Brothers with Retinoblastoma

Story and photographs provided by Jeff & Jayme P.

 

Jamison (2)“We have two beautiful boys, and our story with Dr. Shields begins with our youngest, Jamison. On November 11, 2010, we were told that Jamison has bilateral retinoblastoma. It was a diagnosis that delayed by at least another three by us being unaware and another 5 months by his doctors. When we look at pictures we have a few of Jamison from 6 months on where his left eye is glowing. At his 9 month well-check I told the pediatrician that something was off with his left eye as it was beginning to drift out. The pediatrician told me to bring it up again at his 12 month well-check if it was still bothering me and then he would set up an appointment with a pediatric ophthalmologist. He was almost 14 months old by the time he had an appointment with an ophthalmologist and then 4 days later we flew to Philadelphia for an appointment at Shields and Shields. During his first EUA they drew blood to do genetic testing and collected saliva samples from us.

After 6 months of systemic chemotherpy at CHOP, and treatment in EUAs by Dr. Shields, Jamison was declared stable on April 13, 2011. He is extremely fortunate that he has remained stable since then. A toughfight from a little guy and two amazing doctors along with their teams saved Jamison’s eyes and some of his vision.

We also received unsettling news on April 13, 2011, Jamison and his Dad carry the RB1 mutation. Since we had a two year old at home, we knew the next step was to do genetic testing on him as there was a 50% chance that he also carried this mutation. In June we heard back from the genetic counselor, our oldest son, Cole, also carried the RB1 mutation. We were told to bring him to Philadelphia for an EUA at Jamison’s next Coleappointment.

We were reassured many times by many different doctors that Cole’s case would be similar to his Dad’s in that he would be a silent carrier. He was 3 years, 3 months old at the time, and had two or three local exams by the ophthalmologist who diagnosed Jamison and those were clear. In September we returned to Philadelphia for appointments for Cole and Jamison. On September 12, 2011, during Cole’s new patient evaluation, Dr. Shields told her team, “There is a lesion in his left eye,” as he screamed for me to help him. He was diagnosed with unilateral retinoblastoma. I was completely blindsided and had to muster up the courage to share the news with my husband who was playing with Jamison in the elevators. Dr. Shields and Dr. Leahey decided since we knew that he carried the genetic mutation and his eye was staged a B, systemic chemotherapy would be the best option.

Cole was so lucky with how his tumor responded, after only two rounds of chemo, he was stable. We were given this news with smiles on Nov. 9, 2011. He did have to complete his chemo, but we were able to do his last round locally at Palmetto Health Children’s Hospital in Columbia, SC. Dr. Shields and Dr. Leahey saved both of our boys lives.

For our family, we cannot encourage genetic testing more. It saved Cole’s life, and it also allowed him to keep great vision as his tumor was located at the edge of his retina. It was the best money we ever spent and completely worth every penny.

Cole and JamisonJamison is a happy, healthy three year old today, though he can be quite grumpy. He is curious about everything and loves being outside playing and getting into trouble. He does not like to be the center of attention in a crowd. Cole is vibrant, tenderhearted five year old who struggles with some chemo related side-effects, but is making wonderful strides with play and occupational therapy. They are gorgeous blond haired, blue eyed boys with beautiful smiles and amazing personalities. They light up any room they enter. The most wonderful thing, their cancer has remained stable. We are so blessed to be their parents.

I currently volunteer for Through Kyle’s Eyes Foundation. They are raising so much money for research and are devoted to finding a cure for retinoblastoma. I love reaching out to new families and trying to help them locate help they might need as well as being a person they can vent to who understands what they are going through.”

You can learn more about the Through Kyle’s Eyes Foundation here.