The Path to Diagnosis...

Parmie and her Panda Bear

Hiccups are harmless, right?

Up until the end of my 29th year, I had been the perfect picture of health.  Like many people, I had food allergies and other allergies, but did not let that stop me from being a self-proclaimed work addict that loved to keep busy.  Perhaps I would never be the strongest, nor the tallest person in the room, but I loved approaching everything with a zest and passion that was exuberant.  I, nor my friends, family, or my husband, would have guessed that hiccups and vomiting would lead to a diagnosis of an extremely rare, often misdiagnosed autoimmune disorder that would change the course of my life.

  I have always been involved in some creative outlet, either through the field of food, visual arts, or most importantly, through music.  Being classically trained on the violin, dabbling in both piano and guitar, I found my love of opera later.  I spent many years auditioning and performing with choirs and participated in a multitude of musical theatreshows.  Opera kind of snuck up on me, as I was very involved in my undergraduate years in gigging out with my own music I wrote (folky pop rock influenced).  But you follow where your voice leads you, and it led me to opera.  I obtained both my B.M. of Vocal Performance and then my M.M of Vocal Performance degrees.  After completing my Masters degree, I did what most starving artists do - I entered the work force to try and pay off my student loans and pay my bills.

I was working two jobs that I loved the year I turned 29.  My day job was in Property Management, where I was able to apply both my sales ability with clerical work and surprisingly, my cooking/hostessing skills.  Property management is a fascinating beast, as your interpersonal people skills must be exceptional and I loved the variety of meeting people and learning their stories every day.  I also taught private voice lessons after I would leave the office, and this is an avenue of music I ended up loving.  It really made me hone in on my own skills as a musician and performer to teach others.

Iris and her small white cat Brie.

arly February 2015 is what I believe to be the beginning of my journey to diagnosis.  My husband and I had decided to start in the world of procreation, so when I had a 2 and a 1/2 week period of constant vomiting, we thought maybe I had been knocked up.  The only weird thing during that time, in addition to constant nausea and the vomiting (I lost close to 6 pounds during that time) was that I had a couple of 24 hour periods where I was almost constantly hiccuping.  However, I quickly returned to my normal healthy self, so I did not go to the doctor as I was not pregnant and I felt fine .  At the end of the month I turned 30 and thought nothing of that little blip of my life.

The next few months passed relatively normally, with both jobs gearing up to the busy season.  We saw friends on a regular basis and kept busy and occupied with the typical frivolous and frenetic lifestyle that a couple of early 30’s DINK’s (Dual Income, No Kids) would lead.  The only nagging little gnat was that I was noticing that I was ending each day completely exhausted, which was incredibly atypical.  I powered through each day, attributing the unusual fatigue to an overflowing and never ending list of commitments.

By the end of May/beginning of June, I noticed that the skin on my left side of my body was constantly itchy.  Like a down in the bone, cat constantly scratching it’s neck kind of itch that could never be quite satisfied.  I scratched through my skin in a few different spots, and there were a couple of instances when I was scratching the skin that my entire armquickly felt like a sunburn.  These sensations subsided, and towards the end of the month we went to Vegas for a weekend.  I wasn’t going to let anything slow me down - the itchy skin was gone and probably related to my seasonal allergies, anyways.

Iris and the hubs being goofballs.

We got back from Vegas and almost immediately I felt terrible.  This was right before the 4th of July weekend, and I spent that whole weekend in bed, ridiculously lethargic and nauseated.    By the time I was supposed to return to work, I could not muster up the energy to even get out of bed.  The itching was starting to return and the sunburn feeling as well.  I called out sick, and my nausea only increased.  I was starting to constantly vomit after even drinking just a small amount of water, and then the hiccups started.  

