Diagnosed yesterday. So many thoughts and feelings. Mother of two young ones.

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Sppspp10

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Joined
Oct 5, 2024
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16
Reason
PALS
Diagnosis
10/2024
Country
US
State
WA
Emg confirmed widespread issues.
Im 39. Two kids ages 4 and 7. Such a happy family and I never imagined this for us. It’s been a long week of going in and out of dissociation and hyper awareness. Disbelieving and back to planning. Trying to be present for the kids and husband but also feel so far away. I am not asking anything in particular, just wanted to share how devastated I am that my girls will not have their mother for very long.
We went out to a busy brunch restaurant today and it was surreal trying to eat knowing that I am fatally ill. It’s so odd and confusing.
 
I am sorry to hear. I hope you are pursuing a second opinion. Even if this was an als specialist you need one both for confirmation and a different perspective.

Genetic testing is urgent especially given your age. If not already happening call Monday to arrange.

Once those things are arranged give yourself time. It took me a couple of weeks to get over the panic feeling. It was probably quicker as I was a known carrier. Still a shock but different.

You don’t know what your progression will be. However there is life after diagnosis.
 
I am so sorry. My husband was diagnosed at age 40 and we have two young children too (now 5 and 10). I will be thinking positive thoughts for you and your family during the difficult time of the diagnosis. Actually, I think learning of the diagnosis was the hardest part (for me).

The forum is a great source of information and support. Best, Marie
 
Hi, Im so sorry about this.
I'm of similar age with a 4 year old kid, and diagnosed 4 months ago, I can tell you in my case the rollercoaster of emotions still continue, but you kind of get used to it, a little ( I still feel our family has been robbed several times each day). I don't want to overwhelm you but happy to keep in touch over here as there are not so many pals our age, with kids around the online or real life ALS spaces I have found.
 
@Nikki J,thank you for sharing your experiences in the first weeks after diagnosis. can you tell me more about why the genetic testing is especially relevant for my age?

@Marieb425 I am sorry to hear your situation.
@santimo I would love to stay in touch. Coming up for air after a few days in zero gravity but I agree that given our age and parenting circumstances, it would be so valuable to have that support
 
Nikki can probably summarize better, but genetic testing is very important because there is a medication for people who have SOD1. My PALS had no genetic mutations through testing (and no cases in his family) so his is sporadic.

However, there could be something that hadn’t been discovered yet that he does have a genetic link for. My husband’s neurologist also said they often are suspicious of a genetic link with younger PALS.

Again, I’m not always the best at summarizing these things and there’s probably other important reasons.
 
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As Marie says the urgency is because there is treatment for sod1. There is also a promising trial for fus. If you don’t have family history even though you are young you probably don’t have either but if you happened to early intervention is key. The risk of sod1 without family history is about 1-2%

There are a number of other mutations that currently do not have a targeted treatment. Finding those would not be actionable right now so not so urgent. There is a free testing program in the US right now and it is just a blood draw or sometimes even a cheek swab
 
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