More Than Fifty Years to Diagnosis of Narcolepsy

by Susan
(Michigan, USA)

This account is only roughly chronological given symptoms appearing, treatments, new approaches, plus changes in doctors, the advent of the internet, and self-help. It's a winding tale.

As long as I can remember I've had sleep issues. I dismissed initial exhaustion to teenagers needing more sleep, the volume of school work in high school and later in college, and working at least part time through those school years.

By age 25 I had married, had been working full time for a couple of years, and unknown to me until informed, had been kicking my husband repeatedly all night long. That progressed to night wakings from restless legs and walking it off until I could lie still again for sleep. I didn't know RLS was a condition, and treatable.

In my mid-forties my doctor was horrified to learn of my decades of RLS suffering and prescribed clonazepam without a sleep study. A year or two earlier he had diagnosed depression given exhaustion, inability to function effectively, etc. Clonazepam results were initially miraculous but eventually dose was doubled, and soon that wasn't enough either. We tried other drugs but they either did not work or had unacceptable side effects. The clonazepam holiday revived its effectiveness for awhile. My doctor had no more ideas so I started online research.

I remembered reading about nicotine patches when my mother was quite bad with Parkinson's and related dementia years earlier. I knew that RLS and Parkinson's were tied to the same brain region. I found enough information to move forward with the nicotine patches to supplement the clonazepam. I did not ask permission from my doctor, just experimented on my own. I had total relief of RLS quickly and eventually learned that a 14mg patch, worn from wakeup to bedtime, was ideal for me. I tried cutting back on clonazepam recently - a dismal failure.

During those years my continuing daytime sleepiness triggered an overnight sleep study and I was found to have sleep apnea. I began wearing a CPAP device every night and it helped, but not fully, and sometimes impeded sleep since a properly fitted mask was never found despite repeated attempts. The hose would tangle and rub as I moved with continuing RLS. I had to walk that off many nights per week, disconnecting the CPAP, so more sleep disruption and poor sleep quality.

Somewhere in those years, my eyebrows fell out, my weight climbed steadily without reason, etc. so I asked my doctor about thyroid issues. He requested labs for TSH only; results said I was "fine". His office began to routinely test for vitamin D deficiency about then too. I was very deficient so was prescribed vitamin D with over the counter supplementation following that. I was having enormous joint issues too, all over my body, wearing a metal wrist brace to bed, had survived months of plantar fasciitis, had what was diagnosed as osteoarthritis swelling the knuckles of both hands, and an unexplained/unresolved right hip/thigh issue. I had right shoulder soreness extending up my neck too. I thought it was from cradling the phone at work.

I had done some online research, the last thing nearly any doctor wants to hear, and had gone gluten free. My knuckle swelling resolved, the wrist healed, constipation and bloating resolved, so on a return visit to my doctor he ordered a sprue test. It was negative. He did not believe gluten intolerance was real but said it would do no harm so continue if desired. The breaking point came when I did a routine task at home and seemed to partially dislocate my shoulder. It resolved before the x-ray was taken (I rolled onto my back in sleep) but I knew it was not OK. He also ordered vitamin D testing and not only was I not maintaining my high of 39 from prescription dosing, I had dropped to 23 while taking 7000 units daily over the counter. He said to keep taking it, repeated the TSH lab at my request - "fine" again - and sent me home.

Because I knew my shoulder was not right despite the x-ray results, plus I had other skeletal issues, I scheduled an appointment with an osteopath. That was the start of all diagnoses.

In addition to manipulating the rib that the x-ray failed to show as out of place, the osteopath noted irregularities in my feet, including a bloated toe, plus that my feet were very cold. She asked about thyroid testing, I told her only TSH had been done, so she ordered a full thyroid panel and referred me to another osteopath. She herself specialized in manipulations only but confirmed my suspicions of gluten intolerance and denial in medical communities about it.

So, the second osteopath reviewed thyroid labs, found I had autoimmune Hashimotos, and prescribed desiccated thyroid. She ordered gluten testing; I added yeast since my allergist thought that could be the issue but did not have a test for it, and I added gene tests. I wanted to know if I had celiac genes. Results were clearly non-celiac gluten intolerant, no yeast intolerance, and two copies of gene DQB1-0602. I researched that gene and saw how strongly the gene is implicated in narcolepsy so went back to discuss with my new doctor. Following an in-office invitation to rest in a delightful darkened room while she finished with another patient (I fell asleep, and had a dream too), a review of previous sleep studies and history with me, she prescribed modafinil and said I must schedule a sleep study. I contacted the same sleep center I had been to previously and met with a pulmonary sleep specialist who said she knew nothing about correlations between that gene and narcolepsy. She and her fellow said narcolepsy was unlikely and rare. The tone of the conversation was condescending; I had heard that before. I knew I could not work with her or the facility. I refused to schedule.

I sought an alternative sleep disorders center. With a relative living in Rochester, MN where I could stay, I opted for the Mayo Clinic. Records were sent to request an appointment with a neurology sleep disorders specialist; I was quickly approved and scheduled for a consultation and sleep study, and made the trip to the Mayo Clinic. During the consultation, questioning, and medical history review, the doctor suddenly announced he was cancelling my sleep study. He said we would learn no more than what we already had, that there was a mountain of evidence already including a sleep study done just 2 months before that confirmed no sleep apnea, no restless leg incidents at all, and less than 5% REM sleep in the entire overnight visit. I don't know what else the study revealed since there is so much on it, but it was very clear to this dean/professor/sleep specialist/neurologist that I had not been diagnosed or treated well.

The doctor further clarified that I was on modafinil already as he would prescribe, it was working (it is working great! most days...). He said we could test to see if I have cataplexy although I have never had any incidents of sudden collapse so it is not overt at the moment if it exists. He wrapped it all up together with the existing diagnoses of autoimmune thyroid, autoimmune gluten intolerance (he insisted on calling my gluten intolerance "celiacs" and when I said no, I didn't have celiac genes he said they are "one and the same"), and seemed surprised or dismayed that the sleep clinic I had attended at home could not have figured this out. Me too. He said I have probably had each of these conditions since birth. He advised to not fear going to 600mg on modafinil versus the max recommended dose of 400mg per day. So far that has not been necessary. I sometimes nap on long days, typically evenings. All I wanted was to get through working hours with a clear head and no sleep attacks. Now I do. All else is bonus.

In summary, on thyroid meds I am losing weight, my high blood pressure meds have been cut in half and may eventually be eliminated, my joint issues have evaporated with the elimination of gluten, 10,000 units of vitamin D liquid supplementation daily had me up to 70 at one point, though I dare not miss a day. I dropped nearly in half quickly when I cut dose after gardening season began. I thought the sun and diet would be enough; no, it is not, for me. The bloated toe mentioned earlier eventually led to ten bloated toes, a diagnosis of secondary Raynaud's, and I finally understood why I needed potholders to handle frozen food. My sleep is unbroken at night; my days are not brain-fogged and nap-insistent. It only took 57 years to figure it out.

To others out there struggling with excessive daytime sleepiness, my strongest advice would be to advocate for yourself. You know your body better than anyone else ever can. What you forget to mention or may think is not relevant, might surely be. Do not worry that your doctor may have "hypochondriac" written in big letters on the notes in your chart, as I did. Ignore family members and others who may think or say the same. Have no loyalty; just get well. Then when you have proof positive as I now do, perhaps consider forgiving your family. Don't give up.