Muscle Biopsy

[Harmony]

Has anyone had a muscle biopsy? How painful was the recovery? I have one scheduled for next week and am a little nervous...

[Newcomer]

Yes, Of course, I have had it all. All that you are going through I have had done. The muscle biopsy I had was taken from my theigh. They made an incision about 2 inches long and they had to go fairly deep into the muscle to get what they needed. It is a bit painful after the pain meds wear off because they cut into the muscle and anytime you move that muscle you are gonna feel it but you should be ok. I found out that after my biopsy was taken that it was not needed for me. A simple blood test would have done to diagnose me with DNA but they did not know that at the time.

[Harmony]

They are going to take mine from the thigh too, the side of my left. I scheduled one day off of work after the biopsy. I just sit at a desk all day, but do you think it would be too soon to go back?

[Newcomer]

I think one day may be to soon. I would at least take 2 days.

[Harmony]

I think I will take two days. I have all the sick time anyway. It would be better not to push it, plus if I need pain meds, I won't be able to drive.

Thanks http://oakhurstonline.com/icon/rolleyes2.gif

[Harmony]

I found out that after my biopsy was taken that it was not needed for me. A simple blood test would have done to diagnose me with DNA but they did not know that at the time.

I wonder if that might happen to me. It's like the longest battle ever just trying to find out what the heck is causing this stuff. I have been bounce around from doctor to doctor trying to find someone who might have a clue. They didn't even mention a DNA blood test. They said that they wanted to do a biopsy to see if it is genetic or not due to no family history.

So, they were not able to diagnose you with the biopsy results alone?

[monkey]

So, how did it go? I hope your recovery was fairly quick and that everything is ok.

[Harmony]

Thanks for asking. I am doing well now, about a week after. I was pretty sore for a few days, so I stayed off my feet and did okay. I am glad I took the extra day off as Newcomer suggested. Now that it is healing, it itches really bad! I just want to scratch it off http://oakhurstonline.com/icon/confused.gif

Now we just get to wait for the results, I am thinking i should have them within the next couple weeks.

[Kahlua Kid]

Glad to hear you are healing from the biopsy.

Its a very tough thing to go through - we completely understand.

The waiting is killer.

I hope you have news that there is nothing wrong, but if they find anything, it has a cure or treatment. Going through the process of elimating potential diseases is very hard to do - it took Newcomer over 2 years for a correct diagnosis.

Please keep us all updated.

Take care,
KK & Newcomer

[Kim]

Harmony, Benadryl rocks for itching. Tylenol PM will help you at night. Glad you're doing well and that you took the extra time off. Keep taking care of yourself, and yes, keep us updated.

[Harmony]

Originally posted by Kahlua Kid:
I hope you have news that there is nothing wrong, but if they find anything, it has a cure or treatment. Going through the process of elimating potential diseases is very hard to do - it took Newcomer over 2 years for a correct diagnosis.

Take care,
KK & Newcomer

Thank You. Yes, it has taken a long time so far, I am hoping the end is in site. From your experience, was the biopsy what finally determined the diagnosis?

[Newcomer]

Harmony, No the biopsy was not what diagnosed me. A simple blood DNA test was what finally diagnosed me. After all those other tests a simple blood test LOL.

[Harmony]

I guess you have to laugh at it after all the ups and downs you must have went through during the diagnosis stage.

Did the biopsy at least point them in the right direction as to genetic or inflammitory disorder? I think that is their main goal in the biopsy for me. I am just hopeful that they may be able to diagnose me with it, I am ready to know what it is.

Another question, with Kennedy's Disease, are your CK levels high?

[Newcomer]

Hi harmony, The biopsy only eliminated things I may have had. Yes I had high CK levels. It will be interesting to see what they say next. Hang in there and keep me informed.

Terry

[Harmony]

I have my appointment tomorrow to see the Neuro for the biopsy results. I am a little anxious that I might hear bad news, but at the same time want to know what they have to say! Well, I will update you all tomorrow evening with whatever i find out.

[monkey]

I'll be praying for you.

[Summer]

How did it go Harmony?

[Harmony]

No disease in my muscles! It's good news but still don't know what is causing my symptoms. They are going to run some more tests to see if my CPK levels (shows inflammation in the muscle) are going down, i guess they had gone down from the first time i went in by about 40%. My neuro thinks i am getting better. He is also going to test me for myasthenia graves, he says i don't really have a lot of the symptoms, but thought he would check. I go back and see him in about a month... More waiting.

