Rare Disease Week: //my own health journey

I'm beginning this post on Feb 23, a few days before we recognize Rare Disease Day.

I decided to finally write about my own health because, well, it is currently relevant in my every day.  My own health has officially consumed me. 

And though I am unsure that what I am struggling with is a rare disease, I do know that it is a burden I have learned greatly from and want to begin to share my journey, if even just in part.  If for nothing else, maybe one day Nora and Braden can read my words here and understand what I, as their young mom, experienced. 

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I suppose in order to paint the entire picture of what I have walked through in the last year (and more importantly the last several months) I have to begin with the foot surgery from hell. 

For several years, off and on, I had dealt with pain from what I assumed was a 'tailors bunion.'  After Mabel died, the pain got to the point that I could hardly wear shoes or exercise, which was (I was certain) the only way I would survive coping with her death.  I saw a podiatrist.  He confirmed that it was a bunion, that I could have surgery if I had tried everything else, that the surgery was quick and easy and the recovery for someone 'young and healthy' like I was would be a couple weeks. 

He reassured me that I would have minimal pain and would be back to myself in no time. 

Just like with any surgery, there are risks and it was my foot so I was extremely nervous.  But I felt like I didn't have a choice; I needed to be able to work out and I wanted to enjoy walking, being outside and playing with my kids.  I had also heard from several people who had bunion removal surgery and had great success, so I scheduled the procedure.  That was last March.

Several things went wrong from the very beginning when it came to the healing of my foot but the story itself is long & detailed.  The short of it is--I knew immediately that the pain I was having after surgery couldn't be normal.  It turned out that I was right.  But before getting to the bottom of it; to the root of my pain,  I was treated, for several weeks by my physician like I was being dramatic. Until it was made clear to him that my body was having an actual physical reaction to the vycral (deep) sutures that he had placed in the wound during surgery, he took terrible care of my foot and of me as his patient.  This resulted in a lot of really great home care (by Ashley), over-the-phone advice (from my friend Nick), and eventually many trips to the wound clinic where they helped heal my foot.  It was actually the physician at the wound clinic who's final advice to me was that maybe I should follow-up with a rheumatologist with the concern of a connective tissue disorder. Ironically, a rheumatologist is just about the only specialist I haven't seen in the last few months regarding my health.

 Essentially it took 16 weeks for the surgical wound to fully close and even now, I have a lot of pain, tenderness, and sometimes discoloration in the area.

This non-healing was so discouraging and so painful.  Of course it taught me many lessons; none of which I really had the patience to want to learn.  But I was left with no choice for many weeks while the pain radiated through my foot in a way I had never experienced before.  I tried to push through but eventually I gave in and tried to listen hard to what the Lord may show me through it. 

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Fast forwarding some...to about July of last year, (really just a couple of weeks after my foot wound finally closed).

Almost overnight I suddenly began urinating really frequently.  And not just in an annoying kind of way.  In a control-your-life kind of way.  I was getting up several times through the night almost immediately and before I knew it, I was literally going to the bathroom every 20 minutes (and I wish I were exaggerating).  I have a history of recurring UTI's but this was something new.  I remember the exact day it started because we were vacationing in Michigan at the time.  During this same week, I had the worst migraine that I have had in years.  It lasted for almost the entirety of our trip. 

Months passed but by winter I had started working and noticed just how disruptive the whole issue had become.  I saw my primary care doctor, & asked him to refer me to a rheumatologist.  Instead he ordered a rheumatology blood panel.  All of that came back normal, but I continued to pursue other specialists outside of his care as well. 

Sometime around Christmas (I remember specifically because the house seemed darker and we had twinkle lights on the tree and in other areas of the house) I started to notice that my vision was different.  Especially in the evening hours I was having a hard time seeing across a room.  I almost felt dizzy and realized that I could tell when objects were moving with my eyes (I have congenital nystagmus which causes my eyes to shake naturally.)  This has always been a known part of who I am.  I immediately have to tell new doctors and nurses that I was, in fact, born this way so that they don't immediately worry that I have a brain tumor or another neurological issue causing the involuntary movements in my eyes.  My nystagmus, in general, has never caused disruption to my life.  It has never been a real issue for me.  It tends to get worse if I am tired, anxious, in pain, or lying (so my mom says,) but otherwise I was always under the impression that I had adjusted to the shaking movements at a young age and it wouldn't be an issue later in life.  I have had several brain MRI's through the years and saw many specialists when I was very young concerning my eyes and vision.  When I was a baby my parents took me to see a specialist in St. Louis who informed them that the nystagmus was likely genetic (he assumed my siblings would be born with the same issue) and that I would potentially be blind as an adult.  The truth, so it seems, is that there just wasn't as much research on the entire disorder as there is now.

