January 11, 2022 at 12:31 pm #21294CarolParticipant
Going for follow up appointment with neuromuscular Dr tomorrow. Very anxious. Symptoms progress stiffness and pain every day. Walking a challenge etc. All has been ruled out except MND. I know I’m repeating myself and I am sorry but here I feel not so alone. My question is has anyone had experience with or knowledge of neurofilament analysis for diagnosis of MND? I saw a few posts on it earlier on this forum. I really don’t know what else to ask the Dr tomorrow besides that. Everything else has been done .Think I will scream if she tells me just wait again for more progression. This has been the worst time of my life. Thank you for listening.
January 11, 2022 at 3:55 pm #21300Paul TavanoParticipant
There is no definitive test yet for ALS. There may be for other MNDs but I am only familiar with ALS. Have they done an EMG? This is pretty standard for ALS and is used as an indicator but not a definite that you have ALS. ALS is currently diagnosed when all tests have been run and all other causes have been eliminated. There are other indicators of ALS like finger curls, loss of muscle between your thumb nd pointer finger, weakness in arms and or legs, muscle twitching and slurred speech. Most ALS patients have some number of these issues and along with ruling out other causes of yor symptoms ALS becomes the default.
Good luck and hopefully you have something else.
January 11, 2022 at 5:37 pm #21303Barbara Ray-GruenParticipant
No advice, just wishing you luck Carol.
January 11, 2022 at 6:59 pm #21301CarolParticipant
Thank you for your response Paul. Extensive testing has been done. Ruling all things out. Had 2 emgs with indications of nerve damage in lumbar and cervical.but not widespread not yet. I know red flags. Don’t want it to be ALS but pretty sure it is at this point. Aunt and cousin had it. And I am evolving each day. Horrible . Hope you are comfortable. Have a good night.
January 13, 2022 at 4:01 pm #21316RichardParticipant
I have general information about an ALS diagnosis…
Just a few thoughts about the post ALS diagnosis and working with your physician or ALS clinic:
1. Be assigned a case manager, a point person. Someone who reaches out to you, navigating you on what to do, when to do it and how to do it.
2. Be provided an ALS primer. ALS introduction paperwork or at least an identification of websites to go to (in a specific order), so to understand the disease, what to expect, medication, research being done, self-help, etc.
3. Obtain a second opinion or third, fourth, etc. if necessary.
4. Rule out any ALS mimicking diseases, such as Multifocal Motor Neuropathy.
5. Be given an ALSFRS test upon initial ALS diagnosis. If you don’t measure it, you can’t determine the decline progression. Update it daily.
6. Familiarize yourself with ALS initial and advanced symptoms.
7. Discuss the possibility of being prescribed Riluzole.
8. Discuss the possible need for Social Security Administration (SSA) Social Security Disability Insurance (SSDI)
a. If you’ve received a diagnosis of Amyotrophic Lateral Sclerosis, you qualify for the Social Security Administration’s Compassionate Allowances program.
b. Request guidance through the SSA SSDI and Medicare process
c. Discuss the possible need for supplemental insurance for prescriptions, vision and dental
9. Discuss the possible need for handicap parking and apply if applicable before it’s needed.
10. Consider getting fitted for a wheelchair or motorized scooter before you actually need it.
11. Investigate technological options for communicating before the power of speech is altogether gone.
12. Consider your future housing needs.
13. Sign the AMX0035 fast-track petition, calling on the drug company and the FDA to make the treatment widely available as soon as possible.
14. Email your congressmen for ALS funding and treatment legislation.
15. Discuss with your physician any clinical trials being conducted. Working with your physician be presented with what is available and what would work best for you.
16. Develop your own personal (more granular) ALS functional rating scale test, so to more actually measure your disease progression.
17. Recommend to be questioned about family health history, nutrition, lifestyle habits, medications, injuries, surgeries, personality traits, occupations, etc. This should be part of physicians and clinics standard practice. Reason, from what I have read online sporadic ALS has unknown origins. Also, ALS progresses differently in different people. It would make sense that physicians and clinics obtain as much information about the ALS patient as possible to then be used for data mining in a US/worldwide database.
18. Sign up for PatientsLikeMe, a health information sharing website that helps people find new treatments, connect with others and take action to improve their outcomes.
19. Be aware of the “Right to Try” Act, which allows terminally ill patients access to experimental therapies that have completed Phase I testing but have not been approved by the Food and Drug Administration.
20. Discuss if exercising is an option to possibly slow down the disease progression and which exercises you’d most benefit from performing.
21. Since there is currently no cure for ALS all therapeutic options should be explored with your physician or ALS clinic:
a. Get informed about Complementary and Alternative Medicine (CAM) or Alternative or Off-label Treatments (AOT). Even if you only benefit by the placebo effort, you’ll feel better and that’s what we’re all trying to achieve.
b. Discuss trying ALSUntangled recommended therapies. Therapies showing some benefit and are not ”we do not recommend” should be discussed with your physician as possible options.
22. Discuss being prescribed Radacava.
January 14, 2022 at 8:27 am #21317Kathleen B (Katie)Participant
WOW! A very extensive list Richard—but VERY helpful. I’ve been going to a University ALS Clinic in Michigan (USA), since diagnosis in May 2021, which was: Limb onset (left foot drop) Sporadic ALS @ age 65…none of 33 known genetic markers at all…likely an environmental toxic impact unique to my particular body system.
…not much peace of mind since trial of 2 months on Riluzole did not go well…so, ‘nothing else slows progression’.
However, I will use your list, and reach out to the ‘case manager’ assigned—now that I know it’s her job description to be the ‘point person’ for me on Q & A!
I am grateful for this Forums & other pALS sources, but it’s overwhelming to try & learn to help self AND live well and enjoy life—while trying to mange finding a ‘balance’ — literally & figuratively!
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