MS, ALS or both? Has anyone experienced something similar?
Greetings, everyone.
This is my first (29M) post and it has to do with the health issues my mom(62F) has been dealing with during the last couple years. I know that you cannot get a diagnosis through the internet, but living in a town in a Greek isle, you will understand that, given how complicated things are, it's impossible for doctors here to be sure about anything. I tried reaching to a forum regarding ALS, they did refer me to a centre that deals with Neuromuscular Disorders, but they haven't seen something like this either. If any of you have had similar symptoms and/or exams, please let me know.
So, to begin:
Mom was 19 y.o when she suddenly lost her eyesight for a couple days. Her eyesight did come back and the doctor blamed it on anxiety because of school and never searched further.
Some tingling and back/leg pain during the following decades which would come and go, but still, she saw no reason to look into it, since it would resolve on its own.
Fast forward to 2016, for a period of time, she has objects falling off her hands, but again, it goes away so she does not look into it.
2019-2021 she starts complaining about lower back problems which caused her to be tired. Gets MRI, doctors find herniated discs.
Middle 2021, she seems to be quite uncomfortable with the lower back pain, causing her to lay down a lot, but she could still easily work (sometimes 15 hours/day), swim, drive, walk with no issue and even run when she had to.
2022 she gets Covid, experiences flu-like symptoms, but then her back problems and tiredness start to get slightly worse. She decides to get a surgery for hernia in October 2022.
After getting out of surgery, she stays at home for 1 month and then goes back to work, but, as you will see, not for long. She was complaining that her recovery was not supposed to be taking so long.
January 2023, a relative notices slight changes in her speech, so she decides to look into it. Gets an EMG, which shows abnormalities and her doctor thinks it is ALS. Later that day, she gets an MRI and it shows demyelination in the medulla oblongata, which would be consistent with MS. This is when things start to get complicated.
During the following 3 months, her mobility gets noticeably worse, which made her stop working.(Small steps, would slouch after 1 minute of walking) She also gets a CSF test, which shows oligoclonal bands, again consistent with a Multiple Sclerosis diagnosis. During that time, she also got Covid again, which seemed to exacerbate her situation.
April 2023 doctors prescribe cortisone to her, to see if it helps her.
And it did, for the whole summer, mom was like she was in January. Her steps got bigger, slouching stopped, she could easily walk unaided, she even went on holiday and to the beach! She even thought that maybe she could work again.
Middle of September comes and the effects of cortisone start to fade away, she now slouches when walking again, her steps get smaller day by day and she is in pain again. Also has some swallowing difficulties, but she is still able to eat any food.Doctors decide to give her cortisone again in October.
This time, her reaction was not good. For the first couple days after the cortisone treatment, her oxygen levels dropped and she had to use an oxygen tank. After that, her oxygen levels were normal but she had elevated PaCo2 (48 mmHG), which made her breathing a little bit harder. Doctors say it was because cortisone temporarily weakened her muscles. Her movement was also slightly impacted as the weeks went by, but she could still make some steps, slowly. Doctors prescribe Copaxone to her and she gets it every other day since December 2023.
Her oxygen levels were pretty good until end of January 2024, when, after a physiotherapy session, dropped to 88. We took her to the pulmonologist to measure gas, her PaCo2 levels were 52 at this time, but she had the cortisone in October, so it can't be the reason. Doctor provides her with a Bipap to use during the night.
AFAIK she's doing a little better with the Bipap, even though she isn't used to it yet, so she wears it for a couple hours during the night and another couple hours during the day. She is seeing some small improvements, regarding breathing and speech. (Oxygen levels 90 while laying down, 92-93 when sitting and 95 when using the Bipap).
My question is, does it make sense for Multiple Sclerosis in the medulla to cause all this mess?Can MS show abnormalities in the EMG that could point to ALS? Has this occured to anyone else?
On the one hand, EMG shows abnormalities consistent with ALS and the fact that her health deteriorated so much within 1 year points to ALS. However, MRI and CSF point to MS, which, given the affected areas, could be responsible for her speech and elevated Paco2 levels. Could MS progress so fast in one year that she ended up using a Bipap machine, though?
