HLHS wasn't her only problem.

Jessica - posted on 02/10/2015 ( no moms have responded yet )




Found out my daughter had HLHS at 20 weeks pregnant. She has had her Norwood surgery at 3 days old and then her Glenn at 5 months old. Her first birthday is this week and we have recently found out by genetic testing that she has Kabuki Syndrome. So come to find out her heart problem came from this mutation along with being small having trouble eating still on NG tube (not that she doesn't try to eat) but the roof of her mouth is higher than most. She also has a lazy eye that sometimes gets stuck for a few seconds. She hasn't learned how to crawl or walk she try's so hard but another symptom of Kabuki is wake or bad hip and knee joints. Also sensitive skin water at any temp bothers her not once since she was born has she enjoyed a bath 😡 so sad. I'm telling you all this because other then ny daughter having high arches of the eye brows not one Dr diagnosed her with Kabuki or ever had any suspicions of their being another problem. So if you think their might be something they missed talk to a geneticist about some testing if they come back negative awesome but if you think their could be a possibility get it done. They take up to 10 weeks to results long wait and it sucked getting the call to come in and discuss her results heart break all over again. She had been thru so much and now more problems to overcome and we will thanks for listening.

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