Tuesday, July 28, 2009

Genetics Results


On to the next diagnosis...At least we don't have to worry about Chase and cardiomyopathy now!

I got a very nice phone call from Dr. Du Plessis (from Boston Children's Hospital) Sunday afternoon. He suggests we look deeper into the possibility that Chase hemorrhaged into his cerebellum before birth. We have scheduled to go to Boston the first week of October. We will have a very detailed MRI (it will give a lot more info. than the ones he's had here) and then sit with Dr. Du Plessis and Dr. Limperopoulos (the Dr. I've been speaking of from Montreal) to discuss findings on Oct. 7th. They can't promise a diagnosis but this is what their research is focused on, so if they can't diagnose Chase, down the line, our hope is someone's child will benefit from what they learn from Chase.

Ok, other news...September 14th...EYE SURGERY!!! Dr. Awner will be tightening the muscles in the back of Chase's eyes to straighten out the cross-eyed appearance. It won't change his vision except to help him use his eyes together more.

That's it for now, we actually have a quiet week, KNOCK ON WOOD!!!!!

Have a great week, enjoy the sunshine we finally have if you're in WNY!!!


Wednesday, July 22, 2009

MRI Results

Just after I wrote the previous post I got a call from Dr. Senn, the DAY after the MRI with results! No, his cerebellum didn't grow back (I can joke, he's mine)..."his brainstem is not worse (not better, no change)...the rest...myelin, white matter, high cortex...IMPROVED AND MATURED VERY WELL!!!!!!!!" Thank God! How that man managed to get results 24 hours after, I'll never know...

Ahhhhh. Well, that feels good. I just expect the worst. You have to admit, we've had some major phone calls over the past few years, now we expect them. So right now I feel pretty darn good!!!


I don't have any results yet, but I can tell you that Chase is scheduled for eye surgery on September 14th to tighten the muscles!!! YAY!

Hope for fast results, I'm dying...for blood results, and now MRI...I have the disk from the MRI, all the images...now if only I knew what it all meant! LOL


Sunday, July 19, 2009

A Very Complicated Time, May Bring Answers...

Sorry I haven't posted...we've had a very interesting/involved couple of weeks. I'm not going to go into too much detail, but I will say that Chase had some special blood work drawn on Thursday to test for a specific type of syndrome. We've been in contact with a few doctors out of state and one (who has played a major role in suggesting this diagnosis) in Montreal. We'll give full details when we get the results (hopefully late this week!)

I will only say this, if it's positive, it not only explains Chase's symptoms, but Trey's as well. Different symptoms, same syndrome, as amazing as it sounds, we'd have so many more answers than we EVER had hoped to have!

Chase has a VERY busy week coming up. On Tuesday he has his MRI under general anesthetic. Wednesday is his 3 months follow up with his ophthalmologist to discuss surgery to correct his strabismus (eyes crossing). Thursday we go to a NEW doctor (just what he needs, right?) to be followed by hematology to have his clotting factors tested (liver function).

Aside from the medical mumbo jumbo he's doing great. This week his new thing is playing sooo big, and stretching his arms up as high as he can! He and the dog have begun fighting over the sun spot on the living room floor in the morning, it's great, Riley's trying to sleep, Chase's trying to play and they're all squished up back to back trying to soak up some sun, neither willing to budge!

He's trying new foods. This week he's tried chicken, pork, baked potatoes with cheese, crackers with soynut butter (YUM!), pancakes, black olives...I had to, they're my favorite. Everyone is horrified, but he loved them!

Well, as soon as I get results I'll fill everyone in. I can't imagine what it would be like to KNOW!!!!!

I have to take a minute to thank Mollie, aka Daxton's Personal Assistant, one of my Blog Buddies. She lives down in Tenessee and her son has a milder case of cerebellar hypoplasia (also with no diagnosis or cause at this time, I say milder because he has some cerebellum, it may not be the right term...). The doctor we have been in contact with from Montreal offered to work with her son if she ever got up there...figuring the distance was too much, she passed along the info. to me...Mollie...Dr. L. may have led us to a diagnoses this week....which would not have happened without YOU...thank you so much for sharing the info!!!

I will be in touch after the MRI if we get to talk to the radiologist...

Take care!

Thursday, July 2, 2009

A Little Thank You

I made a little design and sent it to an internet company to turn into a bumper sticker...Not, the ribbon, the other one :o)...
Bernadette, Chase's service coordinator, said they should hear some news about the van modifications on Monday.
I REALLY don't want to let it go for 6 to 8 weeks!!!


(click to see detail!)