Right around this exact same time, I began to notice a drastic change and a huge increase in my already chronic, low back pain.  The pain was a little higher than usual (I have had and been treated for pain in my coccyx area since having Nora.)  But this felt deeper, different, more full, hard to explain.  At the beginning of January, after working through the pain during the holidays, I quit my job, explaining that I just had to find answers for why I am not feeling good.  My boss was amazing and supportive and I'm so thankful.
As time has gone, and a few months have passed, the back pain is now my most intense complaint.  The pain is constant.  I wake up with it, it gets worse as the day goes on and by night my entire low back is burning; literally a searing pain deep inside of me.  I have never experienced something so painful and consuming in my entire life.  There is no relief and I'm totally exhausted because of it. 

Speaking of exhausted, this was yet another new symptom that seems to have accompanied some of the others.  I have never in my life felt so painfully tired.  To say I have fatigue is such an injustice to the type of tired I am. 

But backing up a little, somewhere in the midst of all of this happening around Christmastime, I started measuring my urine output at home and keeping track of how often I was going.  And then one weekend at work I got so dizzy and had such a bad migraine that I had to leave and couldn't even drive home.  My brother came to get me and I ended up at the ER, twice in one weekend. 
A lot of my bloodwork was normal (but a lot of it on the very lowest end of normal). 

Coming out of the ER and going into the next week I was determined to get answers.  I made an appointment and got in to see my OB (also a good friend).  I asked her then if she would run a few tests on me regarding the urinating and other issues.  When these test came back, they revealed that my cortisol levels were extremely high.  This sent my on a journey that I knew could end up one of two ways...

-I would end up being told that long term stress had caused my adrenal glands to fatigue, resulting in my symptoms. (valid, indeed.)

-Or there was a bigger issue causing my cortisol to be high, such as a tiny benign tumor on my pituitary gland. 

I was referred to an endocrinologist who did several tests.  My cortisol is consistently high but can be suppressed with a low dose of steroid overnight, thus leading him to believe there was no reason for a brain MRI in search of a tumor. 

But at this point, just a couple of weeks ago actually, I had a couple other hormonal issues come up that led us back to fighting for an MRI on another front which ended up being really great timing because during this same week, I had an appointment with my ophthalmologist (for my eyes). 

This man is brilliant.  I have been his patient since I was just a little girl with shaky eyes.  But this appointment was different.  Immediately upon him doing my eye exam I could tell that he was concerned and thought something had changed regarding my eyes.  My vision was clearly worse but he said that my nystagmus had distinctly changed as well.  He left the room to call a neuro-ophthalmologist, the only one in our state, to try and get me in to be seen as soon as possible. 

He spoke directly to the neuro-optho before I left his office that day and had me set up to see him on Tuesday the following week.  In the meantime, I had a brain MRI. 

The brain MRI was read as unremarkable.  There is a notation of a slight Chiari Malformation but that has been read before.  I did, however, take the images to my appointment with the neurologist the following week so that he could not only read them but also keep them on file. 

That appointment went well overall. My vision is bad and has gotten worse.  He also seems concerned that I can now tell when my eyes are shaking, causing visible disruption to my sight.  This is likely leading to some of my migraines and is just a concern in general.  He made a couple of remarks about my MRI and did a full neurological examination and wants to see me back in 2 months.  I have had trouble 'finding words' but I have been associating that more with grief than anything else, at least up until this point.  In the last couple of months my mom has made the comment that she wonders what new medications I'm taking because I seem forgetful and also like generally slower in my thinking. 

