2012 - FINALLY!! Official Diagnosis

2012 was the beginning of true progress for me.  This is a long one! A lot of results in such a short time when you consider my journey started in 2008 and I'm only just receiving an actual diagnosis 4 years later.  

Following the surgery in 2010 I continued regular follow ups with the surgeon and had been advised that the headaches and the whooshing sounds in my ear were something I would just have to live with. When I started getting visual white-outs, I just chalked it up to yet another symptom to be lived with and didn't make a rush visit to my doctor.

My next follow up was April 2012. Mentioned once again the whooshing in my ears. 
A difficult sensation to describe but the best comparison I could find was to say it was as if I was holding sea shells over my ears all the time. I'm sure anyone who has done this and "heard the ocean" knows that in reality what you are hearing is actually the noise of the surrounding environment, resonating within the cavity of the shell. You can simulate this by holding a glass or even a hand over your ears. In my case though, nothing was covering my ears, and I was hearing whooshing sounds all the time, worse if I was to bend forward or do anything that required straining, not the best thing after a recent move as shifting a box would increase the sensation. Additionally, I had the white-outs. Those continued to increase in frequency and duration. By this point, I would lose my vision for roughly 30 to 45 seconds, not long, but certainly enough to cause concern. 

Papilledema - Swollen Optic Nerve

During my follow up, Dr. Harvey dilated my pupils and did a more thorough examination of my eyes. Then, I'm not sure if it was a slight panic or just a sudden "I know what's going on" as he left the room stating he'd be right back. A few minutes later, he returned with another doctor with him. He introduced me to Dr. Rodriguez, telling me that he was a Neuro-Ophthalmologist with the Eye Clinic. My eyes were again examined and I was told that I had swelling of both optic nerves (Bilateral Papilledema) and further follow up was required. 

Papilledema is a condition in which increased pressure in or around the brain causes the part of the optic nerve inside the eye to swell. Symptoms may be fleeting disturbances in vision, headache, vomiting, or a combination. Doctors make the diagnosis by looking in the person’s eye with an ophthalmoscope. The disorder causing increased brain pressure is treated as soon as possible. 

An appointment was booked for late May, along with a referral to a rheumatologist  and an MRI scheduled prior to that appointment. I was also booked for some additional tests at the Eye Clinic including specialized pictures of my optic nerves. 

I had my MRI (with contrast) then Rob and I took Rachel, Krystal and my sister Mandee to French River for the May 2-4 (Victoria Day Weekend in Canada). Great weather and for the most part a great time for everyone but I was rather restricted in what I could do. 

Anatomic arrangement of the facial nerve and muscles.
 nerve is depicted on the right side 
facial muscles on the left.

While standing in the kitchen of our cabin, I experienced a sensation that terrified me. I had no control over my face, and to me, it felt as though the facial muscles were twitching and pulling down towards my collarbone. Everyone that saw it told me it actually looked as though my face was pulling upwards with a weird smile on one side of my mouth while the other remained still. 

I had a lumbar puncture after the holiday weekend and discovered an opening pressure of 37, normal pressure readings with a patient laying on their side as I was is 10-18. I recall during that LP the radiologist drained 5 vials of CSF (Cerebral spinal fluid) then left the tap in place to drain for an additional minute. I was immediately started on acetazolamide (a-set-a-ZOLE-a-mide sometimes referred to as Diamox) to help keep the levels of CSF lowered.  At this point, I was officially diagnosed with IIH, (Idiopathic Intracranial Hypertension).

Due to the pressure on my optic nerves I did experience some permanent vision loss.  I regularily have Visual Field Tests performed.  I basically stick my head inside a drum and push a button every time I see a flash of light.  One eye is tested at a time, and the machine plots the results into a chart. The image below is representative of my VFT results on my right eye. I do have minor loss on the left eye, basically on the inside corner towards my nose. 

