We first noticed a “cloudiness” in Luca’s right eye in November or December of 2021. He was about 10 months old at the time and has blue eyes, so we thought it had to do with that and really didn’t think anything of it. As time passed, we would see the whitish glow when his eye hit light at certain angles. We saw it more clearly when we were changing him, and the overhead light hit his eye. Nothing made us think it was something serious, but we made an appointment for the following week with his pediatrician to check it out. My husband googled the white glow that afternoon and immediately called to tell me we needed to go to the Doctor’s office that day. We took him in on a Friday afternoon and the pediatrician dimmed the lights and did a red-light reflex test. She saw something as well and started making calls to Ophthalmologists at Dell Children’s. We couldn’t be seen until the following Tuesday and the weekend wait was agonizing. We saw Dr. Huong at Dell Children’s and confirmed there was a tumor in Luca’s eye. She said she was concerned it was Retinoblastoma and began making calls to Austin Retina.
The next day we saw Dr. Harper at Austin Retina, who took photos of his eyes and confirmed that it was, in fact, Retinoblastoma. He told us the tumor was covering enough of the eye that Luca most likely hadn’t had vision in that eye for a while. Everything moved very quickly from there. We are so thankful for the urgency Luca’s Doctors took to treat him. Two days later Dr. Harper performed an EUA and he had an MRI to determine our plan of action. The tumor was a large grade D and Dr. Harper recommended we remove the eye. He told us we could get a second opinion if we wanted, but our only focus was Luca’s life, so we scheduled the enucleation for three days later. Dr. Harper had also said he found a couple tiny flat spots in his left eye that he lasered to be safe. We were devastated because if there are tumors in both eyes, other complications and germline heredity become additional concerns
We went into the enucleation surgery the day before Luca’s first birthday. Dr. Somogyi with Texas Oculoplastics performed the surgery and was able to remove as much of the damaged optic nerve as possible and insert a spherical implant under the skin. It was a surprisingly quick procedure, and we were heading home a few hours later. The optic nerve was sent for testing to see if any cells had traveled past the eye as well as a genetic blood test. We weren’t anticipating the genetic results because we already assumed it was genetic. To our absolute shock the results came back negative.
We met with our Oncologist, Dr. Neff with Dell Children’s, and he went over our MRI results that showed there was no evidence of cancer anywhere else. At that time
, we didn’t plan on doing any chemo or other treatments besides EUAs every 6-8 weeks and MRIs every 6 months.
With our confusing genetics results we decided to seek out a second opinion. We were already treating Luca as if it was genetic, so nothing we would do would change the treatment plan, but it was important to us as parents to know, as well as give Luca all the information we could. We went to Houston Methodist to see Dr. Gombos who was highly referred to by our team here in Austin. I am again so grateful that so many Doctors from different hospitals wanted to work together to give Luca the best care possible. Dr. Gombos told us that the specks Dr. Harper saw on Luca’s left eye could have been many different things and that the blood test from the lab it went to was very accurate although of course not 100%. We wanted to be as sure as we could, so we sought out further genetic testing. Dr. Gombos took Luca’s case to a board of retinoblastoma specialists to review, and they sent us to Texas Children’s to meet with a genetics counselor.
We met with Dr. Potocki at Texas Children’s and were assigned a whole genetics team. Luca’s eye and tumor were kept in a paraffin block and Texas Children’s labs labs were able to do testing from it and compare their findings to his blood sample. They looked through every cell of the tumor, which took several months. They were able to find the exact cell with the mutation, which doesn’t always happen. All the genetic stuff still blows my mind. The mutation they found was the most common type, and they couldn’t find it in any of his blood cells. So as far as current science can detect, his retinoblastoma is not genetic! Finding this news was the best day we had during this process. We can breathe a little easier and we’re thankful for all the information we received from the process.
Luca is now 18 months old and has a prosthetic eye made by Craig Pataky at Austin Ocular Prosthetics which we call his ”special eye.” He wears the cutest little glasses to protect his seeing eye as well. This kid amazes me every single day. You would never know what he’s gone through by looking at him. He is a happy, rowdy, sweet boy and this has not held him back one bit. I am also really impressed at how straight he throws a ball every single time.
My husband Dante and I, my 3-year-old son Niko, Luca, and all of our family are so so thankful for the medical team we have and so grateful that we caught this when we did. We have felt the strongest pull to share his story in hopes of saving someone else’s baby. We are thankful for campaigns like Know the Glow that spread awareness, as we had never heard or seen anything like this before. It is our hope that some other family reads Luca’s story and finds their way to care in time too!