The story of Tessa
Bobby was born at 28 weeks. After everything was brushed off as premature. Then I looked at other parents of premature infants and said, no I disagree. I was met with help & walls from different ends. After 3 long years we got his genetics back. Variant on gene NKX2.1. Geneticists agreed this is why he had so many lung issues & delays. While he does have an autism diagnosis as well, we are unsure given brain-lung-thyroid syndrome is new even to most doctors. He is the first patient atbhis geneticist to have the diagnosis. He spent his first 16 months on some type of oxygen support. He walked by 2 years old and started jumping at 4. He is just starting to talk. He loves blues clues and hugs from his mama and dada. Bobby is proof to trust your gut. If someone tells you you’re wrong but every inch of your body, mind and soul is yelling out you’re not, you’re probably not.Â
Bobby will actually be an inpatient on rare disease day recovering from a surgery to hopefully help his sleep apnea and overall breathing!