One day at a time

[JohnT]

Hello again to all. First post in newly diagnosed ex ‘Early Stages.’ 12-28 was dirty EMG ‘you have MND. Go wait in main waiting room while i type up report. Good luck.’ 12-29 was official ‘you have als’ diagnosis from main neurologist.
I have a follow-up slated for 1-11-22 at
ColumbiaDoctors clinic Tarrytown, NY. I guess there was certainty in my diagnosis so cutting to chase, going to clinic. Or is that where the 2nd diagnosis occurs and/or where i can learn if i am Sporadic or Familial ALS?
I am in a fog. 53 yes old! Had so much living to do. Graduations, weddings, grandchildren, retirement biking/hiking/skiing/tennis. Four fabulous kids, 25, 22, 20, 16, wonderful wife. Pretty lucky guy.
How did this happen to me? Was i concussed playing sports? I had a bad fall two years ago and amazingly didn’t break any bones but was very shaken up. Did that trigger something? I suppose i will get information on 11th, but i am not as strong as the beautiful, amazing people here. That is for sure. I cannot and will not put my loved ones, particularly my wife, through the pain of watching me slowly die. They have their own lives to live. I have already started writing a diary and letters to my children and wife. That at least has given me a distraction these last six mind numbing days. Telling kids on 9th. Please God, give me strength to do that. Ty for listening and imparting wisdom, guidance, understanding. Srry if some of this repeats from ‘Early Stages.’

 

[Nikki J]

I trust you are seeing Dr Shneider or Dr Lee They are appropriate for a second opinion and you can ask them for genetic testing. No one in your family has had ALS or a related neurological disease? You haven’t mentioned it. About 10 percent of ALS is FALS meaning people like me with multiple relatives affected. Of the other 90 percent maybe 6-7 percent of them turn out to have an autosomal dominant genetic mutation. This means that about 93 % of people with no family history do not have an identifiable genetic cause. A test is the only way they can answer this so you are not going to get a definite answer that day. Clinically FALS and SALS look the same

 

[JohnT]

Ty as always Nikki.

 

[affected]

So sorry to welcome you in John - it is a huge shock, especially so young and you will move through many emotions over the next month or two as both you and your family come to terms with this.
We will walk along with you, and we can support you wife as well.

 

[JohnT]

Ty for the kindness and understanding. My wife (who is amazing) said, ‘one day at a time.’ It is difficult to just ‘stay in the present’ because so much of life is forward looking, planning, forecasting. It just is.
I keep saying to myself: ‘stop looking at this forum’ (even though its been cathartic), but besides my wife, i have no outlet—— we are not telling anyone until the kids know.
I know my wife is going to have to deal with much of the exterior messaging (with friends, outside family etc). And she’ll have to receive all the incoming too. I’d rather not have to deal with people’s pity and clichés even when it’s heartfelt.
Surprisingly as i focus inwardly, i am not bitter, i am just incredibly shocked and incredibly sad. Its a horrific break. So far i am making sure to apologize to my wife for times i was short with her or made life difficult due to disagreements. I can be stubborn and hard headed often.
I always told her i loved her but now it is said with a deeper level of meaning. Its been 27 great years of marriage but I promised her 50-60 years the day i asked her to marry me. I can’t help the feeling i have let down the people i love most and the coming storm that awaits only exasperates things.
Really, all i want, all i ask for is to say what i have to say to my family, enjoy a few more experiences with them, then ride into the sunset.
I guess i will get more insight- but societal pressure, laws, perceptions, fine print etc seemingly prevent that simple ask. Isn’t als unfair enough?

 

[lisa g]

John, so sorry to have to welcome you here. We've all been in that position getting the dreaded unwanted diagnosis. It's fresh for you so I'm sure your emotions are running high. Give it time to sink in and I promise you that you'll find it's not all despair. Yes it's hard sometimes realizing that something you used to do with ease now is difficult to do. We adapt and trudge on. Don't let that cloud over your head rule you. Enjoy your life with your family. We're all here to help you with changes and questions that you have.

 

[Nikki J]

In order to help prepare for your appointment read this Resource - Second opinions and first clinic visits

also besides asking for genetic testing ask about trials and studies. Columbia is research oriented so they should be happy to talk about this. Observational studies help advance the science and will lead to quicker answers. There is also benefit to you as you would interact with the clinic staff more frequently

 

[JohnT]

I really appreciate the second opinion/first clinic guide Nikki. I am amazed you know the Drs at Tarrytown, NY (given you are in MA - where i am actually from originally). You are quite clearly an incredible, resourceful, kind person, as are many others here.
I will see what appointment on the 11th brings, but in all honesty, all i care about is that my children do not suffer this fate, so genetic test is my priority. From there we’ll see, but i do not want my wife or children to bear any undo weight. That should be up to me, shouldn’t it?
I am unaware of any family history with ALS, though my mother had myriad of health issues including lupus and rheumatoid arthritis which negated her quality of life in her 70s-80s.
Both parents are passed away (2010 & 2014) but made it to later 80’s (i was a later in life surprise). Is there correlation btwn those types of diseases and MND? My grandparents were Irish immigrants. Mother’s side died when i was a small child and father’s died before i was born. To my knowledge, no als, but maybe died before onset?
I am meeting with my sophomore in high school son’s principal tomorrow to tell him and so his teachers and school psychiatrist can be standing at the ready. That will be the first time i am saying out loud to a person other than my wife. It will be hard but has to be done before breaking it to him and rest of kids over weekend. My 20 yr old goes back to college on 15th so need to give him time to absorb before he returns for spring semester. I am crafting an email to one of the Deans there so they are able to proactively support him.
My 25 and 22 yr olds are both out of college and working. 25 is out on her own and 22 am home. I am dreading telling them like nothing i could possibly even imagine… but it all too real.
Srry for vomiting my feelings here and ty for reading/listening. God bless all who are here.

 

[Nikki J]

You can certainly ask for ( and probably get) genetic testing at your appointment. They may want you to see a genetic counselor which they have in NYC. However you could probably get a virtual visit with her. Sometimes they order C9orf72 testing with reflex. This means they test c9 first and if negative then test the rest. C9 is the most common FAlS mutation in European ancestry populations and the rate in so called sporadic cases is as I said before around 7 %

i understand you are worried about your kids but other than testing there is nothing to be done at this point so I think you should try to get more out of the appointment thn diagnosis confirmation and testing. I understand about not wanting to burden family but I am sure they want you to stick around and I would think you would too as long as you are reasonably functional. To that end I would discuss treatment options and trials

are you seeing Dr Shneider or Lee?

 

[Not Da Rock]

My wife was diagnosed March 2021. The disease has taken her ability to walk and talk. I would recommend getting a device that lets you save words and phrases in your own voice. She is using a Tobii Dynavox I13 to communicate with now. She is still connected to the world through texting and Facebook. It also has other apps so she can control the TV, watch Netflix and YouTube. We also have friends stop by often to keep her in good spirits.
I agree with you, it was supposed to be Happily Ever After since her parents are 90+ and she just turned 60. We are all in God's hands and that brings me comfort.