a note: as you read this, the journey may seem very strategic, point a to point b, very effortlessly. it may seem like it just flows. looking back, that is how this all pretty much went. God knew I needed this journey to go with as little stress as possible, even in a pandemic, and allowed it to just be. I'm forever grateful for that.
It’s taken me almost a year to be able to write this.
For months, when I sat down to even put any thoughts to paper, it came out like this:
Fuckity fuck fuck fuck.
Sorry mom. (:
But thankfully, time does heal some wounds. And so does knowledge. And processing. And letting go. So, yes, I’m in a better place to be able to write about what has happened over the past year now. Still stings though.
Before I dive in, I want to just chat about the 8 years prior to this year. You know, the 8 years I was wrongfully diagnosed with Multiple Sclerosis.
The diagnostic tools for MS are actually quite limited - diagnosis is based off of MRI images, scale of symptoms (EDS), and sometimes, a spinal tap.
The difficult part of this is that the signals of a diagnosis of MS (lesions on the brain/neck/spine seen on an MRI, certain symptoms that align with the EDS scale, and bands present on a spinal tap) could all perhaps signify a different disease other than MS. Misdiagnosis in the MS world is actually quite prominent, not largely, but seen. However, MS is the “easy” answer. It’s also the most probable answer. So it’s usually what doctors go to first.
For me, I was immediately diagnosed with MS after a MRI showed lesions (lesions are demyelination of the myelin sheath, which is the protective covering of your nerves, within your central nervous system) on my brain, neck and spine. This was March 21 2012. It was a quick diagnosis because, in the words of the ER neurologist, it was so “obvious”.
march 21 2012
But then I got worse. Not like a little worse but a lot worse. Additional neurologists looked at my case and said, “well, we still think it’s MS but perhaps it’s just a more progressive, atypical case. Perhaps there’s even another factor we aren’t seeing.” But the MS diagnosis never left. It stuck like glue.
For the first 3-4 years, I searched for answers. Why was my case atypical? Why did I not respond to any medication or steroids? Why did my MRI’s not show additional developments? Why do I not show signs of inflammation? I went to Cleveland Clinic, Mayo Clinic, various doctors in Pittsburgh, all with hope that they’d hold the key. And they tried. They’d examine me, look over my case, and say with great assertion “we think it's THIS!”. And then they’d do follow up tests, it would turn out to not be their big idea, their ego would get in the way, and they’d either dismiss me as a patient, send me back to pittsburgh for follow up, or worse, gaslight me in to thinking it was all in my head (looking at you Mayo Clinic you son of a bitch).
Eventually I had to give up. Not on my health but on my journey to “find the answer”. At this point I had been tested for numerous other potentials, all coming back negative. The only one that sort of stuck was Parkinson’s disease; we dont know why, we dont know how, but even to this day I am still on Parkinson’s drugs that truly do make me more functional.
So, I give up. What this mostly means is I stopped visiting additional hospitals, as well as I stopped all disease drug management. This was a battle as every MS specialist wants their client on drugs and I had to fight to say no. I pursued IVIG and plasmapheresis still but these were for reasons outside of MS. I saw my MS specialist every three months, went for MRI's, and monthly bloodwork. I basically just let the diagnosis be what it was and focus on symptom management.
There are three points here I’d like to make, though I touched on them briefly.
What exactly led neurologists to distrust the MS diagnosis?
1. My MRI’s. They remained “stable”. But my progression didnt. This led some to believe that I had progressed to SPMS. This led other’s to believe that perhaps this demyelination was not MS related. Even further, it was possibly believed that the damage being done couldnt be seen with a MRI. (A doctor explained a MRI like this and I thought it was so insightful - a MRI shows the central nervous systeml like a space ship shows earth. The space ship can see "damage", such as a hurricane brewing, just like a MRI can show lesion spots or demylination. But a space ship picture cant really show the damage on the earth's ground, such as flooding or structural damage. And it's believed that perhaps MRI's cant fully either.)
2. MS disease management drugs. I did not respond to any drugs. T cell or B cell facing, it didnt matter. They did nothing.
3, Inflammation. MS is in most cases an autoimmune disease, causing inflammation. My body never showed instances of inflammation, at least not to the level of what is the norm for a ms patient.
This is putting it minimally while summarizing. But I share because as crazy as it is to receive a different diagnosis, we kind of knew this was a possibility all along. The only frustrating thing is it took 8 years.
So all this brings us to November 21 2019. My birthday in fact. I woke up that day not feeling fabulous, and by afternoon, I looked to kris, who was working from home that day, and told him I had to lie down, I was just wrecked.
When I woke up my mobility and my speech were limited. Over the course of the next week they both completely disappeared.
This had happened before, this loss of mobility and speech (called dysarthria). However, this felt different. And the speech - well I always had something, at least a little. This time I was completely nonverbal.
We met with my MS specialist - we went through my case, my newest MRI, my symptoms. I left that day feeling how I always felt leaving that office - underwhelmed, like I had just done a turnaround and nothing else.
