Familial ALS

[Leslie]

<p style=”text-align: left;”>My paternal grandfather died of limb onset ALS at age 68. My father, 85, has been showing signs of respiratory onset ALS this past year. Specifically, 40 lb weight loss within the year, widespread fasciculations, progressively weakening voice, overall muscle weakness but remains somewhat ambulatory (shuffles), choking incidents, cognitive impairment. He fell recently and when they did his blood gases his CO2 levels were extremely high but no sign of pulmonary disease with X-ray. Have appointment with ALS clinic at Columbia in NYC soon. Genetic testing to follow and we’ll go from there. I, myself, have since started having fasciculations and scared as this seems familial.</p>

[Meredith Reekers]

Hi Leslie,

I’ve heard great things about the ALS clinic at Colombia and their genetic counselor. I’m sure you’re probably already aware of the main known genetic errors that cause ALS (c9orf72 and SOD1) but they will explain them in depth at your appointment. If you need peer support from those of us who are carriers, please direct message me.

thanks and I hope all goes well,
Meredith

[Leslie]

<p style=”text-align: left;”>Thank you Meredith. If they find an als gene with my dad, I’m vacillating whether or not to get tested myself. I know new therapies are on the horizon but I have such anxiety and depression…I don’t know how I’d handle knowing. Yet, I’m miserable now anyway waiting for all the symptoms to start. I began having constant twitches when we realized my dad probably had it and that meant I could too. My husband is very supportive and is trying to keep me above water, but all I can think about is that I may have passed this to my kids. Ughhhh</p>

[Mark S]

So sorry Leslie,

I don’t think there is a correct answer here.  Often anxiety is positively effected with information, often not knowing is worse that knowing a negative thing.

Other times it is not helpful.

I never had anxiety but developed it over the past year. I am working on it with a therapist. I think I’m ok without medication but would absolutely get pharmaceutical treatment if it worsens.

In my view bodily symptoms for whatever reason are made worse by stress responses. It’s the way bodies work.

I hope you find good people, and talk with them.

 

[Leslie]

Mark…I tend to agree. I have a lot of thinking to do. I’m already on meds for the anxiety/depression. It’s comforting to know that I have this forum for support. Thank you?

[Janice]

MY MOTHER AND HER 3 BROTHERS HAD ALZHEIMERS.  I WAS DIAGNOSED WITH BULBAR ALS THIS SPRING.  MY HUSBAND BUD PASSED ON 10-10-2016 AND WE ATE A LOT OF SUGAR IN SWEETS AT OUR PICNICS AND MY SISTER’S FAMILY BIRTHDAYS AND CHRISTMAS GET TO-GETHERS.  I DO NOT EAT ICECREAM OR SWEETS NOW.  I PUREE ALL MY FOOD FOR THE TUBE FEEDING AND STILL CAN WALK AROUND, DO THE COOKING FOR BOTH MY SON AND ME. I’M GRATEFUL TO LIVE WITH MY SON AND TO WAKE UP EVERY DAY, THANK YOU LORD!

[Meredith Reekers]

Hi Janice,

I’m so sorry to hear that. But if you can, I would get tested for the c9orf72 error. It also causes frontal temporal dementia and sometimes mixed ALS and frontal temporal dementia. Dementia is poorly understood and people get wrongly categorized as Alzheimer’s all the time.

I encourage you to get tested because gene therapy is almost upon us and what has been accomplished in other genetic diseases (see the December 2020 episode of 60 minutes about Sickle Cell Anemia remission with gene therapy administered at NIH).

I hope this finds you having a good day,

Meredith

[Janice]

THANK YOU MEREDITH WITH THIS INFORMATION.  I’LL TALK WITH MY PCP AND THE ALS DOCTOR REGARDING THIS.  JAN

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