The neuro-optho's main concern came down to Mabel's diagnosis of NCL and essentially saying that because we know so little about it, and genetics can be so unpredictable that he would like for me to be tested.  He wanted to do more 'investigating' and would see me soon, he said.  I left there that day feeling conflicted because what I know about Batten disease (from research and experience) and what I'm experiencing in symptoms do not necessarily line up.  

 But, I was encouraged by several very educated people in my life to pursue this route regardless of what I think is possible or impossible. 

So I sat with some of that information for a few days.  And then late one night I reached out to a beautiful woman who was diagnosed with adult batten disease several years ago.  She has an unknown variant of a dominant form of the disease (Mabel's was always assumed to be recessive but we don't know that for sure.)

After speaking with her, she too encouraged me to make the call and have the testing. 

Within a couple of days I decided to get in touch with Mabel's geneticist and pick his brain a little. He's a genius and obviously my favorite, having given us Mabel's diagnosis after so much searching, researching, and advocating for her on my own. 

   Immediately he suggested we do a whole genome sequence on me.  Insurance companies are approving these tests more easily now, unlike even a few years ago and there's no reason we shouldn't do it, he said.  If for nothing else, it may reveal something about Mabel's mystery gene that we were unable to find when she was alive.  The truth is, Dr. S would have began genetic testing on me the moment he saw me if I would have let him.  My eyes being what intrigued him most, I believe.  And ironically, here we are anyway.

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Somewhere in the midst of all of that, I saw a urologist who diagnosed me with interstitial cystitis (painful bladder syndrome).  He started me on several medications, none of which have really helped the frequency or amount of urination.  He did a cystoscopy last week and my bladder looks healthy overall, which is good news. I have also seen a GI specialist for chronic constipation.  I follow up with that doctor next week.  The next step will be a colonoscopy sometime in the near future.   

I am wrapping up this post on Feb. 27th, the day before Rare Disease Day and the day where I am meeting with Mabel's genetic counselor and geneticist to learn more about the sequence that my daughter never had the opportunity to have but I now do. 

In just a few hours I will have my blood drawn and it will be sent away.  In a couple of months I will have more information about my genetic code than most humans ever even want to know. 

But I do.

A few years ago when I first laid eyes on Dr. S and he began to speak to me about my sick daughter, I knew that he understood what I had been feeling.  I knew that he and I were on the same page.  He said to me that when 2 or more systemic symptoms are causing chaos in the body, there is a chance that something rare or genetic could be the cause.  I never forgot him saying that to me and I remember leaving there finally feeling validated over my concerns for Mabel.

And when I called the office last week and he got on the phone with me, just like he used to, I heard in his voice the hope for an opportunity to try and figure this out for me. 

"Is it possible?" I asked. "is NCL possible?"

He replied confidently that although he doesn't think so, nothing is impossible in genetics.  Nothing is impossible in science.  He said that once before, too, when my baby had symptoms of NCL but on paper it was unlikely for a child at her age to present the way that she did; much differently than most children affected.  But he told me it was absolutely not impossible and tested her blood right away.  In a few short months, we had an answer to the question that had literally plagued me for two years-all because he knew nothing was impossible.  And he took a chance.

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Before our wedding in October I was walking 4-5 miles a day, even with a painful (but closed) foot.  Now, I can hardly walk or workout at all because of the intense pain in my back and the weakness and overall fatigue in my body.  My vision is distracting and frustrating.  I'm sleeping endlessly and want to be because the pain is just so overwhelming. 

For those of you who know my family, you may know that my mom started to not feel well (very much like this) several years ago.  She still deals with pain and other symptoms that have an unknown origin, though she was diagnosed with Fibromyalgia at some point in her journey.  I suppose what worries me is that she was still many years older than I am when a lot of her symptoms presented themselves.  So for now, I am determined to see this through. 

We may find nothing or, we may.  But either way, I am in pain and I cannot stop until I find someone who will help me figure out why. 

I am alive and want to be!  It is an honor and a privilege that is not lost on me.  I have never taken my health or my life for granted and so now, I will fight hard to help myself through this.  Though, I am really tired already.  Having no answers is draining in every way.

But I cannot stop until I know what is causing the pain and how to make it stop, somehow. 

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