Sunday, March 9, 2014

Ava's Journey with Genetics


To some this is a story you have already heard. For others it is new.

When Ava was born she underwent a routine newborn screening looking for common diseases. This test was performed twice, and to our surprise, the results for the second test were the same as the first: indeterminate for Cystic Fibrosis. Her blood samples were then sent on for further genetic testing.

While I was away on business, Jodi received a call from the genetic specialist at Primary Children’s Medical Center in Salt Lake City. It was revealed that Ava has two specific genetic mutations associated with Cystic Fibrosis, and she needed to be seen at Primary Children’s right away for further testing. I bumped up my flight, and returned home as soon as I was able so I could accompany Jodi and Ava to the hospital. There Ava underwent a Sweat Chloride Test, the “gold standard” for diagnosing Cystic Fibrosis for more than 50 years. During the test we met with a genetic counselor to learn more about the genetic mutations, possible scenarios, and next steps. Honestly, we left with more questions than we went in with.

The Sweat Chloride Test: Use electric current and chemicals to stimulate the sweat glands in the arms, collect the sweat, and measure the salt content. People with Cystic Fibrosis have a higher concentration of salt in their sweat.
The results of the Sweat Chloride Test were borderline between being classified as a carrier, and having mild symptoms, which led to another visit to Primary Children’s four days later for a meeting with the pulmonologist and further testing to better understand the specific nature of the genetic mutations to give a more accurate diagnosis. Blood was drawn, questions were answered, and we were on our way, still very uncertain as to what the future would bring for our little Ava.


After two long weeks, the results finally came in. We knew Ava has two genetic mutations associated with Cystic Fibrosis: one severe mutation, and one mild mutation. The additional testing showed that the severe mutation is such that it could express itself mildly, and the mild mutation is such that it could express itself moderately. What does this mean? Though there is still much we don’t know, we do know it means that she should never exhibit full symptoms of Cystic Fibrosis. So far it seems that the worst case scenario is that she will show mild symptoms, while it seems the best case scenario is that she will be classified as a carrier, and never exhibit any symptoms. We will be back at Primary Children’s in another few months to again have Ava do the Sweat Chloride Test, where we hope to know, with more certainty, what to expect long-term.


Through all of this we have felt the faith and love of family. I have been quite at peace through this process.

We wanted you all to know about the adventures we have been having. We are full of faith.

2 comments:

Kristie said...

Oh my. What faith. And what a strong family you have. Good luck with future testing. She is adorable!

Denise said...

Geez. I know so many people whose babies have CF now. Prayers for little Ava as she grows up.