Just saying hi!

[carlyy_82]

Hi, I'm Carly, 32 year old single mum of a 6 year old girl and 5 year old boy. My Dad and his Dad had MND. (I'm an Aussie).

I have had symptoms for about a year but crunch time is finally here. Nerve conduction studies being done tomorrow.

I'm starting to get really nervous now, as the Neuro has said my symptoms are likely MND. So tomorrow I find out.

I'm really scared.

 

[Nikki J]

Hi Carly
Hoping that it is anything else! I was just diagnosed this month. I am the 6th in my family that I know of. We are C9 do you know what your gene is?
Please keep us posted. Fingers crossed for good news!
Nikki

 

[MaxEidswick]

>Please keep us posted. Fingers crossed for good news!

ditto that!

 

[affected]

Hi Carly, so sorry to see you here!

Let us know the results, I'm an Aussie too, in NSW up near the QLD border.

I can't imagine how you are feeling in this waiting time, keep touch here, this is an amazing source of support.

 

[carlyy_82]

Hi guys! Yep it's C9, bloody terrible gone. Dad had FTD and MND, Grandpa had Bulbar.

I didn't get as much info as I'd hoped but that seems to be a trend on some of these boards!

My NCS was abnormal, mainly in L leg, consistent with major injury ( which I've never had). Brachioradialus sp? Reflex brisk +++, another one was brisk to the ankle.

So I'm booked in for an EMG on.....the 4th of bloody August! He is going away for 6 weeks in June and all of July, but said he would wait that long anyway. My best friends friend, if that makes sense is his nurse. So he said any cancellations and I'm in first. She said don't hold your breath.

I'm having CT, we have had weeks of trying to get me an MRI but I've got a you beaut Medtronic pacemaker that's MRI safe, BUT and thus is pretty funny...the leads aren't! So they heat up and they are the bits that enter your heart.

So after him trying for both myself and another of his deep brain stimulation patients he's given up. CT it is, more bloods and an EMG 4th August. I was supposed to have the CT today but chickened out. I get the report and I know if it's clear, and it know it will be it's not great news. I've rebooked for tomorrow.

He said the history is bad, particularly as it's the paternal side. No one knows except my ex, my two best friends and my (alcoholic, mentally ill) mother. It's hard keeping up appearances with this hanging over my head, I'm sure you guys relate.

He made me sit pretty much nudie and saw the fascics, which is good. Imagine if he saw nothing. I have an essential tremor which complicates but also gives hope that it could be BFS with essential tremor. My tongues pretty impressive, can't wait for a needle to be stuck in.

The worst thing is waiting, as I'm sure you all know. I have shared custody and hate being away from my babies if I'm not going to be well for long.

Thanks for replies, it means more than you know xx

 

[Nikki J]

Hi again Carly
Know it is hard to wait Hope that you are lucky and there is an opening.
Abnormal ncs is weird for ALS. Maybe ray of hope. You are a little young for c9 onset not supposed to start before 35. But c9 makes its own rules! Not sure what he went by paternal side comment c9 is absolutely equal opportunity!
How long have you had tremor? I have it too. Started 8 months before ALS symptoms and 2 ALS neurologists who research genetic ALS said absolutely unrelated to any of this.
Hang in there and keep hoping for different answer!

 

[carlyy_82]

Thanks Nikki for reply.

Yes I'm hoping the NCS thing is a good sign, but I'm terrible, I still haven't had my ct.

I'm just trying to get on with life, I don't really want to have the EMG now until August. What's it going to change? I went from thinking I had to know to I don't want to know!

I've had the tremor for about 6 months ( prob started a bit before but that's when I really noticed it). It's starting to get a bit embarrassing. It's mainly in my hands.

He also said it's more likely to be BFS if I have facial fascics, which I don't, but my lips do tremor if I have to hold my mouth open ie at the dentist. Maybe a good sign.

How did you guys cope in the diagnostic stage? I've really on.y had two sleepless nights then I just keep busy and don't think about it. I think it's worse because even if everything is fine now, I still have the genetic mutation, so either FTD or MND are a possibility.

I'm saving for a cruise with the kids! Just picked up some nanny work when the kids are with their Dad, all going in the holiday fund!

 

[MaxEidswick]

Just remember, stress is a triggering factor so try to keep calm ... See a doc if anxiety is an issue ...

 

[Santa joe]

Carly, thinking about you tonight and keeping you in my prayers. Max is right - try to keep the stress level down as much as you can. I know, easier said than done. Hang in there girl and keep us posted. We will all be here for you.

Debbie

 

[carlyy_82]

Thanks guys, I actually got a phone call today saying they have made me an appointment for the 6 th of June. EMG to be done and all tests reviewed, possible diagnosis date. He is going away shortly after that and wants to see me before. No more putting off the CT, I'm having it tomorrow. I'll prob do the fasting bloods in the morning too.

I was all good with waiting til August, I wasn't too stressed. I'm just sick of doctors and tests, I only had my pacemaker put in in January. Sorry to whinge, I know I'm lucky to still be in the maybe stage. I haven't noticed the fascics worsening which is a good sign.

I'll keep you posted, I'm so appreciative of your support.

Carly xx

 

[cervus]

Thinking of you, Carly. Yasmin.

 

[Nikki J]

Good luck. Please let us know how it goes!

 

[carlyy_82]

Hi, my CT came back clear. It is what it is

 

[Nikki J]

I am sorry Carly. Still hope there is some other answer. We are here for you

 

[carlyy_82]

I'm starting to let my mind wander. My kids are so little, Im a control freak, what if they get it and I'm not here to look after them? I think that last one is my major worry. If this disease takes me like it took my Dad and his Dad, I won't be here to look after them, and they will know. They'll always know it could happen to them. They are 5 and 6 now, but what if I'm not here to talk them through it when they are old enough to understand this could happen to them?

I just want to know, so I can start making videos, writing, typing, travelling with them. I don't want to do this until I know. Two and a half weeks feels like forever. I want to take them out of school and go away now. I want to run away from this.

We don't have ALS or MND clinics here, in Adelaide you get sent straight to a palliative care team. I know the process, I've seen it! I'm overwhelmed. Im not even scared for myself, although I know that sounds stupid and like I'm a martyr, and I'm sure I will get scared if I'm diagnosed but right now it's all about the kids.

I know I'm rambling. I'm tired. I just feel like saying can't you just do the EMG today? I sound like a crazy lady now but this limbo shit is tiresome.