[Summer]

Glad to hear the good news of no muscle disease, Harmony! Hope the results are minimal. Keep us posted. http://oakhurstonline.com/icon/happy.gif

[Kahlua Kid]

Wow -that's good news.

But bummer to still be wondering.

I hope its nothing... maybe was a temporary situation?

[Yosemite_Wolf]

good luck to ya harmony. The waiting is the hardest part (wait, tom petty said that).
We are here with ya.

[Harmony]

Thank you all.. Guess what now? I got a call from my neuro today. The specialist at UCSF said that they should have took the biopsy from the calf muscle rather than the thigh and they want to do another biopsy from the correct muscle! I really don't want to go through that again and they might not find anything there either. My neuro here in Fresno said that it will be very painful http://oakhurstonline.com/icon/sad3.gif I am not sure what to do, i told him to schedule the biopsy, but it will take a while to happen so i can cancel if i choose...

[monkey]

Harmony, that really sucks. I must be so frustrating to have to go through all of this and still not know what's going on. I'm sorry.

[Summer]

Harmony, any updates on your condition?

[Harmony]

Thanks for asking, Summer. Yes actually I I had my second biopsy on Tuesday and got a call from the Neuro from USCF on Friday.

They did confirm with this biopsy that I do have a muscle disease, not an inflammitory disorder. He said that my muscle doesn't look typical of muscular dystrophy so he has confirmed a disease, but doesn't know what kind. He said there are more extensive tests (didn't get the name) that they can do on the biopsy to get more information. He is going to call me after those tests are completed. He also mentioned something about seeing rimmed vacuoles, but that doesn't mean a lot to me (need to do some research on that term).

He did say that with most muscle diseases there is no treatment so it is probably something i will have to deal with forever, it will just be nice knowing what exactly it is so i know what to expect it to develop into.

As for the biopsy itself, it went pretty well. I think maybe better than last time. But on Friday I flexed my foot and got a sharp sensation from my calf to my foot and since then it has been completely numb in that area, really weird. I go to see the surgen tomorrow so i will let him know and see what he says. I hope i didn't mess up a nerve or something (that's all i need!!)

Anyway, that is my long winded update http://oakhurstonline.com/icon/happy.gif

[Kim]

Harmony, if you're still online...do not flex that leg, do not rub it, keep it elevated and warm, and try to have someone drive you to the doctor tomorrow. You described exactly the symptoms of a clot in a vein in your calf, and if you have that, you do not want that bad boy to move. If you can get to Urgent Care to get an ultrasound, it would be the safest thing for you to do, and I highly recommend that. If you can't, just do what I just suggested, oh, and take an aspirin. If you have any shortness of breath, call 911. If anyone else reading this has Harmony's number, call her please.

[Harmony]

Thanks Kim. I wanted to let you know i got your message and am following your advise and i will go to the doctor first thing tomorrow.

Thanks again

[Kim]

Good. Hope I'm wrong, but you can never be oo careful with your good self.

[monkey]

How'd it go?

[Harmony]

I saw the surgeon this morning. He said that i have probably stretched a nerve or have a damaged nerve due to the procedure. He says this happens sometimes and it may be a while (if ever) for it to go back to normal. I go to see him again in a couple weeks for a follow up.

It kind of feels like a nerve thing because if i bump my incision area i get a shooting sensation down to my foot, it is really strange.

[monkey]

I'm glad it wasn't the clot thing that Kim was talking about, but still doesn't sound good. Hang in there and keep us posted, please.

[Summer]

Yeah, I was worried about that clot thing too. Glad that wasn't the case. Hang in there Harmony and know there's people on here who think of you and are concerned. Keep us updated.

[Kim]

I'm glad too. I love to be wrong. It's hard to tell without seeing it, but sometimes people describe symptoms that raise the hairs on the back of my neck, and that's what happened. So I always play it safe and assume it's a scary thing. So I'm really happy it was the nerve.

[Summer]

Originally posted by Kim:
I'm glad too. I love to be wrong. It's hard to tell without seeing it, but sometimes people describe symptoms that raise the hairs on the back of my neck, and that's what happened. So I always play it safe and assume it's a scary thing. So I'm really happy it was the nerve.
It's ok to be concerned when you hear of a situation that could be harmful. Too many people pooh pooh their symptoms. We appreciate medical professionals like you Kim that can warn of danger. I think its always safer to be on alert for the worst scenario and if its not that's great. As the old saying goes - "better to be safe than sorry". I always wished we had a doctor or nurse in our family. Or even a lawyer!

