Checking in (my PALS was diagnosed about 6 weeks ago)

[Allie1987]

I posted for the first time about 6 weeks ago, when my best friend received his diagnosis. He is a central person in my life and like family to me (I am single), so this has been pretty devastating news for me as well as for him.

To recap, his symptoms started about 2 1/2 years ago when he started having problems with his right hand. Things were fairly stable for a while, until about a year ago when he started having problems with his right leg as well.

In the last year the progression has been more rapid. He is now completely unable to use his right arm, and is having difficulty walking. He can do it, but it is very fatiguing so he can’t go far. The muscle wasting has also been significant - he has lost 50 pounds, with no change to waist size.

He has his first appointment at the UVA ALS Center today to confirm his diagnosis and hopefully get him started on a path to some kind of treatment. Oddly, the neurologist he first saw is still saying he doesn’t think he has ALS. It’s clear based on the symptoms and EMG (positive in all four limbs) that PALS has a motor neuron disease, but the neurologist says he doesn’t think it is ALS because he has no upper neuron involvement and because “if it were ALS, after 2 1/2 years he would have progressed further.” But - the neurologist has offered no alternative diagnoses. At first he said he thought it was SMA, but genetic testing ruled that out - and genetic testing also revealed PALS had the C9 gene. The other neurologist he saw does think it is ALS.

Of course, we would love it to not be ALS, but since the neurologist can offer no alternative diagnoses that fit the symptom pattern, EMG results, and genetic testing, we are not hopeful.

My PALS has been very strong in the face of this diagnose and very action-oriented - focused on getting into UVA, getting SSDI benefits, etc. I’ve been helping him with all that, but also trying to make myself available if he wants to talk about his feelings about all this. Like many guys, he tends to shy away from that kind of discussion, but he did open up to me a little a few days ago. He talked about anxiety about progression — eg, monitoring his body for signs that something new might be happening like bulbar symptoms — and the feeling that 20 years of his life is being stolen away (he is 61). It is painful to watch him go through this.

In addition to being there for him emotionally, another way I thought I might assist is helping him get a portable electric scooter (assuming he is open to it). His difficulty walking really limits what we can do together, and I thought this might allow him to have more fun outings, especially since spring is coming up. A power wheelchair and van may be needed sometime down the line, but he is not quite there yet.

So, just wanted to check in on where we are. Any thoughts you have would be most welcome!

 

[Nikki J]

Good luck with the appointment.

do not use insurance for the scooter. Look for one gently used. Insurance pays for one mobility device every 5 years. That needs to be the pwc. I would try to start the pwc approval process now if the clinic thinks he can qualify or as soon as possible. It takes time to get a chair and you don’t want to wait until he needs one

as a side note if he has children or siblings at risk there are support groups on fb and genetic studies for potential carriers

 

[Allie1987]

That is very helpful info about one mobility device every 5 years - thanks! I will talk to him about the pwc. He currently lives in a second story apartment with no elevator so moving will become an issue as well.

I was thinking about gifting him the electric scooter as he does not have much money, and I’m sure he will need every penny for what is ahead. A used one is a good idea.

Yes, he has three adult children. No biological siblings. He is waiting until UVA confirms the diagnosis to tell the kids.

 

[Nikki J]

When they are ready they should join the FALS fb group if they want support / information. I will pm the group information to you.

genetic testing for asymptomatic carriers is complicated and takes a lot of thought. Carrier studies will test at risk people if they sign up for longitudinal visits. If they are considering pregnancy there are options to avoid passing on a mutation.

This will be a big shock as it is unexpected but there are supports and there is a lot of hope for carriers to have prevention / cure in the future

 

[Allie1987]

Thanks so much! All three children are in their 20s and one just got married, and I believe the newly-married couple wants children. So yes, a lot to think about.

 

[KimT]

You are a great person for being so supportive and caring. He's fortunate to have you.

I agree with Nikki to get things moving on the PWC. It'll probably take 3-6 months. I'd also start working on a proper living situation.

Both Nikki and I are lower motor dominant ALS. I have very few upper signs, even now. I always had brisk reflexes but they are still within normal limits and I have no spasticity. I do have lots of cramps and pain, along with atrophy.

If you can find a small mobility scooter that will give him freedom while waiting for PWC, that would be awesome. I see a lot of them on ebay, Craig's list or even in the newspaper.

He may need help with insurance. Once he gets SSDI he will automatically be enrolled in Medicare. Then he will need to find a supplement to cover the part of durable medical equipment that isn't covered by Medicare (20%). This can get tricky and I just had a PALS friend in VA go through finding a supplement (Medigap) policy. Be careful of Medicare Advantage Plans. You really need to look at them carefully. I've found that contacting a Medicare broker online can save a lot of work. It's no cost to PALS and they will figure out what plan best fits his budget and needs.

 

[Allie1987]

That is super helpful advice, Kim. Thanks so much!

 

[lgelb]

Just a Virginia-specific note -- unlike some states, everyone with Medicare has access to a Medicare Advantage regional PPO plan, and there are no premium limits for guaranteed-issue Medigap premiums for those under 65, meaning they could be pricey. So I would check out all the options of each type in your county at medicare.gov, including entering his current and future rx based on the discussion with UVA. Navigators not on commission with any plan can be helpful -- available free through VICAP.

