Isabelle’s retinoblastoma journey, written by her mother Jeannie
Isabelle (Izzy) began life 100% healthy. She was thriving and hit every developmental milestone. The tests given at her pediatric visits were all normal, even a red eye reflex exam that was administered at her one year visit in February of 2023 was normal. There were no signs of any concern.
Around Izzy’s first birthday, I started to notice a strange glow in her right eye when the light hit it in just the right way. I noticed it on a few occasions and became concerned. I researched and found this could be a sign of either cataracts or Retinoblastoma (RB), cancer of the eye. I learned that it would be very rare for a young child to have cataracts so worried that this glow was signaling RB.
Living in rural Virginia, I began looking for answers with her pediatrician. Although the red eye reflex test was normal, my pediatrician did notice her eye turned outward and also noticed the glow when Isabelle looked in the light a certain way. He referred us to our local eye physician who also noticed the signs we were seeing. However, since this doctor was not specialized in pediatrics,Isabelle’s eyes were not dilated and a thorough exam was not given. We needed to see a pediatric ophthalmologist for thorough testing. Unfortunately the closest one was over two hours away and the earliest appointment we could get was six months later!
I called this pediatric ophthalmologist at Vistar Children’s Eye Center in Roanoke, Virginia, every single day for at least two weeks. I knew in my heart that there was something more serious going on with Isabelle’s eyes. After my persistence, we were finally given an appointment with a nurse practitioner.
Fairly soon after starting the exam on Isabelle, the nurse practitioner left the room and brought in the specialist, Dr. John Facciani. I knew instantly that my worry was justified. Dr. Facciani explained his concerns, Isabelle may have a cancerous tumor behind her eye (retinoblastoma). My sister was with us and as soon as he said “I believe it’s retinoblastoma, eye cancer.” I started crying. I rarely cry, and my sister knew it was serious. He referred us immediately to Duke University Hospital for further testing. Duke was 3 1/2 hours away from our home in Chilhowie, VA but was the closest hospital equipped to treat retinoblastoma.
Just five days later, Isabelle had an exam under anesthesia (EUA) by Dr. Miguel Materin. Dr. Materin confirmed the concerns of Dr. Facciani. Izzy was diagnosed with Stage D unilateral retinoblastoma of the right eye. She did not have any tumors in her left. He suggested we try a course of 3-4 rounds of Intra Arterial Chemotherapy (IAC). After the third round she was again examined. I was told that Isabelle had two large tumors and a lot of seeding in her right eye. Most of the tumors were calcified but one of the tumors was still growing and was intertwined with the optic nerve. Dr. Materin recommended enucleation, removal of the eye.
I felt the weight of this decision was too great not to have a second opinion, however I had exhausted all of the resources in our area. I found Dr. Jesse Berry, Director of Ocular Oncology at the Retinoblastoma Program at Children’s Hospital Los Angeles (CHLA) and learned that she could give an online second opinion. Being a single, working mother of four, this was a wonderful option for us. I sent Dr. Berry all our photos and medical records. After reviewing all of Isabelle’s charts, tests, and photos, Dr. Berry agreed fully with Dr. Materin’s recommendation for enucleation.
I decided against more chemotherapy. The risk was too great and Isabelle’s life was more important than the eye. In February of 2024, Isabelle had the surgery to remove her right eye.
Since then Isabelle is once again thriving! She is seen every eight weeks for an EUA to make sure there is no new growth in the left eye or right eye socket. She has had a clean report at each of these visits.
Isabelle is a very active two year old who loves to play with her three older sisters. We jokingly call her “mayhem” as she is constantly on the move, she’s a mini-tornado! She likes to climb and jump… she’s recovered amazingly! Her limited vision does not slow her down in the slightest!
I am so blessed and grateful that I pushed for answers for the signs I was noticing. I know all too well that if I had not listened to my mother’s intuition that Isabelle’s journey could have been much different. I hope that by sharing our story, other families will notice signs and push for answers for their children.
