Let me be clear: I do have 6 months to live. I have 2 years to live. I could even have 10 to 15 years to live. However I don’t want to live till the latter, because by that stage, I will not be in a good state. Physically or mentally. Still, I don’t think I’m being a Drama Queen by referring to my illness as being Terminal, because it is one that will end my life. If I don’t end it prior.
“A terminal illness is an illness or condition which cannot be cured and is likely to lead to someone’s death. It is sometimes called a life-limiting illness“
– MarieCurie.org.uk
Sure, as some friends and non-friends have stated, “but anyone could be hit my a bus tomorrow, even you!”. That is true, but really, what are the chances? I literally do not know anyone that has ever been hit by a bus. Even knocked slightly by a bus. And from a spiritual perspective, I believe this is even more unlikely for me. I believe I’m going through this for a big, fat, karma kicking reason or reasons.
My disease is caused by a rare, autosomal dominant (50% chance of passing to your kid) genetic mutation. It primarily presents as an adult-onset condition that can affect muscle, bone and brain, or any combination of those three. But the team have recently discovered it also can occur in children. There are quite a few differing mutations of the one specific gene. I have the most common which is a good enough thing, as most of the tests are done to incorporate this one. This is a very busy little gene, one responsible for many different functions throughout the body.
One of the names of the diseases it can cause is Multisystem Proteinopathy, or MSP1. It used to be called IBMPFD (Inclusion Body Myopathy with Pagets Disease and Frontotemporal Dementia) but since they found it can cause other diseases too, such as Parkinson’s and Charcot-Marie-Tooth type 2, I think someone decided somewhere along the line to call it MSP1. The nomenclaure gets pretty messy and confusing.
It is also responsible for a very, very small number of ALS/Motor Neuron Disease cases. Most cases of ALS, around 90%, are sporadic. Meaning they seemingly pop up in a family member for no apparent reason. The rest, around 10% are familial, or hereditary. Of this 10%, my mutated gene is responsible for approximately 2% of cases. So that’s 0.02% of all cases of ALS.
I was diagnosed with Motor Neuron Disease (ALS) in October 2024. No one else in my family has received this diagnosis; the criteria are very specific.
My father passed from MSP1 at age 63. I helped my incredible mother care for him until we turned his oxygen tank off after a nasty bout of pneumonia, and let him slip away. I like to think his spirit was already mostly free long before that point in time. Let’s just say it certainly wasn’t in his body, or his mind. His two brothers also passed away from the illness at similar ages, and their mother in her mid 50s. 3 of my cousins also have it, and it appears to be quite a bit more advanced, or expedited in our generation compared with our fathers at the same age. I’m the youngest by 5 years, still mobile, still working 0.8FTE as of the time of writing.
Monika is a moniker 🙂 As in an alias. I’m not ready to associate my real name because I’m still employed, and I have been discriminated against because of my illness (funnily enough, by a big disability service provider organisation! But that is another blog entry) So I’m very careful what I disclose to employers now, and I’m not even going to start on insurance concerns.
I thankyou again for being here, and apologise that a lot of this site is under-construction.. meaning disjointed blocks and pages and seemingly unfinished posts! Please bear with me as I get my blogging bearings 🙂
Someone’s lounge
