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Genomic testing gives hope to families like Anna

Meet Anna! Shortly after she was born, Anna began having choking episodes and had difficulty eating. Beth and Matthew Wakefield took Anna to meet with a geneticist, genetic counselor and several doctors and nurses at Children’s Minnesota St. Paul and received Anna’s diagnosis: Ring 21 Chromosome with Q Deletions – an extremely rare chromosomal anomaly in which she is missing a portion of her 21st chromosome. Read her full story here.

Anna had many follow-up doctor appointments and consultations, as well as one surgery. She started wearing glasses at 3 months old, and at 6 months old her doctor and parents decided that it would be best for her to have a feeding tube placed in her stomach. At 2 years old, Anna began experiencing seizures and last fall, Anna experienced her longest stay at Children’s yet. Anna spent over a month in the hospital for multiple hematomas in her digestive tract, which means she couldn’t tolerate her typical stomach feedings and constantly needed to have her stomach drained and her g-tube switched to j-tube feeding to bypass the hematomas.

“It was quite the ordeal,” says Anna’s mom Beth, “but we are thankful for the doctors, nurses, rehabilitation therapists, music therapists, child life staff and social workers that helped Anna and our family get through it.”

Anna is back to full strength today and is doing adaptive swimming lessons and will be heading to school this fall, but she will continue see several Children’s specialists and therapists. Because of the rarity of Anna’s condition, there are many questions, and not an abundance of answers.

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Rachel Patterson