Sample Visual Field Test Result

The VFT illustration can be translated into my actual vision. Darkened areas are either non existent (toward the outer edges) or dim and shadowed when looking through my right eye.  The jagged appearance of the central white area translates into the actual view-port I have.  One thing I've noticed when having an eye exam is that I have to move and adjust my head, particularly when using the right eye in order to determine the parts of a letter or number that make up the whole.  The letter "C" for example, if I don't move my head around and bring the the open part of the letter into my central view, I can easily interpret it as the letter "O". 

A lumbar puncture (also called a spinal tap) is a procedure to collect and look at the fluid (cerebrospinal fluid, or CSF) surrounding the brain and spinal cord. During a lumbar puncture, a needle is carefully inserted into the spinal canal low in the back (lumbar area). Samples of CSF are collected. The samples are studied for color, blood cell counts, protein, glucose, and other substances. Some of the sample may be put into a special culture cup to see if any infection, such as bacteria or fungi, grows. The pressure of the CSF also is measured during the procedure. 

CSF acts as a cushion, protecting the brain and spine from injury. The fluid is normally clear. It has the same consistency as water. The test is also used to measure pressure in the spinal fluid. 

Acetazolamide is used to treat glaucoma, a condition in which increased pressure in the eye can lead to gradual loss of vision. Acetazolamide decreases the pressure in the eye. Acetazolamide is also used to reduce the severity and duration of symptoms (upset stomach, headache, shortness of breath, dizziness, drowsiness, and fatigue) of altitude (mountain) sickness. Acetazolamide is used with other medicines to reduce edema (excess fluid retention) and to help control seizures in certain types of epilepsy.

Intracranial hypertension is a neurological disorder in which the increased cerebrospinal fluid (CSF) pressure has generally arisen and remains elevated over a sustained period of time. It can either occur without a detectable cause (idiopathic intracranial hypertension) or be triggered by an identifiable cause such as an underlying disease or disorder, injury, drug or cerebral blood clot (secondary intracranial hypertension). It is frequently a life-long illness with significant physical, financial and emotional impact.

On the drive from Hamilton to Brantford after my lumbar puncture, I experienced another facial spasm, this time I managed to capture a picture while it was happening. 

facial spasm in action
note the downward pull on the left of the face

My next appointment was with the rheumatologist, Dr. Khalidi, what a great birthday present! My first visit with him was very informative, he had received the MRI results and the report indicated that I had signs of idiopathic hypertrophic pachymeningitis. He also received the LP results which showed that the collection of fluids had all tested clear. Next stop - yet another biopsy.

Idiopathic hypertrophic pachymeningitis is a rare disorder of unknown origin. It is a fibrosing inflammatory process that involves the dura mater. 

Head and Brain Cross-Section

I was referred to Neuro-Surgeon Dr. J. Wells, who met with me the first week of June. I was scheduled immediately to have a biopsy performed on the dura, the outermost membrane covering the surface of the brain, also called pachymeniges.


My biopsy was performed as day surgery, using twilight sedation. I managed to shock a few people by opting to have someone drilling into my skull while still awake, but the recovery process was that much quicker as I did not have to deal with the after effects of general sedation.

Results from my biopsy showed minimal non-specific inflammation, which allowed the doctors to rule out a few more things including lymphoma, tuberculosis and fungal infections.  This meant that Dr. Khalidi could confidently start me on immunosuppressive therapy as well as high dose prednisone (60mg/day started immediately after biopsy).  I was on the high dose for a month, then began to taper it by 5mg per week.
 
August 22 was another follow up with Dr. Khalidi after having an MRI the previous week.  MRI showed an improvement in the pachymeningitis.  I had also been started on cyclophosphamide, 200mg/day, the previously discussed immunosuppression therapy.  I was tolerating that medication fairly well, but continued to have the swooshing in my ears and daily headaches along with some side effects from the acetazolamide. I had noticeable tingling in my hands and feet and a slight metallic taste with some food or beverages.  I also had persistent nausea and constantly felt as though my head was under water due to the constant and rhythmic swooshing in my ears.

Cyclophosphamide is used to treat various types of cancer. It is a chemotherapy drug that works by slowing or stopping cell growth.  Cyclophosphamide also works by decreasing your immune system's response to various diseases. It is used to treat a certain type of kidney disease in children after other treatments have not worked.

