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The Salty Babies Died Young

Jamie Kostialik, MS, CGC shares her story of how her sister’s diagnosis helped motivate her decision to become a genetic counselor.

A Big Year

What turned out to be two monumental events for my family happened in 1989.

First, my little sister was born. Second, the gene for cystic fibrosis (CF) was discovered.

These seemingly unrelated events turned out to have a very direct connection.

The Cough

In 1997, when she was eight years old, my sister developed a persistent cough. My mom took her to a pediatric pulmonologist. She remembers the doctor saying, “There’s a condition called CF. There’s a 99% chance she doesn’t have it, but we’re going to test for it to rule it out.”  

CF is a genetic condition that causes a thick, sticky buildup of mucus in the lungs, pancreas, and other organs. This causes recurrent lung infections and an inability to break down food and absorb vital nutrients properly. CF is caused by mutations in the CFTR gene and is inherited in what’s called an autosomal recessive manner.  

Every person has two copies of every gene, one from their mother and one from their father. People who have one normal copy of the CFTR gene and one copy that has a disease-causing change, or mutation, are called carriers. Both genetic parents have to be a carrier for CF to have a child with the condition.

If both parents are carriers for CF, each of their children has a 25% chance (1 in 4) of having the condition. Carriers usually have no symptoms, so my parents had no way of knowing when they were growing our family, that they are both carriers. And that doctor had no way of knowing that my sister’s chance of having CF was actually 25%. Then, the test results came back and CF became a big part of all of our lives.

CarrierScreen
For recessively inherited conditions such as cystic fibrosis, if both parents are carriers, each of their children has a 25% chance (1 in 4) of having the condition.

Old-world Wisdom

After my sister’s diagnosis, my mom had the difficult task of letting our family know about their chance for also having children with CF. No one had ever heard of there being anything like this in the family.

Well, almost no one. When my mother explained CF to my great-grandmother, she mentioned the test that had been performed to evaluate the salt concentration in my sister’s sweat. An unusually high level of salt in the sweat is a sign of CF.  Great-grandma replied bluntly, “The salty babies died young.”

Shocked, my mom asked her to explain what she meant. Great-grandma told her how back in their little village in Italy, her elders kissed the young babies to see if their sweat was salty. If it was, they knew those babies were sick and would not live long.

A Different Time, A Different Outcome

Whereas in my great-grandma’s memory there was no hope for “the salty babies”, by the time my sister was diagnosed with CF, the condition was pretty well-understood and there were actually ways to help kids live longer, healthier lives.

It wasn’t easy, but my mom became a relentless advocate for my sister’s health.  She made it her job to keep my sister from getting sick in order to preserve her lung function, which could be permanently damaged by viral and bacterial infections that liked to take hold in the thick mucus caused by the disease.  She found a specialist to help my sister gain weight, which was difficult because of problems absorbing nutrients. She kept up a strict protocol of chest therapy and even held a fundraiser to help my sister get the latest in vest technology to keep her lungs clear.

My mom also enrolled my sister and the rest of our family in a research study taking advantage of another advance: the ability to sequence that gene that had been discovered back in 1989.

65 Roses

A month after my sister was diagnosed with CF, I was starting 5th grade and taking it upon myself to read the book Mallory’s 65 Roses (say it out loud) to anyone and everyone who would listen. The kid-friendly book takes you through the day of a little girl named Mallory, who has CF. I now knew about CF and I thought everyone else should too.  This was happening to my sister, this was important.

But I don’t think the full impact of CF became clear to me until my own genetic testing results came back.  All this time while we were learning about my sister’s disease and getting all of our genes tested, it hadn’t really occurred to me that I was at risk.  But it sure did occur to my mom. The day my results came back showing that I was a carrier, but not affected with CF as she had been fearing, my mom broke down in tears.

A Calling

The genetic counselor in me was born the day my sister was diagnosed. Her journey and the journey of my entire family made me appreciate the importance of knowing your genetics, being an advocate, and educating your community.

Once my mom found out that my sister had CF, she was able to take action and do her best to keep her healthy.  Had she known earlier, she may have been able to get my sister treatments sooner. She also would have been able to prepare herself and our family more for the challenges that arose. I became a genetic counselor in part so I could help other families get information about CF and other similar conditions so they could use that knowledge to do what was best for their family.

During this month of May, which is Cystic Fibrosis Awareness Month, I reflect on the fact that in less than 30 years, the CF community has gone from discovering CFTR, to making carrier screening for CF offered to everyone who is pregnant or considering becoming pregnant, to having drug treatments based on the specific mutations an individual has. It is remarkable, yet, there is still so much to be done. Learn more by visiting the Cystic Fibrosis Foundation at cff.org.

People have been wondering about and trying to explain their family histories for generations. While my family didn’t have the complex genetic tools we are fortunate enough to have today, they used their own methods to try to learn more about the health of the family. Never could my ancestors have imagined the impact CF and genetic screening would have on our family. The power of genetic screening allowed my family to learn that my sister’s husband is not a carrier for CF. On the day my sister gave birth to my healthy nephew, I was never more grateful for being able to have this knowledge.

Jamie:sister
Jamie (right) with her sister (left).

 

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