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Valya

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Hello everyone. This is my first posting and first, I’d like to say special thanks to Al for taking care of the activation which I somehow managed to goof up.

I’ve tried to post this I don’t know how many times, only to exit out. Putting this all into words and ‘out there’ makes it a bit too real and more difficult that I had anticipated for some reason.

Our oldest son Johnny is 18. When he was 14, he discovered the guitar and played incessantly, voraciously learning new chords/scales/improvisations, always going for the fastest, most complicated finger patterns. He blew though two instructors and was last studying with an excellent classical style teacher. About February, we noticed he was having trouble with some of the fingering. He’s a perfectionist, and stressed so much over not playing the way he wanted, he stopped playing, saying after 4 years, he needed a break. He had no pain, no discomfort, nothing seemed unusual and we were not concerned, thinking he would return to music when he was ready.

In July my husband and our son flew our airplane, landed and were taxiing to the hanger. Once there, my husband asked my son to turn off the ignition. Johnny attempted to turn the key with his left hand but was unable to, saying his grip wasn’t strong enough.

Well…two and half months later, two doctors, a skeletal x-ray, an EMG/MRI and we’re sitting in doctor #2 exam room, expecting to hear Johnny has carpel tunnel from excessive guitar playing. We were shocked when the doc tells us he believes our son has either MMN or ALS and he’s referring Johnny to UC Davis in Sacramento for confirmation of his diagnosis. He claims to have been incorrect with this diagnosis only once before. We now have a consultation meeting scheduled with Dr. David P. Richman at UC Davis on November 4. (Another month lost!)

After reading information on this site and credible online sites, I realize there weren’t nearly enough tests for us to be told that our son had MMN/ALS or any other illness. I’m still furious about his unprofessional handing of this which has caused untold, incalculable stress upon our entire family, but especially my son.

Here is a portion of the doc report which I had to type since my PDF won’t copy/paste so pls excuse any errors…

“……complaint of several months’ history of weakness and atrophy of the left hand. Upon close exam, I noticed he actually had atrophy of both hands, but more pronounced on the left side. His hands, especially his left, appear misshapen due to the muscle atrophy. He has normal sensations throughout. He has significant weakness of both hands, more on the left than the right. He had hyperreflexia throughout all four extremities. I also noticed some fasciculation in the upper left extremity.

“Electromyogram of the upper extremities on both sides and the right lower extremity and the tongue muscles showed 2-3+ positive sharp waves and the fibrillation potentials in the left deltoids, biceps brachii, extensor carpi radialis, pronoator teres and the first dorsal interossei, as well as fasciculation in all those muscles. Also, in all those muscles, there was significant reduced recruitment. In the right upper extremity, there was 1-2+ positive sharp waves and fibrillation potentials in the right deltoid, biceps brachii, extensor carpi radialis, pronator teres and the first dorsal interossei. In the right upper extremity as well, there were significant fasciculation noted. In the right lower extremity there was a lesser degree of fibrillation potentials but 1+ fibrillation potentials were present in the right anterior tibialis and the right vastus medialis. There were also some fasciculation noted in the right lower extremity, but to a lesser extent."

"In light of his clinical picture, normal sensation, hyperreflexia, weakness and atrophy in both upper extremities, negative MRI, this electromyogram finding is quite suspicious for possible motor neuron disease.”

NOTE: He verbally gave us a diagnosis of MMN or ALS but didn’t mention that in his report…is that the normal procedure? Why would he tell us that and NOT include that information?

I’m scared, can’t eat or sleep and angry on so many different levels. I’m doing massive research, trying to weed out misinformation so we can be proactive not merely reactive, especially at the consultation at UC Davis. In this endeavor, I’ve deeply appreciated this site. The abundance of practical information here is invaluable. The concern and support of so many individuals who are bound together, yet will most likely never meet in person, is over whelming.

I would appreciate any feedback, as we truly at a loss of how to deal with this. There is more I could say but I only have so much Kleenex and you get the general picture.

If you’ve read to this point, thanks for your time. Sorry if this is too long.

Valya
 

L4dybugg

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So sorry to hear what you are going through. I will certainly keep you and your family in my prayers. There is alot of love here. You will get the support you need from these wonderful people. Please feel free to ask as many questions as you like. Someone will answer them. Please take care!

Hugs
 

wright

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I am so very sorry for what you, your son and your family are going through at the moment. You have come to the right place so please lean on us as much as you need.

I'm not sure how much you know about EMG's but I will tell you some of the basics.

