Friday, April 29, 2016

The Clear Blue

It's been a strange day from out of the clear blue.

Last night, I had this gnawing feeling to dig up the medical binders from 1995.  Shelbie was three years old.  It was the year I started keeping medical reports.  This morning, I spent over two hours pouring over test results.  Time passes and the details of the past are fuzzy at best but reading all those medical notes again, brought back so many memories.  So many things I had forgotten.

It was the same year that Shelbie had a chest x-ray because of continued breathing problems, infections, etc.  That report noted that she already had those nodules and calcification in her lungs.  Why...I'm wondering now, why the doctors never told me about this.  I had the report but that was pre-google, pre-computers- long before I began learning about these complicated issues.  I functioned under the assumption that if it was important, they would tell me.

I also found the very first abnormal blood draw that sent us to Primary Children's and one of the world's best immunologists, Dr. Shigeoka.  From the age of two...there were striking problems with her CBC.  I took a picture and texted it to Dr. G.  It was an education to go over the early bone marrow biopsies with the knowledge I have now.  It gave me even more clarity that the problems today have been evolving.

This afternoon, again, from out of the clear blue...I got a call from the National Institute of Health.  They have made some interesting headway in the study of telomeres and wanted to get updates on the kids.  We went through everything that has happened in the past year and she asked if they could do a complete whole exome sequencing on all three kids, myself and my Wasband.  This is huge! Pretty phenomenal news! They want to test me and my Wasband for Dykeratosis Congenita and telomere length.  They have found two instances where they thought DC was maternally inherited but it actually came through the father.  Typically speaking, DC is an X Chromosome disease.  They will also focus on Shelbie and try to discover what the heck is going on.  From their point of view, Shelbie does not have a completely different rare disease than the boys.  It could be that the boys have two completely unrelated diseases and Shelbie shares one...we'll see.

Nothing may come of this but the fact that the leading medical researchers in the Nation are pursuing us is nothing short of a miracle.  I have been involved with them off and on but never kept in touch so obviously, something happened to put our family back on the radar.  She told me that they have the ability to have results in as little as 8 weeks once they receive our tissue samples. They have already been doing some things with the kids samples we sent years ago.

In other news...quite unexpectedly...I had another birthday.  My birthday was yesterday actually, the day of Shelbie's transfusion.  I typically don't make a big deal about birthdays especially since being divorced.  This year, the kids were amazing.  Shelbie decided she wanted to make me a cake.  Let's get one thing straight...Shelbie doesn't like walking into the kitchen for any reason!  She doesn't bake or cook but she was determined to do this all by herself.   Here is the finished cake!

Each of those flowers were handmade by Shelbie and Sam helped out too!  It's amazing!  


We had a late dinner at Texas Roadhouse...There is only one tradition I have on my birthday and that is eating ribs at Texas Roadhouse.  I order 4 ribs and that about fills me up and they are my favorite!  I only eat them once a year...my birthday is my big splurge day!  ha ha.

Me and Bentley...rare footage of me.
I appreciated the visits by a couple of friends and spending the evening with at least two of my kids.  Spencer called three times so it was like he was there!  He moved to Provo last night so he was pretty busy and I miss him like crazy!



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3 comments:

  1. An amazingly beautiful cake for an amazingly beautiful woman! Shelbie's artistic ability shines through in all she does! Prayers that this new study will benefit your kids.

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  2. Happy birthday! That cake is awesome!

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  3. What an entry full of news! I have to say that I've neve heard f anybody unexpectedly having a birthday! Good one, Kathy. I'v never seen a more beautiful cake.

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