Why Are Medical Terms So Confusing?

Why do some medical terms/diagnoses have to be SO complicated?! Here is a rundown of my understanding: 

Yesterday I met with my new Ophthalmologist for a basic checkup of my eyes and to try and narrow down a diagnosis, since it's been kind of in question of late (last few years). 

So, at age 21 I was diagnosed with early onset Age-Related Macular Degeneration (AMD). 

Then a few years ago (age 36ish), a different ophthalmologist diagnosed me with Familial Drusen. 

Here's the start of the complicated terms.

The term "Familial Drusen" has two different, and separate, meanings. There is the umbrella term for a group of diseases, but there is also a "Primary Familial Dusen" (which is often simply referred to as Familial Drusen), that means a specific disease under the umbrella of Familial Drusen. THAT particular disease also has two other names: "Doyne's Honeycomb Retinal Dystrophy" (DHRD) and "Malattia Leventinese". 

This was not explained to me. 

                   Familial Drusen

• Primary Familial Drusen = DHRD = Malattia Leventinese. 

So I got genetic testing done for the disease, which came back negative. At that point, it had not been explained that Familial Drusen also meant a group of diseases. 

At that time, I was told that whatever my disease is has developed Geographic Atrophy (GA), and had probably started developing it years earlier (likely age 33 or earlier). Now, anywhere you look, GA is most often defined as "the end-stage of AMD" (which docs now believe I do not have). It takes several prompts and searches to figure out that it's essentially cell death and causes permanent patchy blindness, most commonly associated with AMD. So the term is primarily used to describe a stage of AMD but it is also termed as the advancing of eye disease outside of AMD. 

This was also not explained to me. 

So until I found out the latter definition, it seemed like I was being told that I have this Familial Drusen (disease) even with a negative genetic test but also have GA which is the end stage of AMD, but that I don't have AMD. 

With me so far? 

Next: Basal Laminar Drusen. 

Yesterday, the above term was used as a diagnosis. 

But here's the kicker. 

Basal Laminar Drusen (BLD) is also called Cuticular Drusen (CD) and it's also referred to as Gass Syndrome (an eponym). 

Basal Laminar Drusen is termed as a specific phenotype of drusen in AMD. What took me a while to unravel is that it is also the term for a disease under the umbrella of Familial Drusen. But under that umbrella, it can also be called Glomerulopathy-Associated Drusen (GAD), because of its high association with a kidney disease called Membranoproliferative Glomerulonephritis type II (MPGN type II), which also has another name, which is Dense Deposit Disease (DDD), and it is under the umbrella group of diseases called C3 Glomerulopathy. I do not currently have this kidney disease, but the ophthalmologist did suggest that I get routine kidney function tests from now on. 

BLD is considered less severe and is considered to develop more slowly. 

However, it feels strange to have a doctor tell you that you should be optimistic because the prognosis is slower and less severe in this disease when you're already considered to be at the end stages of the disease... 

BLD can also cause GA, but apparently it's highly rare, especially in patients under the age of 60. Again, tough to hear that the prognosis is *supposed* to be better than AMD when you're already at the end of either disease at age 39. But I digress. 

So: 

                    Familial Drusen

• Primary Familial Drusen = DHRD = Malattia Leventinese. 

• BLD = CD = GAD

It gets even more confusing, if you can believe it. 

So my ophthalmologist in the appointment said that the "pattern" in my eye is the "starry sky pattern", and that fits with the diagnosis of BLD (or CD), and that it is completely separate from AMD; that AMD is an entirely different disease. BUT, she then sent me home with some literature she printed from the internet which defined BLD as a phenotype of AMD. It also defines it as being its own entity, but on the "spectrum of AMD". So is it part of AMD or separate from AMD? 

Being on the spectrum *seems* to mean (after much reading and unwinding) that it looks and acts exactly like the basal laminar drusen (phenotype) found in AMD with a similar (but often slower) disease process, but it occurs in younger individuals and is not AMD. 

Unfortunately, none of this was properly explained to me in person (I mean, who has the time???) so I had to try and unravel the varying websites and definitions after hours of searching. 

I hope that my understanding is now correct - and please let me know if I have misunderstood something! 

So it looks like my diagnosis is: 

Basal Laminar Drusen (or Cuticular Drusen), the Glomerulopathy-Associated Drusen (even though I do not currently have this kidney disease). My BLD is a disease under the umbrella of Familial Drusen (not to be confused with Primary Familial Drusen: the disease also called DHRD or Malattia Leventinese), and not the phenotype for AMD. 

In summary: there are multiple terms for a single disease, there are terms that are used as a specific phenotype of one disease AND used as a capital letter Disease Name, and there are terms used as a Disease Name as well as an umbrella term for a bunch of different diseases. 

Why do we do this? 

And why do we need 3 names for each disease? One name, another name (for fun?), and then the eponym??? 

