Jack's story
May 14, 2016
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My son jack was born in 2001, he was my first child and I had a pretty normal, stress free pregnancy until my 26 week check up. His heart rate was slow and my tummy hadn't grown for a few weeks. Nothing to worry about according to the midwifes but they would monitor me closely for the rest of my pregnancy. Fast forward to "labour" day, my waters semi broke in the early hours of the morning but I wasn't contracting I headed into hospital mid morning feeling pretty good, baby's heart rate was still "slow" so they put me on the monitor things progressed well and after a few hour and a few super low heart rate moments I delivered a healthy 7lb1oz baby boy. All that changed the next day when the doctor came in and informed me my baby had a heart problem but they didn't know what sort. They flew us off to the Royal Children's hospital in Melbourne Australia and confirmed our son had a "rare" condition called Long Qt syndrome he was borderline but couldn't ignore or not treat it. So at 6 days old he was put on beata blockers. For the next 12 years we had test after test after test he wasn't a candidate for genetic testing due to the "borderline" results he was showing and the ridiculous $10,000.00 cost of the test meant that we couldn't afford to do it ourselves. Thanks to an awesome electrophysiologist and huge scientific improvements last year he was genetically tested and confirmed to have the KCNQ1 gene mutation. He's now 15 years old and takes a daily dose of beta blocker and lucky for us is still a happy healthy boy who has never had an episode or displayed any obvious signs or symptoms of Long QT.
3 comments
What an encouraging story. Is KCNQI the same as Lqt1? Sorry for the ignorance but my 5 year old has LQT1. We are in South Africa, Cape Town. He has had two syncopies both in the pool. He is now on Beta blockers and all has been well. What Beta blocker is he on?
Commented 7 years ago Candice 10
KCNQ1 is the gene type which you find out after having genetic testing done. Thank you for sharing your uplifting story! I feel like you only hear the horror stories.
My youngest (now 14 months) was diagnosed at birth. 5 months later due to genetic testing my oldest (now 3) and I were diagnosed. Our little one saved our lives.
Commented 7 years ago Heather Malloy 10
My daughter is exactly the same story seh eill be 15th tomorrow she has lqt10 with no symptoms with pacemaker and propanolol 1¿80 mg a day
Commented 7 years ago Claudia Diaz 30