Hiccups, by nature, are an annoying thing that people take great joy in trying to scare out of you.  Nothing worked.  I went to UrgentCare for the itching, and nausea, and was given a couple of prescriptions.  They didn’t know the cause, but UrgentCare really exists to treat the symptoms occurring at the time rather than find an underlying problem.  When the sunburn feeling started increasing to a full out burning sensation and the hiccups were a good 12-14 days strong and constant, my body hurt at this point.  I tried to find a PCP as I didn’t have one. Remember, before this point, I almost never went to the doctor as I never had a reason to go.  I ended up getting in to see a Nurse Practitioner, who ran some basic tests, including skin scrapings for a Staph Infection.  That test came back positive, so once the skin I had scratched through healed, I was permitted to go back to work.

Over the next few months, I intermittently went back to UrgentCare, the ER, and finally established who my PCP would be, on a recommendation from an UrgentCare Doctor.  I was referred to a dermatologist and allergist, who could not figure out why my skin was so itchy, and the more alarming sensation where the itch and sunburn feeling was intensifying to full on burning.  The allergist told me my skin was just hypersensitive to all the pollens that I was extremely allergic to, and that is why my skin had some burningsensations at times.  I had lost about 10 pounds and was slowly gaining it back during that time period.  I was prescribed different steroid packs to help alleviate the itching/burning and other medications to help stop the hiccuping when those episodes were occurring.  I rapidly went from scratching a “sweet spot” to set off the burning shocks, up and down my limb, to absolutely nothing stimulating my skin to set off the shockwaves.  I learned to be extremely cautious when moving my body in order to not set off these episodes.  My co-worker saw an attack once, and asked me to describe the sensation.  To the best of my ability, I explained a shimmering sensation that turned into a burning blaze of pain that felt like someone was running a blistering, searing hot cast iron skillet up and down my leg (the limb that was being affected at the time).  Still, I did not think that something was terribly wrong - I just thought that the allergist was correct in the hypersensitive skin theory and that it would subside again as it always seemed to after a couple of weeks.

Iris and the hubs in North Carolina 2015.

In early November 2015, I had another vomiting/hiccuping episode that lead me to the ER again after no relief of hiccups for a duration of 10 days straight.  I was prescribed another medication to help try and freeze the constant hiccuping, and I noticed that the vision in my right eyewas starting to blur and grey out.  I researched the side effects of the hiccup medication, and a rare side effect was affected vision.  Because of this, I did not think it was a huge deal even though the vision in my right eye went from fuzzy, to light grey, to dark grey.  After that script ran out, the vision started going back to light grey, so I figured the side effect was leaving since the medication was no longer in my system.

The beginning of December 2015 I was starting to feel back to normal, minus the “slightly” messed up vision in my right eye and extreme fatigue.  I started to have another round of burning pain episodes with my right leg this time, but my husband and I boarded a plane to North Carolina to visit his side of the family before the holidays.  We explained the updates with all the ER, UrgentCare, and Doctor visits and warned them that I might have a few episodes of pain when there, but it wasn’t a big deal.  In retrospect, I imagine it was extremely terrifying to see someone who looks fine crying inpain from no apparent cause in the middle of a hockey game, family game night, or getting out of a car.  But by this time I thought it was becoming part of a routine and knew that the episodes only lasted a couple weeks and would soon subside.

While we were in a store in North Carolina, I noticed that the vision started darkening again in my right eye.  I tried to brush it off, but somewhere in my head a little voice that sounded suspiciously like my husband’s said that I should make another appointment with my PCP for the day after we returned home to the Southwest.  I was not terribly scared, and explained most of everything to him throughout this whole process, however I have a tendency to downplay things because hey, I’m a healthy person, and there really isn’t anything wrong with me.  It is just a unprecedented reaction to yet another medication, right?

So off we went to the Doctor the morning after a redeye flight back home.  My husband insisted on driving me as he was concerned about the vision.  I explained everything to my PCP and he looked in my eyes with that little light like Doctors will do.  I remember him looking at the right eye for a long time, frowning.  I tried to play it off as though it was not a big deal, that it really was not something serious, that I must be right that it was an adverse reaction to one of the many scripts I had been on all year.  He looked at me, told me that was possible, but that he wanted to refer me to an eye specialist.  He could tell something was abnormal, but thought it was beyond what he could help me with.  He told me that since it was December 18, a Friday, the reality of me getting a same day appointment was very slim and most likely since it was right before the holiday it might take a little bit to get an appointment.  To my great surprise, the ophthalmologist I was being referred to wanted me to drive to his office immediately and he would fit me in.  