We had decided to do a round of plasmapheresis; when Kris called to schedule, the plasma nurse actually informed us that my case was being presented to a panel of doctors to discuss what’s up.
And apparently that’s what happened. My MS doctor presented my case to a panel of doctors from all walks of specialities. At the end it was suggested that I get genetic testing; specifically, genetic ataxia testing.
because my veins are so wrecked, I had to get a cathater through my neck (that went to an arteria near my heart) for the plasmpaheresis treatments. it was so sexy.
also, I'd like to just note that all this happened between thanksgiving and christmas. it truly was a holiday time to remember. I thankfully got the pain in the neck removed a few days for Christmas and was able to get my hair washed. I know it seems so simple but damn, that was probably the best hair washing in years lol.
Personally, I think that everyone should have access to their genetic make-up. It’s who you are, it’s how you were made. And for the most part it cant be changed - it is what it is. But for some reason, genetic testing is very touchy. Also very hard to get access to.
Even with this recommendation and referral, it took an additional 6 weeks to get an appointment. I had to go through genetic counseling. And then I was told that it could be upwards to 12 weeks to get approval for genetic testing. Approval, not the actual test. Unless, (and this is really the game of all healthcare right here), we paid out of pocket. Those son’s of bitches, right up there with Mayo Clinic.
So we went the out of pocket option. Not because we have money to just throw at medical tests (lol that’s cute) but because I was SO SICK and this had the potential of having answers, and more importantly, symptom help.
I’m in a wheelchair unable to speak at this point. We were desperate.
I spit a lot in a tube and out the door to the lab it went, along with a lot of money.
At the same time as this, I had an advocacy video shoot with a company I was working with; the topic was patients with progressive MS. I asked my doctors - can I do this? Not physically, all the right adaptions were being made for me to be able to do this. But in the right, with knowing this test was out there.
I was reassured, that the test, even if it did come back with genetic ataxia, it would just be an additional diagnosis. Or possibly the test would just be confirming something in the MS family that is atypical. Either way, the MS diagnosis would still be stuck to me.
Life is funny.
Timing wise it’s important to note that we’re coming up on Covid19. This impacts this story because, well, every diagnostic research lab in the country switched most of their efforts to Covid19, delaying all other tests.
I could get really snarky here on Covid19 measures and how people need to be taking the right precautions to rid the disease here in the USA because it’s affecting SO MANY SICK PEOPLE but I’ll spare you. Just stay home and wear a mask. Please.
On a Friday a while later I get a call. It’s from the genetic doctor. “Eliz, we got your tests back. It’s remarkable. Ok, we didnt find anything that had to do with genetic ataxia, or really anything to do with MS. But rather we found a marker of a mutation that has never been reported before. Can you believe that? You have a genetic mutation that has never been clinically reported! It is in this special family of GFAP protein mutations, which is indicative of a disease called Alexander’s disease. But it’s so very rare, and then you having your own mutation...anyway, we need to do additional testing. We dont know anything for sure. Stay tight, dont google/worry too much. And dont get covid. Ok talk soon”.
Ok cool. Will just keeping living.
A while goes by. Another call “Hi Eliz. Ok, we got the further tests back. We can confirm you have a GFAP mutation, indicative of the disease Alexander’s Disease. It aligns with your symptoms as well. This is very, very rare. Like, research paper rare. I’m very sorry. I’ve been in contact with a team of Alexander’s Disease research doctors, fortunately they are located in Philly! They’ll be in touch and they’ll hopefully be able to help you with any answers. Again, I’m very sorry. Dont get covid. Bye”.
I stared at Kris, almost wanting to laugh. You’ve got to be kidding right? Where's the prank?
Alexander’s disease is a leukodystrophy disease. It is an extremely rare, progressive, neurological disease. It is caused by a genetic mutation of a GFAP protein; it affects the myelin sheath of the central nervous system (sound familiar?). There are no drugs or treatments available and relief is usually symptomatic. And, it’s fatal. I know that’s not a cute thing to say. Also, I know that every one dies. (Someone actually said that to me when I shared with them the burden of knowing your disease is fatal - “well Eliz, every one dies”.) But I will admit it is hard to stand up to the monster ruining your body when you know it will eventually “win” in the end.
When they say Alexander’s Disease is rare, they mean about 500 some cases since it’s discovery in the 1970’s. Worldwide. Like a hell of a rare disease.
If you'd like to read more on Alexander's Disease, I suggest this website.
So what does this mean for MS? Well, it means we're 99% sure that's not the correct diagnosis. I've asked my speciliasts now, that if they saw my case and evaluated me back then, would they have diagnosed me with MS? In true doctor style, they were not able to give a complete yes or no because, well, they have the insight to know about this genetic mutation. A genetic mutation that completely changes the story. But, they did say that MS was the most obvious diagnosis...to begin with. It just shouldnt have taken 8 years to realize that MS didnt make sense after a while.
