Feeling less overwhelmed

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Jomeha

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CALS
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03/2020
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Early May I posted feeling overwhelmed and several of you kindly responded and helped me calm. This is a belated thank you and I figured I’d just let you know where we are now.

Today my PALS turns 54. The same age his mother was when her ALS journey ended. It’s hard not to think about that. We’ll spend the day with our 28, 25, and 20-year-old kids. Make the birthday dinner that he asked for and play Yahtzee. Not what we would have done pre-diagnosis and pre-COVID, but it will be a nice day anyway.

A couple of you had suggested we be open and upfront with our kids. I agree that’s important and we have been right from the beginning. They’re part of the daily care and planning and have sat through virtual appointments with us. I couldn’t do this without them, as Joe is 6’ 3” and 230 pounds while I’m 5’ 2”. I just can’t lift him or help him roll or move alone.

We worked with Dr. Harms at Columbia for genetic testing, which has all come back negative. The kids do struggle some with the uncertainty and fear of the unknown future. I’m really not sure whether the negative is better or worse than knowing where their father’s and grandmother's ALS comes from.

Joe continues to progress quickly so I feel like I’m forever playing catch up. We have a great team through both the RWJ ALS clinic and the local ALS association chapter. He’s getting his PEG in the next couple of weeks. His wheelchair has been ordered and thankfully the ALS chapter is giving us a loaner until it comes in since he’s only walking with a person supporting on each side. We just need the ramp in first, so fingers crossed that goes in this week. His Tobii has been ordered and hopefully won’t take too long. We have to ask him to repeat a lot of what he says and can often only get words through context. I think we were told we may be able to get a loaner so I’ll put following up on that on my to-do list. His Hoyer gets delivered tomorrow. We’ve got a shower chair ordered, recliner chair that lifts, commode, adjustable bed, inflating mattress pad, and working on condom catheters. This has certainly been a learning experience for all of us. Anything else you’d suggest so I’m ready would be appreciated.

I’ve only posted a couple of times but I do read posts and find the sense of community and willingness to help amazing. Everyone’s journey is different but one point in common is that no one can do it alone. Thank you all.
 

Nikki J

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10,459
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PALS
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Happy birthday Joe!

it sounds like you are doing a great job and happy you have your kids working with you.

Did Dr Harms recommend banking his DNA? If he does have an undiscovered mutation as opposed to a general genetic susceptibility and bad luck, it would allow testing later as more FALS mutations are found.

I think the Columbia study of ALS Families require an identified mutation for participation DIALS in Boston does not though they MIGHT need more affected relatives. However, if any of your children are interested I can give you a link. The purpose is to find biomarkers that manifest before disease.
 

Jomeha

Member
Joined
Apr 4, 2020
Messages
10
Reason
CALS
Diagnosis
03/2020
Country
US
State
NJ
City
Ringoes
Dr. Harms did talk about banking his blood and also having Joe sign a release that would allow Columbia to disclose any future information to family members. I have that on my "down the road" list but may just send an email so I know what needs to be done. Thanks for the reminder.

I do believe my kids would be interested in what Boston has going. The only study I saw through DIALS is for known markers so I think I just can't find it.
 

Nikki J

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Joined
Mar 22, 2012
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10,459
Reason
PALS
Diagnosis
04/2014
Country
US
State
MA
City
Boston
I was sure that you didn’t need an identified mutation as long as you were a first degree relative of an affected member of a FALS family but the current description looks like that may have changed ( or I misunderstood).
 
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