*I would also like to mention that there is the capital letter Macular Degeneration which refers to Age-Related Macular Degeneration, but also the lowercase term of "macular degeneration" which literally means degeneration of the macula which happens in both AMD and in diseases under the umbrella term Familial Drusen. 

Slowing Down

One thing I used to say, and a phrase I hear often from many individuals with chronic illness, is "I don't let my illness slow me down". 

People say it because it brings a sense of determination and resilience, but it's not really realistic is it? 

I mean, we push and push and push, and maybe we don't let it steer us entirely away from our goals and aspirations, but no matter who you are, if you have active disease, it's bound to slow you down. 

Maybe with all of that pushing, it pushes you right into the ER when a flare-up becomes unmanageable. Or maybe you crash and have to take a week off from work, or even a day or two. In that sense, illness definitely slows us down, no matter how hard we fight against it. 

In truth, I have no more true control over my body than I do the weather. 

The disease is going to do its thing. Yes I can put mitigation measures in place, I can make educated predictions on future forecasting and give myself reasonable protections, but the disease is a pathological part of me that isn't fully understood, so how could I ever hope to achieve true control?

The other problematic side to the 'not letting it slow me down' coin is the inherent negative attribute: does that mean that I am a failure if I have let my disease slow me down? 

The answer is an emphatic NO. 

Slowing down due to illness is not a personality flaw or a failure in determination. Your resilience is not based on how you "allow" a disease to affect you (like you could control that anyways). Your resilience is based on facing each day knowing that your mere existence is painful. Your resilience is finding happiness regardless of the disease that is ravaging your body. 

Just the rebellious act of having and working towards goals as well as finding joy is, in truth, resilience and a quantifiable measure of success, in my opinion. 

I am successful, not because I 'didn't let my illness slow me down', but because I keep going despite the inevitability of being slowed down, having my direction changed, or even being roadblocked by illnesses that I cannot control. 

If you have chronic illness, sometimes just getting out of bed is an accomplishment worthy of applause. Never forget that. 

Head Pain

In July this summer, I woke up one morning with a brutal pain in my head on the right side. I thought it was maybe a migraine, but it didn't feel the same as my other migraines. The pain felt more superficial, and the pain also included other areas of my face, like my cheekbone, brow bone, and jaw. 

I tried multiple medications, massage therapy, ice/heat packs, kept the lights off and sound down, and nothing would touch it. I let it go on for nearly a week before I finally sought treatment at the hospital. 

They tried multiple treatments in the emergency room, and still nothing would touch the pain. So I was admitted to the neurology unit on a Sunday and was hospitalized until the following Saturday, having exhausted the treatments and scans that they could think of. I had a neurology team and a headache specialist team working on my case. 

There were multiple problems: 

1. My symptoms sounded like a migraine, but it didn't feel like a regular migraine, and I couldn't sufficiently describe what I was feeling or what made it feel different from my migraines

2. I couldn't take certain treatments due to allergies/intolerances or because of other conditions

3. The scans they were doing showed nothing

So once we knew nothing nefarious was going on (like strokes, or blood clots, or pressure in the eyes, or other severely emergent issues), I was discharged with an appointment with my neurologist and a referral to a special headache clinic. 

The following week I was put on Prednisone for a two-week course to see if that would help. Steroids generally cause severe migraines when I take them now, so we avoid them if we can, but we were all getting desperate. So I received nerve blocks to help prevent my regular migraines and crossed our fingers that this would do the trick. One more scan was also ordered - to check my TMJ - the jaw joint. One of the team members thought that I may have a TMJ disorder where the joint is misaligned. 

The Prednisone did its job - the pain has been greatly reduced, yet still there. 

Well, I received the results of the TMJ MRI. Turns out that I have bone degeneration and bone spurs on the top part of where my lower jaw meets my skull. 

It's possible that this is all caused from teeth grinding, even though the Botox has been helping to reduce/prevent that for years, and there was no evidence of active inflammation (although the MRI was done after the Prednisone treatment, so that could be coincidental). All of this to say that bone degeneration and bony spurs in my jaw, especially being aggravated, is the likely culprit of this severe head pain. 

I have my doubts that the only causal factor is teeth grinding, as my body seems to like collecting autoimmune disorders (and apparently, ones that cause random extra bone deterioration & bone formation), but I'm hoping that that's all it is. I already get Botox injections to help prevent teeth grinding, and I have an appointment to look into a mouthguard to use at night to help prevent (or slow) further damage. At least we know what's causing the bones in my face to hurt. 

As a point of interest: 

I have Ankylosing Spondylitis, which causes bone deterioration and then excess bone growth where it's not supposed to be, within the SI joints and the spine. 

I also have Otosclerosis, which is excess bone growth within the middle ear on the stapes bone. 

I have mandibular tori, which is extra bone growth within the mouth. 

And now I have bony spurs - extra bone growth where it's not supposed to be - in my jaw. 

Weird.