Evelyn K.
Minnesota
Birth Date - June 23, 2007
Diagnosis - Pulmonary Hypertension, Restrictive airway disease, TBX4 gene mutation
Theme: Realistic Horses
Due Date: December 1, 2022
Evelyn's Story
Evelyn was born and within minutes of birth started to turn grey and not be able to breath. She was diagnosised with bilateral tension pneumothorax and was air-lifted to Children's Hospital in Minneapolis. The flight team arrived a couple hours after her birth and put a chest tube in on the right side to relieve the pressure. The left was not severe enough to require a chest tube. She spent 6 days in the NICU. They gave her a clean bill of health with no long term effects. At the time of discharge her breathing was still rapid (about 80 breaths per minute) and they said it is common with pneumothorax and it should resolve in one to two weeks. Two weeks came and went and the breathing remained rapid. It wasn't until six weeks old that doctors started to become more concerned and she was referred to specialists (pulmonologist first, then cardiologist). She had echocardiograms that showed severe pulmonary hypertension and enlarged right atrium and ventricle due to the heart having to work hard to pump blood to the lungs. No heart defects were found. She was given the diagnosis of primary pulmonary hypertension.
She travels out of state to Denver Children?s for her specialists annually and receives care between trips at Mayo Clinic Rochester. She has regular echocardiograms, pulmonary function testing, 6-minute walk studies, exercise tests, EKGs, and heart catheterizations. She has responded well to oral medications to treat her PH and her pressures are almost normal at the present time. Her heart size and function has also returned to normal. In 2017 she was diagnosis with TBX4 gene mutation (also known as small patella syndrome) and interstitial lung disease that does not fit into a known category. She has restrictive airway disease which causes her to only have 60% of normal lung volume. Her lungs are not normal in many ways, but she still manages to be active and live a full life, even if she gets short of breath easily and does not have the same stamina as her peers.
She rides horse, a passion that stated at the age of 5 years. She loves German Shepherds. She also plays volleyball and is the team setter. TBX4 impacts her lungs and lower limbs. She has small patella syndrome and manages her knee caps dislocating by wearing knee braces when active to help prevent her knee caps from popping out of place. She currently takes 12 medications and has supplemental oxygen as needed.
It is amazingly beautiful, beyond anything we ever expected! It certainly is a piece of art! Such talented people worked on her quilt. She loves it and sleeps with it every night. .
