Tomswife
Senior member
- Joined
- Aug 22, 2022
- Messages
- 689
- Reason
- Lost a loved one
- Diagnosis
- 08/2022
- Country
- US
- State
- NJ
- City
- Livingston
ALS, as we know, does not start with diagnosis. I get frustrated when asked the date of PALS diagnosis.
Studies have shown a presymptomatic stage of ALS. And, those fleeting pre-symptoms are the real beginnings. Many PALS can identify the symptoms that caused them to seek medical advice. For my PALS it was slurred speech and difficulty swallowing, March 2022. Those are the symptoms that persist. But in retrospect, there are incidents that are fleeting, happen once or so. These events are puzzling. With my PALS it was difficulty holding a drywall screwdriver. Why is he having trouble? He did not have arthritis. We talked about his hands. It did not make sense. We watched drywalling videos on YouTube, and purchased a specialized screwdriver! This was November/December 2021.
I am suggesting to try however you can to get a CORRECT diagnosis as early as possible. There is no single test. Clinics provide good care, and know ALS, but the wait of months for an appointment is not best for PALS. It is sometimes necessary to have multiple paths toward a diagnosis, meaning a qualified MND neurologist, perhaps while waiting for the clinic appointment. My PALS dx was done by a neurologist not affiliated with a clinic. Tests started March 2022 by our PCP. Referral to neurologist and EMG July 2022. Dx July 2022. ALS Clinic August 2022 (with pressure from me for immediate appointment).
Note: Is this ALS? The forum has a thread for undiagnosed people who have difficult symptoms. Our advice is to have the right tests and listen to your physicians. If you are told you do not have ALS, move on be well and get help for your symptoms.
This is an excerpt from article at n.neurology dot org.
July 12, 2022; 99 (2) CONTEMPORARY ISSUES IN PRACTICE, EDUCATION, & RESEARCH
Hastening the Diagnosis of Amyotrophic Lateral Sclerosis
Studies have found...."roots in the "presymptomatic" stage indicate that ∼20% loss of motor neurons had already occurred. Sera collected from individuals who later developed ALS and sera from presymptomatic members of families with ALS harboring pathogenic gene variants demonstrated high neurofilament (Nf) levels, again suggesting that the neurodegenerative process is already active at a clinically presymptomatic stage.Potential benefits of hastening the diagnosis of ALS include earlier initiation of therapy to slow the fundamental neurodegenerative process. Such effects are observed in treatment with rilzuole, edaravone, methycobalamin, and sodium phenylbutyrate-taurursodiol in patient care and clinical trial settings. Early initiation of multidisciplinary care results in cost savings and prolonged survival. Early diagnosis after symptom onset also appears to reduce psychological distress. So, how can we facilitate an earlier diagnosis of ALS? We already have the necessary tools. New and simple ALS diagnostic criteria (Gold Coast Criteria) have been introduced along with genetic testing. At least two studies provide Class II evidence that establishes the reliability and sensitivity of cerebrospinal fluid and/or serum Nf levels in supporting a diagnosis of ALS. Challenges, however, still exist as to how to facilitate earlier recognition of possible ALS by primary care physicians and other non-neurologist providers, and how to foster a sense of urgency among neurologists to accelerate the process of diagnosis".
Studies have shown a presymptomatic stage of ALS. And, those fleeting pre-symptoms are the real beginnings. Many PALS can identify the symptoms that caused them to seek medical advice. For my PALS it was slurred speech and difficulty swallowing, March 2022. Those are the symptoms that persist. But in retrospect, there are incidents that are fleeting, happen once or so. These events are puzzling. With my PALS it was difficulty holding a drywall screwdriver. Why is he having trouble? He did not have arthritis. We talked about his hands. It did not make sense. We watched drywalling videos on YouTube, and purchased a specialized screwdriver! This was November/December 2021.
I am suggesting to try however you can to get a CORRECT diagnosis as early as possible. There is no single test. Clinics provide good care, and know ALS, but the wait of months for an appointment is not best for PALS. It is sometimes necessary to have multiple paths toward a diagnosis, meaning a qualified MND neurologist, perhaps while waiting for the clinic appointment. My PALS dx was done by a neurologist not affiliated with a clinic. Tests started March 2022 by our PCP. Referral to neurologist and EMG July 2022. Dx July 2022. ALS Clinic August 2022 (with pressure from me for immediate appointment).
Note: Is this ALS? The forum has a thread for undiagnosed people who have difficult symptoms. Our advice is to have the right tests and listen to your physicians. If you are told you do not have ALS, move on be well and get help for your symptoms.
This is an excerpt from article at n.neurology dot org.
July 12, 2022; 99 (2) CONTEMPORARY ISSUES IN PRACTICE, EDUCATION, & RESEARCH
Hastening the Diagnosis of Amyotrophic Lateral Sclerosis
Studies have found...."roots in the "presymptomatic" stage indicate that ∼20% loss of motor neurons had already occurred. Sera collected from individuals who later developed ALS and sera from presymptomatic members of families with ALS harboring pathogenic gene variants demonstrated high neurofilament (Nf) levels, again suggesting that the neurodegenerative process is already active at a clinically presymptomatic stage.Potential benefits of hastening the diagnosis of ALS include earlier initiation of therapy to slow the fundamental neurodegenerative process. Such effects are observed in treatment with rilzuole, edaravone, methycobalamin, and sodium phenylbutyrate-taurursodiol in patient care and clinical trial settings. Early initiation of multidisciplinary care results in cost savings and prolonged survival. Early diagnosis after symptom onset also appears to reduce psychological distress. So, how can we facilitate an earlier diagnosis of ALS? We already have the necessary tools. New and simple ALS diagnostic criteria (Gold Coast Criteria) have been introduced along with genetic testing. At least two studies provide Class II evidence that establishes the reliability and sensitivity of cerebrospinal fluid and/or serum Nf levels in supporting a diagnosis of ALS. Challenges, however, still exist as to how to facilitate earlier recognition of possible ALS by primary care physicians and other non-neurologist providers, and how to foster a sense of urgency among neurologists to accelerate the process of diagnosis".
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