Tuesday, November 24, 2015

The unexpected

Today was so completely unexpected.

It started out okay.  Shelbie seemed to be doing better.  She was not in pain and so decided to head to Idaho Falls to get some fabric for a photo shoot she has tomorrow. I had a doctor's appointment and a couple of houses to clean.

At about 12:30, I got a frantic call from her that something was happening to her head.  Her eyes weren't tracking, she was foggy and said she felt like she was going to have a seizure.  I suggested that she grab a candy bar and see if getting some sugar in her system would help.  She has a history of low sugar that can make her feel weak and shaky.  I wasn't sure this was the problem but I didn't know what else to tell her.

About 15 minutes later, she called back and had lost vision in her right eye.  Still having a hard time tracking with her eyes, she had pain and tingling in her right arm and couldn't make sense of words.  She could see them but couldn't figure out what they said.  I was pretty nervous. My mom had a stroke a few months ago so I was a little extra worried.  I left right away and dashed down to Idaho Falls.  It's a 35 minute drive to where she was.  Another 15 minutes after I left, she called back crying and upset but her vision was back and she was getting feeling back in her arm.  Some people nearby had seen her crying and offered to stay with her.  They also shared their leftover Chick Fil A fries with her.  They were very nice people!

My first thought was that she had had a stroke.  Anyways, I got to her and I brought her back to the ER.   The ER was slammed!  I couldn't believe the number of people in the middle of the afternoon.  We got the last room.  When we finally saw the doctor, his thought was a stroke as well or a complex migraine that came on in a strange way.  The interesting thing is, it passed relatively fast and she never really experienced headache pain.

They did an MRI around 5 tonight.  It seemed impossible to me that she could have anything wrong with her brain and I kind of thought they wouldn't find any bleed.  He said unless she had a massive bleed, they may not know.  Even if a blood clot traveled through the hole in her heart and to her head, it was probably long gone.

I had a presentation at 5pm in another small town close by.  It was the first time I have ever chosen my job over my kids.  I had interviewed for this big project twice and was hired over three other designers.  I had already cancelled our presentation twice due to Spencer's issues two weeks ago, so I didn't feel like I could cancel again.  My Wasband was able to come up and sit with her while I ran to my presentation.  It sucked...my presentation was okay but I was so torn and couldn't even concentrate on the project.

I got back just as she was getting back from the MRI.

They didn't find a clot but they found several 'spots' or 'lesions' on her brain.

I can't even believe it!  The radiologist wasn't exactly sure what they were.  I have a feeling that they are AVM's.   When we met with the cardiologist in Utah back in October, he said that by the time the venous malformations show up in the lungs, they are probably already in the liver, which is usually where they start, then spread to the lungs.  The next place they spread to is the brain.

Earlier this year, they accidentally found all the "Non specific spots" on her lungs and said it was nothing.  Upon closer inspection from our pulmonologist, they discovered they were holes from the AVM's.

Ahhh...we left the ER with a CD of the MRI.  I will be on the phone tomorrow with NIH (National Institute of Health) where they are working on some research for us.  They are currently doing studies on AVM's and dyskeratosis congenita.

The ER doc who recently moved here from the U of U said, that if they are AVM's in her brain, they could create an aneurysm which is the big risk with brain AVM's.  We aren't sure if these spots are what created the neurological event today.

I'm trying to understand what is happening to us.  I remember on our last visit to Seattle to meet with the doctor who found the gene, tell me that she expected Sam had a few more good years left.  She said that most of the complications with the disease come in the third decade of life, between the 20's and 30's.  I believe we have arrived at this point with Shelbie and Spencer.

Spencer arrived home during all this chaos and met us up at the hospital.  He seemed a little distraught.  He had a pretty rough day himself.  Tonight, we are all together, the kids in their element with each other.  Shelbie is feeling better.  She is worried but I'm pretty sure it hasn't exactly started to sink in yet.   The distraction she has with her brothers is good.

I'm rambling now...but I really need to work on seeing my kids as anything but normal.  I think this is so hard because I like to believe we are normal.  For all of this to be happening to a completely, normal, healthy family is insanity!  The fact that this is all happening to a family with a fatal genetic disease is entirely normal, even expected.

It's all just hard and unexpected.


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