They Said Yes to the WES

If you haven’t been following along with Emme’s story this post is an update to The Land Of 10,000 Lakes and Even More Questions. If you aren’t aware of the reasons behind our trip to Minneapolis or what the results were I’d suggest reading that first. Now on to the good news….

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In the end all it took was a couple of phone calls. After trying numerous times to have whole exome sequencing (WES) done on Emily we finally got a yes.

Liz called our metabolic team at Riley Hospital as soon as we got back on Monday. After giving them the information from Minneapolis on the urgent need to push for whole exome sequencing they told us they would be in touch by Thursday. They mentioned the possibility that insurance would say yes, but we would still have to pay a portion. So when Liz got a call Tuesday she was surprised. Surprise turned to excitement when they said not only did insurance finally say yes, they said yes at 100%. We were preparing to do whatever it took to get the whole exome sequencing, even paying for it ourselves. Now in a matter of days and a few calls we were on our way to possible answers. If the tests net no new information then they will likely come back in a handful of weeks. If they find some anomalies it could be up to 6 months before we have results.

The whole exome sequencing means so much more than just the opportunity to move forward with the TP-IAT procedure. For the entirety of Emily’s life we haven’t had a solid diagnosis on her underlying issue. We know all to well her myriad symptoms and ailments, one of them being pancreatitis. For three years we have gone through new tests, new options, new hope. And nothing. No answers, just more questions. So while the whole exome sequencing only nets a result 25% of the time, just knowing that we are getting a chance at answers is enough for us. We have tried to live by the words that Dr. Strauss said during our appointment with him last year;

“This does not define her, this is not who she is”

We have always tried to separate her life from her medical conditions but it’s tough. While we don’t back away from it we don’t dwell on it. With all of that said I would be lying if I told you we didn’t care what the testing comes back with. From day one we have said we can handle whatever the diagnosis is, we just want to know what it is we are facing. It has been comforting to hear from nearly every specialist we have seen that they wouldn’t have changed much about the way her specialists at Riley have treated and cared for Emily. However there were many months were we questioned their treatments, especially without a diagnosis.

Long ago we stopped worrying so much about putting a name to her underlying issues and just worried about her quality of life. We worried about enjoying the good times instead of wondering what label we needed to place on her. We concentrated on keeping her as healthy as possible, not having a name to place on what ails her. It is difficult when people ask what’s wrong with her. We really don’t have an answer. And now we might.

While the whole exome sequencing is necessary to continue down the path of having her pancreas removed, it’s also going to help (hopefully) with removing something else.

Our doubts.

 

 

3 Responses to “They Said Yes to the WES

  • Tosha Whitlow
    1 year ago

    Fantastic News! God is so good and you can see HIS hands working within this situation for sure!! Praying for you all!!

  • Sue Johnson
    1 year ago

    So happy for all of you!!! YAY!

Trackbacks & Pings

  • On commonality and the meaning of harambee - Emme Jo :

    […] since it’s been so long, she had whole exome sequencing performed about four months ago. Checkout this previous post about what whole exome sequencing is, and means to our situation, if you haven’t read it […]

    8 months ago

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