Recent Posts

Page 44 of 48

Hard drive arrived today!

February 17, 2015 11:19 pm

1

The hard drive arrived today from our whole exome sequencing! I have waited over a year for this moment! Thank you to my team in Wisconsin!! You are...

Continue Reading

Carcinoid is still an option but insurance company is denying requested tests?!?!

February 12, 2015 9:31 pm

1

This was the email I opened this morning from one of my specialists: “Thank you for the updates — how are you doing today?  I do not think...

Continue Reading

Update on Harlie Valdez. She is still at Primary Children’s Hospital

February 12, 2015 12:23 am

2

I visited Harlie and Stephanie yesterday. I am so very concerned for Harlie. I brought her a few fun things to do to take her mind of off...

Continue Reading

Quint Analysis Results are in. “First step” in a new journey…whole exome sequencing.

February 6, 2015 1:52 am

3

Yesterday was an interesting and exhausting day. As you may remember, we were not able to get whole genome sequencing approved through our insurance company for all five...

Continue Reading

Waiting for the meeting to start.

February 6, 2015 12:06 am

1

As I sit and wait for our geneticist and our genetic counselor to enter the room, I am sick to my stomach. There are so many thoughts going...

Continue Reading

Whole Exome Sequencing Results Are In!

February 3, 2015 12:52 am

3

We just got the call from our genetic team back in Wisconsin.  They want us there ASAP. Justin and I are flying tomorrow. Meeting on Wednesday. Flying back...

Continue Reading

Szajnuk Update. The journey continues. And, I am very scared.

January 31, 2015 7:42 pm

1

Dear Family and Friends, I started RUN for my three undiagnosed children. So, I apologize for blogging on it about myself lately. I want to share my journey...

Continue Reading

Harlie Valdez’s story with possible Juvenile Dermamyositis (JDM)

January 31, 2015 7:15 pm

12

I met Harlie the night we took Bertrand to the Utah Jazz game. Harlie was there with her family. Her mother, Stephanie, and I exchanged information. My heart...

Continue Reading

My 42nd birthday. A much better birthday than last year.

January 20, 2015 10:19 pm

4

Today is my 42nd birthday. It brought me back to where I was last year on my 41st birthday. I had gone to California to be by myself...

Continue Reading

TEDMED Thank you!!

January 20, 2015 9:26 pm

4

#TEDMED Frontline Scholar @ginaszajnuk is co-chairing Utah's 2015 Rare Disease Day in February. Follow @utahrare for details! — TEDMED (@TEDMED) January 20, 2015