This should have been a clue that something was not right, and that the ophthalmologist thought something warranted a consultation immediately, but I foolishly thought that they were just being pretty awesome in the Customer Service world.  Denial can be a powerful thing.

Iris and Hubs flying back from North Carolina.

It was a very somber meeting with my ophthalmologist.  He examined my eyes and did the typical vision tests, and listened to me explain to him about all the nausea, vomiting, hiccuping, itchy skin, burning pains, and so on that had been stubbornly sticking around all year.  He then told me that my Optic Nerve was very pale during the examination and extremely swollen, and he was giving me a diagnosis of Optic Neuritis.  He wanted me to have an MRI performed on Monday, as he very gently told me there was a possibility that what was going on with me was MS.  The cumulation of all of my symptoms in addition to the Optic Neuritis were concerning to him, and he wanted an MRI to confirm or deny his suspicions.  At this point, I was offered a standard treatment for an MS attack, a 3 day hospital stay with IV steroids to stop the Optic Neuritis attack, but I declined as I had to work that weekend and could still see out of my left eye.  Besides, he told me it was not a necessity at that moment but to contact him if my vision changed.  Typically, with an MS attack, IVSM steroids are optional rather than a necessity, depending on the phase of the disease and severity of the attacks.

That evening I attended a farewell party for my friend as she was leaving the company we worked for to begin a new career in nursing.  I honestly do not remember a great amount of detail from that night as I was trying to not aggravate my “sweet spot” to set off another burning attack.  The next morning, my husband drove me to work as he no longer felt comfortable with me driving with all the concern about my eyes.  In all honesty, my husband was quite angry with me for playing down the severity of my symptoms for so long, especially those with the vision.  I had told him that things were a little blurry, rather than completely greyed out, and he was ticked off that I had been driving with messed up vision for over a month.

That workday was a blur as well, but I remember noticing that text on the computer was increasingly harder to make out.  Everything seemed a bit dimmer as well.  I told my husband when he came to pick me up, and we figured that since I was going in on Monday there couldn’t be an immediate need to go to an ER on a weekend, as the ophthalmologist office was closed on weekends..  The next day, I woke up and things were blurrier still.  I went with my husband to the grocery store and noticed that the lighting seemed dim.  You know how obnoxiously bright those fluorescent lights are, and it was like a darkening light filter had been applied to my eyesight.  I was a living, breathing model of Instagram filters muting overexposure.

Monday morning, the next day, we had planned to go as soon as the walk in clinic opened (8 am) to have a pregnancy test performed so that I could have those results for clearance to have the MRI performed later that day.  I had set my alarm a couple hours early, woke up, and half asleep went into the bathroom to get ready.  I turned on the light, and flipped out.  I could not see my features in the mirror at all.  This was my moment of realizing that something was actually terribly wrong.  It was like someone had taken a dim, foggy filter and applied it to my vision.  Nothing was clear, it was like walking around in a little foggy bubble.  I was a complete mess while getting my test done at the clinic, and we called the ophthalmologist.  They initially were going to have me see a colleague of his at another location, but as we were driving there from the clinic, they called back and told me to come back to the hospital where the original ophthalmologist I had seen had Doctor Privileges. 

Plasmapheresis Machine.  I called him HAL.

The news was grim.  Optic Neuritis typically is contained to a single eye, and it is less common to have it affect both eyes - bilateral Optic Neuritis.  This time, I was admitted to the hospital to bump up my MRI and to get blood work done and to start 1 gram of IVSM, a very strong steroid that is administered intravenously.  He was prescribing 1 gram for a period of 5 days in hopes to stop the active Optic Neuritis attack and to hopefully halt the damage being done to the optic nerves.  He would come see me very early in the morning the next day to go over the results for the MRI.

