our family and decimated our lives.

More later, I'm still too angry about Matt's treatment to think (or type) straight.


  1. Welcome back Trish-good to see ya again :-) Take all the time you need to recoup. Please be patient if my narco brain is spewing a dumb question, but wouldn't the exclusion of hypocretin normal patients then dictate that every potential narco would need to have a spinal tap to determine hypocretin levels? I was diagnosed based on my MSLT results...thankfully no needles!
    Have a good one!

  2. Wow, I'm sorry he had such a rough experience. I was also at the meeting - my wife has narcolepsy, though she is also atypical, as she has no cataplexy. It's too bad that some people are trying to throw others out of the boat. It's a cruddy enough ride as it is. I guess they see any research time spent trying to help people like your husband will necessarily take away from the own prospects of improvement. But it seems to me, the more the researchers understand this whole class of disorders, the more likely they are to find treatments that help everybody.

    Good luck.

  3. Thank you both! And yes, hypocretin status is evaluated via a spinal tap. There are a number of neuroscients who research narcolepsy who recognize that measurement of hypocretin levels as a diagnostic will miss somewhere between 20-50% of narcoleptics. Unfortunately, the doctor who patented the hypocretin test is lobbying to make this the definitive diagnostic for the disease. Matt (who is also a neuroscientist) has read all of the literature and actually attended the meeting of the American Psychiatric Association this past spring to address the group responsible for reviewing the sleep disorders section for the update of the DSM IV and publication of the DSM V. He also wrote to the committee members, including a literature review that evaluated how many narcoleptics would lose the diagnosis if those who have normal hypocretin levels lose the diagnosis.
    The meeting wasn't a complete wash, and Matt met some wonderful people. Including a man with narcolepsy who is in his 70s! It was fun for him to chat with others who know what it is like to have this disease, including all the little weird bits, like the loss of sense of smell so many experience.
    Jeremy, you certainly hit on what Matt believes is the main issue for many: fear that research dollars will be spread even thinner if we admit there are multiple etiologies. But it is almost certainly better to research all of the causes of this disease. Studiying the hypocretin-normal pathway may actually provide very important information about the disease in those with the hypocretin mutation!

  4. I just found your blog... how interesting that it is primarily people with Narcolepsy that were at that meeting... kind of a "purity" mentality where you can't be part of the group unless____________.

    It is funny to consider the implications of their efforts to purify the population...

    Like you have already talked about- funding.

    What about the healthcare for those suddenly without a diagnosis? I don't have a definitive answer if I have cataplexy because some of what I deal with is in a murky area between decreased alertness and mild cataplexy BUT I am pretty sure my insurance would drop my Xyrem (at $36,000/ year) like a handful of burning hot coals.

    What about the cost to run the spinal-tap on all of those people?!

    And I am sure that additional polysonogams and MSLT's would be required for the un-pure ;)

    Yeah, the larger the population of sufferers, the better they all fare in the way of funding for research, insurance coverages, and training of doctors to treat them. Oh, and awareness and acceptance by the general public. Need I say more?!

  5. Thanks for the feedback -- it is nice to connect with others who "get it" about this wacko disease! What a strange ride we are all on. Lets eat some spongecake ;o)

    (spongecake, really? sheesh, I thought that auto-correct feature couldn't get any weirder. with a name like Frerking, you can guess how that gets "fixed".

  6. I'm guessing that the folks making the decisions about diagnosis are not geneticists. It is not unusual in the least to have the same phenotype be causes by more than one mutation in one gene if all of the genes impinge on the same pathway. The community will do itself a terrible disservice if they define the disease solely by its mutational (or lack thereof) status. I hope Matt's efforts have some effect on the debate.

  7. I was at the meeting as well, but was not involved in the discussions regarding how to define narcolepsy. I am a pediatrician and my daughter has narcolepsy with catalpexy. I agree with a broader definition of the condition. The analogy that I use is that of diabetes. Overall, diabetes is a condition in which your body is unable to regulate your blood sugar levels. However, there are different types, with different pathways involved. Type 1 is due to the body's inability to produce insulin (similar to hypocretin-deficient narcolepsy), while Type 2 is due to the body's inability to fully utilize the insulin which your body produces (?similar to hypocretin-normal narcolepsy). The clinical manifestations is the same, elevated blood sugar levels.

    The same hold true for people with narcolepsy. Regardless of the mechanism or pathway which leads to the condition, people with it exhibit excessive daytime sleepiness, hypnogogic hallucinations, sleep paralysis, automatic behaviors, with/out cataplexy. I think most physicians would base the diagnosis on clinical symptoms, in conjunction with appropriate sleep studies, not just an isolated spinal fluid hypocretin level.

    Keep up the good work.

    Mark Patterson, MD, PhD


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