Ok but what does this genetic mutation mean? Again, little is known but here's what has been explained to me. I was born with this genetic mutation. Alexander's Disease has three presentations - birth, juvinille, and adult. At some point, in my "adult" years, something triggered. They do not know the triggering points to this GFAP genetic mutation - like zero info on it. All they know is at some point, something triggers this mutation. The GFAP mutation then creates an abnormal amount of Rosenthal fibers, which is a type of protein in the bodies' makeup. On top of the abnormal amounts of Rosenthal fibers, there is demylination to the myelin sheath. How these are connected, they arent 100% sure. But both happen.
The demyelination of the myelin sheath is what causes the symptoms I am experiencing. This is why many of my symptoms align with MS because, they are both from damages of the central nervous system, neurological disabilities.
This was a lot to take in. First there is the level that for 8 years I was given the wrong advice, the wrong drugs, the wrong direction. And now, I know the truth and honestly I kind of wish I didnt. And what do I even really know? It's like I know everything and nothing at the same time.
We’re in quarantine time, so my first introduction to the Alexander’s Team is a telemedicine appointment. We go over my 8 years of health journey, my MRI’s, the genetic testing, the thoughts, the additional questions. It was all very routine. But one thing that stood out was that the doctors mentioned, just in a passing comment, something about me living to the age of 50. I almost cried. Since learning this news the word “fatal” had me questioning when. How long? To be passively told that they planned on seeing me in 15 years still, gave me hope.
Because Alexander’s Disease is so rare, and because the genetic mutation I have has never clinically been reported, there’s a lot of gray area still. I’ve gone through as much testing the last 5 months as the prior 8 years combined. It’s crazy. On top of which, this team finds me “intriguing”. It’s a blessing and a curse - a blessing in that I know I wont get lost on their deck to paperwork. A curse in that I sort of feel like a lab rat.
But they’ve all been kind and gentle. I’ve had additional telemedicine appointments and a few in person appointment’s. There is a whole team of top doctor's who have discussed me as a patient; they are highly invested. For the first time in these 8 plus years, I feel I’m being taken seriously.
Since there are no treatments available, the main goal is to help the patient with symptom management. This has been difficult in these times because I dont have access to a lot of what I need. However, I am happy to report that while I’m still in a wheelchair, I have been able to cycle on a recumbent bike (both stationary and road) like a badass this year. My speech has also improved some and I am able to speak, dysfunctionally, and yet, be understood (sometimes lol)!
Where we go from here is a lot of the same expressed above - tests, discussions, lab ratting. We know the monster that’s doing this but we cant really fight him. But we can best prep my body to take on the heat.
And even though the diagnosis has changed, the symptoms are the same. I know how to adapt life to them. Of course, there’s knowledge now that these symptoms are most likely here to stay. And that the symptoms will only progress. It’s a downhill ride so to speak.
I’m going to be very straight forward here for a moment so there’s no confusion. This change of diagnosis is not a good thing. As terrible as MS is, there are bouts of hope in the disease. Of remission. Of drugs helping. Of research. Not belittling the course of the MS disease - it is terrible. Awful. Ugly.
But Alexander’s Disease, well, let’s just say it just got worse. There is no real hope, there are no drugs. There is little research. Especially now, as all research has been stalled due to budget cuts and restraints. (Stay home, wear your mask).
This outcome is honestly like the rarest and, to be blunt, in some ways, the worst case scenario of having the genetic testing done. That’s the real of it. Sorry if that makes you uncomfortable but that’s the truth.
The positive though is I have been able to donate my "case" to varoius research facilities in the hopes of answers for future generations. My genetics, my blood, my cerebrospinal fluid, has all been gathered and is on ice as they say. I know I dont have many answers now - but I hope that in my particpation, some might in the future.
If I can be so bold and share just this one last thought - life goes on. This all happened during a pandemic. While my world was falling to pieces, the whole world was falling to pieces. The world continued moving on and I had to continue moving with it. I couldnt go visit friends or be comforted by my mom’s hug when I found out this news. No meal train or extra help was offered because honestly, we were all struggling. I had to stay inside just like all of you. And that gave me power - because I literally had to go through it to get to the other side.
We all get hit by hard things in life. And life continues to keep moving. We have to find the balance of honoring our feelings and what we’re enduring while also respecting the world’s going on’s. By taking the time to find this balance, I found my own hope. I found peace. I even found joy and laughter and happiness.
And that will only continue. Because life is still good.
Id like to just give a little love shoutout here to my babes, Kris. First, I'm a very difficult patient. I like to do everything myself. And Im very stubborn in this. It can be very frustrating to be a partner to someone like this. (: Second, he was working from home in our tiny 900 square foot apartment with me and Sputnik bothering him all day because that's what we do. Third, he had to not only watch his love go through the physical changes of this past year, but the emotional and mental ones too. Fourth, he himself had to endure the changes and news. I could go on and on with all that he has had to go through. And yet he handled it like a boss. I'm so thankful I have a life partner who literally is there during all the tears and the cheers. Love you babe.
