Bulbar ALS at 31

[theothermnm]

I was diagnosed on September 25th after presenting with muscle cramping, twitching, tongue fasciculations, voice changes, weight loss, and muscle weakness/atrophy. No EMG/spinal tap, but my MRI shows an altered signal in my corticospinal tract which my neurologist said is rare, but a hallmark of ALS. I'm in shock. My twitches and cramps started last December within a month of recovering from Covid, and my weight loss and weakness kicked off after a five-year relationship ended in March of this year. I thought the twitches were Long Covid and the weakness was from stress and not eating, but could never find a good explanation for my voice changes.

I don't know what to do. I'm living with family but just signed a lease for a house so I can get my pets back from my ex and my parents can stay with me as the disease progresses. I have no idea what kind of furniture to buy now, or how long I'll make it before my parents' lives are ruined forever. I start treatment at Barrow Neurological Insititute's ALS center in early November. My insurance has denied coverage for Relyvrio/Radicava, but I've been on Riluzole since diagnosis. I worry that this delay in treatment will shave off time I could've had otherwise. My new social worker says the first couple of months are a shock for all PALS, but I was so looking forward to getting my own place, dating again, and returning to a normal life. That's all gone now, and I simply don't know how to handle this. I know this is normal after a heavy diagnosis but I guess I'm just looking for reassurance amongst people who know what this is like that I'll find a new normal. Thank you.

 

[lgelb]

Whoa. What reason was provided for not getting an EMG? The reason I ask that first is that normally certain EMG findings are part of the clinical criteria for diagnosis.

 

[theothermnm]

Yeah, that's what I thought too. I asked my doctor at my follow-up and he said with evidence of upper motor neuron and lower motor neuron damage paired with the hyperintensity in my corticospinal tract, there's nothing he thinks it could be BUT ALS and he thinks an EMG/spinal tap would be unnecessary stress on me (I have PTSD from another health issue). He trained under the director of Barrow's ALS clinic, the doctor I'll be seeing, and he believes the Barrow doctor will agree with his decision to not pursue further tests and begin treatment instead.

 

[lgelb]

I'm sorry about the diagnosis and the point in your life that it popped up in.

Of course, your parents' lives are never going to be the same, but never think that they will be "ruined forever." They love you and will want to support you in living your best life until you can't, just as one day they will do that for each other

Re furniture, you may want to take a look at a lift chair (some of us have been happy with the Golden line) that a Hoyer-style lift can be used with. And you could set up a flow that will work with a wheelchair so you don't have to rearrange everything later. Deep carpet, as you know, is a no. Your bedroom will need to accommodate a hospital bed.

Of course, you'll want to make sure the home is wheeler-friendly in terms of stairs and narrow hallways. If this house ticks all the boxes long-term, you may need to ask your new landlord about a possible shower renovation (which can increase the home's value). There are also over-the-top solutions for thresholds if that isn't possible. We were renters throughout my husband's ALS and couldn't make any mods, so ask me anything in those terms.

Often, your local ALSA chapter rep or clinic/agency OT can look at the home and make suggestions; there are also accessible design professionals that can help.

Re diagnosis, a spinal tap is usually not needed, but incorporating an EMG is as you know considered the gold standard. Not to minimize your past trauma, but did you look at a video and see what's actually involved in an EMG? Someone you trust could be with you in the room.

Apart from your own peace of mind (not to impute false hope, but, for example, young bulbar onset is comparatively rare), I would be worried that deferring the EMG indefinitely could be used to question a definitive diagnosis under standard criteria, which Social Security could use sooner or later to hold up your benefits. I am not saying this would happen but it could. Ironically, SSA does not mandate a positive EMG, but the lack of any results at all could be a red flag for an examiner.

The SSA manual, for instance, states, "The diagnosis of ALS is based on history, neurological findings consistent with the diagnosis of ALS and electrophysiological and neuroimaging testing to rule out other impairments that may cause similar signs and symptoms."

The only other thing I'll say is that ALS is not a disease where you want people to make decisions for you, even those kindly meant, if at all possible. Though it sounds like your life hasn't always been a bowl of cherries so far, you've already done a lot of work on your own behalf. So there can still be good times ahead, and the person who is most responsible for them will still be you.

 

[ChrisMc]

Our daughter with bulbar ALS passed away last April. She was walking with a walker for balance right up until a few days before she died and even then she could transfer onto the toilet or chair with some help. She used a wheelchair for longer distances, but not at home until the last few days. She slept in a recliner to help with breathing. Her arms and hands became weak so she could no longer wipe herself toward the end. She loved the bidet toilet attachment that we got which streamed warm water to clean her.

I was grateful she never became "locked in" as some have when they can no longer move at all and can't speak. She did not do voice banking because her voice was already slow and slurred when she was diagnosed. She was able to text until the last few days, too, but she had FTD which made it hard for her to think of what she wanted to say.

As her parents we were very grateful to be able to care for her during her ALS journey. It was a privilege and a blessing for us that we will always treasure. We miss her very much, but our lives were not ruined and we were so glad to have been with her when she passed away. It was a sacred time.

 

[Buglaw]

I’m young with bulbar onset too (got it at 35). My mom moved in with me, my wife and our two daughters. I also had the same mri findings as you. I had one clean emg, and one emg with abnormalities, but it did not show any real LMN damage. I was also diagnosed based mostly on a clinical exam.

the one thing I will say is good about having ALS when your young is there are a lot more people to help you. I have my parents, my wife, my wifes Family helps out sometimes, and we also have a lot of younger friends who are able to help out and aren’t dealing with their own health problems.

I echo the above advice, that I would get an emg for peace of mind. I still find myself fantasizing about a misdiagnosis and I dont think I couldve accepted the diagnosis without an emg.

Please reach out if you want to chat about it. I know I had a lot of feelings about not only getting ALS, but getting it at a young age. It felt profoundly unfair that I wouldn’t get to see the things in life that I otherwise would have if I got als at a more normal age. Frequently this bothers me more than having gotten ALS at all.