Doc said..your 18 yr old son has MMN or ALS - Page 11

sharonca · 01-04-2009, 11:21 AM

Valya - sometimes getting the news makes it easier to deal with. Now you have a dx and you can go forward and not waste time wondering. Do you get the SOD1 news this week? I know you are strong and can do what is necessary for you sweet son. I'll be praying for you and your family.

Sharonca

DeeMichelle · 01-04-2009, 01:34 PM

Valya
I can only echo what others have said I'm so very sorry and I do not know what to say. Though I'm sure you will do your best for Johnny you do always show such love and courage. I hope you do get good news re trials and find something that can fight this.
Really my thoughts are with you.
Dx

olly · 01-04-2009, 01:50 PM

sorry to hear the news about your son,i hope and pray the progression is slow and any drugs help.
your family are in my thoughts and prayers.

Willow · 01-04-2009, 06:35 PM

I echo everyone sentiments. My heart and prayers go out to you and your family.

thelma313 · 01-04-2009, 06:43 PM

I must also echo everyone else's sentiments. It is hugely unfair! Please tell Johnny so many many people are rooting for him and praying for a cure or a very very slow progression. Take good care of yourself. You and your family are in my thoughts.

jennibf · 01-04-2009, 07:01 PM

I am also very, very sorry to hear this and want to echo everyone else's sentiments and emphasize the fact that we are here for you and your family!!

jennifer

brendapals · 01-05-2009, 07:18 PM

Valya,
I am so sorry for this diagnosis also. I pray for a very slow progression, and please come to us for support, I know everyone on here will do all they can to help you thru everything.
hugs
brenda

Valya · 01-05-2009, 08:06 PM

I literally spent the entire day on the computer, looking up medical procedures for the ceftriaxone IV, spelling of medical terms, coordinating lab tests for liver function and listening again and agian to the audio from Johnny's Hopkins visit, so I could accurately type and email details of Johnny's appt to his various neurologists. It got to be too much....

Then I come to this site and see so many wonderful posts, filled with support and concern. I was so overwhelmed, I had to have a good cry which was interrupted by the arrival of the pizza man, haha. But seriously, I can't adaquately express how much I appreciate everyone's concern for Johnny. Thank you all sooo much.

------
Before the Hopkins appt, in the back of my mind, I thought that if anyone might possibly see something that had been missed by previous examinations, it would be Dr. Rothstein. I wasn't overly hopeful, tbh, but it was there. When he said he would officially DX him, the last piece of my heart broke off and it was very difficult to not fall apart. The practical side is, we need that official DX for insurance/ALSA/Medicare, etc. As horrible as it was, it was also a relief. The uncertainty is over, let's move on and fight, as several of you posted and that's exactly where we are mentally. Emotionally, we're still in shock. How did we get here from scooters, baseball and legos to Type 1 diabetes for Johnny's brother and now this? It's a cliche to say this but it can only be described as a horrible nightmare, from which I never seem to wake up, that's exactly what it feels like.

Sunday, Johnny and his dad replaced the alternator in the truck Johnny drives. He had a lot of trouble manipulating the pliers, various other tools and even getting up from under the truck was difficult. That depressed area on top of his left hand which was 2 inches in diameter, is now across all four of his knuckles. When did I post about that, a month or month in a half ago? Well, that's how fast it's progressed. I'll try to remember to post a pic where it's clearly seen. I have nothing to compare his progression to, only what I read, but thinking back to his coordination/strength during the summer, the disease has progressed quite quickly. In my non medical opinion, acknowledging that many factors effect progression, I honestly don't believe he is having a slow progression.

Johnny still doesn't want to talk about it so I'm going to 'arrange' a casual, non threating time he and I can just talk about it, now that we're back on a regular schedule. We did talk about the IV for the cethtriaxone today. He wants to see how it works before agreeing to it. That's one good thing about Tommy's Diabetes, we are comfortable with needles, injections, IVs. We had to be able to inject insulin for Tommy if necessary, I know we can handle the Ceft IV at home.

This has affected and strained every aspect of our family life, emotions, finances, relationships, time, and yet that's nothing compared to watching his body slowly die, one body part at a time. How does an 18 year old that's never had anything really bad ever happen to him except model airplane glue in his eye, deal with this? I jsut don't know how we will get through it. My husband and I are wrecks, the pain and sorrow jsut won't go away.

One thing about the exam at Hopkins, during the reflex check, Dr. Rothstein said that when he stimulated certain reflexes, other nerves would react. For instance, when he stimulated one of his fingers, his thumb would move. When he hit his knee with the hammer on the side of his leg, I think it was, his other leg would move. No other neuro has mentioned this and I thought it was very interesting. He said it was classic ALS and he said all Johnny's symptoms are exactly the same as his ALS patients who are 50 years old.

Sharonca/Bethu-I've been working on that video. So far, it looks good. My cousin helped me interview people over the weekend.

Sorry this is so long, I'm too emotional. If anyone is still reading again, saying thank you just doesn't seem adaquate. I am humbled and blessed by the caring and concern shown here for someone no one here knows.

rose · 01-05-2009, 08:55 PM

Val,

You can take as much of our time as you want.

Always.

Like you said, this has got to have such a far reaching impact on every part of your family life, and I'm really sorry for that too. Its one thing for me to look at it from the outside looking in, even though I'm a mom, and I have up close and personal experience with this disease, but I can't even imagine what its like to walk in your shoes.