Positive sharp waves (PSW's) and fibrilations (fibs) are both spontaneous electrical activities that indicate muscle cells (individual muscle cells are what make-up muscles) have been denervated . . . meaning that they have lost contact with the nerve that allowed them to work. The amount of denervation is indicated by numbers designated +/- or +1 or +2 or +3 (the bigger the number, the more denervation that is present). The presence of PSW's and fibs indicates that the denervation is ongoing.

Fasciculations are a type of spontaneous electrical activity of a group of muscle cells that could indicate a malignant or benign condition. These are either present or they're not present.

Reduced recruitment means that a muscle does not contract to its fullest potential because some of the individual muscle cells are not functioning properly, either because they are damaged or have lost contact with nerves.

Something I didn't see you mention was motor unit potentials (MUP's). If you see this mentioned on the report, it can be either normal, reduced or increased. If it is increased, it means that the muscle cells that lost their nerve contacts (i.e. the denervated muscle cells) managed to be reinnervated by collateral nerves . . . meaning nerves that were close by and not damaged. If the MUP is decreased, it means that there is a loss of muscle cells (this would point away from ALS, at least in the initial stages of ALS).

With ALS, what is typically seen in an EMG are the presence of PSW's and fibs and fasciculations along with increased MUP's. Having said that, those findings aren't only found with ALS. Those findings could also be seen with MMN and some other types of diseases and syndromes that chronically eat nerves (i.e. diseases called neuropathies).

MMN is NOT a motor neuron disease; it is a type of peripheral neuropathy and IS treatable. Typically reflexes are diminished with MMN but not always. Reflexes are increased with ALS . . . BUT . . . you said that all of his reflexes are brisk and in the very beginning stages of ALS, increased reflexes are typically asymmetrical. Sometimes people simply have reflexes that are brisk . . . especially in younger people like your son.

Bottom line: there is certainly cause for concern given his widespread denervation . . . BUT . . . don't jump to any conclusions because you haven't seen the specialists yet. I think it was a bit premature for the present neuro to give you that diagnosis but do your best to put that out of your mind, because he has deferred to a more specialized institution that will know for sure.

I'm not exactly sure what you were looking for in a response but I hope that helps. If you have more questions, please ask.
 

sdsyd

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You are in my thoughts and prayers as well. If you have a big family with lots of friends I'd suggest setting up a site at caringbridge.com where you can keep people updated about your sons condition ( he can do it himself if he is able)

Best of luck to you and your family. This is a great place to come and talk,cry,laugh and vent.

Love,
Cindy
 

northerngirl

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Dear Valya,

What a problem you are going to have to solve. The biggest fear is the unknown and the waiting for answers are an eternity. I hope you hang in there and don't stress your self out to bad because there are other possibilities and you will have to approach this clearly. I am going to say a prayer for Johnny, but you too, being a mom is a hard job some days and you sound like a wonderful one.
 

laurel

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Dear Valya,

Just wanted to say that I am so sorry to read about the situation your son is facing, and the awful stress for all of you. Words probably cannot alleviate that level of anxiety and the only thing that will is getting the answers. When my husband had a query of ALS, I couldn't think or sleep or eat. I was just a pacing maniac sitting at the computer for hours trying to figure things out. We had good news in the end. My husband was diagnosed with CIDP-MADSAM variant. He too had an atrophied right hand. But he had decreased reflexes. I am hoping for a treatable disease for your son, and will pray for you and your family.
Laurel
 

KANSASTOM

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Valya, I had a similar experience with a neurologist. After some testing my GP sent me to a neurologist who declared I had ALS after a fifteen minute exam. This diagnosed was both careless and insensitive and caused alot of pain and heartache for my wife and kids. At that point my GP wanted me to go the Mayo clinic for evaluation, but instead I went to the local MDA/ALS clinic. I encourage you to get a second opinion from a specialist, my diagnosed has been changed to Distal SMA or possible CMT type II. I aslo encourage you to take a look at your family history, there are alot of hereditary entities that look like ALS. One to look at is the BSCL2 neurological disorders, it is included in the ALS differentials. Good luck I wish you the best.
 

KANSASTOM

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Valya,
I wanted to also say that the neurologist did give me a verbal diagnosis of ALS and said he didn't have a crystal ball, he didn't know what the future was for me. In the report he sent my GP he said I had lower motor neuron symptoms which could turn into ALS. What was the reason for this, I can only guess that he was scared to put in writing. So it's okay to verbally tell me when it's just me and him and the room, but he wasn't confident enough to put in writing.
 

Jamiet

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I'm so sorry to hear this, it breaks my heart.

I will tell you the one most positive thing your son has going for him and it's about the strongest ally you have at this point.

Due to the sheer nature of his age, it's more than likely he does have a disease, but not ALS. What about Charcot Marie (sp.)?