Again, I know this is maybe not the right place to ask for specifics, but we are truly frustrated and worried. We live in a quite small town and such cases are too rare for doctors to have experience with them, so your opinion and experiences could possibly make a huge difference. If you need any more information, I will gladly provide it to you.
Thanks a lot in advance and sorry for my poor English!
I wish all the best to you.
Hello SkunkGR
I'm truly sorry to hear about your mother's health challenges. It sounds like she's been through a lot, and I can understand your frustration and concern. While I'm not a medical professional, I can provide some insights based on the information provided.
It's important to note that both Multiple Sclerosis (MS) and Amyotrophic Lateral Sclerosis (ALS) are neurological conditions that can present with a wide range of symptoms and progression rates. Both conditions can affect motor function, speech, and breathing, albeit through different mechanisms.
MS is known for its unpredictable course, with periods of relapse and remission. It can affect various areas of the central nervous system, including the medulla oblongata, which controls vital functions such as breathing and swallowing. Demyelination in this area could indeed lead to breathing difficulties and swallowing issues, as well as other symptoms consistent with MS.
On the other hand, ALS primarily affects the motor neurons in the brain and spinal cord, leading to muscle weakness and eventual paralysis. While ALS typically progresses more rapidly than MS, there can be variability in the rate of progression among individuals.
Regarding the EMG findings, abnormalities consistent with ALS could potentially be seen in individuals with advanced MS, especially if there is involvement of the upper motor neurons. However, abnormal EMG findings alone are not sufficient to confirm a diagnosis of ALS, as they can also occur in other neurological conditions.
Given the complexity of your mother's case and the overlap of symptoms between MS and ALS, it's crucial to work closely with her healthcare providers to obtain an accurate diagnosis and develop an appropriate treatment plan. Additional tests, such as nerve conduction studies and further imaging studies, may be needed to differentiate between the two conditions.
It's understandable that you're feeling frustrated and worried, but please know that you're not alone in this journey. Seeking second opinions from specialists with expertise in neurology and neuromuscular disorders may also be beneficial. Additionally, connecting with support groups for MS and ALS can provide valuable resources and emotional support for both you and your mother.
I wish your mother all the best in her treatment and recovery journey, and I hope for positive outcomes and improvements in her health. If you have any further questions or need additional support, please don't hesitate to reach out. Take care.
Ma'an Omar
As I found out yesterday, she did get a Nerve Conduction Study along with her EMG, which came back normal. From what I read, it's supposed to be normal in MS, but also in ALS.
CommunityMember8849205 Thank you so much for answering, I really appreciate that sir!
A big problem is that the experts, especially in my country, as good as they are in their job, have seen very limited cases, because it's a small country with a quite low prevalence of ALS. So, even if there is anything that completely rules out ALS, they probably wouldn't be able to spot it. Everyone that we contacted, even in Athens, have told us that they have never seen such a thing before and that it probably it's PPMS or a very aggressive form of SPMS that started from when she was 19 but never gave symptoms that lasted long enough for her to search further. The reason they say this is because the odds are like one in a billion, she would be the first verified person in Greece diagnosed with this commorbidity! Since I see that you do have a lot of experience, does it say anything that her speech, swallowing, breathing and legs are affected, but her arms are not? She can easily clench her fist,squeeze my hand, write, cook (while sitting), etc. Also, she feels quite a lot of pain, which, as I have read in various sites and papers, is often not present in ALS. I'm glad you took your time to answer to me and I am glad you seem to understand what we are going through now, we don't know what to expect for the future and this uncertaintly has taken a heavy toll on her and our mental health. If anything can be called "the worst of the times", this is it.
I just want to say that I think you're an amazing support to your parent in trying to find out as much information as you can. May we all be so lucky to have someone in our corner like that! I can't imagine how frustrating it must be to be in a smaller country with what sounds like rather limited resources. That's wild that she would be the first verified person in Greece to be diagnosed with that comorbidity. If that is the case, are the doctors you're currently working with willing to share her information with neurologists in areas where maybe there is a higher prevalence of the suggested conditions to review? The community member who shared above had some great points about making sure there is as much diagnostic testing as possible for your mother and getting second or even third opinions since it sounds like such a complex case. I want to reiterate that we are not medical professionals and cannot give medical advice, but we are here to give you as much support as you need throughout this journey. 🧡 Kayleigh, MultipleSclerosis.net team
