My Personal Story written by Yvonne Heerema
In January 1993 I was a busy family practitioner in Calgary, Alberta and I thought that things were pretty
normal except that I was about 8 weeks pregnant and was getting over a cold that had turned into
sinusitis. I had one episode of severe dizziness at the end of January. I was more tired than usual and
had some trouble focusing on things, but I blamed all my symptoms on early pregnancy. My family,
however, had a more significant awareness of what was occurring, and on February 10, 1993 my sister
rushed to my house after a bizarre phone conversation, during which I seemed very confused, and
brought me directly to my family doctor`s office.
My doctor was alarmed at my slow and abnormal thought processing and sent me straight to the
hospital where I was admitted. In hospital I was found to be quite confused and had lost most of my
short term memory. I became dizzy and rapidly lost my coordination when walking. Shortly after
admission I developed nausea and vomiting and required an intravenous drip to correct dehydration.
There was a series of lab tests, an electroencephalogram, lumbar puncture and a MRI of my head. The
tests showed general slowing of my brain waves while the MRI showed widespread abnormal spots
throughout the brain. The spinal fluid had an unusually high protein content, no white blood cells and no
sign of infection.
My mental functioning decreased significantly during the first week of hospitalization and I was treated
with intravenous steroids for three days (pulse methyl prednisone) followed by oral high dose steroids
(Prednisone 8o mg daily). An initial diagnosis of atypical multiple sclerosis was made and I was
discharged to be followed up in the multiple sclerosis (MS) clinic. I was too ill to worry or think while in
the hospital and just slept. In truth I had a severe sickness of the brain which is called encephalopathy
and I had lost the ability for normal thought.
My husband, who was travelling at the time, returned to Calgary and was a major aid in obtaining history
and ensuring that I received ideal medical treatment.
When I was seen 5 days later at the clinic I still had problems with my memory and my walking was still
very difficult, although improved, and the decision was made to decrease the steroid dose I was taking.
On March 5, 1993, when my prednisone dosage was at 40 mg daily, I was readmitted to hospital due to
rapid worsening of both my mental status and my gait. I was having hallucinations, and my speech was
hard to understand. I was significantly dehydrated due to persistent vomiting. There was no change in a
repeat MRI or the spinal tap (LP). My neurological exam now showed weakness on the left side of my
body. Once again I was treated with high dose intravenous steroids and was discharged on 60 mg of
prednisone daily.
Follow-up at the MS clinic a week later showed an improvement in my mental functioning as well as
better coordination and balance when walking. I still had some confusion and episodes of poor
judgement. I had developed a pink spot in the middle of the vision of my right eye (scotoma), and now
had a constant aching headache. Neurologic exam showed an improvement in my weakness with no
obvious other findings. I was continued on the 6o mg of prednisone daily. Shortly after that visit I
developed hearing loss mostly in my right ear and some ringing in my ears (tinnitus), and was referred
to an ear specialist. I started to notice an urgency to urinate that could not be “held” as long as was
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necessary and I had to cope with accidents; a gynaecologist with an interest in bladder problems was
scheduled to see me.
I saw the ear specialist in mid April, about one month after I first noticed the hearing loss. At that time I
was taking only 30 mg of Prednisone daily, and it was unclear when the dose had been decreased. An
audiogram revealed mild sensorineural (nerve damage) hearing loss (40 – 60 dB) on the left with good
discrimination of sound, and profound hearing loss on the right with very poor discrimination. At this
point I was totally unable to hear normal conversation and felt lost in a confusing sea of sound. It was
both frustrating and devastating to know that I might never hear properly again.
Testing at the bladder clinic revealed that I had a “neurogenic” bladder. This meant that although the
muscles worked well in the pelvis, I no longer had functioning nerves to the bladder and my bladder
could not hold urine properly anymore. Seeing a bathroom caused an immediate urge to pee with no
ability to delay. Psychologically, this was tough but physically my problem was mild and could be dealt
with by good knowledge of bathroom locations and frequent trips to them (most of the time).
In my eight week absence from my practice from February until March my office nurse had been able to
find locums (substitute physicians), but I had to make long term plans. When I was given a diagnosis of
MS I thought that I would be able to return to work part-time. I knew that I had to urgently find more
permanent coverage for my office. I was fortunate to find a female physician with much the same
characteristics as myself that was willing to start working immediately. I still had to find locums for the
other half but this would help me long term and after my delivery. It felt good that I was able to make
these decisions, but I had help from my office staff and my husband.
