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Rare Chromosome Disorder Awareness Week

Rare Chromosome Disorder Awareness Week

This unique celebration falls in early June every year. Is a rare chromosome deletion cause for celebration? I suppose it depends on how you look at it and how such a disorder affects you or someone you love. I hadn’t given much thought to chromosome disorders. I knew they existed, but I hadn’t delved much into their causes or various manifestations. When our second child was born, tiny but perfect, it didn’t occur to me that there could be something unusual lurking amid the tangle of her DNA. It wasn’t until our daughter was eight months old that concerns about her atypical development were confirmed. She had stopped feeding and was losing weight, there were some unusual physical traits, and the traditional milestones she was supposed to have achieved had not been met. After months of struggling to find help (doctors who saw Avery claimed she was fine and that we worried too much), the chromosome test results requested by our family doctor, our sole champion, came in. Avery was diagnosed with a rare chromosome disorder. And so there it was—our family’s new reality. Despite our suspicions, we were shocked and afraid, sad and confused by it all.   Avery’s[…]

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