Family member recent diagnosis

[redlady]

Good afternoon,

First of all my admiration to all the forum supporters, the work that you do here is amazing.

So, some history I am a 24 year old new mum & when my baby was 12 weeks old I was in bed and noticed my arm felt cold. I jumped onto google and stumbled across ALS. I then started to twitch in my nostrils I cannot say when but this eventually and quickly became widespread I don’t twitch constantly but I do twitch everyday for the past 5 months. I don’t think there’s a muscle that hasn’t twitched.

I went to see phsyio as I felt my knee was sore, but highlighted my concern around ALS he did a very thorough clinical assessment and found no abnormalities.

I continued to worry so I contacted my GP who also completed a clinical and found no concerns.

I then paid for a private neurologist, I believe he was senior and explained how he actually ran a respiratory clinical for patients with MND. The neurologist completed a clinical and was very impressed and diagnosed BFS. He said if I went back in 6 months with the same clinical he could give me a 100% certainty that I didn’t have MND

The twitches have continued. I feel like I drop my phone a lot. I know that sounds ridiculous and tbh I am able to comprehend that’s probably because I am on it all the time.

Some more history, my uncle was diagnosed with MND 3 years ago (my dads youngest brother) I discussed our family with the neurologist who also agreed that it was sporadic.

My nan and grandad both in 80s are healthy
My dads 2 other siblings and their children also healthy. I think my questions are, how can I clinician be so sure without an Emg.

And could this be the start of familial als, is it often that sporadic diagnosis’s often changes.

I am sorry to ask questions that have probably been covered but this worry is consuming my life. I am so scared of leaving my daughter.

 

[Nikki J]

The chances of you having ALS at 24 are incredibly low. Apparently sporadic FALS are generally low but when it happens it is usually c9 orf72 which is virtually non existent for 24 yos

Why do the doctors not need emgs for you? Because the emg is one test - ALS doesn’t just have an abnormal emgs it has an abnormal clinical exam which you don’t have. A lot of reassurance emgs are done in the US. It is a waste of scarce resources because they don’t reassure. We see it all the time - too early, wrong muscles, doctor says it is ok but they are liars. The UK can’t do that right now. The NHS as you know is struggling.

Stop googling. Take your neurologist clearance and be grateful

 

[lgelb]

Very frequently new mums are low in B vitamins, and/or iron. A supplement with 100% of the RDA (not a mega-dose) of B vitamins and iron may be a consideration. Of course, lack of sleep makes everything worse.

If you are on your phone all the time, you are probably amped up/stressed (esp. with a new baby), maybe trying to shut out being tired, and that can easily affect your perceptions of your body.

 

[redlady]

Honestly I have been lurking on this forum for over 4 months now, I’m so glad I have posted because your knowledge is so helpful! I did forget to mention I am b12 deficient and have received injections via GP for this due again in 4 months. Am I correct in saying the longer the twitches go on for the more likely they are benign ?

I think I’m so worried because with my uncles history and having symptoms of the same disease I think surely it has to be more than a coincidence

 

[KimT]

The twitches might continue and they might stop. Twitches are so very nonspecific that it really doesn't matter. I've known people with BFS who have twitched for years and some whose twitches just stopped. Please don't worry about them. Giving birth and caring for an infant makes women have lots of symptoms. Focus on a good diet, good hydration, taking a multivitamin, and getting good rest (I know it's easier said than done.). On pretty days, take your baby for a nice stroll outdoors.

 

[redlady]

Hi I forgot to mention I have been noticing I’m miss pronouncing words more than usual, my sister did correct me on a word the other day. Is this a worry with bulbar ?

Just too highlight it’s not everyday.. its just sometimes?

 

[Clearwater AL]

Redlady, you've heard from very ALS knowledgeable members. In ALS symptoms
do not just happen sometimes. And being just 24 years old and being worry burden
over your children after the info given to you above is not helping you or
your children.

It's very clear you need help with your Health Anxiety... for you and the children
that will be affected by it. I hope doctors get you for the children on to a
path out of this ALS worry you have. Twenty four more and twenty four more
after that.

Try hard not to read new and old threads here possibly finding something to
relate to and post. Maybe another ALS knowledgeable member can give you
something convincing... again.

 

[lgelb]

RL, all of us mispronounce words from time to time, esp. when we are tired, anxious, or focusing on speech. If you had a speech deficit attributable to ALS, you'd know about it.

 

[redlady]

Hi I’m so sorry to post again, I read a lot online on diagnosis stories .. a lot of people state that their first symptom is twitching. How are you all the experts so sure that twitching is not a concern. There must have been people on the group who had twitches then got diagnosed ?

 

[Nikki J]

Ok story with twitching. First 70 percent of the general population twitch. Most ignore it and it passes
Secondly most people who say they twitched first had in fact concurrent weakness when their full story is known AND OR abnormal neurological exams when they went to the doctor
Thirdly I can think of several cases of twitching first who in fact turned out to have their aLS diagnoses overturned
Fourthly the true twitch first group is very small and is mostly comprised of carriers of aggressive sod1 mutation. This is NOT you. This type of FALS has multiple family members in every generation. The other small group is older men. They do need an emg to rule out but once the emg is done even they are cleared

You were diagnosed with bfs. You are free to disbelieve your neurologist and us of course. It is your time and worry to waste

 

[redlady]

Can SOD1 not just form in a family though? And also the sod1 cases you’re talking about how long before weakness ?

 

[Nikki J]

As I said above the particular variant no. And the people I know with it have all died within 12-18 months of first symptom -not remained fine for a many months. We are clearly not reassuring you. You don’t believe us or your doctor so I am closing your thread. Address any more questions to your gp