Husband given prelim diagnosis

[diagnosed2016]

My husband was told yesterday that he has motor neuron disease based on symptoms (drop foot twitching) and the neurologist has referred him to an als center for a confirmation. 4 out of 6 family members on his fathers side died of ALS. It doesn't look hopeful. He is in his early 40s and we have two young children under 4. We are devastated. I keep reading to live in the moment and not jump to the worst but I have no idea how we even proceed from here. I literally cannot imagine how to cope with the variables of this disease and how to go about not crying every moment of every day.

 

[Nikki J]

I am sorry. Of course he needs an EMG and tests to rule out other things but the FALS aspect makes it seem likely. Do you know the family genetic defect? If you do not or if you know it is SOD1 and his status is unknown get gene tested ASAP. SOD1 gene blocking trial is enrolling now. It is a trial not a proven therapy but if I were SOD1 I would be begging to get in. 40s is a common onset age for sod1 too. There are of course other FALS genes SOD1 is only about 20 % of FALS. C9 ( mine) is most common and they are working on gene blocking therapy

Please read the sticky on second opinions which will help you prepare for your appointment. There is life even after diagnosis. If he is diagnosed there is a lot of information here and lots of helpful people

 

[diagnosed2016]

He had an EMD already. I don't know the specific gene but we are calling a Dr on Monday who has worked on his family members after they donated their bodies upon death. Apparently their particular gene may be mutated so I'm not sure how that will affect testing? We just got this news yesterday afternoon so we are just in shock at how daunting it is

 

[diagnosed2016]

Emg I mean

 

[lgelb]

Getting the most out of every day is what these forums are for, though I am sorry for what he, you and his family have been through and face. Take time after the diagnostic confirmation to process and you will find your own best way as a couple with the kids to cope with changes. We are always here to help, and the stickies and search box are good tools as well. We never stop crying entirely, but you will find a balance day by day.

Best,
Laurie

 

[Nikki J]

It is good you have a place where you can hopefully find out the gene mutation and it sounds as if it is one of identified ones which is good news since there is a possibility of targeted therapy. All of us with Identified FALS genes have mutations from normal. Testing should not be a problem unless it is one of the very recently identified ones that do not yet have a commercial test. If it is not SOD1 there probably is not a reason to rush for testing. C9 is probably next for a trial but from what I hear it won't be this year.

 

[diagnosed2016]

Thanks Nikki that's good information to know. His father died 30 yrs ago so it can't be one of the recently found mutations

 

[affected]

So sorry to welcome you to our family

It is more than reasonable that you are crying and in despair at this point. I well remember! It takes 1 - 2 months for the real shock to lift and you can start to look about and realise that you are dealing with the diagnosis. I'm not saying you will feel fine, but this initial shock stage is very overwhelming. I'm glad you have joined here straight up so that you can access all the information that has been built up here over many years, and the support that is here right now. xx

 

[Green Queen]

My heart just breaks for you all.
I can't think what to say.
Whatever words in your heart you need to hear, those are the words I'm searching for.

 

[diagnosed2016]

We are still in limbo- we have an appt at an ALS clinic in a couple weeks. If an EMG shows chronic and active denervation, are there other things it can be? I haven't seen the actual report and I think the Neuro is not totally forthcoming with information, also worry that because of the family history they might be ignoring other options. We are trying to be hopeful- he doesn't have a typical drop foot, more generalized weakness mostly on stairs, and it all started with a fall at work. MRI shows damage but according to Neuro not bad enough to cause the issues. Haven't done genetic testing yet- but do know what gene is in his family (very rare- so no trials to participate in),and have the kit to send off the blood work all ready (but don't want to test yet until we get more definitive answers-cant unring that bell once we know if he has the gene or not). I 'm trying not to panic, but the more I read the worse I feel about this appt.

 

[faithandlove]

I'm so sorry your family is going through this. They say that God does not give us more than we can handle, but sometimes it is just too much, and, right now, you are overwhelmed.

I was recently diagnosed, and feel very lucky to have found this site with these warm, kind people. They are right about the stickies. You will get very useful information there.

Take care of yourself and give your family lots of hugs and kisses.

 

[scaredwifetx]

My heart also breaks for you and your family. Tille said so perfectly what I would have said. The first couple of months are filled with so many emotions that do seem unbearable The appointment at the clinic will be tough as I remember all to well. I also remember thinking that I would not be able to make it through. We are adjusting and we still have our bad moments and when we do, we find a answer and keep going. The amazig people here come together to support and guide each other.

My thoughts and prayers your family.

 

[Scotiaspirit]

scaredwifetx, so sorry to hear what you are going through. The emotions you are feeling is pretty much similar to what we went through and pretty much everyone's family with ALS. The shock takes time to absorb, and speaking for us, it is like resetting the clock of life, it becomes a new norm and life is continuously adjusted to live in the new norm. It is a heartbreaking disease for both we who are PALS and the caregivers CALS. Our doctor told us on the worst days, break it down and get through one hour at a time, and then these hours become a day, week, etc.
Take care of yourselves and our thoughts are with you.

 

[Nuts]

I am so sorry to welcome you to this wonderful group. I wish that I could tell you this doesn't sound like ALS, but foot drop is only an early symptom if the disease starts in a foot/ankle. There are as many variations as there are PALS, and your hsuband's family history certainly makes his diagnosis probably. We never stop hoping, however. If it is confirmed, it is true that there is life after diagnosis, and that's what you should focus on. Get the truth, put plans in place, get equipment on hand, made necessary modifications, and then live every day to it's fullest. Travel if you can, love, laugh, make as many memories as possible. Treat every day as if it is a gift.

A good friend's sister died unexpectantly of a heart attack about the same time that my husband was diagnosed. I keep reminding myself that I could have lost him then, suddenly, without a chance to prepare or say goodby. Each day for me is a gift. I don't have young children to care for. Instead I'm missing out on a lot of time with my grandchildren, but that's much easier.

You WILL find a way through because you love him and that's all there is for us to do. People call us brave, but we are simply not given a choice. We will be here for you, and I'm sure there is a lot of experience in your husband's family. Hopefully there is support also. In any case, you have a wealth of information and support here..

Big hugs,
Becky
Queen of Everything. (Ask us about our crowns!!!)

 

[affected]

My perspective, so I say this without saying any other perspective is wrong, was always that there are always choices.

I chose, deliberately and consciously, every single day, to stay and look after Chris.

Not all CALS stay, incredible as it seems.

For me it was a huge thing to make this choice daily - I was not forced into the situation of being his CALS, I chose to honour my marriage vows every day and in sickness, until death did us part.

Others may well find it helps them to feel there is no choice but to do what they do. I say whatever works to help you cope and be a better CALS is good xxx