Even though you may feel like Johnny is progressing fast (ish) right now, keep in mind that with almost everyone, there seems to be plateaus. ~ so just because you see a decline now, that does not mean it would keep up at the same rate, and that is even without the medications, etc that he is on, and may try.

One other thing, about the reflexes. I do not understand the significance of the "cross detector" either ! I believe that is what it is called, but I have it as well, in my legs and arms. I'm thinking my last neuro exam it was noted somewhere else too, but can't think where. These doctors have to be amazingly observant to even see this kind of thing,

Anyway, please know that you and your family are in my thoughts, and, just as I'm sure many others on here feel, I just wish I could do something for you. If nothing else, I'm here.

Take care, (((hugs)))

Valya · 01-05-2009, 09:23 PM

Rose, thank you for what you said on rate of decline. That's good, reassuring information and I'll keep that in mind. I was thinking of it as steady progression not variable.

Ahh, that reflex thing is called 'cross detector'? This was the first time we'd heard of it and, for some reason, I found it fascinating.

What can you do, you ask? Just listening is more than enough.

I'm not one to 'spill' but sometimes, as you know, it's comforting to know people are actually reading and care.

I posted a few pic from Wash DC. The pic of Johnny on the bed shows the depression across the knuckles in his left hand.

We're watching America's Funniest Home Videos now, laughing our heads off. It's good to laugh

makes it feel normal with my kids.

Connie · 01-05-2009, 09:38 PM

I do not mean to diminish the reality you are experiencing with your son.

We live in Granite Bay, Ca and are in the same general area you are. My husband's diagnosis was a long time coming (a year) partially because no one wants to tell another that he/she has ALS unless adequate testing has been done and all other disease has been ruled out.

Once we were told the Dx was ALS, we made an appointment at Forbes Norris Medical Center (part of California Pacific Medical Center) in San Francisco (415-600-3604) and saw Dr. Robert Miller who spent two hours evaluating my husband.

There is no fee requiremwnt if you have limited funds as we do and the support offered is tremendous. We are going back to meet with the interdisciplinary team next Monday.

As you, I am devastated by my husband's disease and am so grateful for any and all the support I receive.

My thoughts and prayers are with you and your family.

Connie

sharonca · 01-05-2009, 09:42 PM

Great pics Valya - Johnny is such a sweet looking boy. And the pic of his hand - yikes - I looked down at my hand and there it was - same look. Exactly. And I'm still typing about 70-80 words a minute - so there you go. Worst I have had with the shrinkage in my hand is lack of strength.

I had a four month stop in progression when I used Lithium. Who can say whether it was a placebo affect or real. But it was real to me. My hands and my mouth stopped having fascillations for four months. No cramping either in my hands. So I say I had four month of stoppage in progression in my hands and that is huge is ALS world. My legs continued to progress but what would they have been like if I hadn't taken Lithium. I know the current feeling is that Lithium is of no value but it was for me.

I know it is hard to do all the research and stay on top of things for your family and work and, and, and. But it helped keep my sanity that I was doing something positive for myself and others. I even tried to read all the research at als.net but really got lost in some of the threads.

I have not heard of the IV you are going to try but if they recommend it I'd do it. Hopefully Johnny will be up for it. Have you heard yet about the genetic testing?

I'll pray for sweet sleep for you and your family.

Sharonca

tmasters · 01-05-2009, 11:17 PM

Valya,

The doc at my ALS clinic discussed the ceftriaxone trial with me and warned me that because they have to leave the IV inserted it raises the risk of infection, potentially lethal blood clots, etc, etc.

The point is to make sure that if you go forward with this trial that it's in Johnny's best interest, not just the best interest of the medical community. I guess I wouldn't be saying this if Johnny were 68 instead of 18, but you have to realize they don't always know if what they're testing is safe. I'm not trying to scare you needlessly or be overly pessimistic. Just want you to do what's best for him. Of all the drugs they've ever tried to slow the progression of ALS only one has proven to be helpful (Rilutek), and marginally so. All of the others have not, and some have been harmful.

Ask all the tough questions of your doctor and find out what the purpose of the study is, who is to benefit, whether it's placebo controlled, etc. Sounds like you're already in the fast lane with your research.

Maybe I'm not being rational I got very upset when I read this I hate it when somebody so young gets ALS. It's just not right. I'll be praying for you and your family.

-Tom

Valya · 01-08-2009, 01:48 PM

Hello Connie.

No worries about diminishing our reality, btw

We were referred to UC Davis by our local docs, not a neuro. Of course, we didn't know anything about anything. If we had, we would have definately gone to Forbes Norris. Not that Johnny's care has been substandard at UC Davis but there is an ALSA representative at Forbes and they are certified by ALSA. We really like Dr. Maselli, the head of the ALS clinic at UC Davis and appreciated his referral to Dr. Rothstein at Johns Hopkins.

I'm so sorry to hear about your husband. This is an unbelieveably cruel disease. My thoughts and prayers are with you and your family also.

Valya

Valya · 01-08-2009, 01:56 PM

Sharonca,

Happy to hear the stop in progression when you were on Lithium, especially when, as you said, it's not thought to be that effective.

It is hard to research and do family stuff, etc. There is so much iinformation out there. However, it's starting to NOT look like a second language, which is nice

The Ceftrixone has to be administered daily, via a 30 min drip IV. There are a few vids on the internet for clarification. I'm still not sure we'll go that way. We haven't heard the results of any genetic testing. How can it possibly take so long.

Sleep? What's that?

Valya