My husband and I discussed and researched a little about MS and everything that is involved in a MS diagnosis.  I had calmed down a bit by this point, and was more concerned with informing my job of the hospitalization and leaving my cats suddenly for five days.  My cats are a bit neurotic, so I knew they would not take an absence very well.

The next morning, and after my first dose of the IVSM, my ophthalmologist very kindly broke the news to me that I did indeed have MS.  He was referring me to an excellent neurologist, an MS Specialist, who would be in to meet me very shortly.  I took the news fairly well, as we had been prepared for this possibility.

Twenty minutes later, the head of the Neurology department walked in.  He asked me a few questions about what had been happening all year, and seemed particularly interested in the few times I had had my episodes of non-stop hiccups and vomiting.  He seemed a little too interested in those symptoms which seemed silly.  A hiccup is a hiccup, right?  Just a side effect from the vomiting, surely?  

A few scribbled notes later, a little critical thinking, he turned to my husband and myself and announced,

“There is a possibility that this is MS, but I do not actually think this is a case of MS.”  He had to order some more tests to confirm, but he was almost certain that this was a condition called Neuromyelitis Optica (NMO).

My husband and I held hands.  NMO?  What in the world is this?  I had never heard of anything like that in my life, and I had learned some pretty obscure music history facts during my lifetime.

“Is NMO better or worse than MS?”  This is the crux of what my husband and I wanted to know.

My neurologist looked thoughtful when we posed this question, my husband later told me.  

“…It’s different.” 

Iris in Pink Santa hat, with Giant Bear, Christmas Day 2015

At this, the fear that had subsided began building again and I did not absorb half of what he was saying.MS I could deal with.  A decent number of people had been diagnosed with MS.  But finding out that there were roughly four thousand, FOUR THOUSAND diagnosed cases of NMO in the US and there was no cure, floored me.  There is an antibody, the NMO-IgG (aquaporin 4 antibody), that is tested for in the blood and spinal fluid, but not everyone tests positive for this defining marker of NMO.  He would not get the test results back immediately, but he explained the way that the lesions (damage) that showed up on my MRIs that had been taken so far were following the patterns more closely associated with NMO, and the other big clue to him was the intractable hiccups and vomiting.  It was a classic symptom of NMO; he kept stating this was a classical case of NMO.

I had a battery of tests and blood work done in addition to what had already been done, and two additional MRIs and a Lumbar Puncture.  Lumbar Puncture is the delightful, new term that Doctors use to describe what is commonly known as a Spinal Tap.  I was also prescribed ten Plasmapheresis treatments, which I referred to as an oil change for my blood.  The most terrifying experience was getting the Vas-Cath (Vascular Catheter) installed in my jugular.  As an Opera Singer and Voice Teacher, the idea of having any type of surgery, no matter how minor, around my throat area, was completely terrifying. The treatments are a piece of delightful cake once you have the surgery and the Vas-Cath implanted.

I stayed in the hospital over Christmas and New Years, and when all was said and done, it was a 3 week stay at the hospital.  Over the next two months, as my vision did not return and I had two more relapses (active attacks of either an Optic Neuritis attack or a Transverse myelitis attack, the burning sensations that could lead to paralysis), I had to leave my jobs when FMLA leave ended and had to start learning how to immerse myself in this new way of life.  It has been a long, emotional adjustment to learning how to do almost every task again with impaired vision. 

Iris in Hospital 2015, making a bid for FREEDOM from the hospital.

Though I live with limited vision and a few residual symptoms that crop up occasionally, I count myself inordinately lucky to have received the correct diagnosis so early in my own journey with NMO.   I now know that if I had been put on MS medications I could be in a much worse state, as it has come to be known that MS medications typically agitate and make NMO attacks worse.  It was a remarkably fortunate chain of events that snowballed after I initially met with my ophthalmologist who recognized what could possibly be happening to me, to my neurologist who had interacted with this disease during his career and was able to recognize it for what it was immediately.  Most neurologists will never interact with NMO during their career, and few patients are fortuitous enough toreceive immediate intervention during an active attack if their neurologist is unfamiliar with the urgency of needing IVSM or Plasmapheresis to try to stop the damaging attack.

