Deciding on Another Surgery – Mayo Day 3

October 21, 2010

Our scheduled day off turned out to be probably the most important day of our trip. I can’t begin to tell you how impressed Shel and I both were with Dr. Skinner, the physiatrist we met with today.

Katy received by far the most exhaustive physical exam she has ever received. (She wasn’t too happy about parts of it; but for the most part she was happy with it.) Many of Dr. Skinner’s findings weren’t exactly earth-shattering to us. For instance, we’ve known for a long time that Katy has a hypotonia (low tone in her muscles) and that Katy has extremely flexible joints. She also found far more flexibility in Katy’s joints than she had expected to, something that, in places, I was even surprised to see. Something she did say made me extremely proud of my little girl, though. While working on Katy’s ankles, which are so lose it’s even shocking me, Dr. Skinner said, “You have to have some amazing strength in your muscles to overcome stability issues like these. I’m amazed to see she’s doing some of the things she’s doing.”

Where things began to change for us, though, was when the doctor commented that Katy didn’t seem to have any significant connective tissue in her ankles. Hearing this, Shel opened up our massive file of medical records and pulled out a new chromosome 6 study we received on our first day at Mayo and showed it to the doctor. The title: Developmental Delay and Connective Tissue Disorder in Four Patients Sharing a Common Microdeletion at 6q13-14. We’ve mentioned before that collagen may play a part in many of Katy’s physical issues. Now, for the first time, we have a doctor on the physical side of things studying these reports for us, as well. Will it make any difference? Don’t know.

The final problem we encountered and discussed is an old one – the dreaded right ankle – the one I’ve posted about before and done exercises with Katy for months on. Well, it appears I may keep working on this for years and not make any difference. Why, you ask? Evidently, Katy is spastic (high tone) in one part of her body – her right ankle. Her calf muscle there has completely contracted. Where before we couldn’t get Katy’s foot to move out of the twisted manner she holds it, now we can’t get Katy’s foot to flex back towards her shin. She literally can not hold her foot flat. The ball of her foot is close to an inch lower than the heel of her foot. Imagine how difficult it is for us to get her in her braces like that.

This is when the dreaded B word reared it’s head: Botox. Dr. Skinner told us she would like to inject a small amount of the stuff into her calf muscle as well as some of the muscles in her foot to allow us a three-month (or so) window to stretch the hell out of the muscles and hopefully get them to work correctly. Her hope is not to have to use the Botox again, that we would be able to get her muscles back to their correct positions and be done with the botulism. She explained the risks involved. Kids have died undergoing Botox injections. She explained the issues surrounding those deaths. It scares the crap out of me. But, and it’s a big but, I’ve now had three medical professionals who I truly respect recommend Botox for my little girl’s leg. It’s really hard for me to ignore this anymore. And the biggest thing of all is this: Katy will not put weight on that leg. Where we’re at right now is not a good place for my little girl. We’re going to have do something.

We ended up the day in pediatric radiology for a whole series of x-rays on her hips and ankles. Dr. Skinner doesn’t necessarily believe that her joints are functioning correctly – especially with the connective tissue deficit. This is not the first time Katy has received x-rays, but it is the first time that one doctor with a specific goal related to her joint mobility will be reviewing them. We’re hoping to hear from her next week about any findings.

So, do we do the Botox? We’ve got a little time to think and to look at options. We’ll let everybody know.

{ 2 comments… read them below or add one }

Sara Ladd October 23, 2010 at 2:27 pm

Thank you so much for sharing your experiences with us thru this website. So glad you were able to meet with a Dr that could give you some helpful info, I’m sure it has been a struggle not being told anything new. Last time I contacted you, I thought Parker’s deletion was 6q22 terminal but we have now learned it is 6q12-16.1 so it shares a bit with Katy. Would you let me know how to find the article you mentioned in this post? Parker is just a newborn so I know it’s hard to tell what his tone will be later on but his ankles are so incredibly flexible and move in such strange directions – I’d like to have as much info as I can get so we can start early. Thanks.

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Todd October 24, 2010 at 6:42 pm

Sara-
I’ll be happy to get you a copy of the article. I’m not exactly sure where it’s at on the web yet. Our genetic counselor at Mayo gave it to us. Look for an e-mail from me in the next day or so. And feel free to ask any questions you might have. Can’t guarantee answers, but I’ll be happy to help however I can.

todd

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