The prednisone was doing its share of creating side effects also.  I had quickly developed the notorious Moon Face and hunch.  Weight gain was also predominate while on high doses of prednisone, I quickly regained the weight I had managed to lose previously, partially due to cravings for sugars to counteract the lower blood sugar effect of the medication. 

Very obvious Moon face - Thanks prednisone!

One issue I face with my condition, is the proverbial chicken and egg. It is not known if the pachymeningitis created scarring that caused improper CSF drainage, or did the increase in CSF due to idiopathic intracranial hypertension create the conditions for the pachymeningitis to form.

I was having blood work done on a weekly basis to monitor various levels.  I continued on my medications until November, when it was noted that there appeared to be changes in my kidney functions due to the acetazolamide, it was immediately stopped and I was referred to a neuro-surgeon to discuss the next step in my treatment.

The recommendation from Dr. Wells was to proceed with placing a VP (ventriculoperitoneal) Shunt to assist in draining the CFS from around my brain and help to reduce the pressure that was causing the whooshing and headaches.  I was booked to have the surgery performed December 19, 2012.  

Ventriculoperitoneal shunt (VP shunt)

The surgery wasn't too bad in my opinion, I was placed under full sedation and woke up a few hours later in the recovery room. My first comment when I was awake was "it's quiet", the pressure, pain and whooshing in my head were gone. I did have some post surgical complications, nothing major, just a few issues with tolerating the effects of the sedation.  

One thing I did learn with that trip to the hospital.  If you have unpleasant reactions, or don't tolerate certain medications well, list them under the allergy section, and explain your sensitivity. I had a nurse basically storm out of the room after bringing me Percocets for pain. When I advised him that I couldn't take them due to nausea and vomiting he was a little upset that it wasn't noted on my chart and that was what had been ordered by Dr. Wells.

I had an incision at the back of my head on the right side and another incision on my stomach. Recovery wasn't easy, but I have to admit, I had more pain and weakness from the tunnelling procedure and placement of the drain than I had in my head.  I spent Christmas day at my in-laws dressed in festive red pyjamas, because I was too sore to wear more. The staples and sutures were removed by Dr. Wells at a follow up appointment before the end of the year. 

Neurosurgical Shunts: Shunt operations are also performed when drug therapy has been unsuccessful. Shunts may be used to control papilledema and prevent vision loss, as well as to treat headaches that have been unresponsive to any medication. A neurosurgical shunt is a surgically-implanted catheter that is used to drain CSF into another area of the body such as the abdomen. A shunt lowers intracranial pressure by removing CSF to another site, where it can be absorbed.

Such a wonderful year, first official diagnosis received for my birthday in May, tons of weight gain for Labour Day, and now Merry Christmas, here's an operation for you.  I will admit, I had a wonderfully quiet (no swooshing) New Year's Eve!

2009 - Lots of good and bad

January - I got a little good news, my thyroid levels had returned to normal range with the help of medication.  The bad news, I would be on thyroid medication for the rest of my life. Diagnosis was Hypothyroidism.

Hypothyroidism is a condition in which the body lacks sufficient thyroid hormone. Since the main purpose of thyroid hormone is to "run the body's metabolism," it is understandable that people with this condition will have symptoms associated with a slow metabolism. 

Symptoms of Hypothyroidism

• Fatigue
• Weakness
• Weight gain or increased difficulty losing weight
• Coarse, dry hair
• Dry, rough pale skin 
• Hair loss
• Cold intolerance (you can't tolerate cold temperatures like those around you)
• Muscle cramps and frequent muscle aches
• Constipation
• Depression
• Irritability
• Memory loss
• Abnormal menstrual cycles
• Decreased libido

February and March continued pretty much as 2008. 

Constant 24/7 headaches with little to no relief. Towards the end of March I noted a marked increase in nausea and vomiting which I associated with the pain levels and a few new symptoms which seemed to be all part of the Hypothyroid issues. 

