Rare Diseases: it seems as though everyone has one. In recent years, there has been a surge in discovery of rare diseases. So many in fact, it’s a “rare” day that we don’t read a heartwarming story about a brave soul battling a mutant gene terrorizing their body. There’s always something out there waiting to get us, which makes me wonder how “rare” these diseases actually are. Something to contemplate.
A rare disease called Adrenomyeloneuropathy (AMN) took my husband. AMN is the adult onset of Adrenoleukodystrophy (ALD) and it affects about 14,000 people in the United States, (mostly males) because it is linked to the X-gene, making women carriers. Unfortunately, Mark’s mother carried the gene and passed it to him. Thankfully, it did not manifest itself in Mark’s youth, or he wouldn’t have made it to 44…he would have died long before that. Had ALD developed, Mark would have missed his first school dance, his first Atari game and his first kiss. While he hated the hand his chromosomes dealt him, he was very grateful for his “normal” childhood, and by normal, I mean mischievous.
Mark struggled to do many things: walk, shave and go more than two hours without a bathroom break (haha!) But he had the gift of life, and with a rare disease, you take all the gifts you get. He was grateful for strong arms that helped him avoid his big brother’s attempts to throw him into the pool; he was grateful he snagged a dirtbike that wasn’t his; he was grateful he stupidly drove a brand new motorcycle into a wall; he was grateful he lost his “innocence” in his less-than-safe Camaro; he was grateful for his lifelong friends; and he was grateful for the deep love we had together and for the family we made.
ALD is generally a death sentence but AMN seems a bit more forgiving, unless you get the “cerebral” version, which Mark developed. Once the lesions began forming in 2017, it was quick…really quick. In fact, it took barely 18 months to turn my husband from the determined, strong man he was to the extra quiet, sometimes expressionless man he became.
Knowing your time is limited can be a curse, not a blessing.
Many people have cautiously reminded me that I “knew” Mark was going to experience an early death. I interpreted this to mean I should be better prepared for my grief or less emotional because it was expected. We ALL die. Just because I knew Mark would (likely) die sooner than me doesn’t lesson the blow or make it easier to accept.
We “know” we lose loved ones, but does that make it easier to accept when it occurs? Of course not! When you touch your loved one’s cold hands, or kiss their lifeless lips, is it easier to handle because you had foresight? No. Knowing – or suspecting – isn’t a blessing…believe me. So many people said to me: “You’re so lucky. You know time is limited, so you can maximize the time you have together.”
You try managing the mountain of anticipatory grief and guilt that befalls you, “knowing” death is approaching: you “know” you won’t be able to visit all the places they’d like to see; you “know” you can’t afford that expensive restaurant they want to try; you “know” your hugs are limited, so you flood them with more “I Love Yous” than you ever thought possible. Knowing your time is limited can be a curse, not a blessing.
I will never see Mark again. I will never kiss Mark again. I will never talk with Mark again. I will never hear Mark laugh again. Mark will never say “It will be okay, honey” again. I will never feel Mark’s arms around me again. Writing this makes it nearly impossible to breathe, never mind process. I have videos and pictures to flood my memory, but those are also constant reminders he’s gone. Just because “I knew,” doesn’t make it easier.
That said, when Mark and I first got together, I did my “disease homework.” I also talked to Mark’s neurologist who assured me he didn’t have brain complications. Granted, he’s a physician, and while physicians can’t predict the future, he seemed confident we were looking at physical decline, not mental.
And mental decline is way worse, people. Way, way, way worse.
Physically, Mark went from one cane to two, and used his wheelchair more often as time went on, but his disease was way harder on his nerves and brain. Unfortunately, Mark also had a host of urinary issues. The signal receptors were either blocked or just dead, so he often did not feel “the urge” to go (later in his disease) and he developed many UTIs, which did irreparable damage to his Bladder and Kidneys. He had UroSepsis at least seven times in his final 16 months of life and who knows what kind of damage that did to his other internal organs.
We really do take advantage of all the wonderful things our brains do for us.
Sepsis accelerated AMN progression significantly – which lead to all the lesions in his brain. Once they huddled into the “Occupy Mark” game play, it was very rapid. Within weeks of his first Sepsis incident, he had vision neglect in both eyes. I remember once that he didn’t see me in the room, his neglect was so bad. We decided to relinquish his new truck (this one hurt him deeply as he worked so hard to get it!) and he withdrew from classes at the university he enrolled in, because he could no longer read. I also had to help him put on his clothes and shoes, because too many times they’d be on wrong…especially his underwear. But he always smiled through it. (DISCLAIMER: I love the below picture and remember this moment with so much fondness.)
