Abnormal Muscle Biopsy??

[danceISlife]

Hi everyone, I'm just curious if any of y'all have ever had a muscle biopsy come back abnormal. I was diagnosed with scoliosis late last year and just had the spinal fusion surgery last week, and the doctor was very curious about my curve (saying that it was atypical). I had a very long, sweeping "C" curve and my doc wanted to make sure there were no underlying causes so he sent me for an MRI of my entire spine. Everything came back normal, so there was no suspected Chiari or a syrinx, etc. When my doctor did a brief neurological test, everything once again came back normal. Anyway, because my curve was fifty degrees he felt that surgery was my best option and I decided to go for it. I am very happy with the results--however, today at an appointment my doctor informed me that a muscle biopsy was taken during my surgery and it came back abnormal. There are supposedly about five protein alterations/deficiencies (but very mild). None of these abnormalities pinpoint any disease specifically; however, the docs think it may be some form of muscular dystrophy!! Somehow it's hard to believe that, though, because other than scoliosis I have had no other health issues before and I have no symptoms whatsoever of muscular dystrophy. Anyway, next month I am going to see a neuromuscular doctor. Just curious if any of you have dealt with something like this/have any insight. Just because they think may be MD, it doesn't mean it is right? Thanks so much, I would really appreciate any feedback. And sorry this is so long...

[Susie*Bee]

Nicole-- just wanted you to know I'm thinking of you! You've been through so much, and then to get this added news seems like so much for you to have to handle. Best advice from me is to not jump to any conclusions (I never listen to my own advice here, but maybe you can!) and just wait and see what they determine. You'll be able to handle it ok, whatever it is, and we're all here to help provide support. Hang in there!

[danceISlife]

Thanks so much for your quick reply, I really appreciate your kind words. Yeah, we're all not trying to jump to any conclusions. I mean, this all really makes no sense. The pathologist's report I consider to be more of a guess based on findings, and I know it's not set in stone. I know a lot of the supposed abnormalities point to a neuromuscular disease such as MD but as I said, I have absolutely no symptoms. It also said in the report that the few abnormalities I do have are usually not seen together and that is why they can't really pinpoint a disease. And my mom had basically my entire medical history faxed over; aside from the "atypical" scoliosis, everything else is absolutely normal. Even during surgery when they monitored my nerves and spinal cord, the report said that all of my nerve reactions were normal and I had "five out of five limb strengths." Physically, like I said, I have no muscle weakness of any kind. In fact, I consider myself to be somewhat stronger than average as I'm a dancer. Anyway, we'll try to "hang in there" until the doctor's appointment. It's just that something doesn't seem right with this "diagnosis." It really is just a guess, but it just wasn't expected and shook us up a bit. We thought after surgery my issues would all be over. Thanks again.

[skoshi314]

Thanks so much for your quick reply, I really appreciate your kind words. Yeah, we're all not trying to jump to any conclusions. I mean, this all really makes no sense. The pathologist's report I consider to be more of a guess based on findings, and I know it's not set in stone. I know a lot of the supposed abnormalities point to a neuromuscular disease such as MD but as I said, I have absolutely no symptoms. It also said in the report that the few abnormalities I do have are usually not seen together and that is why they can't really pinpoint a disease. And my mom had basically my entire medical history faxed over; aside from the "atypical" scoliosis, everything else is absolutely normal. Even during surgery when they monitored my nerves and spinal cord, the report said that all of my nerve reactions were normal and I had "five out of five limb strengths." Physically, like I said, I have no muscle weakness of any kind. In fact, I consider myself to be somewhat stronger than average as I'm a dancer. Anyway, we'll try to "hang in there" until the doctor's appointment. It's just that something doesn't seem right with this "diagnosis." It really is just a guess, but it just wasn't expected and shook us up a bit. We thought after surgery my issues would all be over. Thanks again.

Hi Nicole,
I have a couple of questions for you, if you don't mind to answer them. First, are you really only 16? You are so well spoken and knowledgable for 16, and I'm so very impressed! My daughter is 17 and you remind me alot of her with regard to how you communicate.

Also, I'd love to know what state you live in. I was reading your posts and the "y'all" sounds very familiar to this Okie!

I'm so sorry about the biopsy results. You seem like an amazing young woman, and so strong, you will be able to handle anything life throws at you with poise and grace. Science is not always perfect, and sometimes human error does happen. I'll keep my fingers crossed for a good outcome. We are all here to support you no matter what! Hang in there!

[Susie*Bee]

Nicole-- it sounds like you and your family are dealing with this well. And from what you've said, Becky's comment about possible human error could really be what has happened. I guess time (and further tests?) will tell. In the meantime we'll hope and pray for the best (and keep our fingers crossed-- right, Becky?!) and hopefully it will have a simple explanation. It's just hard for you and your family to be patient and wonder... Keep us posted!

PS--my oldest daughter danced-- ballet/pointe, until she graduated from high school-- so I know how strong you are! What kind of dancing do you do?

[danceISlife]

Becky- Yes, I really am sixteen. Thanks so much for that compliment. I guess suffering through my AP English class really paid off, lol. Did I use the word "y'all?" I didn't even realize it, haha. I guess that's where the southern part of me comes out. I agree, human error is definitely a possibility. Doctors aren't perfect--I researched a bit online and found out that if the piece of muscle wasn't handled properly then the results can be skewed. More proof that doctors mess up can be found by looking at my medical records, where it says I apparently have "cardiac myopathy." I went to see a cardiologist after an abnormal EKG and had an echo done, and nothing was found to be wrong. I was given a clean bill of health, so I definitely do not have cardiac myopathy. Anyway, right now we're all just focusing on my recovery from surgery and we're not going to dwell on the biopsy results. As my dad said to me yesterday, "One hurdle at a time." Thank you all again so much for the kind and encouraging words. I really appreciate it.

Susie- I also dance ballet/pointe. I love it and feel like I'm in the best shape of my life, though I'm sure my feet don't appreciate it .

[gerbo]

. Changes in the muscles have been described on many occasions, see for example http://www.ncbi.nlm.nih.gov/pubmed/9...?dopt=Abstract , question to ask really is whether this is cause or result of the scoliosis, could be possible, but with no other findings, i would not be surprised if it is a result of the scoliosis, rather then the other way around

[skoshi314]

In the meantime we'll hope and pray for the best (and keep our fingers crossed-- right, Becky?!) and hopefully it will have a simple explanation.

Absolutely! You will be in my thoughts every day.