22q11.2 Deletion Syndrome Case Study

Imagine if every person in the world was the same. No problematic situations in our genes. Unfortunately, that’s not the case for little Aidan. He was bought into the world with a blood sugar dilemma. At four months of age, he was brought to the hospital to repair mishaps. The quick glance when the mother saw little Aidan, she immediately had an alarming feeling. Her mother instincts detected something wrong with Aidan. When the doctors examined Aidan they discovered his back had a dimple and only weighed 20 pounds. He also had internal problems like low blood sugar. At a young age of four months, little Aidan had to get a surgery to repair his abdominal muscle. In the surgery the doctors also discovered some distinct facial issues that was the problem that they diagnosed was the reason why Aidan had feeding issues. While time passed by Aidan’s mother and his preschool teacher began to grow more and more concerned. They both noticed that Aidan was far behind with his developmental setbacks. Aidan’s mother decided to bring Aidan to numerous clinical and genetic specialists, they weren’t able to come up with a diagnosis for poor Aidan. Finally, they found a diagnosis, the 22q11.2 deletion syndrome. It can often be a fatal problem. 22q11.2 deletion syndrome appears when there is a missing section in one of the chromosomes found in the DNA. Contrary …show more content…
Present-day Aidan is ten years old. He is doing fine, he goes to a special school with an education based on a different curriculum. According to his mom, he is flourishing in school and he has been able to make a lot of friends. His mom also made a foundation for kids suffering from the deletion syndrome called, International 22q11.2 Foundation. From this day on his mother will always be supportive of him whatever the result of the future may be for