During all of these struggles, my pregnancy was at the forefront of my mind. I did not like taking so much
prednisone while I was pregnant, but my body certainly seemed to need prednisone. My pregnancy
seemed to be going well even though I was experiencing some side effects from the prednisone use. My
mind was working better although I still had many moments of confusion and difficulty making decisions.
Desperate for help, as our “nanny” had quit (for other reasons) when I was first admitted to the hospital
in February, my husband had been able to hire a series of temporary nannies, then was able to locate a
permanent live-in nanny to help with me and the boys. She was efficient at household tasks and very
caring with the children.
Visits at the MS clinic continued and on March 21, 1993 even on only 30 mg of Prednisone daily I had
shown a slow steady recovery. I continued to have mild gait imbalance and a mild memory disturbance
with persistence of the scotoma, hearing loss and tinnitus (ringing in the ears). An MRI done that day
still showed numerous “white matter lesions” with a decrease in some areas and a new spot in one.
Because my mental function was improving it was decided to decrease my steroids again so I would be
off them in 6 weeks.
In mid – April, 1993 when my prednisone dose was down to 15 mg daily my mental functioning and my
hearing decreased dramatically. This prompted an increase in the dose back up to 60 mg daily and this
dose improved my symptoms. Once again I was forced to realize that this would be a slow recovery.
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When reviewed at the MS clinic on April 22 several things were noted by my neurologist. First was that
my disease was steroid responsive; it improved quickly with steroid treatment. Second was the steroid
dependency my disease exhibited; a minimal dose of 30 mg per day was essential for my body to
function. The next symptom which was always present from the start although not mentioned yet was a
total body macular rash that had the same steroid responsiveness and dependency as my other
symptoms. Concern over these atypical features led to a consult to see a neurologist in Ontario.
The neurologist in Ontario spent a lot of time with my husband and me reviewing the onset and course
of my disease. I had similar cognitive problems (e.g., memory difficulties and confusion) as had been
seen before with some impairment of eye movements, increased reflexes and tone of my muscles and
obvious hearing loss. He felt that the rash was a vascular problem in the skin and was a manifestation
(a feature) of my neurological disease. After thorough review of my case and MRI findings he was
certain that I did not have MS. His diagnosis at that time was a much more rare disease which had only
been seen in 16 other patients which was labelled ``RED M Syndrome`` (which stands for Retinopathy,
Encephalopathy, Deafness associated Microangiopathy Syndrome). This name was later changed to
Susac’s Syndrome, named after Dr. John Susac a neuro-opthamologist in Florida who had initially
described and reported two patients with this disease. A neuro-opthamologist did a complete
ophthalmologic (eye) exam and noted thinness of the arterioles in the retina, but no sign of active
vasculitis.
I was relieved to have a more complete explanation for all the symptoms I had, and a different
diagnosis. At that time Susac’s syndrome was thought to remain active for about 18 months to 2 years
then be mostly quiescent leaving you with the defects you obtained while you were acutely ill. I was to
continue the prednisone at 60 mg daily for the entire pregnancy, then change to an immunosuppressant
(Azathiaprine) once I had delivered. This disease required a high steroid dose (with slow tapering) to
prevent symptoms from recurring and prevent long term damage. My husband and I felt grateful that I
had been treated as aggressively as needed right from the point of diagnosis.
Once I returned home to Calgary I underwent several tests to confirm that my baby was developing
properly. Because Susac’s syndrome is associated with small blood vessels I had ultrasounds of the
baby’s placenta, kidneys, heart and brain to ensure there was no lack of blood flow and resultant slow
growth. All the tests came back normal. I showed healthy weight gain and did as much exercise as I
could with my poor gait and difficulty walking. I enjoyed being pregnant and focused on my baby being
born 100% healthy. I was frustrated by my inability to work as I remember actually feeling quite “normal”.
At this time I did not have true awareness of my mental status.
Reviews at the MS clinic showed no change, and I remained ataxic (difficulty with walking) with mild
cognitive deficits and severe hearing loss.
