a long (but worth it) wait

This update will not be too thrilling, but because this blog is essentially a journal I want to document the details here so I don't forget.

Audra saw the Genetics team at the end of June, and they recommended further genetic testing for her due to her constellation of symptoms/diagnoses...developmental delay, failure to thrive, short stature, hearing loss, malabsorption/pancreatic insufficiency, kidney reflux and possible immunodeficiency.

The specific blood test they ordered is new & expensive, and we were recently notified that our insurance company denied coverage of this test. They consider this blood test to be experimental.  So, I guess they think it's better to not know than to possibly find an answer for our little medical mystery child.

Then, last week, we were contacted by the Genetics research study team at CHOP.  Audra has been approved to participate in a research study that involves the same exact genetic testing that our insurance company denied.  This is both exciting and disheartening.

Exciting because she will get the recommended testing for FREE!  (Actually, they pay her with a $25 gift card as a thank you for participating)

but...

Disheartening because the fact that she has been approved to participate in this study means that there is significant concern that she does in fact have some type of genetic disorder.  They wouldn't just approve anyone for this very expensive study.

But, of course, we enrolled her.

Knowing is better than not knowing.

And the information that we could receive from this study goes way beyond solving the medical mystery of her little self.

The test is called:  Exome Sequencing and Genome Sequencing.

Usually genetic testing is isolated to just one or two specific genes where the doctor believes the patient's genetic disorder is located.  This test, however, looks at thousands of genes, all at one time.

So, while this test might hopefully give us an answer for Audra's current medical issues...it could also give us so much more!

It will tell us if she is genetically predisposed to certain diseases (heart disease, cancer, and many others).  It will also tell us if she is a carrier of a familial genetic disease gene that she could pass on to her children, such as cystic fibrosis, blood disorders, etc.

And, like the "cherry on top"...they told us that the genetics lab at CHOP still has some of Audra's blood saved from previous testing, so she doesn't need to have any blood drawn for this study!

No pokes,
No charge,
No problem...sign us up!

The catch??....

It will be 9-12 months until we get the results.

And so we wait.