Narcolepsy Medical Care Transitions and Challenges (Part 2 of 2)

Editor's note: Read part 1 here.

What is hyprocretin deficieny's role in testing?

Hypocretin deficiency is still not a true indicator of whether a person will have cataplexy and the genetic test looks for a single gene mutation known to be linked with narcolepsy, but from speaking with other families with hereditary narcolepsy, with diagnosis and symptomology, both tests could still be negative while the person presents full narcolepsy with cataplexy symptoms.

The doctor basically told me that I must have type 2 narcolepsy with pseudo-cataplexy (cataplexy that only occurs with negative emotions) in a room full of men (doctor, 2 medical students and my partner)

I didn’t have the capacity to have a private discussion to talk about the cataplexy that occurs during sexual orgasm (or other instances more appropriate), as I could only imagine my partner ending the meeting in a panic attack.

Even the most expert sleep specialist may not be the right provider for you, especially when you are a trained pharmaceutical scientist and can understand the accuracy and clinical significance of the medical results.

My orexin levels are at the lowest end of normal, that much was certain, but the genetic marker or trait for my family had yet to be discovered.

Narcolepsy advocacy in the face of constant transition

Since this time, I’ve endured transitioning doctor’s 3 more times.

My sleep specialist moved out of state, and I had to eventually endure another MLST because my records were still “inconclusive”, which came up as idiopathic hypersomnia.

Thankfully, the new provider took on the management of my CPAP subscription, but I have been stuck without medication management for a long time.

Since I manage my cataplexy symptoms with an antidepressant, and my sleepiness with an off-label treatment, my PCP has been my main prescriber since my sleep specialist transitions.

I have finally returned to the care of my most trusted provider when he returns to the state, but as a neurologist, it has been difficult to get regular appointments.

Presently though my symptoms are under control and well-managed with the protocol I have been on for the last few years.

Finding strength in the narcolepsy patient community

My narcolepsy care journey has only just begun given it has been 7 years since diagnosis, and I hope many more years of life to come.

Not everyone’s journey is this rocky, but I know that changes in care providers are common.

The one thing I understand most about my journey is that I kept advocating for myself.

I did not get all the answers I sought, but sometimes that is the case with medical conditions that have complex criteria and medical research has not been fully developed in this field.

I am not alone though in the challenges that occur with sleep specialists and if needed I will accept another transition in care with grace and time.

What I found most useful during these transitions was the patient support groups available to help me work through the mental confusion, frustration and inability to process the findings by these sleep specialists.

When data integrity clouds the results and additional testing only complicates the diagnosis, one thing has not changed: my history of symptoms. I am a person with narcolepsy and cataplexy.