ALS does not require UMN signs for a diagnosis, and some progress more slowly than others, as you know. Presuming UVA confirms the diagnosis, if he did not have 50 lb to lose to keep a high-normal BMI, I would focus pretty quickly on a high-calorie blended diet he can tolerate or a feeding tube. Weight is one thing, but ALS affects metabolism and compromised nutrition can speed progression.

 

[Nikki J]

You said he doesn’t have much money. See if he might possibly qualify for medicaid. if he gets a decent ssdi payment he probably won’t but worth looking into if he is really poor.
how did UVA go?

 

[Andvari]

Is he by chance a veteran of the US armed services? I ask because as a veteran, there are a lot of benefits that could be used.

 

[Allie1987]

Thanks so much to all for your replies, and my apologies for my delay in replying in turn - I was traveling. So, to respond:

=He is not a veteran unfortunately
—He is on Medicaid right now - that is how he is getting his health care. He is in the process of applying for SSDI, and when he gets that he will of course have Medicare, though he may lose his access to Medicaid at that point.

His UVA visit went well. Since the other neurologist kept saying “You don’t have ALS,” I think I had a (very) slim hope that they would say he didn’t have it. Unfortunately, they confirmed the diagnosis. In fact, they said “What took you so long?” - as they were surprised he had not had a diagnosis much sooner.

In response to the concern raised above about weight loss - they were concerned about that as well and will have him see a nutritionist. They also put him on riluzole and relyvrio. He already has the rilozole but the relyvrio is still in process and may take a while.

 

[KimT]

Is his swallowing and breathing okay? If so, getting enough healthy calories in him should be easy. It's also important. I have a morning shake that includes an avocado, raw cocoa, allulose (sugar substitute that is safe and natural), a little olive oil, full fat Greek yogurt (as long as he isn't sensitive to dairy and as long as it doesn't constipate him), ground flax meal, walnuts, inulin (prebiotic fiber) blueberries, raspberries, and walnut milk. It is about 1,000 calories. If I need more, I'll throw in an Aloha protein bar for another 260 calories. It tastes like a thick chocolate milkshake.
If he's eating three meals a day, he might want to try some of my "ice cream." I use full fat, cultured sour cream and raspberries. I've given it to friends and they love it.

I would stay away from Boost and other drinks with unhealthy oils. Ka'Chava is a good protein powder to add. I also use Kate Farms but not as a regular meal. It is fairly high in carbs but it's a good alternative for a healthy dessert.

I hope he has a good nutritionist. We had one at an ALSA meeting and she advised PALS to eat cake and ice cream. While an occasional dessert is certainly okay, I would eat healthy to gain weight slowly instead of anything and everything. I learned from my mistake when Mayo told me to gain 30 pounds and I panicked because it was always hard for me to keep on weight. Let's just say they recognized me at the ice cream stand.

 

[IonaB]

Allie1987, what a wonderful friend you are! I have many good friends, but one in particular has been my rock. I'm glad your PALS has you in his life. I'm also struggling with weight loss. A year ago when I started losing weight, I was delighted but it did begin to spook me. I've started follow KimT's advice and educating friends that the skinny-ness is a symptom of the disease and that I am addressing it. KimT's post above motivated me to go make a breakfast shake with what's in the house. I had half-and-half in the fridge--why not?! KimT's post also reminded me that I used to love strawberries dipped in sour cream and brown sugar. Looking forward to strawberry season. Also, two friends have brought me home-baked banana bread. Right now, eating enough while I still can is something I work on every day.

I just got a call from my sister-in-law. My husband told her yesterday. Last year she was diagnosed (age 60) with early onset Alzheimer's. We had a good cry.

 

[ReneKies]

Allie, deep respect for your help that gives you the best friend. I also have lower motor dominant ALS, which is called PSMA in the Netherlands. I no longer have reflexes, but I also have no spasticity; in the Netherlands the lack of spasticity is the only real difference with ALS. PSMA is progressively also usually a little slower.

As an example; Year 1 my right hand and wrist fell out. Year 2 left the same. Year 3, both arms fell out. Year 4 the pectoral muscles and some back muscles. Year 5 (just passed) muscle strength loss right leg (recently a wheelchair).

I once understood from my Neurologist that PSMA is not used as a diagnosis in the USA. Fortunately, it is called ' lower motor dominant ALS', otherwise it seems to me that some are unlucky, and do not get a diagnosis?

 

[krnNdug]

I was heavy when I got diagnosed. I had been losing weight trying to get back to my playing weight when I got diagnosed. My ALS doc wants me to keep my weight up as best I can. I call it my prescription for dessert. The problem with cake and ice cream is the possibility of diabetes. My latest test results and I am pre-diabetic. I do not want to add that my list of maladies.

I lived in each of the DCarea locales, Bethesda for high school, DC (The Watergate) after college and Arlington (Ballston) & Alexandria (Masonic Washington Monument) when I was married. As has been suggested, start the PWC now. Try both Quantum and Permobil. They are both great chairs. Permobil has different models, while Quantum has a mix and match base with seating.

It sounds like he does have income issues. Either he could contact Team Gleason, or you could if you felt like it. They help with many things. Apply as soon as you can at Team Gleason. Plus, you could watch the movie about I’m on Prime.

We had a Boy Scout group build us ramps for the front and back doors. It was for an Eagle Scout outreach badge he needed to complete. That might be a place for help as well.