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Henrik (Hank) looked every bit like a normal boy, yet there were telltale signs of differences. Over his first few years he experienced developmental and growth delays and as he grew, he wasn’t understanding social queues. Eventually he was evaluated for autism, but he didn’t meet the qualifications, although he was diagnosed with ADHD and anxiety. As the years went by Hank’s behavior was deviating more and more from his peers and his family continued to seek help to no avail.
After much perseverance, Hank and family were finally connected to Mayo in Rochester who worked with the family to gather 16 years of Hank’s medical records. Once the team at Mayo had Hank’s records, they met to review the case to determine which specialists to see to help determine a diagnosis. In Hank’s case, the family met with a psychiatrist who felt that Hank was on the autism spectrum, even though he was fairly high functioning.
The Mayo team also suggested having a genomics test although warned the family that they rarely see anything out of the ordinary as a result of the testing. Hank and his family decided to proceed with the genomic testing with surprising results. When the family met with the doctors at the Mayo, the found that Hank had Chromosomal mosaicism- 45,X/46,XY. Although no name for males- this mosaicism is called Turner Syndrome for females.
With Hank’s diagnosis in hand, his family was able to get a plan from a medical and behavioral perspective. He is able participate in a day treatment to help him with his social skills and continue to track his Medical, Behavioral Health. The family has also been connected to other families that have kiddos with rare disease/disorder through a local organization which has allowed them to feel less isolated and alone on their journey. The experience has been life-changing for both Hank and his family. They no longer feel that they are going to down a black hole trying to find answers to help their Hank. This program helped them get connected with the medical team at Mayo that helped them get the answers for Hank. This has also open doors for Hank and family to be connected with the best medical team and outside support for Hank. ’We are so grateful that we did not give up and kept searching to find answer. Our outlook on life for Hank was once filled with a lot of uncertainty now uncovering this new found diagnosis the outlook on Hank’s life is so much brighter…”
