What an amazing support system!!

Status
Not open for further replies.

Jennyjen

New member
Joined
Jul 16, 2021
Messages
5
Reason
Loved one DX
Diagnosis
04/2021
Country
CA
Good morning,

I am new here and was just looking for some help. Sorry for the long post!

My Mom is 60 and was diagnosed with respiratory onset ALS on April 28/21. She has been struggling with breathing issues for the past year. Our GP and her respirologist passed it off as COPD. She’s been healthy her entire life. I don’t even remember her having so much as the flu.

Life has changed drastically for our entire family. ALS was literally our worst fear, obviously. 2 of my great aunts on my moms side both died of ALS in their 70’s. We told the doctors this and no one would listen to us. With that being said, we are having genetic testing done to determine whether or not my mom carries the SOD1 gene mutation. After 2 hospital admissions in the span of 6 weeks and 45 days in hospital, a diagnosis was given to her in a hospital room, ALONE! Thank you COVID!

She is on a full time feeding tube. She can tolerate small amounts of food but she gets all of her nutrients from her tube. She uses her bipap approx 15 hours per day and is tolerating that well. She also has a cough assist and suction. My dad is her main caregiver. He lives with her so he does most of the physical work. I have been going daily to assist my mom with emotional support and to give my dad some relief. I am thankful that I live close enough I am able to do this.

I’m feeling alone and alienated and frustrated and hopeless. This forum was recommended by our contact with the ALS Society and I am so glad I found this community. Up until now, I have been trying to do my own research and have a million questions. I’ve found reading through the posts on here to be very helpful. For the first time since this diagnosis, I don’t feel alone. Thank you for taking the time to read my story.
 

Nikki J

Moderator
Joined
Mar 22, 2012
Messages
10,696
Reason
PALS
Diagnosis
04/2014
Country
US
State
MA
City
Boston
I am very sorry. I expect the sod1 test is so if she has it she can apply for expanded access to tofersen? Odd to say but I hope that is your answer. I also hope if it isn’t she gets tested for other mutations. It is important for your family to know going forward as preventative treatments are on the horizon and family planning help exists now.

your parents are lucky to have you and it sounds like you all are managing as well as possible Please ask any questions and also the search function can be helpful too
 

Mary2

Active member
Joined
May 1, 2021
Messages
83
Reason
CALS
Diagnosis
04/2021
Country
US
State
GA
Hi Jennyjen, So glad you found this forum as the people here are wonderful and well informed. You and your Dad sound like you are doing a great job taking care of your Mom! I have had many questions about my PALS care and they have been answered well through this forum. You are certainly not alone...anything you want to ask or say will be listened to here.
 

affected

Guru status reached
Joined
Apr 26, 2013
Messages
13,487
Reason
Lost a loved one
Diagnosis
05/2013
Country
OZ
State
AU
City
lala land
so sorry to welcome you here, but I'm glad you have our support now
 

jonico

Distinguished member
Forum Supporter
Joined
Feb 21, 2017
Messages
152
Reason
Lost a loved one
Diagnosis
12/2014
Country
US
State
NY
City
Central
Hi Jenny,

So sorry about your Mom! I very much feel for your you and your Dad. You both clearly provide "an amazing support system" for your Mom... you have landed in the right place to find additional support from kind folks here who have been, or currently are walking the same walk as you guys. Hope you check in often during your journey, and I hope you all find beauty in the midst of the trial...Jon
 

Jennyjen

New member
Joined
Jul 16, 2021
Messages
5
Reason
Loved one DX
Diagnosis
04/2021
Country
CA
Thank you for the information. I’ll be sure to ask her team at her next clinic appointment exactly what the genetic testing involves.
Thank you every one for the warm welcome. I plan to spend a lot of time on here educating myself and learning about other’s journeys
 
Status
Not open for further replies.
Top