May 5, 2021 at 12:13 pm #18718
So, I had my pre-fALS visit last week. The testing was the same, not enjoyable but bearable. I love the research team at the University of Miami. They have helped with so many advances in the field. I am honored that I can help by volunteering.
After completing the questionnaires and the exam, Dr. Benatar came in to speak with me. To be honest I don’t know if I can recall everything he told me or if my details are spot on because my head was spinning. I was overloaded with information and fear. I’ve been participating in this study for over 10 years. I’ve had over a dozen family members with ALS, and I have the I11T3 mutation on the SOD1 gene which is associated with a slow ALS progression. I’ve always had some symptoms like twitching, muscle cramps, and clumsiness. I honestly can’t remember those not happening. All of my testing since I started volunteering have had abnormalities consistent with ALS. The combination of all those things has always had the research team watching me closely.
Over the past 4 years or so, I’ve had severe cramps in my abdomen, both sides and below my rib cage. I’ve never associated this with ALS. I’ve been seeing doctors and doctors and doctors 🙂 They have tried to rule out things like crones, colitis, and Diverticulitis. I have another colonoscopy next week to check for colon cancer and/or inflammation again. They keep throwing around IBS as a possibility. I even asked if this could be related to possible ALS and was told no by the gastronalogist…WRONG! The pain is severe and I often end up balled over screaming.
I’ve also had increasing stiffness in my legs. At times I struggle to take the first few steps after standing up. Once I’m up and walking it is much better. Of course, at my age I assume it’s arthritis or something of that sorts from all the physical jobs I’ve had over the years.
Apparently with the specific mutation that I have there are many cases that include issues with the digestive system and adobeman. I’m still trying to find articles and learn more about that so that I have a better understanding. It may be that there really isn’t a good understanding within the medical field. And the stiffness is much more serious than I realized. I struggle with going down steps at times, or just stepping down from a curb and I keep falling when I ride my bike (but I’m still doing it). Of course there are other things too. Compensating to slow changes in your body is normal and often goes unnoticed until you meet with doctors. Then you are confronted with the truth!
Dr. Benatar said that the testing continues to reveal abnormalities and these are consistent with the areas that I am experiencing problems in. He said that he isn’t diagnosing ALS yet, but he seemed certain these were precursors to the onset ALS. I got the sense he was on the fence about the diagnoses. He said a lot more, but honestly I’m still overwhelmed and adjusting. I teared up and came to some realizations. All these years I felt my greatest motivation was to help researchers find a treatment so that my younger family members would not have to carry the burden or stress of wondering “Am I next” or “Is this ALS.” Then when I started working for ALS News Today and virtually met so many of you, you became the reason I continued to volunteer. With my eyes filled with tears (I did a good job of holding them back for the most part), what felt like an elephant standing on my chest, and paralyzed for a moment, I realized that I too was part of my own motivation. I was/am terrified! I need to focus on the here and now and enjoy my life!
The good news is they are in clinical trials for a promising treatment for ALS associated with a mutated SOD1 gene. This is what we have been reading about in ALS News Today with Toferson. I am not eligible for the studies because the mutation I have is associated with a slow progression nor do I have an official ALS diagnosis yet. If this treatment is successful, then it will help researchers find cures for ALS. There is suspicion that all ALS has mutated genes involved, they just haven’t identified all the genes and mutations.
I thought about so many of you while I was in Miami. I wondered how you felt and if you had suspicions prior to diagnoses. I wondered so many things about each of you. I pray that there is a cure or treatment on the horizon for all those who need it.
I am grateful to be part of this community. I am grateful to be able to volunteer. I am grateful that I have so much goodness in my life. I am grateful. I will continue to volunteer and keep you posted.
May 5, 2021 at 11:13 pm #18724Lisa RyanParticipant
I am so sorry to hear this Amanda. No doubt you are in shock and are struggling to deal with this.. everything you have said is my experience also. Especially when you mention taking the first few steps after getting up from sitting. That is very hard for me as well but when I get going I am OK it’s just getting my body going because of the stiffness and pain. I am still waiting for answers as well. I also have progressive atrophy and pain. I’m glad you could go to such a good major centre and find a good doctor. I still am waiting around for a referral to another in neuromuscular centre I am so frustrated but in my gut I know this is not good. I hope fine thanks and hopefully they do find some cure for that mutation. I believe I also have a slow progression with symptoms from 2017 until now with abnormalities on my EMG for the last four years I feel your pain and frustration.
