Familial ALS?

[abitofaprincess]

Hi. This is my first posting as I have been trying hard to ignore my now very obvious symptoms. Since June I have had twitches/fasciculations which have progressed from one foot to all over my body now. I also have cramps, severe fatigue in my leg muscles and several times a day my toes go into a kind of spasm and stretch apart violently (and painfully). Also my feet now have quite obvious wasting and my calves have become skinny (I noticed this when putting on winter boots which last year were a snug fit!) I assumed my early symptoms were related to a microdiscectomy last January so didn't go to my GP until late August. I was quite astounded by how seriously he took me, and he seemed convinced that the operation was not the cause. He did blood tests to rule out vitamin deficiency, thyroid, Myasthenia Gravis and infection. When they all came back negative he referred me to a neurologist. "You need a diagnosis" were his words.

My first appointment is 11th November.

Since being taken so seriously on my first visit to the GP, I have realised that my mother had ALS symptoms before she died. She had frontal lobe dementia from aged 66, and was under a geriatric psychiatrist in hospital when she developed breathing difficulties and died of pneumonia aged 68. She had severe weight loss, twitching, weakness, swallowing difficulties and loss of inhibitions. She was totally apathetic about everything, having been a very bright woman all her life. She also developed delusions. I now realise that FTD can be a symptom of ALS. I presume my doctor is taking quick action because of my mother's history? I am only 46.

Anyway, sorry for the long posting - any thoughts will be welcome and thank you all for your informative comments and helpful advice.

 

[jennibf]

I don't have any advice but I wanted to tell you welcome to this supportive and informative board that has a lot of AMAZING people who are diagnosed, awaiting diagnosis or just here to help. I have found it to actually be a calming respite in the midst of a lot of troubling symptoms.

I hope you get the advice you are seeking. I know 11th of November seems far away. I just had a visit Monday with my neuro and have to go to a teaching hospital December 23rd. One thing I am learning is patience.

 

[hopingforcure]

Do you have other family members that have had ALS? Did your mom have a diagnosed. ? did she ever have an EMG? We have all been there, It appears my mother had als, although she was not diagnosed. she never had an emg for she had a pace-maker. She did not have visiable atrophy or twitching, but she had weakness, speech problems, etc.. she was heavy-set, and maybe the atrophy would not have been seen, and ALS was not looked for in her diagnosed. it later makes sense after her death.

 

[a grandaughter]

I have a question that is very concerning to me. Is ALS a genetic disease? My grandfather has it along with the bulbar palsy so I am wondering if that puts anyone else in our family at risk.

 

[SuzyQ]

In the same boat

Hi,

I'm sorry for what i know you'll be going through right now.

I have seen the neurologist and having an emg on wednesday this week. I am also 46, live in the UK and lost my father almost 3 years ago to ALS.

I do know there is a massive amount of support on this site but i have had to drag myself awy from the computer as much as possible as i'd googled myself into imminent death and state of near panic.

I have tried so hard to focus on 'other stuff' but have found myself sat staring at the screen again as the emg draws near.

I don't have any answers but i'm here for you

Sue x

 

[SuzyQ]

Good Luck

Sorry forgot to say hope all goes well tomorrow/today

Sue x

 

[crystalkk]

Good luck with your appointment.

 

[abitofaprincess]

Familial ALS

Thank you all for your comments. I saw a neuro registrar on 11th. She listened to it all, observed my twitching, and has now ordered EMG tests and another blood test. She said that my symptoms were either benign or serious(!) Nothing in between apparently. The letter from my Gp clearly stated Motor Neurone disease. The EMG will be within 6 weeks. Meantime, I am just getting on with a very busy life, doing as much walking and swimming as possible, but work is a struggle as I get so many cramps now.

 

[abitofaprincess]

Neurologist v GP

Hi everyone

I saw a neurology registrar in November. She gave me a cursory examination and referred me for EMG tests which were done in December. I heard nothing for 4 weeks, so telephoned the hospital and was told the results had been sent back to my GP (family doctor, who referred me). I went to see him and he was annoyed as the results had not been sent to him at all. He was brilliant and chased them up, telephoned me at work within two days and read me the reply he has sent to the Neuro. Basically, the neuro registrar ignored all the information in the GP's original referral letter (family history included) and has advised my GP to try quinine on me as the most likely diagnosis is "cramp".

My GP is very annoyed and says that he has a lot of problems with the neuro department "bouncing back" patients. He was very frank with me, saying that yes, he understood that I could be showing symptoms of Motor Neurone Disease like my mother, and that I should be seen by the actual consultant, not a registrar. I actually felt much better once the words were said, and I felt "looked after" by my lovely GP. My symptoms are getting steadily worse and I now have visible wasting of the muscles in my left forearm, as well as considerable weakness (can't lift a pan of potatoes).

My husband is aware of it all and very supportive, and my sister, a nurse, who told me to get checked out initially, is also aware. However my Dad, 73, who had a lovely Christmas with us, bringing his new "girlfriend" , remains blissfully unaware. I figure that if it's nothing, he doesn't need the heartache after going through it with my Mum, and if it's something bad, then maybe he'll never need to know, if you know what I mean.....

take care, all of you.

 

[Zaphoon]

Abitofaprincess,

Please keep us up-to-date with your situation. I, for one, am anxious to hear what sort of conclusion all of this will come to.

Hoping the best for you!

Zaphoon

 

[lydia]

Hi Princess,

Your GP sounds terrific. Did you hear the actual results of the EMG?

Keep us all informed, everyone here will be rooting for you.

Lydia

 

[abitofaprincess]

Zaphoon and Lydia

Thanks for your support. I don't have any EMG results yet, but guess what? My GP faxes the consultant on 6th January, and today (10th Jan) I have a letter from the actual consultant inviting me for a consultation on 27th January! My GP is a star (or he's got some strange powers..............).

I'm still hoping my symptoms could be due to my spine degenerating further, although the weakness and visible wasting is a worry.

Take care all of you and stay warm! Even here in Derby, UK, it's well below freezing.

Abitofaprincess

 

[abitofaprincess]

Inconclusive but could be Neuromyotonia

Hi All

Had my consultation on the 27th, thanks to my Superhero G.P. The Neurologist gave me a proper examination and could clearly see my weakness, spasms and twitching. He said he is convinced it is not ALS, as the EMG tests did not indicate ALS, but he thinks it is Neuromyotonia: rare, apparently. His colleague works at the Queen's Medical Centre in Nottingham where, he said, they have better facilities and can test me for this. He is arranging me an appointment within 2 weeks. I feel relieved, obviously, as he says although it isn't curable, there is effective treatment.

Best wishes to all.

 

[abitofaprincess]

Neuromyotonia

Hi

Haven't posted for a while as it took time to see the specialist from Nottingham. Saw him today and he is convinced it is neuromyotonia. Apparently it is an autoimmune condition. He is putting me on anti-epilepsy drugs and keeping an eye on me, as he has done research in this field and says a small percentage "turn into" ALS. Feeling relieved and happy, but will keep a watch as my symptoms are getting gradually more widespread.

Kind Regards to all

 

[awieleba]

what is neuromyotonia exactly? If it is autoimmune, can you recover from it? I wish you the best and I am glad that you have a diagnosed.

~april