It stops with me!

We had a phone call recently that’s not only been niggling at me for a couple of months but it was an outcome that has haunted me for the last 10 years.

It wasn’t long before we knew we were expecting William that we found out that my health condition had been misdiagnosed.

I had gone 12 years with a misdiagnosed condition; I now had Facioscapulohumeral Muscular Dystrophy.

A genetic condition that would eat away at my muscles.


This condition gets its name from the muscles that are affected most often: those of the face (facio-), around the shoulder blades (scapulo-), and in the upper arms (humeral). For me, it was also affecting my hip, waist and legs.

The outcome varied for each patient.

The earlier in life the weakness appears, the more severe it will eventually be. It is hard to predict how arm or leg weakness will progress. Although in more than 50% of cases the legs are affected to some degree.

For me, I had weakness throughout.

I would, one day, lose the ability to walk, have use of my arms, lose my smile and possibly the ability to communicate properly.

There is also no guarantee that it would stop there. It could be worse.

Yet, we had William.

At the time it wasn’t affecting me as much as the predictions so I didn’t fully grasp the full picture. I was thinking that I could be one of the “lucky ones".
The people who don’t get affected that badly by it.

I was also thinking that they have a great role model if anything ever did happen to him. It was a 50/50 chance and it couldn’t be “that bad" for some.

The worse case scenario and it wouldn’t matter; I would love him whatever happens.

Then my health started to turn. The pain increased. The weakness progressed. The outcome didn’t look as great as I had previously thought and the specialists “predictions” were becoming more real.

I had to, in some way, shake it off. Love him for him and try not to worry.

Then we had James and all the same thought processes went through my head; whatever happens I will love him no matter what.

The years passed and they seemed ok. They didn’t show any of the smaller signs and symptoms that I showed when I was little. It must be ok.

Then William started showing symptoms for it.

So their mum and I agreed to get them tested.

At first our main focus was he was 10 and old enough for the test.

That way, with prior knowledge and understanding, we could help him have a brighter future. With the right therapy and help he wouldn’t have to go through what I am.

We had the test and thankfully he got the all clear. He didn’t show any genetic traits for the condition at all.

The relief was unbelievable. The worst thing possible in my mind didn’t happen.

Yet, there was part of me that couldn’t celebrate.

I couldn’t really be happy that he had the all clear when we still had the possibility that James may have inherited it.

I thought showing any happiness might impact James if he got the diagnosis later.

In some weird and cruel twist of fate I couldn’t be happy that my child wasn’t going to suffer just in case the other did.

James is 8. The geneticists don’t tend to do the test that young as the results are not always that clear but, we had to know.

So, just before the summer we took James to London and tried to get the test.

Ultimately, the geneticist was hesitant. It had to come down to James and his choice. Did he know what was happening? Could he really grasp what his future could be?

In the proudest of moments he answered that he understood but it didn’t matter because I still do lots and so will he, even with a diagnosis.

He had the blood test and we had to wait.

That was until a little while ago.

We had the call.

James had the all clear too!

Happy isn’t the right emotion that I’m feeling.

To be honest I'm emotional, teary and relieved.
I would have loved them no matter what. If it had come to it then we would have done everything in our power to make sure they had a better opportunity at tackling it than I did.

Having a disability, as I have shown, doesn’t make them any less and wouldn’t have taken away from their life. It didn’t for me. So it was never about them being disabled. Being disabled isn’t a bad thing and wouldn’t make them less of a person.

However, it’s the day to day struggle. The pain I am constantly in. The feeling of vulnerability that can rest deep inside you at times. These are the things I didn’t want for them.

It has taken 10 years but I can rest, stop worrying and be happy that it stops with me. It can do anything it likes to me. My future can be whatever it decides because it can’t touch my children.

Muscular Dystrophy has never defined me and if I am honest I don’t think it ever will. I am more. Disabled people are more than just their disability. I know my boys would have been the same. I am, however, happy that they wouldn’t have to have that battle put upon them.

This cruel and devastating disease will NOT touch my children. They will never have to experience any of what I do. For that, I am pleased.

So FSH, f**k you, I win this one. It stops with me!