Introducing Myself - And Question about Guilt Over Delayed Diagnosis

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Jan 22, 2023
I’m new to this forum as my best friend was just diagnosed a few days ago. I don’t even know if I could technically be considered a caregiver now as he is still very independent. But I am committed to helping him through this all the way, and have already started helping him with research, getting on disability benefits etc.

I am of course feeling all the emotions one feels with a diagnosis like this in a loved one. But one thing that I haven’t read much about (I’ve been reading about ALS nonstop for days, of course) is the huge amount of guilt and regret that I did not push him harder to seek medical attention earlier.

He has tested positive for the C9 gene, and his condition began with losing the use of his right hand about 2 1/2 years ago. He didn’t seek medical care immediately, and when he did it was with a hand surgeon who diagnosed him with ulnar neuropathy and referred him to a neurologist.

He didn’t see a neurologist, though, and said later it was because he didn’t have health insurance.

The condition seemed to stay pretty stable for about a year and a half - the hand got a little worse, but neither of us had any clue that the problem extended beyond his hand.

But in early 2022 he started having problems with his right leg too - but didn’t tell me. He did move forward with getting health insurance, but everything took at long time, and it was September 2022 by the time he got in to see a neurologist. Then the testing took months. But things seemed to accelerate this year, and by this time he had lost over 30 pounds of muscle and was beginning to look visibly disabled due to the muscle loss and difficulty standing fully upright. (His testing showed abnormalities in all four extremities even though his left side functioning is still good.)

For the past 8 months or so - since I first realized this was more serious that I had thought - I have been having huge regrets that I did not just bundle him in the car back in 2020 and insist he see a neurologist, and pay for the visit and any subsequent testing. I had savings and could have done that. And of course, after the diagnosis I feel this even more strongly.

I know I can’t go back and change the past, and that the best thing to do now if focus on how I can help him materially and psychologically as we move forward. But I am still tormented with “if we could have gotten him on medication for ALS in 2020, would the decline he experienced this year have been delayed for many years?”

I realize that there is no way of knowing the answer to that question. But, I was curious about whether other caregivers and loved ones - or PALS, for that matter - have had similiar feelings or experiences in relation to delayed diagnosis.

Any thoughts or stories you care to share would be most welcome.
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My sister’s diagnosis was delayed by several months because she got sidetracked by seeing neurosurgery. I lived a significant distance away and was very ill during this time. Given our family history I think I might have spared her that had I been there to see it. but the circumstances conspired against me as they did for you.

However had he been diagnosed in 2020 he might have got into a c9 gene blocking trial from Biogen. That would have been bad because not only did the trial fail - it accelerated progression in the dose his cohort would have had. So maybe it was a blessing in disguise
Thanks for your thoughtful reply! Your account of the clinical trial is another illustration of the futility of thinking “if I had done x, things would be better now…” We can never know what would have happened.
Nothing you could do if he didn't have insurance.
You didn't mention why he was tested for C9. Did he have insurance then?
Allie, everyone here is living with regrets. Don't let them sidetrack all the living as best friends you can still do. And in your friend's case, as Nikki says, early diagnosis might actually have been disabling.

My husband's care-seeking for the symptoms that ultimately were dx'd as ALS, was delayed by about a year from symptoms and 2-3y from abnormalities on PFTs and EMG that were chalked up to his Marfan Syndrome. We only went back for another EMG when his arms became sticks.

The one med (riluzole) that he might have started early, he ended up not taking anyway.

He had so many surgeries and limitations before ALS that neither of us regretted his delayed dx for one second.

And even if he had been healthy, based on the studies he participated in, he was previously exposed to pretty much every toxin on the "possible ALS causes/triggers" list.

Many of his best experiences were things that people aren't supposed to do -- especially with his conditions. It's entirely possible that largely ignoring his Marfan triggered his ALS. I believe he's still the only confirmed case of both. But typing that sentence is as much thought as I've ever given that possibility, and I'm sure he gave it even less.

In short, there's always something to regret. But that train only bypasses all the good life that is left. As you say, you will be a great help to him, and in your place and time, that's everything.

"I balanced all, brought all to mind/the years to come seemed waste of breath/a waste of breath the years behind/in balance with this life, this death." -- WB Yeats
Thanks for your reply, Lynn! And sorry that I wasn’t clear - I was trying to keep the story from getting too long.

He had been unemployed for a few years when this all started, so he had no insurance and not much money. After he started having problems with his right leg in early 2022 (that was about 18 months after the right hand difficulty started), he got himself enrolled in Medicaid. Then he began the process of seeking a diagnosis - but it was a long process, because Medicaid required him to see a primary care doc first, then the neurologist (who he finally saw for the first time in Sept 2022.

