Understanding 22q | Cincinnati Children's скачать в хорошем качестве

Understanding 22q | Cincinnati Children's

For Robin Gramke, her pregnancy was a healthy, happy one. The delivery that followed of her baby girl McKenna also went smoothly. “She was born in the morning on a Monday, she came out crying, what normal babies do," said Gramke. It wasn’t until they were getting ready to be discharged that a doctor raised a red flag. “The in-house pediatrician did his final assessment on her and heard the heart murmur and came to us and said, 'I listen to 30 to 40 baby’s hearts a day. This is what I do. I do not like the sound of McKenna’s heart,'” said Gramke. Robin took her daughter to Cincinnati Children’s where doctors diagnosed her with several heart defects putting her on the fast track for genetic testing. The results showed McKenna has a deletion syndrome called 22q. 22 referring to the chromosome meaning anywhere from 40 to 70 genes are missing because of the deletion. “It affects everyone differently in the sense that you don’t say because you have this condition you will have all these symptoms but within it there a lot of things very similar. It’s comprehensive, it kind of messes with every system of the body. It affects different things at different times of life," said Cincinnati Children's genetic counselor Bettsy Leech. For some babies and young children, 22q impacts the heart. At 8 days old, McKenna needed her first open heart surgery. Complications followed and a second heart surgery took place at 25 days old. Airway problems and feeding issues meant more surgical procedures were needed in her first year of life. Adding to the worry and stress, Robin learned the results of her genetic testing. She was surprised to find out she also has 22q but the symptoms are less severe. “As a mom, I blamed myself for her issues. You do go through and assess everything you have done when you were pregnant, did I not take my prenatal vitamins, did I drink a Pepsi, I probably shouldn’t have, you beat yourself up. All of her doctors did say, 'This is not your fault, you didn’t do any of this,'” said Gramke. Robin came to a level of peace through support from McKenna’s medical team and genetic counselors at Cincinnati Children’s. “It’s about helping people take scientific and medical knowledge and information and incorporate it into their lives and their hearts and their minds. None of this happens in a cold clinical way when it’s your child, your health. So helping people work through the things that go with the diagnosis is what genetic counselors do," said Leech. Mckenna is now 18 months old and her health is improving. She takes daily medications and needs physical and occupational therapy to help get her strength back after the long hospital stays. While 22q will continue to present challenges and follow McKenna through her life, her mom says her little fighter is in a good place. “It’s literally one day at a time and don’t give up hope,” said Gramke.