Newly diagnosed loved one

[SN2024]

I have been exploring these forums, feeling both grateful and overwhelmed. My father was diagnosed with ALS last week by a specialized neurologist and has become the patient of an ALS clinic through this process. I attended the appointment with him, knowing this was the probable diagnosis based on his symptoms, how they have progressed, and that we have a family history of ALS (and fronto-temporal dementia which is considered to be connected to some forms of genetic ALS).

His condition has progressed exactly like so many descriptions of ALS diagnosis: foot drop that was considered a temporary nerve injury and then persisted and worsened, a medical professional suggesting it might not go away and may have been from a stroke, the onset of slurred and strained speech and swallowing issues - and then his diagnosis. We were not given the charts of nerve function like I have seen others posting, and I live several provinces away from where he does (in Canada) but will be flying to support him as best I can as often as I can. He has been single and living alone, and avoided sharing information about his physical struggles with his children - so the state of his progression only became known to us when he recently visited my uncle's for Easter dinner.

The appointment at which he was diagnosed was originally scheduled to address his foot drop, but given the progression of his symptoms and that they run an ALS clinic at the centre, the tests advanced to address the likelihood of ALS rapidly during the several hours we spent there. He was using a cane and a hiking stick to walk when he arrived at his appointment, the following day I got him a rollator/walker (my dad is stubbornly independent and will likely use this as long as he possibly can) and we went to a lab where he had his blood taken to test for genetic markers. He had an MRI just yesterday, and I'm doing my best to support him to begin accessing services that will help him with his needs as things progress. Currently he is relying a lot on his arms to support him moving around, was having falls using just a cane which had become insufficient, and his speech and swallowing are also affected. A year ago, July, we were hiking up a mountain together.

I am trying to be a bit vague about locations and things, as he is still somewhat in denial about his diagnosis and I want to respect his privacy. He has had mild signs of early onset dementia which my siblings and I have been keeping an eye on for a few years, and which he is also in denial of. It had been my plan to encourage him to seek medication that would slow the progression of dementia, before everything else came to light - because of our family history I believe that these symptoms will be monitored by his medical team now. He is still quite lucid, however, and empowering him to address his needs as someone who has always been very independent is one of my primary goals at this stage.

I am wondering if PALS, CALS, or family members (is there an acronym for this?) have also experienced denial of symptoms? At times he speaks about his current physical condition as though the only symptom is foot drop in one foot, but at this point he has foot drop on both sides and struggles to lift his knees, with one leg worse than the other. If you're a PALS, what kind of support from loved ones helped you accept the progression of your symptoms?

I am also wondering about management of pain and cramping in his legs, and swelling he is experiencing in his stronger leg - I think because he has been more mobile now that he has the rollator. He's taking magnesium and some other supplements, but I am wondering about solutions like alternating hot and cold packs, massage, and what might be the most effective over-the-counter painkillers.

I know we will receive more information from the ALS clinic he is now a patient of, but they seem swamped and promised additional information last week which he still has not received. I'd like to be able to offer support as we navigate medical system challenges, and to lessen his pain and keep his quality of life as high as it can be for each day moving forward. I provided him information and he contacted the ALS Society (Canadian, province-based), and he will be contacting a provincial healthcare program that supports access to mobility aids.

Not sure what else to say, grateful for advice and insights <3

 

[Nikki J]

Sorry to welcome you. Denial is not unusual and may be worse/ more persistent if he does have FTD. Your priorities should include getting his affairs in order, determining his wishes as far as interventions and figuring out his living situation. He will not be able to manage alone physically or mentally

Is your family mutation known? It sounds likely to be c9 but there are other mutations that cause ALS /FTD. If it isn’t genetic testing should be on your agenda. If it is not sod1 which rarely is implicated in FTD or FUS which is usually young onset there isn’t a great treatment option but that will change and knowing the mutation can help family with child planning and in the future hopefully prevention

 

[SN2024]

Hi Nikki, thanks for your reply.

He had blood taken for genetic testing just last week, the day after his diagnosis. Due to how long ago his aunt who had ALS passed away, we don't have any relevant information about the potential gene, and his mother was never given genetic testing for her FTD. We were informed that the genetic tests are done by one lab for the province he lives in and that they process them as a batch every few months when they have accumulated a certain number of samples - so we may be waiting a couple of months to receive information about this, depending on when his samples were received in that cycle.

I agree about the affairs and living situation - that's been one of the biggest stressors even leading up to this diagnosis. He currently lives in a fairly remote city - a 5 hour drive to the ALS clinic he is now a patient at and an 8 hour drive from my sister, who lives closest to him. She and I are working on convincing him to move to somewhere more accessible and where we will both able to be there for him more readily. I have a reliable income and no children, so I will likely be the relative traveling to support him most often, despite living the farthest away, for as long as he is pretty remotely based.

I suspect, because he does not have a family member who will be able to provide full time care, we will need to look into assisted living. He is still able to drive at the moment but that will likely not be possible in the very near future, particularly considering how quickly his symptoms are progressing. His next appointment with his ALS clinic is nearly 2 months from now, so I am anticipating traveling and transporting him to it or arranging for someone else to transport him and meeting him there. Having a second person/ advocate at his appointments is a priority, because of the FTD symptoms, to help relay information he forgets on the spot and to help retain the information they are sharing at the clinic.

