The Amazing Genetic Frontier

Dear Family,

To some this is a story you have already heard. For others it is new. Please don’t take offense if I am just now clueing you in on our recent adventures.

When Ava was born, as is done with all children born in Utah, she underwent a basic 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 in Virginia, taking a few days with Mom and Dad after a business trip to Washington, DC, 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. The worst case scenario is that she will show mild symptoms. 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 should know, with more certainty, what to expect long-term.

In the middle of all this, Jodi and I decided to have a genetic screening performed for each of us to know where the mutations were coming from. We each have one of the mutations, meaning each of our children have/will have a one-in-four chance of receiving both mutations, as Ava did.

Our genetic testing looked for hundreds of common genetic disorders, not just those associated with Cystic Fibrosis. It turns out that I am also a carrier for Spinal Muscular Atrophy. I share this because each of my siblings is most likely also a carrier, and while most of you are done, or close to being done, having children, I feel it my responsibility to let you know that you may also be a carrier (as could your children be).

Spinal Muscular Atrophy is a disease in which certain nerves in the brain and spinal cord die, impairing the person’s ability to move. Called motor neurons, these nerves control our ability to sit up, crawl, and walk. There are five types, each with its own set of symptoms. The most severe cases result in a child’s death within 6-24 months of birth. Without both spouses being carriers, it is rare (1 in 2400) that your child will have this disease. Perhaps worth getting tested for, though, if you are still having children. The same caution applies to you being carriers of Cystic Fibrosis. Because I am a carrier (of the mild gene mutation), you could be, too. When combined with other Cystic Fibrosis mutations, it has the possibility of being expressed.

Through all of this we have felt the faith and love of those who have been aware, and the natural bonds of familial love and hope from everyone. I have been quite at peace through this process, and stand by, with faith, the blessing which I gave to Ava as part of her naming ordinance. Here is a snippet: “Ava, we bless you with health, with strength, that your body will be impervious to the sicknesses that will be all around you, not just now in your infancy, but as you grow and later in your teenage years and in your adulthood.”

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