Family Testimonials: Our Interview with Shaye

I’ve been a genetic counselor for 20 years. I’ve communicated with patients about hundreds of different genetic conditions to help them understand the significance of their results and to help lead them to the best next steps. All too often those conversations came after a years-long diagnostic odyssey during which parents sought answers to the symptoms they were seeing in their children. And too frequently those answers came too late to drastically alter the disease progression, or too late, period. While no one thinks their child will be the one to develop a rare disease, rare genetic diseases impact 3% of the population and I believe that if we have the knowledge and tools to identify babies and children at risk for rare genetic diseases early, spare those children and their parents, years of frustration looking for an answer and hoping for a treatment, we should.

I joined Nurture because I wanted to have an impact on health in a more proactive way. Nurture provides a healthy genetic screening for babies and young children to identify hidden health risks, early, along with the support needed to navigate the next steps. Follow-ups could include diagnostic testing, ongoing screening, and treatment, but every case is unique. Most importantly, with Nurture parents will not be left wondering what to do next.

With 3% of the population impacted by rare genetic disease, never did I imagine that our third customer would have a positive result.

I’d like to introduce you to Shaye. I had the privilege of speaking with Shaye after her two month old son, Pierce, tested positive for one of the 413 conditions on our screening panel. Shaye has graciously shared her family’s experience with Nurture on video. Please watch and listen or read the transcript below. Thank you Shaye!

Video Transcript for “Our Interview with Shaye”

Shaye: Hi, my name is Shaye and I am a mom of one boy. He just turned five months a few days ago.

Pierce was born healthy and with no signs of a genetic condition.

Shaye: When we made the decision to go with Nurture, we viewed it as this precious gift that we could give our son. This unique bird’s eye view of his his genome and something that would follow him and his medical record.

What happened with Pierce’s screening results?

Shaye: We were able to use these results almost immediately. Right before Pierce’s two month appointment, his pediatrician received communication from Nurture, received that lab report and was able to upload that document and update Pierce’s medical file to reflect that he has this condition called G6PD.

G6PD is a genetic disorder that affects red blood cells, which carry oxygen throughout the body.

Shaye: And during that appointment because Pierce was showing a few signs of a mild case of thrush, it was discussed, possibly putting him on an antifungal medicine.

Shaye: [Pierce’s pediatrician] pulled up a long list of information about G6PD and the medications that should be avoided. And he was very thorough to make sure that what he was prescribing was in no way going to cause Pierce’s G6PD symptoms to flare up. So I felt really, really fortunate.

G6PD symptoms may not manifest unless triggered. Common triggers include some medications, infections, and fava beans.

Shaye: And then as a new mom, you know, I would have had an incredibly uncomfortable infant and not even known why and where to start.

Shaye: It was honestly incredible how timely the information was. It was just like all these positive forces in the universe coming together.

How were you supported by Nurture?

Shaye: We were first time parents, there was so much on our plates and so so many stressors that we had. And so this process needed to feel like a helping hand rather than just something else we had to do, someone else we had to talk to, another email that we needed to send. Like it needed to feel like support in a deep and meaningful way. And it definitely did.

What would you like other parents to know about Nurture?

Shaye: We feel like nurture gave us peace of mind during a time that was just so hectic.

Shaye: It was really nice to know that we would be able to give our son this opportunity to have a view of his genome in a way that is so personalized.

Shaye: We do believe that precision medicine is going to be in the future a standard of care.