My regular pregnancy checks revealed that I had sugar in my urine tests which meant that temporary
diabetes due to the combination of prednisone and pregnancy was occurring. This was no surprise to
me because high steroid dose does cause your body to process sugars poorly, and I had been on them
for the entire pregnancy. I was asked to start checking my blood sugar levels to see if I would need to
start taking insulin because babies born to mothers with high blood sugars develop obesity and other
medical problems. 2 days later, when I was only 32 weeks pregnant, I realized that my membranes had
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suddenly ruptured. This forced admission to the hospital. Although I had ruptured my membranes,
fortunately there was, fortunately, still lots of fluid around my baby. I was admitted to have fetal
monitoring twice daily and drugs to mature the baby’s lungs. I knew, from my past experiences as a
doctor, that I would not be going home until I had delivered.
At 34 weeks I started having mild tightenings and the baby’s heart strip showed significant slowing with
them. I was induced and several hours later delivered a healthy baby boy (on August 08, 1993). He
weighed just less than 5 pounds and needed only a few days in an incubator and was fed by tube until
he was stronger. Infection was a concern due to my steroid use and the length of time I had been
leaking amniotic fluid. He was placed on antibiotics until the blood cultures came back negative for
infection.
The day after delivery I was started on azathiaprine (Imuran) and the dosage increased while my
Prednisone dosage was tapered off. Breast milk could not be used because the new drug could cause
serious problems with the baby. I was able to go home 3 – 5 days after delivery. My house was a short
walk from the hospital so I was able to visit my son until he weighed enough to come home with me.
I continued to be followed at the MS clinic and had no difficulties weaning off the prednisone or taking
the azathiaprine. I was referred to my first neuropsychology appointment as I was keen to find out if
there was any chance of returning to work. The appointment showed that my intelligence level was well
below where it was expected to be and most tests were completed with difficulty. The decision was that I
could not return to my practice.
I felt that I had coped fairly well since I became sick, but I always expected to be able to return to my
practice. It was obvious I would not be doing that and decided to find another female to take over the
other half of my practice. Luckily I found someone quickly and sent a letter to my patients explaining why
I was unable to return. Now I would be able to focus all my faculties on raising my 2 boys, both of whom
were in diapers. My husband had to assume all night feedings as I was extremely tired and usually in
bed by 8. He must have felt that he was looking after 3 kids!
Over the next 6 months I tapered off my prednisone and continued on the azathiaprine (Imuran) at 150
mg daily. I had my second neuropsychological evaluation which noted an improvement in my cognitive
functions to the 65th percentile of my physician-peers, but I still had significant problems with
constructional and sequencing tasks, and again I was advised that it would be unwise to attempt to
return to my medical practice. I did not waste time agonizing or being angry about that decision although
I was frustrated and missed my practice a great deal.
When I had successfully weaned off all my prednisone in mid May 1994 and had no recurrence of
symptoms it was decided to taper off the Imuran. When my dose got down to 25 my daily I had
worsening of my gait and significant fatigue. A repeat MRI was done that showed a new lesion in the
brain, which prompted another lumber puncture that showed an elevated protein. My neurologist knew
this meant that there was still active disease going on (19 months after the onset). My Imuran dose was
increased up to 100 mg daily. A repeat MRI was done in 6 months which showed stable lesions in the
corpus callosum and deep ventricular matter, but the new lesion was gone. I remained on Imuran at 100
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mg daily for the next 18 months. During this time my mental status was stable but the ataxia persisted to
some degree. I started to taper off the Imuran, and had discontinued it by November 1996 (3 years, 6
months from initial presentation).
In August of 1999, approximately six and a half years after my first hospitalization (in February, 1993), I
returned to the MS clinic due to progressive weakness and difficulty walking because of stiffness and
awkwardness in my legs. This problem which was called spasticity had no obvious reason for occurring.
To help control the problem I was started on Baclofen. A repeat MRI was stable with no new changes.
This development was very annoying! My mental functioning was improving all the time but now I was
stuck in a body that could not move smoothly. I describe the symptoms as being similar to walking
through a jar of peanut butter but I would never make it to the other side!
This spasticity with some associated pain continued to worsen from August 1999. A repeat lumbar
puncture in March 2000 was normal, and repeats MRI’s showed no significant new findings. A MRI of
the entire spine was done and was also normal. My neurologic testing showed significant spasticity and
hyperreflexia of my reflexes in my legs. My neurologist was quite unsure why I was showing these
symptoms and suggested that it might be due to “secondary axonal degeneration” (after the initial injury
of Susac’s syndrome to the nerves). But, the true cause of my spasticity has remained a mystery to this
day.
