Harper
"Harper was born after a very normal pregnancy and all seemed fine but once she was placed on my chest, I knew instantly that something just felt 'awkward' with her compared to the experience I had only 20 months prior with big sister, Hayley"
Harper had perfect APGAR scores, but she was quite jaundiced. The midwives told parents, Michelle and Ben, that she wasn't jaundiced enough to need any medical treatment. It took a while to disappear because she was so lethargic and sleepy, she needed constant waking r to keep her feeding.
Her lack of feeding meant she wasn't flushing the jaundice out of her system. She was not putting on the required weight gains… If anything, she was losing weight due to all her feeding issues.
“She wasn't meeting any of her age-appropriate milestones, like sitting, crawling and walking so I spent a lot of time comparing her to what her older sister was doing at that particular age.
"Medical professionals, family and friends would always tell me not to worry, and that ’she will do it in her own time‘, but I just knew that this wasn't the case and that somewhere, something just wasn't quite right.”
By the time she was only 2 1/2 years old, Harper had already undergone many tests such as an EEG, a brain MRl, blood tests, metabolic testing, and a high-resolution chromosome test, to name a few, with all the results being within normal range.
They were then referred to the genetics clinic which identified two genetic conditions: HK1 gene, which makes an enzyme involved in glucose metabolism, and CACNA1E, which makes a part of Calcium channel in the central nervous system.
Both conditions are neurological and could lead to severe developmental and speech delays, intellectual impairment, vision issues but also seizures.
"To hear these conditions being described about your child by the geneticist was very confronting and overwhelming, devastating really. Harper was 2. ½ years old when we finally got some answers to some of the questions we had been asking her whole lifetime.”
Today, Harper has a lot of issues with feeding and her diet is made up of purees and soft mashes, but she is unable to tolerate any lumps or harder foods. She is still severely developmentally delayed and still cannot walk.
Despite all her ongoing problems and issues, Harper is the happiest little girl, with a smile that will warm your heart. She is a little social butterfly who loves hopping in the car to go somewhere, especially if it is to her Nanny & Poppys house. She always has eyes for her big sister and, in particular, her stuffed sloth who we call 'Slothy'.
“Some of our questions remain unanswered. With more research and investigation into these genetic conditions, hopefully we will get more information, some more answers, and hopefully one day, a cure.”