Men's Muscle Building Resources

If your child suspected to have a mitochondrial disorder, you will be advised to have a muscle biopsy done. This is where they actually take a piece of muscle from your child’s thigh so they can analyze it for genetic mutations or whatever it is they look for. No, I don’t really know all the medical reasons behind needing to look at the muscle, I just know that when my child was two years old and I was told she needed a muscle biopsy I panicked. The doctors continued to tell me that it was a non-invasive surgery and she would recover well, but all I heard was surgery. We didn’t end up actually doing the muscle biopsy until our daughter was seven years old. This article will discuss our story and hopefully give you some helpful hints and pitfalls to avoid.
The reason we waited for such a long time to do the biopsy was because I felt like it was not necessary to put our child through surgery if the outcome was still going to be that there was no treatment for whatever mitochondrial disorder she may have. I felt like the doctors just wanted me to do it so they could know which one she had, and I wasn’t willing to put her or us through that just so their curiosity could be satisfied. What finally changed my mind was that I figured that even though there may be no medical treatment for whichever of the wide spectrum of mitochondrial disorders she may have, finding out which one it was may help us in knowing how to respond to her and how to best raise her.
The first thing you need to know is that there’s only one place to get a proper muscle biopsy done.
That is in Atlanta, GA with Dr. John Schoffner. I’m not saying that because I like the guy (which I really do). I’m saying it because to date he is the only one who tests fresh muscle rather than frozen. A friend of mine went through three muscle biopsies because she had done two prior to going to Atlanta and somewhere along the way someone froze the muscle the wrong way or someone messed it up some way. If your doctor pressures you to do a muscle biopsy anywhere else but Atlanta, say no. It’s hard enough to go through once, much less have to do it again because someone didn’t do it right.
When we first contacted Dr. Shoffner’s office there was quite a bit of paperwork to fill out and a few hoops to jump through. I think this is normal for medical procedures and I wasn’t too bothered by it. When we finally got an appointment the next step was to make plans to take a four day trip to Atlanta, which of course involves parents and grandparents (if they want to go) getting time off work. You do pay for all your own expenses, so you have to book a hotel and prepare for buying meals while you’re there. I think the Ronald McDonald House has some help for families that need to go for muscle biopsies, so if money is tight, ask about it.
The visit goes like this…you arrive at whatever time two days before the surgery, so that’s one night’s stay. The day before the surgery, you meet Dr. Schoffner. He is AMAZING! He’s the only doctor that was ever able to explain to Anna and take time with her so that she wasn’t scared or crying when he examined her. On this day there is also suppose to be a medical exam, but we opted out of it because it was one of those things where the kids had to be hooked up to electrodes and sit still fro 20 minutes. Yeah, that was not going to happen with Anna. It was easy to opt out, we just had to let Dr. Schoffner’s office know ahead of time. The next day is the surgery. For young kids they try to get them in early because you do have to make them fast before surgery. It lasts about an hour, and then you go back to your hotel and rest. They want you to stay there until the following day to make sure that your child doesn’t need anything after surgery or have any complications.
The hardest part for me was that I was led to believe that I would be able to go into anesthesia with Anna and stay with her until she was knocked out. They don’t let you do this. You sit with your child in the waiting room and then they come get your child and you sit there and worry and twiddle your thumbs until the blessed moment they come out and get you and tell you that the surgery is over and your child is fine. Since I was crying almost hysterically over this, they were sure to come out and tell me once she was under, which took less than 10 minutes. It wasn’t easy, but I’m really glad we did this.
Come to find out, Anna doesn’t have a mitochondrial disorder at all. See, when they do this test they don’t just test for mitochondrial disorder, they test for whatever the problem may be. They take muscle, urine, and blood and test it all. Anna actually most likely has MECP2 Duplication Syndrome. If we had not had the biopsy, we may never have gotten to the bottom of what her issue was. I was right, now that we know more specifics of what she has, it equips us to know her better and know how to raise her and respond to her. It helps us get better services through school and know how to tell teachers and workers what we want for her education.
I hope this information has been helpful to you, and I hope that if you are facing a muscle biopsy you will feel better about having it done. Your instinct will tell you when it’s the right time for your child.

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