Excessive Exhaustion

Although I seem to be handling my struggles better, I find it infuriating that my narcolepsy seems worse than ever. I know that my condition moves in cycles, and I am clearly in a down turn at this time. Still, getting up in the morning is more difficult, and my evening peter out far sooner than they did last year. I am scared that narcolepsy is progressive. I realize that my amphetamine dose is likely less effective, but I also doubt that the drug’s impact has curtailed to the extent that I am once again experiencing fogginess in my thinking and the possibility of micro-naps. Even today, my drive home from school felt much closer to the automatic behavior rides I remember from my pre-diagnosis days.

Adding to my concern is that I am at a loss as to where I should turn medically. Since my sleep doctor did not even both to come into the room during my last visit, I doubt he will be much help. While he definitely understands the basics of narcolepsy, he is a pulmonary doctor whose true focus is obstructive sleep apnea. What I need is a neurologist who is well versed in sleep. Sadly, such physicians are few and far between. The “premier” group in the Minneapolis and Saint Paul area apparently has a narrow view of narcolepsy. If you are not text book, then you do NOT have narcolepsy. Since I am functioning less well on my current medicinal routine, I highly doubt that “losing” my diagnosis would do me much good. I boggles my mind that I am NOT going to a doctor because I am afraid that the doctor might tell me I do not have narcolepsy. I KNOW that I have narcolepsy, but the fact that I personally have talked to people who have been to this group worries me enough that I am not going to take the risk.

In many ways my current situation underscores the ridiculous reality that far too many PWNs face – we have a disease that does not “fit” in the contemporary structure of medicine. Most specials focus on a specific body system, but sleep medicine covers an enormous range. Obstructive sleep apnea alone involves the throat, the lungs, the brain, and even the heart and other organs when untreated. So, one can find sleep doctors who are ENTs, pulmonary specialists, neurologists, and even cardiovascular physicians. And, the essential mechanism of OSA is fairly well understood. Narcolepsy on the other hand is an autoimmune disease in which an environmental trigger has caused a genetic predisposition to activate, resulting in the body attacking small cells in the hypothalamus. Thus, those same sleep doctors who treat OSA periodically get PWNs as patients. But, few of them understand narcolepsy (which is still in its infancy in terms of medical insight). The situation only worsens when one realizes that the limited number of PWNs and the extreme nature of our drugs (class II stimulants and sleep aides like sodium oxybate) provide little to no financial incentive for any doctor considering sleep as a primary area of interest. The one small ray of hope is that the recent discovers about narcolepsy may spark significant interest among immunologists – now that it is clear that narcolepsy is an autoimmune disease.

None of that rambling helps my overly sleepy state, however. I remain proud of myself for accepting my situation and for pushing ahead with the best attitude that I can muster. Nonetheless, I abhor that mowing my small lawn today completely did me in. That comes on the heels of a Saturday and Sunday that saw me accomplish little because I was drained from talking to my wife and from confronting another parent. All of that happened on Saturday, but I needed all of Sunday to recover. In fact, I would argue that some of my current lethargy is also linked to my mental and emotional exertion on Saturday. While I know that I am doing the best that I can, the rational side of my brain is screaming about how pathetic the reality is. Yet, I have no choice, but to breath and to accept my disability.

I am looking forward to the Narcolepsy Network conference this weekend. While my relationship with the organization feels shaky at this time, I am thrilled to be going somewhere where my “norm” IS the “norm.” Sitting in a room, or even having a casual conversation with a fellow PWN, is tremendously empowering. It reminds me that I am not insane. It also underscores for me that this disease is awful, and yet it is also manageable. Granted, I need to keep working to accept my limits, but I can be productive even with narcolepsy impeding me much of the time.

>MOONS Madness

>This past week I twice tried to get decent photos of the full moon. The pictures from the first batch are okay. I have not actually looked at the second set yet. I want them because I am helping get the Midwest Organization of Narcolepsy Support – Minnesota chapter (MOONS-MN) organized. We have set up a new website with a new address – www.moonscentral.net. We are also trying to get the names and addresses for the group organized into a database. That way, we can generate all kinds of good data and be able to help each other more.

Beyond the website, I also traveled to the Minnesota Secretary of State’s office to see if the Minnesota Narcolepsy Association could become “re-established” and have the name changed to MOONS. Turns out, it can be done. I filed the appropriate paperwork and now need to get the other planning group folks organized so we can adjust the by-laws appropriately. I also think that this move will help with the dues issues. As nutty as the past few weeks have been, I am proud of myself for taking care of this. Not only is MOONS-MN a non-profit in the state of Minnesota, but I also plan to check with the federal government to see if the Minnesota Narcolepsy Association (now MOONS-MN) still has federal nonprofit status under 501 (c)(3). All around the situation is excellent.