Because the clinic has been less communicative than they lead us to expect, we are anxiously awaiting information about medications and other supports. He told me has been calling them each morning this week.

 

[SN2024]

I am also looking up C9, based on your mention. I see in your profile that it is what you and your family have faced. As tragic as it seems to be to say, 'luckily' of his 3 children only one of us has ever had any intention to have our own kids and build a family. His siblings, myself, and my two sisters will definitely be getting tested as soon as we receive results from his genetic testing.

I've been telling folks that the potential that I have the gene is the least urgent issue at the moment and trying not to think too hard about it, since addressing his immediate needs feels much more necessary at this time.

 

[Nikki J]

Give yourselves time to consider genetic testing. It isn’t right for everyone and there are implications for things like life insurance and disability insurance i chose to test presymptomatically but even though I knew we were FALS we didn’t know our mutation until 2012 when testing became available and my sister was diagnosed I still waited over six months to be sure it was the right thing.

When you get results are there also descendants of your great aunt who need to know?

 

[ShiftKicker]

Hi, and welcome to the forum. I am sorry to welcome you here, but really happy you've found us.

I'm in BC, so my experience may be different than your dad's, depending on where he is:

I have never received any EMG results, charts, etc- only what the diagnosing neuro summarized in their report to my family doctor. So your dad's experience is not as unusual as it seems. The Canadian medical system is different than the US model, so lots of info remains "in-house" unless you directly request reports.

Your dad's family doctor can provide interim pain relief to carry him over til the clinic provides more direct care. It may be possible for your dad's primary doctor to contact the clinic directly and they might get a quicker reply than your dad having to manage his own care. It may be that getting to the clinic is simply too burdensome over time and it is entirely reasonable for your dad to build his own "care team" closer to home. A family doctor, physiotherapist, occupational therapist, etc can all be part of it, with little need to travel to the ALS clinic itself. Some people do opt to not go to official ALS clinics at all- it's not mandatory- and use medical care providers they are more familiar with.

There is usually a social worker attached to Provincial ALS clinics, and they can be an excellent resource for future planning, advocacy, finding equipment and financial support for things. Speaking directly to them to outline what your concerns are regarding your dad's care now and in the future might provide you with a better sense of direction.

~F

 

[SN2024]

Thanks for this advise Nikki - and yes, definitely, some of my dad's cousins will need to know. He is the oldest of his generation in our family, so I can definitely imagine this will be necessary information for others, too.

 

[SN2024]

This is really helpful info F, thank you! He is based in Alberta and has a family doctor but his doctor is just miserably useless, unfortunately. I blame conservative cuts to health care. It took a health phone service advising he go to the hospital and the doctor at the hospital referring him to the Kace clinic in Edmonton to get him the appointment that lead to his diagnosis. He said his doctor just asks him "well what do you want me to do?" I wish I could be at an appointment like that and give that man a piece of my mind. I'm half joking...

My sister who lives nearest him is in BC, so if we're able to convince him to move to somewhere closer to family, we may have to deal with switching provincial services which is daunting, though I suggested that a location in Alberta that's more accessible and closer to family would be a great start.

It turned out the pain and swelling was blood clots in his leg, he went to the hospital yesterday, again on the advice of a health phone service. At least those guys are making sure he's taken care of. The risk of blood clots with his severely decreased mobility is a complication that definitely hadn't occurred to any of us yet.

This has been a wild ride for just 9 days post DX.

 

[KimT]

Hi,

You've already received some great information. I'd like to mention something about pain. Having a lift chair (riser) has helped me tremendously with all types of pain from ALS and other medical conditions I have. The bidet toilet seat was also a game changer for me as constipation can come with a inactivity or reduced activity.

I was tested by Mayo Clinic and had to see a geneticist. I was hoping for SOD1 since it has a treatment. Nothing came up but I'm very glad I tested. I have a high school friend who goes to Mass General and they tested everyone (she had already been dx for three years) and she found she had SOD1. Even though I didn't have children, I was glad to get tested.

As far as denial, everyone is different and FTD presents special challenges. Just make sure all directives are in order including medical surrogate.

So sorry about your father but glad you found this forum for support and information.

 

[UncleRobot]

Hi @KimT Do you know if the ALS Discord server is still active? The invite in the thread from last year has expired and there was no way to respond to that thread.

 

[KimT]

I don't know. I only post on one FB group that is private, this forum, and the UK forum.

 

[SN2024]

Hi Kim, thank you so much for sharing your insights, and thanks to everyone here.

Just sharing a little update since everyone was so kind and generous here. Getting the information to arrange for a variety of supports for my father has steadily progressed. It's fascinating how much administrative work it is, advocating for him and ensuring he has the right referrals arranged for assessments for different types of living supports. I believe the social worker with his ALS clinic would have worked on these arrangements eventually but, with his appointment to meet the full team at the clinic still 5 and a half weeks away, I've been doing my best to get things moving ahead of that. Still no word on meds, I think the clinic is waiting to see the genetic results.

Grateful for everyone's kind words and insights.