Now, a year after my initial diagnosis, I am much more informed about my strange little autoimmune disorder, NMO.  I like to think of it as my immune system being overly efficient, and the preventative medications that I take to suppress my immune system are my partners in crime in helping keep me stable and try to prevent future relapses.  Since my disease course seemed to take a pretty aggressive form in the frequency of my attacks, I made the decision to apply to be a part of a Clinical Trial for a hopeful medication to combat NMO.  The initial Clinical Trial had very promising results for people who had had very similar disease courses to mine, in the sense of frequency of attacks, anyways.  I am hopeful that the outcome from this phase of the Clinical Trial will result in the first FDA approved preventative medication for patients with NMO.  The amount of research has been explosive in the last ten years and we are fighting every day for the cure.  In the meanwhile, I continue to learn new ways to do things that I did prior to NMO and fill my life with things that bring me joy.

Iris in Hospital 2015

UPDATE:

Today as the end of 2020 approaches, there is a world of difference in how I am handling the life-altering diagnosis and impaired vision that came with the diagnosis of NMO. While my vision is still impaired in both eyes, it is better and more manageable than when I first was hospitalized. The time in the clinical trial for the drug Solaris (Eculizumab) helped keep me stable in my disease course ,and currently I have been stable since the last relapse I had back in 2016. I attribute much of my mental and physical well being to surrounding myself with a few incredibly strong, supportive people.

Adjusting to a disability that you never asked for takes time and a strong, flexible mind to accept, adjust, and adapt to your new normal. It is not something that you wake up one day and say “I am fine”; rather, it is a day by day, sometimes hour by hour adjustment that you have to allow yourself to get furiously angry, grieve, and then pick up the pieces. It is an absolutely normal thing the healing process, and it is a constantly evolving and present thing that ebbs and flows. Grief is a cyclic thing, but it is something that you can learn to manage.

The most difficult thing about a “hidden disease” is pushing yourself to overexertion just to keep up with what your old limits used to be. If you are not holding a white cane or being led by a guide dog, or for some people using a cane, walker, or wheelchair, it is incredibly difficult for others to truly grasp that your stamina/vision/physcal limits are actually different than theirs. It is not a criticism, as I look back to myself before diagnosis and think I would have reacted in a similar manner. You learn a lot of grace and patience and empathy, and I think that one f the best things about being diagnosed and having a “tangible” (to me , with the impaired vision), was shifting my priorities and becoming a much more empathetic person.

Currently we have a great little routine going, I get my infusions every two weeks at home, the cats are (bratty) super pleased their person is home, and I have continued to utilize adaptive technology when needed for learning a variety of new things. I obviously love cooking and learning new techniques, but we have also been working on slowly doing updates to our home that I have played a large part in, such as refacing the cabinets. I have learned that while I do not do things precisely as I did before, I can still do them, albeit at a much more careful and slower pace than before.

I am incredibly proud to have been a part in the clinical trial that led to the very first FDA approved medication for NMO. The fact that this one medication was approved is groundbreaking in the treatment of this disease, but this year two additional medications were FDA approved to treat NMO as well and it is astonishingly incredible that nor only one, but THREE medications were approved for a disease that is incredibly rare in the same calendar year. When I first was diagnosed, there was not nearly the amount of information or medication options to treat this disease. Being handed what is now archaic information being told a patient (if not on preventative medication) had an average of 5 years to live was terrifying to my husband and myself. I felt so fortunate at the time that I learned as much as I could about the disease, and the amount of resources and information now compared to five years ago is incredible. For an ultra rare disease, the amount of medical professionals and people being educated about NMO is growing day by day, person to person.