I have high hopes for our group. The two people who got us started are as committed as ever. We also have at least six other people deeply driven to see this group thrive. Now that we know that we are a non-profit for sure, we have a lot of fantastic avenues available. I truly think that MOONS can do awesome work. It gives hope that I will help all of these folks make a difference in the battle against narcolepsy.

var gaJsHost = ((“https:” == document.location.protocol) ? “https://ssl.” : “http://www.”);
document.write(unescape(“%3Cscript src='” + gaJsHost + “google-analytics.com/ga.js’ type=’text/javascript’%3E%3C/script%3E”));

var pageTracker = _gat._getTracker(“UA-4122097-1”);
pageTracker._initData();
pageTracker._trackPageview();

>Insightful Info One

>My plan is to post on topics from the conference throughout the next few days. I need to do this in small chunks or I will never get it done. Please feel free to use the comments section of each post as a place to ask questions. I feel like I learned something in every session that I attended. Part of the reason the weekend overwhelmed me is that information kept buzzing around my brain. All week, I have been trying to remain mindful of each moment, but the thoughts and insights of the conference continue to bombard me. Hopefully, getting some of them out of my head (and into electrons) will allow me to function a bit better at work and around my house.

The most incredible scientific/medical moment of the weekend was the keynote address. I figured listening to Dr. Emmanuel Mignot would be a powerful experience (he is one of the two leading researchers of narcolepsy in the world. The other is Dr. Masashi Yanagisawa at the University of Texas Southwestern Medical Center). Dr. Mignot heads up the Center for Narcolepsy at Standford. He is once again on the verge of a major break through. Here are the basics from his talk:

1. They are using the Human Genome work and Affymetrix 6.0 Array Set: Genome Wide Association to look for other common variants within the genomes of people with narcolepsy with cataplexy. The Array allows blood samples to be tested against 906,600 Single Nucleotide Polymorphisms and 946,000 Copy Number Variations. Thus, with massive sample groups, a research can find common variants within common disease groups. This same testing is being used for a number of other common diseases (including many autoimmune diseases) like Celiac’s Disease and Irritable Bowel Syndrome. Basically, the researcher wants to find a high p-value.

2. The paper published by Japanese scientists and Dr. Mignot at the end of September found a couple of genes in a study in Japan that had a smaller population sample (222 PWNs w/ C vs. 389 Control subjects). The two genes involved in the common variant both have roles in the sleep cycle. The study was repeated using a Korean group, a Caucasian group and an African-American group. The correlation was present in the Korean group, but not the other two. So that variant is likely only in Asian populations.

3. Dr. Mignot did a much larger study in the U.S. He tested 809 PWNs w/ cataplexy against 1120 Controls (all who had HLA-DQB1*0602 – this is the autoimmune factor that is definitely involved in causing narcolepsy). While Dr. Mignot did not tell us the name of the gene that they found, he did say that they found one. He also said that the protein that it controls is a part of the immune system and works with HLA like a hand and glove relationship. Needless to say, he is extremely excited about this. The p-value was 10 to the 12th power (which is insanely high). He still must replicate the results before he can publish, but he believes that this is a major discovery. While he still needs blood from 400 more PWNs w/ cataplexy in the U.S. to finish the replication, he is also doing a study in Japan with 800 PWNs and 800 Controls.

4. Finally, he has had the chance to work with five PWNs within a few months of symptom onset. As a result, he has done a western blot on them from their liver and found the same triplet of results. The five also all had recent viral infections and corresponding anti-infection antibodies. There needs to be far more research done, but he believes that Immunologists could devise a way to interrupt the disease process/autoimmune response that leads to narcolepsy.

The only part that is hard in all of this is that it is focused on Narcolepsy with Cataplexy. I might have abnormal or rare cataplexy, but am not sure. Even if I do, I am grouped in the same catagory of Narcolepsy without Cataplexy. As a result of that, my version of this disease might be highly different than what Dr. Mignot has discovered. I hope not. He certainly believes that figuring out Narcolepsy with Cataplexy will provide insights into the full spectrum of Narcolepsy. Nonetheless, it is unnerving to think that what I have is MORE complex than what his YEARS of research have uncovered. Still, it is exciting. The part that gives me the most hope is the clear link to some type of infectious agent having a role as a potential trigger. Even the remote possibility that this condition might be connected to my four bouts of Mono and/or my chronic toncillitis and/or my chronic sinusitis is thrilling.

Here is a link to a published Google Doc of my notes – http://docs.google.com/Doc?id=d6qf3b7_613mp98wg8. Folks should feel free to check them out. The talk was amazing. Perhaps the funniest thing is that Dr. Mignot completely seems like the absent minded, but brilliant, professor type. His clothes were fairly rumpled and a friend of mine told me that he reminds her of Dr. Oliver Sacks (whose life story was made into the movie Awakenings – Robin Williams plays the Sacks character, Dr. Sayer). Dr. Sacks is also brilliant, but can’t seem to button his own clothes correctly. I always find it refreshing when “ordinary” (or even odd-looking) people prove to be extraordinary. Dr. Mignot certainly fits the bill!

var gaJsHost = ((“https:” == document.location.protocol) ? “https://ssl.” : “http://www.”);
document.write(unescape(“%3Cscript src='” + gaJsHost + “google-analytics.com/ga.js’ type=’text/javascript’%3E%3C/script%3E”));

var pageTracker = _gat._getTracker(“UA-4122097-1”);
pageTracker._initData();
pageTracker._trackPageview();