Search for Chromosome 6 Deletion Answers at Mayo Ends… for Now

October 23, 2010

Today was neurology day at Mayo, evidently. We met with two different neurologists, one from the adult side of things and one from pediatrics. What did we find? What did we do? Not much new, and nothing much changed.

It’s been a recurring theme from our trip up here – with the exception of our meeting with Dr. Skinner, the physiatrist, yesterday – we’ve already taken many of the recommended steps that we’re having presented to us. Shel and I actually discussed this at length yesterday: was this trip worth it? So much of what we’ve been told up here matches what we’ve found from our doctors at home. You know what our conclusion was? A resounding YES, it was worth it. Want to know why? Because for the first time, we have a team of doctors, all connected at the Mayo clinic, all reporting their findings to our geneticist there. Everyone now has the same information relating Katy’s chromosome 6 deletion. Everyone is seeing the big picture. That is worth every penny we spent to come up here.

The only real change noticed by the neurologists was an indication of some possibly new spikes on the EEG in the back of the brain as well as the recurring ones from the front right lobe. However, we’ve made the decision not to medicate Katy for these. The only purpose medication would have at this time would be to reduce the chances of another seizure hitting her. There’s no doubt that we may end up regretting this. If Katy ends up with a grand maul that sets her back years, yeah, we’re going to sit here and wonder why we didn’t do this when we had the chance. But I just can’t sit here and pour more medications into my little girl on the chance that something might happen. I’d rather take the chance that she’s going to continue to make progress and continue to develop at her own pace and that hopefully, this decision doesn’t come back to haunt us.

Our final meeting with Dr. Ellison didn’t really clear anything up for us. Like we said after our first day here, the answers we’re looking for simply don’t exist. There are far too few cases revolving around Katy’s chromosome deletion to have any idea what is truly being affected. To our chromosome 6 deletion families out there, especially on 6q, what I can tell you is this: geneticists are separating 6q deletions into three main groups – del(6)(q11q16), del(6)(q15q25) and del(6)(q25qter). What are they looking for to do more research? They’re not looking for cases with the same deletion. What they’re looking for are overlapping cases, multiple children with deletions that cross over each other. It’s only with this information that they can truly begin to figure out which part of the deletion is affecting what genes.

If you’d like to help me start getting information together, I have an excel file located here. Please download the file, input as much information about your child’s -or your own – genetic condition as you feel comfortable doing and then e-mail it to me at todd (at) hope4katy.com. You can find that file by clicking here.

If I’ve learned anything over the past two and a half years dealing with this diagnosis, it’s this: Be an advocate for your child. The doctors, the technicians, the clinicians, they’ll all help as much as they feel they can; but you can’t expect them to work miracles. The only people with the ability to pull all of the loose strings together and make something whole out of it is yourself. I get frustrated all the time because I feel so inadequate to deal with everything that’s happening around Katy. In the end, though, what I came to realize this week was none of the doctors we met this week could truly understand the issues facing Katy outside of their specialty. They’re in the same boat with me. And the only ones who can keep trying to bring everything together for these doctors – and for my little girl – are the two of us up here with Katy.

If you want something done for your child, you have to force it to happen.

{ 3 comments… read them below or add one }

Tara Ecklund October 23, 2010 at 10:03 pm

Hey, guys! I’m glad you have had this opportunity. What I see is yes, it was worth it! For the most part, these drs have confirmed that you have a great team at home. For me, it’s the confirmation sometimes that I need. I’m surprised none of your therapists hadn’t recommended a physiatrist. We just finished serial casting with Lilly and she now has sooooo much range of motion in her heels! I hear they do this in combination with botox a lot. Casts are kind of a pain but what we accomplished in 4 weeks would have taken us 9mths with just stretches! You might check in to it. Hope you all have safe travels home and Katy is so blessed to have you and Shel in her corner!

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Todd October 24, 2010 at 6:45 pm

Tara-
I’m surprised that we have never heard it mentioned either. But that’s just kind of the way this whole thing goes, isn’t it? Either it’s just assumed that we already know about this or maybe it’s something else. Either way, we’re on our way now! We hope to hear from Dr. Skinner this week on what path she would like us to take.

Talk to you soon!
todd

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Sara March 11, 2011 at 8:40 am

I finally got around to filling out the excel file. I will get it e-mailed to you.

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