My dosage of Baclofen was gradually increased until I was taking more than the usually recommended
dose. This was done just to try to control my symptoms. I made the choice to decrease the Baclofen and
carefully observe my spasticity. When I tapered off the Baclofen I had no real change in my spasticity
but did notice that I had an increased awareness of myself. This drug does not cure any disease but
only is meant to control a symptom. I have been off all medications now for over 2 years and my
spasticity is still a major problem, but I have learned to cope with it. I am somewhat limited in the
distance I can walk, but sometimes go farther than I can easily go because I love to walk.
My boys are now 16 and 17, and both are doing very well in school, sports and extracurricular events.
They learned to speak quite loudly due to my inability to hear them. My husband and I decided to
separate in 2004 because we had problems relating to my illness that we were unable to manage. My
hearing loss affected our communication terribly. I had some personality changes which were inevitable
with the disease. We have been able to maintain a good relationship and the boys are happy moving
between our two houses.
Being diagnosed with Susac’s syndrome has affected my life dramatically. When I was first diagnosed in
1993 I was too ill to even realize how sick I was. The brain illness (encephalopathy) limited my ability to
think properly for several years. I know that I was very stubborn and often refused to admit or believe
that I was wrong about anything, but being stubborn also helped me to make it through some difficult
periods during my illness.
Nobody with normal hearing can appreciate how much a hearing loss affects your life. It is virtually
impossible to have conversations in the hall or in a crowded room. It is far too easy to misinterpret what
has been said if you didn`t catch all of what was said due to presentation or hearing loss. The first year
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of hearing loss was the most difficult but my body adjusted, I paid closer attention, started to read lips
and rapidly became more able to cope with the hearing loss. I tried a hearing aid but found that it
magnified every sound to such an unbearable extent that I refused to wear it. I later referred myself to
an ear specialist for a cochlear implant thinking that would be my answer. I discovered that an implant
destroys all your normal hearing and replaces it with a better, but totally mechanical one. My left ear
functions with only minor hearing loss, so I decided to be happy with what I had.
Before my illness I was an outdoor enthusiast. I ran, swam, hiked and windsurfed whenever I could. The
first few years after I became ill I could do nothing more than walk, but then I resumed swimming,
walked twice daily with our dog, and started indoor climbing with a friends encouragement. I
occasionally go hiking in the mountains again. My mobility is hampering my activity more than I would
like it too, but I continue to try to do as much as I can.
I know that our mind has an active part in making us well, so I have learned to start each day with
positive affirmations and make sure that my internal dialogue is a continuous stream of what I DO want
to happen in my life rather complaints about what is wrong. I also take the time to show gratitude for all
the good things in and around my body. This practice has had an influence in making me a happier
person, and I recommend it to everybody.
A few years after my illness began I discovered that my reaction to things around me had changed. I
chose to follow a vegetarian diet and became more conscious of what I was eating. I began reading
about disease, healing, and the mind – body link. I have read: ``the Biology of Belief by Bruce Lipton,
``the Brain that Changes Itself’ by Norman Doidge and Love, Medicine and Miracles`` by Bernie Siegal.
There are many similar books available. These books were influential in changing my belief regarding
illness and our ability to recover. I`d recommend them to everybody who has an interest.
I can look back at my illness now without the pain and loss I initially felt. The loss of both a job I enjoyed
and my marriage were major devastations to me, but time is a great healer. The initiation of the Susac’s
syndrome website came as a complete surprise to me, and helped with my understanding of the
disease that I developed 17 years ago.
I know that the website will help raise awareness of Susac’s Syndrome. It is essential that Susac’s
syndrome be recognized as soon as possible. Treatment needs to be aggressive and complete to
prevent long term problems. I am thankful that my treatment followed the current guidelines well even
though I was one of the initial Susac’s syndrome patients.
I am excited to be part of the Susac’s Syndrome Website and know that the past 17 years have given
me a lot of personal background in dealing with the disease. Please note the section on the Website
entitled Clinical Study. This section describes the Susac’s Syndrome International Collaborative Study
that we will soon be launching. This study will enable us to learn more about Susac’s syndrome. We
look forward to your participation in this study. We will make an announcement on the Website when the
study is launched.
I am looking forward to ‘meeting’ other people who have or have had Susac’s syndrome . I am unable to
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give medical advice on Susac’s syndrome but welcome your personal stories, the problems you have
encountered, and the insights and wisdom you have gained.
My email address is: [email protected].
Sincerely;
Yvonne Heerema
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