Okay, I wrote a piece for the BBC today but it isn’t perfect so I am writing it again tomorrow and I started a piece on how to deal with limits for tomorrow. Well that would have been for tonight but there were several hours of interruptions including an attempt to understand genetics (you have to draw all this graphs). It turns out that my mother and I am a carrier of defective Chromosome 5 at a minimum.
Of my mother’s line, out of 14 people; five people died of a very narrow band of motor neuron disease; one had a motor Neuron disease but died of an accident, I have a MND, at least three people are hereditary carriers of at least one motor neuron disease and wait for it, my grandfather died of multiple system atrophy (all in the 14 people of my mother's father's family). I found this out yesterday.
Seems kind of odd for a 1 or 2 in 100,000 disease to show up in both my mother’s father AND her daughter? Anyway, I have been telling the doctors “Nope, no history of anything in my family” because that was what I knew until yesterday. Needless to say, to find out we have such a tight cluster of rare conditions, all which happen to be interconnected, sort of set me back. Since everyone has been sort of “Wow, this is so unbelievable for you to get this rare disease.” Well, until my grandfather’s brother heard I had Multiple System Atrophy last week; he lost half of his children to motor neuron disease called Spinal Muscular Atrophy. Then we started playing connect the dots and I find that hey, I have a far greater chance of getting these couple motor neuro degenerative diseases than breast cancer or any other type of cancer combined.
I mean I am not sure if I should be upset at the year of doctor doubts and confusion and fighting and the “oh crap it is autonomic failure” moment or whether I would rather have lived my life knowing that I had a pretty decent chance of a couple different MND’s. Too later either way, here we are, I am passing on the info to my doctor, tracing the specialist who diagnosed my grandfather (hey, grandfather and granddaughter get same rare disease….I smell a conference paper!) and I see maybe a geneticist and a muscle biopsy in my future. Gosh I hope those don’t hurt, because using a needle to take a chunk of muscle actually sounds pretty painless to me, NOT!
My head is in a pretty hefty spin, because, hey, why didn’t someone mention something before this weekend, but also, what do I do now? I think this is a case of hurry up and give the info and then wait….and wait…and wait.
One of the last things my grandfather said to me is that I reminded him of his sister. Now it may turn out that we all have or will die of the same disease. Actually, last few days I’d been having the terrors, the whole, “I don’t want to die this way” feelings that sweep over you. And this kind of calms me out.
My grandfather was a very special and important person to me; a person who accepted me as I was; yeah a little odd but that was me. He accepted the things I was passionate about I accepted things he was passionate about. I remember how he couldn’t figure out how anyone could be afraid of a few wood bugs as I would turn over the cut wood in the wood pile with a VERY outstretched arm. “But they don’t bite, they’re just wood bugs!” he would say in this sort of soft wonderment than such a poor harmless bug could cause such LOUD verbal distress from someone (like me).
“But they’re BUGS!!!” I would say before running away and coming back when he told me there were all gone. “Back into the woodpile I bet” I’d grumble with my bottom lip out.
“They are WOOD bugs.” Then as a treat I’d get to drive his mini hauling tractor to haul the wood up to the house.
I guess what I am saying is knowing that my Grandfather lived this, felt this, that when I last saw him, talked to him and he talked to me, that it was already a part of him, it makes me feel less alone. Something odd about that I think that I feel comforted knowing that he did not lose himself, that it was bearable (admittedly he probably wasn’t trying to do boxing and badminton and stuff like that). And I think he had morphine.
Still, it makes it more bearable for me.
59 minutes ago