Rob's sister Amanda and her husband Steph welcomed the birth of my adorable nephew Ethan on March 7th. On March 30th, I did some mental math, added up some of the newer symptoms and while joking around with my sister Mandee about pregnancy decided a stop at the pharmacy was in order. Took the test the next morning, ironically, April 1st. Double line/positive results before the time to even check had passed. Followed up with family physician who confirmed that Rob and I were expecting! I was 38, soon to be 39 and honestly didn't think it was even possible.

Fertility and Hypothyroidism: If you know you have an under-active thyroid gland, talk to your doctor about having a baby. Your doctor will want to check your thyroid levels and make sure they are right before you start trying to conceive. If your levels are too low, you have hypothyroidism and may not be ovulating as you should. Taking the right dose of thyroxine, the hormone you lack, can restore your fertility.  

We told our families of the news in April and also contacted my Neurologist who immediately stopped all medication. The only medication I was allowed at this point was my thyroid medication, acetaminophen, Gravol and the occasional ibuprofen. This had the obvious effects of not being able to control the pain levels, resulting in increased nausea. I found myself spending more and more time in bed, between pain and weakness I wasn't able to do much. 

In May, I had my first visit with Dr. Giammarco in Hamilton ON. Her tentative diagnosis was New Daily Persistent Headache. A relatively new condition first described in 1986. However, further testing and diagnosis had to be put on hold until after the baby was born. Advised minimal use of over the counter analgesics and to get through the following months as best as I could, and to set up an appointment shortly after the baby was born. An MRI was scheduled for November as my due date was October 21st. The doctor did mention that with luck, pregnancy hormones could counteract and effectively cure the headaches and no further treatment would be required. 

New daily persistent headache (NDPH) is a chronic headache developing in a person who does not have a past history of headaches. The headache begins acutely and reaches its peak within 3 days. 

When I had Krystal, gender reveal wasn't a big thing, and considering this was Rob's first child, the anticipation of waiting for the delivery to find out if we had a son or daughter added to the excitement. Of course, our families (well his side more than mine), wanted to know, but we held firm, going with the tradition of selecting both a name for a boy and one for a girl. We decorated the baby's room with yellows and greens. 

Baby's Room all set up

Quilt belonging to Daddy when he was a baby

Things continued pretty normally (for me at least) until September. Rob had returned to school for his final year of Software Engineering Technology and I spent my days as best as I could. Resting, keeping to a darkened room, eating when I could. Mid September, I started experiencing contractions. Went into the hospital and ended up spending a couple days there hoping to hold off delivery for another month. I was given an injection to help mature the baby's lungs just in case, and sent home.

October 23, around 3 am, I called Rob home from an all night project session in order to head to the hospital. As my due date had passed, was told I wouldn't be leaving until the baby had arrived. Fortunately, Rob had some understanding professors who gave him (and his thankful team members) deadline extensions.

Getting some rest before the big event

I was in labour 16 hours, and was given an epidural which actually wore off partway through and had to be repeated. I didn't spend much time actually pushing, seems like once we got to that point things went pretty quick for me, and though my headache was along for the ride, at this point it was the least of my concerns.  

Still waiting

When the baby was born, we were happy to find out that we had another daughter! Rachel Josephine, born at 7:20 pm, weighing 7 lbs 11 oz, 20 inches long. I still remember Rob making the phone call to let his mother know she had a granddaughter, there was no way she was believing him, I had to confirm that she had her first female grandchild. (more below images)

Rachel Josephine Bray, Posing for her first photo shoot at 10 minutes old 

Meeting Mummy face to face finally!

Aunt Mandee and Big sister Krystal

Meeting Daddy!

Now that the baby had arrived, I was back on course for trying to determine the cause of my headaches (which didn't resolve with pregnancy) and hopefully get some relief. My MRI had been booked for November when I saw Dr. Giammarco back in May.  Contrast dye was used to ensure the best results.  After the results had been examined, I received a call advising me that I was being given yet another referral.  I was scheduled to go to the Eye Clinic at St Joe's Hospital in Hamilton in January.