After her birth, Scarlett was home from the hospital less than 12 hours before we brought her back due to her lack of feeding and a sense that ‘something was not right’. She was immediately transferred by ambulance to a children’s hospital as she was hypertensive. Her heart condition (completely unrelated to her genetic condition) was instrumental in her Branchio-oto-Renal Syndrome (BOR) diagnosis. At first, she presented with Chronic Renal Insufficiency and we were being prepared for the possibility of dialysis and eventual kidney transplant. But something still felt wrong; like there was more to her condition.
I saw little pits or holes by her ears and then on her neck. Doctors and nurses found it strange but never investigated. I then found little holes by her tear ducts and thought, something is wrong and continued to point out my poor child full of holes to everyone who would listen. It wasn’t until the genetics department got involved that the strange constellation of symptoms were diagnosed as BOR. We were told she likely would not hear or have substantial hearing loss. We were told she would need a kidney transplant. We were told she would need a series of surgeries to correct her branchial cysts and holes in her head and neck. We were also told she would need heart surgery.
Scarlett is 6 months old now. She has defied the odds and has normal hearing. She does have Chronic Renal Insufficiency and substantial branchial arch concerns which have resulted in her being fed by g-tube but she is holding on. We don’t know her exact trajectory or what her life will be like, but we do know that she will continue to fight.
And now with stage three Kidney Disease as a result of her Branchial-Oto-Renal Syndrome, we are told she will need a transplant by the time she’s a teenager. Scarlett will be undergoing surgery to remove the branchial cleft sinuses in her throat as well as a cyst in her throat. Another surgery to close over the lacrimal ducts by her eyes.
She’s a happy baby whose made leaps and bounds with her developmental milestones. We were told it would take her a significantly long time to meet basic milestones because she’s smaller, weaker and has less endurance than children her age but she’s achieved rolling over, crawling and pulling herself up to the astonishment of her therapists.
Scarlett also maintains normal hearing (less than 5% of children like her have normal hearing). To know your child hears your voice and responds to you is such an emotional and beautiful feeling I took for granted with my first born. BOR has such a variability with expression but our Scarlett continues to blow through achievements never thought possible from her doctors 🙂
I urge all parents to follow their instinct and keep pushing the professionals if you feel as though something is wrong. Otherwise, we may have never known Scarlett has BOR, that I as the mother was the carrier for this gene and now, our entire family is being tested. Scarlett, in this regard, may just have saved other members of our family who could be struggling with renal, hearing and branchial issues which often present as asymptomatic.
You can read more about Team Scarlett, which is dedicated to helping the causes close to our heart that impact the life of our daughter, Scarlett Grace.