[Kiki]

Thank you for the great idea to record Dr sessions. This will not only help Amanda but also other undiagnosed readers.

Kathy, you’re totally right for undiagnosed readers without a genetic mutation, there is still a lot of hope esp. when they haven’t got the full differential diagnosis: spinal tap, blood work, MRI, CT, EMG, EEG, ENG etc…. when all similar conditions like MG, neuropathies, myalgias, inflammatory diseases have been ruled out the hope is vanishing…

Though I am grateful that this forum and thread exists and we can come here an share our worries. Again I’m so sorry that you have to go through this, Amanda but very grateful for your volunteering!!

I hope that a cure is found asap and all pals are healed or at least could stop progression which would also mean a lot in the medical world!! ?

Best whishes to all of you.

Kiki

[Kiki]

Not sure if I understand the question correctly but I thought that the videos of everythingals on Youtube are quite interesting. A lot of research but also some theories on the cause are available.

[Kiki]

Hi Amanda,

I just read this post and keep thinking of you. I wonder how you are doing. It’s so kind of you to volunteer and help pals/ als research and as every Pals you deserve the best treatment.

I know sometimes life is cruel and living with the knowledge of having a mutation must be very hard so it’s totally normal to tear up at times. But I guess you also focus on positive aspects. It really seems as if you’re in very good hands with your neuro. It’s a good thing that your mutation is associated with a slow progression and a medical treatment is on the horizon.

The severe abdominal cramps and twitches down there are familiar to me as well. They startet circa 10-15 years ago and I had several colon endoscopies. Earlier I thought it’s hormones… I haven’t been diagnosed so far. Like you I also have cramps in other muscles (tongue, throat, chest, hand etc). Though genetic testing hasn’t been done yet. Now my vocal cords are partly paralyzed. The fear is overwhelming but it’s a wait and see approach for me too.

I really hope ? that you are not diagnosed until a cure is found.

Beat whishes

Kiki

[Kiki]

Hi @Georgi,

Thank you so much for your informative response which I just saw unfortunately but I’ll try to check the lab you recommend.

As Germany is very conservative genetic testing seems to be a bit problematic without a diagnosis of ALS in ones family though I’d spend the 85 €. When you have a diagnosis financing the genetic test depends on the health insurance. Due to new therapy options for gentic ALS such as Tofersen, the insurance will likely finance genetic testing in the future.

Personally I am still in the diagnostic process and doctors are quite hesitant as my symptoms are still too unclear (lots of cramps in small muscles, jaw clonus, partly paralyzed vocal cords…)

The good news is that the new biomarker NFL/ tau proteine gets more attention and is studied here as a new tool for early diagnosis/ speed of progression and perhaps it might even show if studied meds help. You can send a blood sample to the Charité in Berlin to find out how high the NFL is.

Have you been diagnosed by now? I certainly hope that sth treatable was found!!

Best wishes

Kiki

[Kiki]

Hi Lisa,

Not sure if this is good or bad news. A new neuro will perhaps have a different approach and better idea of what might be wrong.I hope that you are right and have a certain form of neuropathy or age related atrophy/ myositis?. Guess a whole spine mri seems about right to rule out other things. Though when an emg Shows chronic denervations in several areas and even your brain shows atrophy I thought that this would be enough to diagnose als at least in a possible way but I am no neuro and haven’t seen your documents

Guess that the neuros are so hesitant is a good sign as they definitely think something else pointing away from ALS must be going on. I can just recommend you to have someone else look on your emg/reports in a forum or online neuros or if you can afford a second opinion. Make sure to have someone with you at your next appointment as sometimes the info is so much that you might remember things the wrong way. At least I would be confused with all these tests and medical advice in 3 years. Being in limbo is horrible but there is still hope so try to at least smile once a day even if it is super hard.

I have another emg in summer. Due to covid the waiting list is super long here and honestly I am in an emotional roller coaster every day. Although seeking psychological help might be a good idea if symptoms and thoughts prevent you from sleeping.

Wish you all the best!

Kiki

 

[Kiki]

<b>Hi, I read about the supplement berberin which has similar effects as metformin. Also vitamin E, D and B might </b><span style=”font-size: 16px;”><b>delay</b></span><b> onset. Although I would always talk to my PGC before taking any supplements due to the mentioned side effects/ overuse. </b>

<b>Regards  </b>

[Kiki]

Very intersting article. My granddad had FTD and in the end he could neither swallow nor speak so even the symptoms are kind of related to ALS but with the science behind this makes even more sense. Though I guess finding a super pill for both neuro degenerative disorders seems far away to me. ALS itself seems like multiple disorders at once that perhaps need to be treated with many pills but this is just my simple guess as so many wrong mechanisms seems to go on in the brain/gut/microbiome of PALS.

Regards

[Kiki]

Thank you for your response Lisa, I really hope that you will receive answers this Friday. Guess the questions you ask depend on your Neuro. If you are still open for other causes he will surely not put you in the anxiety corner but with a confirmed atrophy and your increasing symptoms you have definitely the right to ask for another Emg.

The NFL blood test is just a very new biomarker that is done here additionally to the mentioned EL criteria. Many people with ALS symptoms get tested here at the Charité in Berlin its around 100€ per Test; increased NFL markers also show how fast the disease might progress. Even if the Emg criteria still has to be met to get an ALS diagnosis, the test is at least sth for oneself to possibly rule out ALS if the markers are low. Further I read on another forum that a woman with confirmed atrophy had a hormonal issue causing muscle waste :

https://www.als.net/forum/yaf_postst57502_Eurika-I-found-the-cause.aspx

Just try to help a little as I know how it feels like to be stuck in limbo with ALS. My hope is still Myasthenia gravis although the twitching and cramps (which I have too) do not occur in that disease.

Just hope to help a little. Keep us informed. Best wishes

Kiki

[Kiki]

Hey Lisa,

I just came across your thread. Just wondering how you are?? At the moment I am also in the middle of getting diagnosed. Like you I still have a little hope left. Also I read a lot about the Emg. Since you wrote that you had several dirty Emgs I am wondering what takes neuros so long to come up with a diagnosis. I read that with 2 denervations in 2 different muscles you are diagnosed with probable or possible ALS? Surely you came across that too. Here in Europe we have a blood test for neurofilament light chain markers which are increases in ALS.  The test is not 100% as this biomarker is increased in stroke and alzheimers too. This is why they hesitate to use it but how likely are the two others with typical als symptoms. Perhaps you can request that too otherwise it is done via lumbar puncture.

Just ask your neuro for it. I have my next emg in late spring perhaps may and will ask for the test too.

Best wishes,

Kiki

 

[Kiki]

Hi Deborah,

I also haven’t been diagnosed yet and was wondering whether you found out if it is ALS ? of course I hope it’s sth else more treatable.

 

Best wishes,

Kiki

[Kiki]

Hey there,

At first thank you for providing this forum and helpful advice/studies. I am just wondering how people get tested as the whole ALS topic is quite new to me.

We have FDT ( granddad, mom) in our family history but no ALS. At the moment I have strong symptoms but no confirmed atrophy. I’m quite young (29yo). Should I get tested for the C9 gene? Is it done by a neuro or is it a whole genome sequencing paid by oneself?

Sry for asking all these questions. I just don’t know what to do meanwhile as my next Emg is in June, so it’s quite a long time…

Best wishes!!

Kiki (german)