I'm praying for you and your family.

Rgds,

Jamie
 

olly

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valya

i am so sorry to hear about your son,these kind of things should not happen to such young people.
i really hope this neuro was wrong about als and it is something more treatable.
i have a 19yr old son,so can only imagine what you are going through.
you and your son are in my thoughts and prayers at this terrible time.
 

suzannj

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Valya,
I don't have any truly valuable medical-related advice to share, I just wanted to say that I too am a Mom of a son and if I knew that my baby was sick, I would be out of my mind with worry. I am SO SORRY that this meteor has come crashing into your life. I know that when I read KansasTom's post, I felt very uplifted for you (and congratulations KansasTom, I had not read your update and I am SO happy for you).

You have a BIG job ahead of you as "Mommy". Surround yourself with caring friends and/or family who love you and your son and husband. BE STRONG and take great care. I will pray for you tonight.
- Suzann
 

patricia1

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Valya

Doctors have been wrong many times. Go you as many opinions as you can
Never give up.
Many things mimic ALS


I will pray for your son

pat
 

Valya

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I haven't been able to get on computer ALL DAY and am literally moved to tears by so many kind responses to my posting. Thank you all very much. I hope I push all the right buttons here....

L4dybugg: You were right, there is a lot of love on this site, it's definately a good place to be. Thanks for your encouragement.

Cindy: Thanks for your good wishes and for the info on caringbridge.com. I hadn’t heard of that site previously. We do have a very large family, even to the Virgin Islands. I’ve already had problems with returned emails and not remembering to whom I sent what information. Thank for the tip-something just got easier! Wahaaaa Whoooo :lol:

Lori: Thanks for your good wishes also. We can use as many prayers floating upwards as possible. Thanks for adding our family and my son to your prayer list. That means soo much. And thanks for the hugs, I’m sending a huge bear hug right back to you. :lol:

NorthernGirl: Thank you so much for the prayers, each one is much appreciated. You hit the nail on the head. It’s the unknown and hurry up wait which is unbearable. If it’s treatable, let’s get something going……!

Thanks for the wonderful mom comment but being a good mom wasn’t good enough. Both my sons did Tball, swim lessons, fencing (yes, shades of Errol Flynn!) soccer, karate, music lessons, cub scouts, Sunday School blah blah blah, I did it all. But that didn’t protect my younger son from being diagnosed with Type 1 diabetes 3 years ago when he was only 11. He spent 5 days in the hospital. They expected his heart to fail, but he pulled through. And it didn't protect Johnny either while the felon down the street will smoke and drink and live til he’s 90. Still figuring out that one....

Thanks for your advice, and you’re right, we need to focus on other possibilities and be grateful that we have two wonderful boys.

Laurel: Thanks for your encouragement. Yes the limbo state is such a incredible strain. I also sit for hours at the computer, looking up facts, much of which I don’t understand until I read it 20 times and then compare multiple web sites for clarification. I’m truly thrilled that you and your husband received good news. Thank you for sharing, that gives me hope :-D

Kansastom: As far as I have been able to track, there is no history of of anything related to this on either family side. My parents are gone, can't confirm with anyone on my side. Sorry you received the same hasty diagnosis, with verbal diagnosis different from the written. It does appear as they are not confident enough of their diagnosis for other medical professionals to see it which makes no sense, since the patient will relay the verbal in any case. I will look into the BSCL2 neurological disorders, thank you for the tip, your kind words and encouragement.

Jamiet: Yes his age is definately in his favor, in fact that's one source of comfort for me. Charcot-Marie-Tooth is one of the many possibilities, although he has had no pain at all and is not experiencing tripping or foot deformities. The doc did note ankle clonus however. Thank you for your prayers, he needs them all.

 

L4dybugg

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Valya, you are so very welcome. And here is a hug for you!

 

Valya

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Sooo sorry how my last post came out. I wrote in word thinking it would be easier and yes, I am new to all this...

I would edit it but I don't have editing priviledges...

Caroline: Yes it should not happen to young people. He just got a job, planning on college in January. He's one of those really great kids, never went through that rebellious teenage phase. Thanks for your thoughts and prayers. Give your 19 year old a huge hug and just sit and listen to him/her. Keep the vid camera going too. Thanks for your prayers.

Suzann: That's exactly the way we feel, as if a meteor came crashing into our lives. Thanks for your prayers and encouragement.

Pat: Very true, doctors are wrong frequently. They are just people and this disease pattern is very complicated. I'll hold out hope until I'm given reason to not. And yes, I learned when quite young to NEVER give up. Thanks for your prayers.
 
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