[Harmony]

Thank you all for the kind words, and thanks for your cautiousness Kim. I agree you can never be too careful.

I found out that the extra test they are doing is looking at the biopsy under an electron microscope, we will see what that says. I will keep you all posted.

[Harmony]

I have a clinical diagnosis....

Nonoka Distal Myopathy. It is a form of Muscular Dystrophy. As with all MDs there is no treatment.

I say i have a 'clinical' diagnosis because there is not currently a test that identifies this disease exactly. My doc at UCSF did say there is currently research being done on a blood DNA test to identify this type of MD. He is going to call me back with the information on that, I would be interested in being a part of that type of research. It would be nice to know for sure that the diagnosis is correct.

So there you have it.. I am looking for a forum with members who have this disease to get feedback from them on the progression and that sort of thing. If anyone knows of a good site, please share.

[Newcomer]

Sorry to hear of the diagnosis Harmony. Here is some info I have found http://www.neuro.wustl.edu/neuromuscular/musdist/distal.html#hibmr I am still searching I will post more as I find more. Hang in there


Summary
Nonaka distal myopathy, described in Japan, belongs to the heterogeneous group of distal myopathies and is transmitted as an autosomal recessive trait. The disease onset occurs between 20 and 30 years and the first symptoms are walking difficulties. Distal weakness predominates in the tibial muscles, progressively leading to a steppage gait. Pelvic and femoral muscles are involved later in the disease course, but the quadriceps are spared for a long time. The upper limbs are affected later in the disease's course. Facial and ocular muscles are also spared, along with cardiac and respiratory muscles. Most patients become wheelchair-bound 10 years after the onset of the disease. Serum creatine kinase levels are normal to slightly increased. Predominant histological lesions are rimmed vacuoles. Nonaka myopathy has been linked to the locus 9p1-q1 and mutations have been recently identified in the gene GNE, which encodes an enzyme involved in the sialic acid biosynthetic pathway. GNE is also the causative gene in quadriceps sparing autosomal recessive inclusion body myopathy (h-IBM1) , indicating that Nonaka distal myopathy and h-IBM1 are allelic disorders.*Author: Dr I. Pénisson-Besnier (March 2004)*.

[Newcomer]

Harmony, I know that this can be scary to read but if you need to talk to someone who has gone through this I am available. Always remember that because there is no real postive exact test for this that it may not be this for sure. It gives you a direction to look and to do your own research to figure out if this is correct or not. no one knows your body better than you and you know what yolu are feeling better than anyone. Take a deep breath and accept the diagnosis for the time being and see if this all matches up with what diagnosis they gave you. It still may be incorrect. Doctor's are not alwas right. I went throught 2 misdiagnosis myself. We are here if you need to talk.

Terry

[Harmony]

Thanks for the support Newcomer. That information you posted is the same thing i found and is about the only good information i have found so far. I posted on Brain Talk Communities in the neuromuscular forum to see if anyone on there has been diagnosed the same. We will see what replies I get there.

[monkey]

Wow, I'm so sorry to hear this news. I will keep you in my thoughts and prayers. I wish there was more I could do.

[Kahlua Kid]

Hi Harmony,

I'm so sorry to hear about this. I know its a real bummer. And I wish I could tell you why this sort of things happen. But I can't.

I remember when Newcomer was first diagnosed and all we went through back then. Its very difficult I know.

I learned very quickly we had to adjust our expectations for not only Newcomer and the role he played in our family, but for me too -

I expect you may go through the same steps we went through... first shock. Then anger. Then Grieving. then acceptance. And honestly its much easier once you accept it and learn to enjoy everything you can now. And to fight it. And to stay positive.

I also learned that talking to others going through the same thing really helps tremendously. I didn't talk to anyone about Newcomer's situation for 2 years. I just figured I'd tough it out. But once I started to share and learn from others, it helped tremendously.

Keep your chin up and let us know if you need to talk.

[Yosemite_Wolf]

Yes Harmony... you are amongst friends here.... and nurses too.. as KK says, talking helps, big time.. .but only as much as you feel you can discuss.... but once you start talking, will feel able to discuss more or less.. let your body be the judge. Your mind will tell you haw muc to talk about. But the impt thing is you are amongst friends here. http://oakhurstonline.com/icon/happy.gif

[TOT]

Originally posted by monkey:
Wow, I'm so sorry to hear this news. I will keep you in my thoughts and prayers. I wish there was more I could do.

Ditto.

[Kim]

I believe Wolfie would agree....you do have nurses in your family.