Living with disabilities: When does atypical become normal?

When I was first diagnosed with deafness I was given a number of differential diagnoses. This means that instead of having just one diagnosis I was initially given two, with a third one being added later on.

Initially, I was told that the most likely cause of my hearing loss was otosclerosis. Otosclerosis is a gradual hearing loss where the small bones in the middle ear grow abnormally and as a result, can’t vibrate properly to conduct sound.

It is usually treated with hearing aids and surgery. My Ear, Nose and Throat (ENT) surgeon, in England, was one of the pioneers in this field. However, having completed a stapedectomy on a young boy, (who didn’t observe the after surgical care consistently which resulted in his becoming profoundly deaf), and given that I did have  a differential diagnosis my surgeon opted not to try a stapedectomy  on me. Instead, we watched to see what happened as I matured.

This was also because my audiograms also showed some hearing loss from nerve damage as opposed to being from bone conductivity which would be atypical in otosclerosis.

Which brings me to my second diagnosis: Van der Hoeve Syndrome. Van der  Hoeve Syndrome is related to Osteogenesis Imperfecta (OI) and now often just included within the different OI type classifications.

While my sclera is gray, as opposed to the typical vivid blue, I met the other requirements of early childhood onset of hearing loss, and minimal fractures in early childhood. As a result, stapedectomy was further not advised as it has a much lower success rate than in OI, or Otosclerosis patients.

When I hit puberty and started experiencing multiple fragile fractures, the differential diagnosis of Otosclerosis was determined to be even less likely leaving the diagnosis of Van der Hoeve Syndrome remaining. (A fragile fracture is when a fall from standing or lower height, results in a fracture.)

As my hearing loss progressed my audiograms showed increasing loss due to nerve damage as well as due to bone conductivity. I also had more and more problems with my sense of balance.

This is to the extent that I cannot pass a field sobriety test completely sober as I constantly compensate for my balance with my eyes. Once shut, I basically have almost no balance and can not walk in a straight line and will literally bounce off of walls when I’m tired.

Unfortunately, when you have a tendency to fragile fractures that tends to result in broken bones.

I spent most of my puberty in plaster casts, in slings and on crutches. I have long lost count of the number of broken wrists and ankles I have had. Throw in a hip, both knees, a handful of ribs and skull fractures, and numerous toes and that was puberty for me.

At this point, my differential diagnosis was changed. Otosclerosis came off the table and Meniere’s Disease was added as an alternative diagnosis. Meniere’s typically presents as 1) inner ear pressure 2) tinnitus 3) dizziness / vertigo  & 4) hearing fluctuation.

Over time it has since been determined that I am an atypical patient and that I have both Osteogenesis Imperfecta and Meniere’s Disease.

This means that I have all the weak bones/collagen issues of OI and the decreasing hearing loss with the added complications of random fluctuations in my hearing due to the Meniere’s, noises in my ears (tinnitus) and drop attacks where my balance fails to the point that I fall to the ground with no loss of consciousness.

OI and Meniere’s Disease are what I consider my primary disability. Together, they impact pretty much all of my life and every component of my body.

At 21, I added some new diagnoses to my collection.

I was at University and while I’d never been particularly physically active (pretty hard to be sporty when you fracture just walking down a corridor and being knocked into a wall by accident!) I was walking a great deal more than I ever had in my life.

I found myself getting out of breath just walking up a small hill. Without much discussion, I was given a reliever inhaler and told that I was probably asthmatic, but that I was atypical, in that I didn’t wheeze.

Unfortunately, that was the start of my asthma journey which has been characterised by this word ‘atypical’. I spent several years being admitted to hospitals, or spending hours in Accident & Emergency, while we tried to get my asthma under control. Often the situation being made worse by doctors not used to treating an asthmatic that didn’t present with a wheeze.

At 29 I was attending a conference in the USA and happened to get invited to a dinner sponsored by a pharmaceutical company that specialised in asthma medication. They asked for a volunteer to provide a patient case study for the purposes of discussion, expecting one of the medical doctors present to suggest a difficult patient. At the urging of my medical colleagues who knew of the difficulties that I was having, I presented myself!

As a result, I returned to England with a handful of research papers, clinical trial results, and a new medication regime.

Thankfully, my English doctor agreed to try my new regime and as a result, I gained ‘control’ of my asthma several years before that specific protocol was being recommended in England. When I moved to Canada in 2003, my Candian doctors were already using the protocol so it was easy to continue with the same levels of control.

In 2008, I had a severe relapse triggered by an environmental exposure at work. However, a few months of tests and investigations, adjustment of my medications and I was once again controlled, until my current situation.

As a component of my asthma is directly related to my allergies I also had extensive allergy testing conducted at 21, once again in 2008 and I’m sure that I will be facing them again in the near future. However, this results in that word ‘atypical’ on my file, once more.

In this case, it’s because I am not allergic to any of the typical allergens – dog, cat, dust mites, pollens etc. However, I have extreme allergies to penicillin and its derivatives and a number of other medications. Not only that but I have allergies to citrus so extensive that an exposure to a citrus based spray caused a massive anaphylaxis back in May, that I am still struggling to recover from two months later.

As a result of my ongoing breathing problems,  I am now seeing a Respirologist who has suggested that a component of my difficulties may be that I not only have asthma but that I also have COPD. A combination that is typically seen in the elderly, so at just 45 once again this makes me atypical.

Unfortunately, I can’t be tested for this until I can be weaned off the steroids enough that they’re not masking the test results; which hopefully will happen in the next month.

Age 21 was not a good year for me. I also had several surgeries that year. I had to have a breast lumpectomy and several moles removed. All of which were thankfully benign, but once again I was atypical in that I was only 21 presenting with possible cancers that weren’t normal at that age.

As you will have realised by now, my entire medical history is characterised by this word ‘atypical’.

The Merriam-Webster dictionary defines atypical as “not usual, or normal”.

So my question then is just when does atypical become normal?

If every condition that I have, I present as atypical, when will this be considered normal for me?

I’m currently undergoing tests for a number of conditions as we try and resolve my breathing issues. The problem being that as soon as we look at one area, to rule out one specific issue, another concern is identified and we have to explore another tangent.

As an example, while the CT Scan ruled out an embolism (good news) the odd improvement in my breathing seemingly related to the IV Iodine given as part of the CT scan suggested a possible  thyroid problem which needed investigating.

So while I’m very thankful for the number of specialists and doctors currently involved in my care working with me to try and resolve my breathing difficulties, and the other issues that we’re finding along the way, I am left with this lingering question….

When does atypical become normal?

When will we start from the point that I am atypical and not start from the point of comparing my results with ‘normal’ results?

Unfortunately, I do recongise that from a scientific perspective, the problem is that to do this would have required having a thorough baseline on me for all the possible tests that could ever be needed. Prohibitively expensive, invasive and exhausting and obviously didn’t happen.

So realistically, we are left with comparing my results to normal ranges and to my own values over time.  Which leaves me more than a little confused and concerned that something significant may be missed as a result. This tends to make me look somewhat paranoid but one of the things that I have learned over the years is to trust my instincts.

So as I continue to work through this situation, I will continue to advocate on my own behalf and to remind my doctors that I am not ‘normal’.

My ‘normal’ is that I am ‘atypical’.

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