Grateful for the DNA test she almost didn’t take

28 Oct
Lia is thriving on her special diet.

Lia is thriving on a low-copper diet.

Shortly after our daughter, Lia, was born I found myself sharing stuff with my hairdresser I hadn’t even told our closest friends. She’d just had a baby, too, and we talked about Lia’s delivery, which was so rough she ended up spending five days in the neonatal intensive care unit.

-1I also told her that in my first trimester my husband, Brian, and I took Counsyl’s Family Prep Screen and learned we’re both carriers of Wilson’s Disease. If left untreated, Wilson’s causes a poisonous build-up of copper in your liver, brain, and eyes. We were uncomfortable talking about it until we knew for sure whether Lia had inherited it.

When my hairdresser heard we’d done DNA testing she told me she never would. She said she thought you’d have to be okay with the idea of terminating a pregnancy to take a genetics test. I said I felt the same way.

“So why’d you do it?” she asked.

“It’s just extra bloodwork,” I told her. “And I wanted to know all I could for a healthy pregnancy. Plus we thought no way would my husband be a carrier since it’s such a rare disorder (our chances were 1 in 40,000). But – jackpot! – he is and we should have gone to Vegas.”

“Oh my god – so by doing genetic testing you really possibly helped the baby in case she has it?”

Then I told her why I was glad we’d done it. Without a DNA test we’d have had no idea Lia might have Wilson’s Disease because there is zero sign of it in our families. And it can take precious years to diagnose since it shares symptoms with lots of other diseases, including depression, hepatitis, and Parkinson’s – years when the damage caused by Wilson’s is building. Much of it is irreversible, which is why an early diagnosis is so important.

“Oh my god,” she said. “So basically by doing genetic testing you really possibly helped the baby in case she has it? Okay, I really should get tested before we have another baby.”

“Within four days I’d heard back from 30 experts”

About a year later we used Counsyl to get Lia tested. She has inherited Brian’s and my “bad” genes and cannot excrete copper. She risks liver failure, seizures, movement disorders, psychiatric problems, and many other things. Within a week after finding out I’d put together a spreadsheet of 25 physicians and researchers who know something about Wilson’s Disease and emailed all of them for advice.

Within four days I’d heard back from 30 experts – yes, five more than I’d contacted. Apparently it’s unusual to use DNA testing to diagnose Wilson’s disease. Since this is uncharted territory we’ve been overwhelmed by experts who want to help.

“I thought very seriously about stripping out our copper piping”

Lia, who’s 18 months old, is now on a low-copper diet (she needs some copper for growth) and takes liquid zinc twice a day to block copper. I thought very seriously about stripping out our copper piping but the town already sends water through pipes so it seemed like overkill. Brian and I did end up buying some land nearby and we’ll probably build a house on it with (PEX) plastic piping.

We’ll continue to use bottled water just to be safe. (Fortunately copper can’t be absorbed through skin or Lia would be taking some very expensive baths!) We’re told that because we had genetic testing done early, before any damage was done, Lia will probably never have any symptoms of Wilson’s Disease and live a healthy, normal life.

That conversation with my hairdresser was a turning point for me. I’ve become such a cheerleader for genetic testing and for Counsyl, which has continued to guide us on this journey. It’s scary to think I almost didn’t do it. Think what that could have meant for Lia. I tell friends there’s huge value in finding out early whether your child is at risk of inheriting a disease. Having that information might just mean you can get help to your baby that could save her.

-Lauren, age 38

 

3 Responses to “Grateful for the DNA test she almost didn’t take”

Trackbacks/Pingbacks

  1. Rare Diseases Are More Common Than You Think | Breaking US news - February 25, 2016

    […] Now that we have the means, medical organizations should be advocating for more thorough screenings. Couples planning a family have the right to know if they might pass on a rare disease to their children so they can make choices that are right for their family, such as finding a specialist, pursuing prenatal diagnosis or visiting with a fertility specialist. And in some cases, early identification can help avoid a medical odyssey and improve quality of life. […]

  2. Rare Diseases Are More Common Than You Think | A-Z BLAH! - February 25, 2016

    […] Now that we have the means, medical organizations should be advocating for more thorough screenings. Couples planning a family have the right to know if they might pass on a rare disease to their children so they can make choices that are right for their family, such as finding a specialist, pursuing prenatal diagnosis or visiting with a fertility specialist. And in some cases, early identification can help avoid a medical odyssey and improve quality of life. […]

  3. Rare Diseases Are More Common Than You Think « CauseHub - February 25, 2016

    […] Now that we have the means, medical organizations should be advocating for more thorough screenings. Couples planning a family have the right to know if they might pass on a rare disease to their children so they can make choices that are right for their family, such as finding a specialist, pursuing prenatal diagnosis or visiting with a fertility specialist. And in some cases, early identification can help avoid a medical odyssey and improve quality of life. […]

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