Cognition went next: he forgot how to use his phone so he wasn’t able to text or call people without help. Siri was helpful sometimes, but once he started texting my parents that he loved them, we chose a simple phone. That became problematic quickly because he struggled to open the phone and see the bigger buttons. He also found it difficult to follow basic directions. I tried to make a peanut butter and jelly sandwich with him once. Let’s just say it took more than ten minutes, the poor guy. We really do take advantage of all the wonderful things our brains do for us.
With all this, the speech and swallowing also declined. The words were often jumbled and he couldn’t come up with sentences, so he eventually just stopped engaging. He always got flustered when he couldn’t find words, and I did my best to help him fill the gaps. We also cut his food smaller because he wasn’t chewing effectively and his throat muscles were failing. He eventually lost the ability to find the food on the plate, so we’d feed him. Admittedly, we had a little fun with this one…LOL. But we had to have some fun, because this disease is a monster.
My husband was disappearing and there was nothing I could do about it.
Memory was the last to go…and this was the worst. I remember asking him during one of his hospitalizations: “Where’s your wife, baby?” and he replied: “She’s around here somewhere!” I said, “I’m not your wife?” and he replied, “No way…she’s cleaning my room, I think.” Let that sink in: you’re holding your 44-year-old husband’s face in your hands and he not only has no idea who you are, but he thinks you clean hospital rooms (I have…LOL) I cried for hours after this visit. My husband was disappearing on me by the day, and there was nothing I could do about it.
Eventually, Mark lost the ability to walk, and was wheelchair, couch, or bed-bound. We did our very best to get him out into the world: Alex or myself would take him for walks daily and I’d cook him anything he wanted, because “Anything my wife cooks,” was always his favorite meal (according to any nurse I ever spoke to.) We had movie nights with the kids (he hated Disney movies, LOL) and we’d occasionally have a “date night” that our sons would accompany us to because Mark needed two people to move him in and out of the SUV.
The last four months were so hard on all of us, but especially Mark. He was in the hospital for something like 40 days between Feb. 3-April 10. That’s A LOT of time to be away from home. I visited him every day of course, usually most of the day, because he didn’t get many visitors other than us (I always checked the visitor logs.) Mark didn’t see his family much, and not because they lived a distance away, (they don’t) but because they chose to be absent in the last year of his life.
This is my opinion, anyway. I learned early on that not only would I manage his illness alone, I would also be expected to reach out to make plans with them, too…despite Mark’s limitations. It was just too much for me, so I let it go. If they wanted to be around Mark, they could reach out, but they didn’t. I don’t know if his illness was truly too difficult to grasp, but I know I heard that excuse at least once. Everyone seemed to be able to attend our wedding though, because that was a happy time.
Hospital admissions generated the obligatory visits, but I think we had a total (including hospitalizations) of eight visits from June 2018 until Mark’s death. No birthday visits, no holiday visits, no phone calls either. Zippo. He deserved better that that and I won’t apologize for saying so. I didn’t care for that treatment, and made it known. Mark didn’t notice very many things, but he noticed their absence, and that bothered me. I hope one day they can come to terms with it.
Anyway, that’s what our last year looked like. AMN truly was the grim reaper for our family. It took everything from Mark: his ability to work with his hands, his memory, his ability to walk, his ability to be intimate, (no fun for a newlywed couple!) his ability to converse, to eat, to think, to live. It took everything from him, and subsequently me, too.
It’s almost as though they lay dormant, lurking in our DNA, just waiting for the right moment to strike.
But he was still grateful, and so am I. I asked him if he thought he lived a full life (because at age 44 I definitely am not fulfilled!) and he said: “I do! I was able to be young and do stupid st—, had good friends, and I got to marry you.” He told me so many times that was the greatest day of his life. While we only were able to spend a little less than four years together, that in no way diminishes the love we created. It flows so very deep within me, and that’s because we found love despite the monster that lived within him.
There are loads of rare diseases out there, just waiting to emerge in the bodies of their targets. It’s almost as though they lay dormant, lurking in our DNA, just waiting for the right moment to strike and bring pain to the body of their host, plus wreak havoc on the lives of everyone around them.
Did I know his disease would kill him one day….yes. Does it make it easier to handle his absence…no. I will love and grieve him for the rest of my life, no matter how few years we had together, or the foresight of knowing how few they might be.
Have an experience you’d like to share? Please send a comment below!