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“On an evening in November 2021, our 1-year-old son, Patrick, fell backward off the couch while playing with his siblings. I was at work, and Patrick’s father, James, was home with the kids. James said Patrick wasn’t crying after the fall and seemed fine. The next day, Patrick was complaining of pain so we brought him to the ER where they ran multiple tests.
During a skeletal scan, the ER physicians informed us they had found two rib fractures that were ‘at least two weeks old.’ We were baffled. Patrick had never complained of pain until that day, much less over the last two weeks. He also had no bruising to indicate any injury. He had even been in our pediatrician’s office the Friday before entering the ER.
They admitted us to the pediatric floor that night. I stayed in the hospital with my son while his father went home to care for our other two children.
The following day, the child abuse pediatrician informed me that my son‘s compression fracture would have required the force of a 15 ft fall in a HEALTHY child. She told me James was responsible for these injuries because he was home with the kids while I was working. She took pictures of Patrick and indicated that he had petechiae on his forehead, which was actually a birthmark he has always had.
I was instructed to follow up at the Child Advocacy Center 10 days after discharge, in which my son had to undergo another skeletal scan. At this appointment, I discussed the possibility of a medical cause for his injuries. The child abuse pediatrician laughed at me, stating ‘There is nothing genetically wrong with this child. The only reason that your kids are even home with you right now is because I respect you as a nurse and I went to bat for you. It would be in your best interest to divorce this man and never look back.’
As an RN, part of my job is to advocate for my patients to ensure they receive the proper care, which often includes going head-to-head with doctors, so I decided to have my son genetically tested at a different children’s hospital in Pennsylvania. It took us from November 2021 to February 2022 to get an appointment with genetics at the children’s hospital.
During the waiting period for Patrick’s genetic results, the DA pushed to have James charged and incarcerated. James remained in the correctional facility for approximately 45 days while we waited for the genetic results. In January, my children were removed from me and placed with my parents. I felt the reasoning for this was because my push for genetic testing was viewed as defending James.
In April of 2022 we received the results of our son’s genetic testing stating that he had an abnormality of the COL1A1 gene, indicating Osteogenesis Imperfecta Type 1, also known as Brittle Bone Disease. Our attorney was able to get James released from jail that same day. However, the case remained active until the charges were officially dropped in May 2023.
No stone should be left unturned when investigating cases like ours. Families do not deserve to be torn apart over a genetically inherited disorder. I am very worried about families who may not have the medical knowledge and training I have and, therefore, are disadvantaged throughout this process. Our situation could have been avoided with a blood test or even a simple cheek swab. Our family is broken and struggling to pick up the pieces after a medical misdiagnosis that cost us everything.
Today, Patrick is being followed by the children’s hospital’s Genetics and Bone Health teams, and he’s getting the medical care that he needs to help prevent and treat fractures as he grows. He is a happy and outgoing little boy who smiles through everything. I am eternally grateful to the genetics team, who listened to me and helped get Patrick the medical care he needs.”
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