My name is Dave, I am 37 and have been recently diagnosed with a number of rare diseases. Firstly, a rare form of Kidney disease called:

Membranous Glomerulonephritis- a rare disease that effects 1/200,000 people. It’s where my immune system is (in easy-speak) rejecting my kidneys, causing them to hemorrhage protein. It comes under the category of Chronic kidney Disease (CKD) and has a 33% chance of ending in end-stage ckd renal failure.

It’s treatments are few but mainly effective, so prognosis is by enlarge, quite good. Although I have ended up on a 6 month stint of immunosuppressant treatment in the form of chemotherapy drugs last year (2018) I have been reassured that so far, I appear to be in remission with the disease. Which I take as a massive win and step forward.

Secondly, something neurological. Which has taken a lot to diagnose; originally as Multifocal Motor Neuropathy (MMN) another rare disease that effects 1/200,000. It’s a chameleon disease of Motor Neurons Disease that has no cure but does however have treatment in order to help symptoms and slow down progression: immunoglobulin!

Now, apologies to be so boring this far, I promise to make things more entertaining later on, but you may all need this back story to understand me.

To my knowledge, I am the only known person to have both of these diseases, which makes me feel unique if nothing else. It’s important to remember that for just about a year now, I have been receiving sporadic treatment for the MMN (immunoglobulin [IvIg]) which has never seemed to work, my symptoms started in July 2017 with neuropathy being the main cause of concern. Tests revealed the kidneys were broken and as they were rather important, focus was thrust heavily on them (rightfully so, kudos to my gp and the specialist at Nottingham city hospital)

Issues!

My main focus was largely renal, especially when it became clear that they may have been causing me to negate the ivig infusions – causing no effect, basically my kidneys were literally pissing the immunoglobulin out. So, Treatment was halted and then held off whilst I was on chemo and then restarted in April 2019 once renal stability was confirmed.

Alas, however, the only thing that secures the mmn diagnosis was that the ivig infusions were “helping” and that if they didn’t, the diagnosis would likely change, which my neurologist had warned. He is, however, sadly; a man of slowness and has a much less time sensitive attitude to the rest of the world it seems.

I’ll discuss physio and other things later, but for now, just understand that in the last 6 months (2019) the physio team, renal and gp have been monitoring me between my neurologist visits and as symptoms develop a Motor Neurons Disease (mnd) diagnosis has arrived.

Moving on.

One of the key indicators of mnd for me has been the symptoms. I’m grateful for the symptoms as they prompted investigations which discovered the kidney disease. Although, my neurologist visits have been few and far between, learning that I am now under the East Midlands “expert” and only mnd clinic has been somewhat of a giveaway – if not frustrating, as I’d prefer consultants to be straightforward and upfront about things with me.

Now, don’t get me wrong. I’m not bitter, nor am I worried. I am just now in a positiont that means I have to take each day as it comes.

MND comes in various forms and can best understood like this:

“With MND, messages from the motor neurones gradually stop reaching the muscles. This leads the muscles to weaken, stiffen and waste. MND can affect how you walk, talk, eat, drink and breathe. Some people also experience changes to their thinking and behaviour. However, MND affects everyone differently. Not all symptoms will affect everyone, or in the same order. Symptoms also progress at varying speeds, which makes the course of the disease difficult to predict. MND is life-shortening and there is no cure. Although the disease will progress, symptoms can be managed to help achieve the best possible quality of life.”
Courtesy of the mnd association (mnda) website.

The variant we think I have is PMA (progressive muscular atrophy)

“PMA is a rare form of MND that affects the nerves, which run from the spinal cord and
control your muscles, known as lower motor neurones. PMA results in muscles gradually
losing their mass, known as atrophy or wasting. This causes the muscles to become
weak, and a twitching sensation that ripples under the skin (known as fasciculation).
It usually starts in the arms or legs, and may only affect one part of the body for a number of years before spreading to other areas.
Like other forms of MND, it typically affects people aged over 50 years but younger people can also be diagnosed with PMA. It is a little more common in men.”
Mnda website