Thursday, June 18, 2009

A meeting of minds

So much for the drowsiness, it passed rather quickly and Reagan woke up quite a few times fussing last night. Thank goodness we got that nap or we would have been exhausted today. I have to say overall I was less than impressed with Children's Hospital of Michigan. I had heard wonderful reports from other parents of people going above and beyond...maybe my expectations were just too high...but I was not impressed, that is not until today. Today we had our appt with Dr. Chugani. First we met with another doctor and he got a detailed history from us (which he then recited by memory to Chugani- very impressive) and told us the results of the VEEG and PET scan. Nothing hugely surprising. The PET and the EEG showed very generalized seizure activity all over the chance of surgery. The PET showed a hypometabolism of glucose (her brain was not metabolizing it well at all) in all areas except her visual cortex and a portion of her motor cortex. The EEG did show intermittent hypsarrthymia (more so during sleep) as well as an overall slow background. One interesting find is that the "twitches" she's been having, the ones that she has a lot of but we weren't that worried about because we didn't really think were epileptic, yeah they are. So she's having WAY more seizures than we thought. Not good. So at this point we're a little disheartened. Then Chugani comes in. He immediately started putting things together. The stiffness in her arms and legs, something we've been calling spasticity, he thinks is actually dystonia. Then the fact that she had cataracts. And of course Infantile Spasms. He thinks it's all genetically linked (which is nothing new, we've heard this all before) but the catch...he is very insistent on finding out what it is! For the sake of us, so we know whether or not we should have any more children, he wants the tests done and he wants them done now! He even brought in the geneticist and all three doctors had a quick brainstorming session right there in front of us. It was interesting to watch. They decided to take a sample of blood from us all to run tons of genetic testing...all very expensive but free of charge because they will be doing it as part of their genetic study on infantile spasms. Very neat. He also thinks she needs to try another seizure medication, Clobazam. This is one that was recommended to us by our neurologist but we were afraid to try it because it is from the same family as Klonopin. Apparently it doesn't have any of the nasty side effects of Klonopin and he thinks it might work better for Reagan (and also help a little with the dystonia). We're going to add it on top of the Topomax and the Keppra. It's another one of those drugs only available in Canada, so now we begin the process of trying to get it in our hands in the US. So that's it. We have a plan of action. A new medication to try and lots of genetic tests to run. It's all in their hands now. And they are very capable hands. All in all I would say the trip was a success and we're glad we did it. The flight home went surprisingly well too. Reagan was great. The only mishap was that she had a super smelly dirty diaper halfway into our flight and we had to change her right there on the seat! No changing tables! At least we were at the very back of the plane...but it was quite gross. AND when we got home we had an offer on our house! We made a counter offer and they accepted! We've gone almost 7 months with no offer and POW it's done. It's almost more stressful now that we know we have to move. Please say some prayers for us on this. We are quite stressed about it, we have a 30 day close and no leads on a new house. Thank you for all the prayers during our trip but please keep them coming as Dr. Chugani continues to research Reagan's history and genes to try to uncover the root of her problems, as Reagan starts yet another new medication, and as we try to find a new house that fits us.


Heather said...

So happy to end my night with an update.Have thought about you all day.Really happy to hear you liked Dr,Chugani and the way he went about things.Sounds like a good plan and plans are always good.As for the house ... Congratulations!!It's a GOOD thing.It will all work out.Maybe it is a sign that the tide is going to turn for the Guidry family.We'll pray for that.Can't wait to talk to you and catch up.Rest well.And love the pictures of Reagan on the plane.She looks happy and b eautiful and oh so well behaved!!

Sophie's Story by Elaine said...

So glad that Dr. Chugani was able to give you some answers. Hopefully you will find out much more with the genetic testing.

At least Clobazam is fairly inexpensive...about $35 a box of 90 tablets of 10mg plus some other fees. Sophie never went higher than 10mg/day so that would be at least a 3 month supply. If you want more info on it, let me know.

Yeah for getting your house sold and hopefully you will find a new home quickly.

Thanks for updating even though I know you have to be exhausted.

jocalyn said...

I agree with Heather...maybe the tides are finally turning! Congrats on the house and the successful trip.

We found a great pharmacy in Canada. If you'd like their info, let me know.

Glad you made it home safely.

Jamie said...

This to me is very exciting!! I want to go there with madie now!! AND your home is sold! Ok so things HAVE TO look up for you guys! I would LOVE genetic testing for madie!! The genetic guy WE saw said he saw no reason for any tests and that madie was not going to walk...TALK about AWFULL!! I would LOVE for someone to listen to me for once!
(ANYHOOOO Miss Kill-Joy here..)CONGRATS and lots of prayers!!

blogzilly said...

You must be tired, I know I was coming back. Glad to see the update. Sounds like they were very interested in her case and willing to really push to find answers and relief.

Get some rest and conrgats on the house too.

Holli said...

I heard on Madie's blog that you guys had a trip to Detroit, so I thought I'd check in to see how it went. That is really wonderful that Dr. Chugani is so dedicated to getting to the root of the problem. My prayers are that he and his colleagues will figure it out to help Reagan. She's such a precious little girl.

I was really surprised about your experience at Children's Hosp. I couldn't get over the difference between them and TX Children's. It was like night and day to me. But, that scheduling mishap with the VEEG and PET would have made me nuts.

Anyway, I'm so very glad to hear that even though she's not a candidate, it was information gained and worthwhile. He recommended Clobazam to us too when we were there, but we tried the Banzel first (another recommendation).

Praying you get insight and information soon!

jennifer said...

I am really impressed that the Dr. was so decesive and has a plan for Reagan. I am also so happy to hear about your house. Let me know if you want me to come up and help you pack, I don't mind at all and kind of even enjoy it (which is sad to admit)!