OHIA – 9 years oldRetrun to 22q Stories
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Our beloved nine year-old daughter Ohia was diagnosed with 22q at 17 months old. She was born on the island of Maui, a healthy and normal baby, but oddly she looked too perfect for a newborn. Ohia was named after a native Hawaiian tree bearing uniquely beautiful red flowers. The Ohia Lehua is a slow growing, but strong and resilient tree, one of the first life forms to grow out from a barren lava field. Little did we know how significant this name would be for our daughter.
Our journey began when Ohia was nine months old. She was falling behind in her developmental milestones, especially in gross motor skills. She was also not eating well and became anemic. At 12 months of age, Ohia was diagnosed as “failure to thrive”. To me this diagnosis meant a failed parent! I was scared and devastated, but determined to find out answers. After countless doctor appointments, and an unsuccessful diagnosis at the nearest children’s hospital, I finally had an appointment with a genetics doctor who would change our lives forever.
The first of many doctors finally had an answer and that was the diagnosis of Velo-Cardio-Facial Syndrome or 22q. I had tears of joy and already accepting to be a parent of a special needs child, but unfortunately we did not have any answers to her declining health. At 17 months old, she was only 16 pounds, the same weight she had been at nine month of age; and she’d remain the same weight until her second birthday. Sixteen is a number I will never forget.
After two months of her 22q diagnosis, I knew my baby was dying and not receiving proper medical attention from her Maui doctor, so we flew back to Kapiolani Children’s Hospital on Oahu. As soon as we arrived, they admitted her into Pediatric ICU. While Americans were mourning over the devastation of Hurricane Katrina, our daughter was fighting for her life. Two weeks later, after the discovery of her deadly esophageal varices (internal bleeding in the esophagus) and internal bleeding in other parts of her body, Ohia was medevac’d to Lucille Packard Children’s Hospital at Stanford in California. Ohia’s GI doctor thought she was suffering from liver failure, but Stanford discovered Ohia had portal vein thrombosis. Shortly after we arrived in California, Ohia had massive bleeding, basically throwing up blood. After many surgeries and blood transfusions during a 12 month period, her life was saved several times. A couple years later to discover, Ohia was born without a portal vein and according to the doctors, there has never been a recorded case like this before. I later learned from Dr Shprintzen vascular anomalies are common to 22q, but he also had never heard of a patient absent of a portal vein. A unique kid indeed!
The following year, Ohia was hospitalized again for malnutrition and a gastrointestinal virus, but didn’t require surgery at this time. Later, we discovered she had malabsorption issues due to Celiac Disease which was just recently diagnosed. In 2009, Ohia had the pharyngeal flap procedure with Dr.Shprintzen’s team in Syracuse, New York to correct her speech disorder, velopharyngeal insufficiency.
In July 2010, we planned a vacation to Salt Lake City to attend the annual VCFS Conference. We decided to come out a week before, to visit Yellowstone National Park, but only made it to Afton, Wyoming. As we were setting up our camp site off of a dirt road about 10 miles from the state highway, my motherly intuition kicked in again as it did back in 2005. Ohia was not feeling well for the last several hours and we thought it was carsickness from the long road trip, but I felt uneasy and decided to pack up our things and start driving up to Jackson Hole, WY where we would have medical assistance and phone service if needed. About an hour later, we were back on the main highway heading towards Afton when Ohia started to throw up blood. I knew she was suffering from portal vein hypertension again and her shunt had failed. A terrifying event I did not want to experience again! By this time we had cell phone reception and the 911 dispatcher lead us to a regional hospital in Afton where she received multiple blood transfusions until she was medevac’d to Primary Children’s Hospital where they saved her life for the third time.
Ohia spent the next two months hospitalized for several more surgeries, one being another shunt to control the portal hypertension by providing better blood flow through her digestive system. After returning back to Maui, I felt very uncomfortable knowing Hawaii had limited medical resources for Ohia. It was always a stroke of luck that Ohia was on the mainland during her major medical episodes. I was shocked to learn that Maui didn’t even have a blood bank and blood would have to be flown in from Oahu which could take up to three hours before a patient would even start receiving a transfusion. Maui was not meeting Ohia’s educational needs either, so we took a leap of faith and moved to Salt Lake City.
It has been two years since we moved, and even though it has been an adjustment, we are reminded every day this is a better place to raise Ohia and her new baby brother. Ohia is thriving and very healthy now. She enjoys school, horseback riding, dancing and skiing. She also is very creative and has become an amazing artist. Ohia recently submitted an art work piece, called “Crystal the Flying Unicorn” to the 2012–2013 Reflection Contest which won the best entry for 3D in the Intermediate Level (grades 3-5) for the entire Salt Lake School District.