The neurologist said he thought he had a motor neuron disease (based on symptoms, EMG, and atrophy, as well as a negative MRI and CAT scan to rule out a mechanical cause). But he thought it was atypical spinal muscular atrophy (SMA), because he thought if it were ALS he would be in worse shape after more than two years. The neurologist ordered genetic testing for a number of conditions. It came back negative for atypical SMA and all the other conditions they tested, and positive for C9 (we just got the results of all last week).

I guess my guilt/regret is because I could have: 1) pushed him harder back in 2020 to get on Medicaid and seek medical care; or 2) just paid for his consult and testing (or at least some of it) out of my savings.

I have been reading the posts on this forum of young people who think they have ALS, although they don’t really have the symptoms. I was on the opposite end of the spectrum - the thought that he might have ALS did not even cross my mind in 2020, even though he could no longer use his right hand to tie his shoes or button and shirt. I thought it was a compressed nerve or something like that.

I should add that the PALS was adopted and had no knowledge of his family medical history.
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Welcome Allie. Thank you for being ready to walk this with your friend.
I hope you get past that guilt. It is futile, and it won't help your relationship.
Really, even with medication there are no guarantees with this disease.
What you can do now is make the most of the time you have, become a solid rock for your friend, and live each day.
I hope that doesn't sound trite. As a CALS I always advocated for what my husband wanted, not for what I wanted. So I didn't agree with all his decisions. But they were his, it was his body.
ALS can make a PALS feel like they have so few choices.

Do remember that you are also still in the shock stage having recently learned of this diagnosis. Be as kind to yourself as you will to your friend.
To lgelb - I loved “everyone here is living with regrets. Don't let them sidetrack all the living as best friends you can still do.” Perfectly expressed!

I know that deep down, but it helps so much to hear others say it, and to hear other’s stories. Thanks so much for sharing some of yours. ❤️
Allie. I am so sorry your friend is suffering with ALS and you alongside him. ALS is difficult to diagnose. When my husband started having persistent symptoms, he went through many tests and months before an experienced neurologist told him, Bulbar onset ALS. During those months we suspected ALS as diseases and conditions were ruled out. Diagnosis is a process of ruling out other diseases. The doctors are peeling away possibilities (stroke?) until the final EMG. Then there is nothing left but ALS. And then. After the Diagnosis you remember little hints of something wrong months before you took any action. We saw our PCP in March 2022. After the Diagnosis in August I started remembering subtle changes that were not persistent but would come and go as early as December 2021.

Someone once told me. "You cant paddle someone else's canoe ". Your friend in some ways was trying to protect you from distress. And kidnapping is illegal. 😀

Be there in the present. Enjoy your time together. Reach out to the nonprofits for help.
The only thing that I'd like to add is that your friend is very fortunate to have YOU in his life. An amazing friend like you can make a world of difference to a PALS. I'm sure he knows it.
I've had regrets and I believe if we all had a do over, most of us would do at least one or two things differently.
You're the kind of friend every PALS dreams of.
Best wishes,
To Affected: Not trite at all! That is very helpful. And, it’s especially helpful to be reminded that we are both still in shock about the diagnosis. Thanks so much!
To Tomswife: Thanks so much for sharing your experience. Loved “Kidnapping is illegal!” 😀
Sometimes pushing is not appreciated by the person getting pushed.

Perhaps you could tell him how you've been feeling and get his take on the situation. Maybe he'll say that one of the things that makes him comfortable with you is your tendency not to push!

But if these feelings persist, you might want to try a couple appointments of EMDR therapy. I found that helpful about my regrets over not having been as effective as I would have liked when my mother was diagnosed with lung cancer. She was fiercely independent and tended to push me away, so I was limited in what she would accept. But in the end, I realized that I had helped her as well as I could, given the limitations. That felt good. I was a sickly child and she always took good care of me.
Kim, thanks so much for your kind words! I want to make sure he feels loved and that he is not going through this alone. Of course, I am not the only close person in his life, but he will need all of us!

Plus, as some of you may have experienced, he had to do a lot of waiting while getting all the tests needed for a diagnosis. Now that he has one, it seems like everything needs to be done at once: get medical records sent to the ALS clinics he is interested in (we are near DC so fortunately there are several); make appointments; get all the records and paperwork together to apply for disability benefits; etc. So I can help him with calls, research etc.

And to all of you: thanks so much for your support and responses. This forum has already helped me tremendously. The first 48 hours after the diagnosis I was starting to get into self pity and resentment of people in my life who seemed to have a lot more luck than both me and my PALS. (He had already had several rough years recently around job and money stuff - and then to have it capped off with an ALS diagnosis! Good grief!)

But it is impossible to feel those things on this forum, where virtually everyone is going through something so incredibly difficult and yet gathering together to help one another. Very impressed and grateful.
Allie, you are so welcome. I would not have made it as a CALS without this place.
Have you found our resources section at the top of this forum?
This one might be helpful just now, for both of you.
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