Sweet Dahlia was born full term, but only 3 lbs and 4 oz, despite full medical care the entire pregnancy. She had some heart problems, really bad jaundice, and lots of of other problems at birth. We were sent to San Francisco to a higher level NICU within a couple of days of birth, where they began to run all sorts of testing to try to figure out why she was so tiny. Ten days after her birth, the genetic team introduced us to Williams Syndrome, a rare genetic syndrome due to a deletion of approx 25 genes in the 7th chromosome. It occurs in approx. 1:10,000 births at random. Dahlia deals with sensory processing disorder as well, hypercausis, hypercalcemia, apraxia of speech and severe speech delay, hypothyroidism, along side being extremely friendly (and lacking any sense of stranger danger,) and having a passion for music that is very common in WS. She is a great friend in a fully inclusive classroom, a sweet big sister and has an amazing laugh and smile. She has recently become a bit of a jokester even!
This is wonderful. I am curious how much you were able to benefit from genetic counseling, https://fdna.health/, services as a part of your diagnostic journey. It seems accessability to genetic counseling services are not improving, as we all hoped they would, and demand is high in many areas, even in those with what seems like a large network of counselors.
Her shining personality comes through that smile. What a beautiful girl.