Two of them, in fact. I first began the journey to find out what exactly was wrong with my health in 1999–yes, 21 years ago. I think I must have seen something like a record number of doctors in those years, as I pursued an accurate diagnosis.
It took 8 neurologists and at least as many general practitioners to finally find one who was willing to dig hard enough to find the right answers.
Along the way, I’ve been diagnosed with multiple sclerosis by 7 neurologists, all of whom wanted me on drugs that cost $100,000 a year. Most of those drugs also carried the risk of death and the doctors acted like I was crazy and unstable when I declined. It took so much courage to stand my ground. Two of those neurologists even refused to see me anymore as a patient after I said no to the drugs. (No matter how brave you think you are, you still can’t help but question your own hubris after two doctors fire you as a patient.)
Over the years, I’ve also been diagnosed with everything from “just depression “ and “try losing some weight” to fibromyalgia and even stuff that was very easily ruled out like Wilson’s syndrome.
Instead, what I actually, really have is not one but two forms of adult-onset leukodystrophy: Charcot-Marie-Tooth disease and Krabbe’s leukodystrophy. Yes, somehow I really have both, which is rather shocking to me at the end of this decades-long search.
Both diseases perfectly describe my symptoms (keeping in mind that I have the adult-onset version of Krabbe’s, rather than the juvenile form.) I conclusively no longer need to search for answers.
I thought my reaction at getting a diagnosis would just be “oh,” since it’s still progressive and incurable either way, but it turns out I’m not so easily nonplussed after all. I’m actually still struggling somewhat to wrap my head around this—especially because I actually have two diseases that are each pretty uncommon in themselves. I have no idea about how common it is to have two but it doesn’t seem very common at all.
And the weirdest thing of all is that they both really came down to a genetic roll of the dice. They’re both recessive diseases, which meant there was only a 25 percent chance my parents would conceive a child with either one. (Somehow, my sister got neither, thanks to the weirdness of genetic probabilities.)
On the one hand, I could feel doomed. I’m the only one anywhere in my family lineage to have either of these diseases. I just got a particularly unfortunate roll of the genetic dice.
But on the other hand, I don’t really feel doomed. Yes, the future is unknown and no one can predict how either of these diseases will progress. Either one of them alone could leave me blind or unable to walk or care for myself. Both of them combined could, in theory, ensure those catastrophic outcomes. But at the same time, they may not. I choose to live with bravery rather than fear.
All I can think about is how damn LUCKY I am that I didn’t have one of the juvenile-onset forms of either disease (particularly Krabbe’s disease.) From what I’ve read so far, the juvenile form accounts for 90% of cases and usually results in death by age two. Not only do I think that would have been unbearable for my parents, but I think about all the life I would have missed out on so far.
I’ve been so beyond lucky to have the great love of my life, and I found him at an early age. Then, on top of that, I’ve had the amazing, enriching experience of raising three really great kids who truly seem like they will make the world a better place.
We’ve raised them with very strong values to care about the rest of humanity. My youngest is kinda cheap (a joke but not really), but I fully believe all our kids will follow in our footsteps of being generous and kind. My youngest has a lot of career ambitions to help people and the potential to really make it happen.
I guess I could look at things like I’m doomed. I’ll lose my husband at an earlier age than average and I may lose the ability to take care of myself. But the other way I can look at it is that my very existence is a miracle. I believe in miracles very strongly and know I’ve received some already.
I feel like I have already done so much with my life, both good and bad. I have a lot to show for my time here and I’m making more of a positive impact as I get older.
I’m actually kind of excited to see what I’ll do next, even despite these challenges (or maybe even because of them.) I still feel like I have at least one great story to tell; maybe more.
But whether or not it ever becomes part of my official story, I am living proof that you should never give up seeking answers if you get diagnosed with something that just doesn’t seem right.
I have many medications I have to completely avoid as a result of the Charcot-Marie-Tooth, from common drugs like Cipro and Flagyl to drugs for breast cancer, in particular. How ironic that so many doctors pushed hard for me to take Ocrevus for my MS, which is a drug that itself increases your risk of developing breast cancer: had I taken that drug, gotten breast cancer, and then taken the usual medicines for that, I might have gotten dramatically worse and had no idea why.
Seems like I had to fight very hard for the right answers but doing so just might have saved my life.