May 6, 2021 at 10:49 am #18731Marianne OpillaParticipant
Thanks Amanda for sharing. I can’t imagine wondering for years if/when ALS will be officially diagnosed. Please try to put speculation in the far back of your brain and live in the moment. Stay strong and positive!
May 6, 2021 at 2:40 pm #18735CindyParticipant
Keeping you in prayer. Cindy
May 6, 2021 at 2:44 pm #18736BillParticipant
Sorry to hear that you are experiencing potential symptoms. With me I experienced early symptoms long before diagnosis, nothing even prompted me to think ALS or MND at all until a orthopedic doc told me my muscle atrophy in hand was not arthritis. Mine is a familial problem but the mutation remains undiscovered. We’ve tried unsuccessfully to find it. I was in preFALS also, as having familial ALS.
Let’s hope the SOD1 treatment is going strong if you need it. Stay positive, lots of hope!
May 7, 2021 at 3:59 pm #18759Carolyn BarryParticipant
Thank you Amanda for sharing all you did. My heart goes out to you, and I am so grateful for you. You have given endlessly of yourself for all of us members on these forums. You’ll continue to be in my prayers.
May 7, 2021 at 4:19 pm #18763
I’m sorry you are experiencing so many difficulties and I agree with the other forum members that you have done so much to help all of us! I hope your symptoms are able to be treated so you can feel better soon. Thank you for volunteering and we are all praying for you and wishing you well!
June 28, 2021 at 5:54 am #19699KikiParticipant
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.
June 28, 2021 at 9:49 am #19702
I really sympathize with all of you who are waiting to find out what is causing your symptoms. However, I disagree that the waiting is the hardest part. To me, the hardest part is actually having ALS and trying to cope with the mental and physical effects of this condition. When you are waiting, you might not have ALS. You might have a condition that is able to be treated effectively. With ALS, there is no cure and no effective treatments. Many pALS die within a few years after being diagnosed. My hope is that those of you who are still waiting will be able to get treatment for your symptoms so that you can feel better. For those of us that have ALS, I hope that a cure will be found soon.
July 3, 2021 at 8:06 am #19776
I understand your perspective and respect your input. By no means did I mean to downplay what pALS go through and I understand that there is a difference in waiting and having ALS. I hope and pray that all of the research leads to treatments and cures for all in our community.
June 29, 2021 at 2:06 pm #19718Debra KaufmanParticipant
Amanda – you are my hero and I know that so many people on this site get a lot from your contributions. I’m sorry you are going through this. Waiting is the hardest part. Next time you see the doctor, try recording what he says either on your phone or with a small inexpensive digital tape recorder. That way you catch everything he said and can listen to it later when your head isn’t spinning as much. Just a suggestion. I’m rooting for you. All the best.
July 3, 2021 at 8:07 am #19777
Debra, those are great ideas!! Thank you!
June 29, 2021 at 8:56 pm #19723Jim ConnerParticipant
Amanda my thoughts are with you. It is all too familiar that patients are waiting 18 months to 2 years or more for an accurate diagnosis. The stress from this, as any disease diagnosis, is extreme. Unfortunately the medical systems we have now in most countries are so wound up in insurance, lawsuits etc., that physicians of all stripes have a long road to walks to get an accurate diagnosis no matter what. Also in your case there is the extra step of the genetic cause with again different medications, symptoms and genetic markers. Progress is being made, but for us in the trenches with our caregivers, family and friends it is a frightening future.
I made some extra cash responding to a survey from University of Washington awhile back. I did not need the cash so I looked to donate it somewhere. A couple of places never responded. I read an article about the Un. of Miami work with ALS. They got back to me quickly and although I hate their sports teams, I sent them the money, a transcontinental money transfer. I got a super nice thank you. I just feel like I helped a little bit and would it not be cool that it helped you and others at U of M dealing with ALS!
Be Lions Not Sheep
July 3, 2021 at 8:09 am #19778
Thank you. That is beautiful and I really think they are on to something with their pre-fALS treatment.
July 3, 2021 at 8:54 am #19780
Thank you for your post. I’m sorry to hear that you are experiencing so many difficulties and we are all wishing you all the best. Thank you for all that you do to help pALS and their caregivers.
July 4, 2021 at 10:03 am #19788RichardParticipant
Hi Amanda, my thoughts and prayers are with you and I’m sorry for what you are experiencing!
I agree with Debra Kaufman, record your sessions with your phone. I’ve been recording all my important interactions for years. Additionally, all my cell phone conversations are recorded. It’s been very beneficial to be able to go back and hear what was exactly said.
Hoping and praying that all the research will lead to treatments and cures for all pALS.
July 9, 2021 at 10:08 am #19840KikiParticipant
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.
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