2017 - Baine Brady Bobka
Descendant of Alice Wright Earl Davies
OTC defect confirmed 2017
Genetic Defect Identified
Two years prior to his death, Baine lived with frequent stomach pain, throwing up, and headaches. These episodes would appear in the middle of the night or on the bus coming home from school; never in the morning.
During his episodes prior to 2017, Baine was able to eat and drink even when his stomach hurt and he was throwing up. He was allowed to eat snacks during the school day; when he drank juice, ate granola bars and pop tarts, the episodes decreased. Pediatrician visits were inconclusive and suggested possible causes were related to food allergies or not eating enough.
In 2015, Bain had his first visit to the ER due to sever stomach pain, which resulted in a misdiagnosis of appendicitis. Baine’s final crisis started with stomach pain and throwing up with flu-like symptoms. Due to the onset of a coma, he was airlifted to Primary Children’s Hospital. Test results revealed ammonia levels measuring over 300, a key factor to an OTC deficiency diagnosis.
Dr. Longo, pediatric geneticist, explained that the diagnosis of OTC is based on the possibility of a genetic X-link mutation that comes through the mother. Baine’s maternal grandmother identified two cousins and her brother who had died with similar symptoms. 2018 - Gene sequencing technology became available that provided information of the entire DNA molecule of our family’s mutated gene. Further blood tests identified the markers on the gene and pinpointed where the defect is located. As a result, Jane Wright Earl was medically recognized as the family proband—or the starting point for the genetic study of our family’s OTC deficiency.
Because of Baine, the treatable Jane Wright Earl family chain of OTC deficiency has been medically identified as c-106C.A.
Baine’s great-grandmother, Audrey G. Hutchinson, has 3 children who are all OTC positive. Her family also includes 9 grandchildren and 26 great-grandchildren. Fifty-five percent of her grandchildren are OTC carriers and twenty-three percent of her great-grandchildren are OTC carriers. Because of the gene sequencing technology and GETTING TESTED, all the descendants of Audrey now know their status and will not be victims of the “silent killer”.
Previous years provided no warning of a genetic deficiency and those who have tested OTC positive struggle with the new symptoms and illnesses. However, what may have seemed unfair in the past is now contrasted with a hopeful future that can help Bain’s family, and his great-grandmother’s posterity, for many future generations to come.
There is a reason and a purpose for everything and Baine’s death is part of the awareness plan for a family genetic OTC deficiency that is treatable. Living with our family’s specific OTC deficiency will require a greater understanding of the symptoms and the importance of being tested for our family’s genetic defect.
Note from Kelsey Bobka, Baine’s mom:
No mother should ever have to go through the death of a child. As Baine's Mom, there's been a lot of guilt due to Baine's death and I wonder why I didn’t know about our family’s OTC deficiency. It’s been a comfort for me to talk to other Mom’s who have gone through the same thing.
I’ve been blessed with the best. Everyone has been awesome, and even if you think you haven't helped or helped enough, I'm here to tell you that you have! Thanks for helping us fight Baine's fight. Even if he's not here, I will continue to pass his Legacy on. I know we can't save everyone, but is it too big of a dream to try!
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