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When 14-month-old Luke McDermott was diagnosed with retinoblastoma, his doctor told Luke’s parents that he would try to save the baby’s life, eye and vision. “That’s the order,” he said. “If we have to, we will remove his eye to save his life.”
A Smilow Cancer Hospital team was able to save all three, using an innovative treatment that delivers cancer-fighting drugs directly behind the eye where the tumor was located. Supraselective intra-arterial chemotherapy (SIAC) requires doctors to navigate arteries about the diameter of a strand of hair. Smilow is one of only a handful of hospitals offering this modality of delivering chemotherapy for retinoblastoma in the U.S..
The painstaking procedure can offer tremendous benefits, explained Miguel Materin, MD, director of ophthalmic oncology at Smilow Cancer Hospital. There are not many ophthalmologists who specialize in ocular cancer treatment, like Dr. Materin. He estimates there are about 300 such physicians in the world.
Though survival rates for retinoblastoma in the developed world are above 90 percent, traditional treatments could involve removal of the eye, systemic chemotherapy, radiation and others. Supraselective intra-arterial chemotherapy can successfully treat a retinoblastoma so that the eye can be saved. It also can render radiation unnecessary sparing children the long term consequences of radiation treatment. Retinoblastoma typically affects children under the age of two, for whom radiation holds dangerous long-term consequences. Side effects for systemic chemotherapy – which circulates throughout the body as opposed to SIAC, which is delivered directly to the eye – can be severe in the short-term and include possible long-term risks.
Retinoblastoma is usually diagnosed after a parent notices leukocoria, a reflection from the retina that make the pupil appear white, or when a child becomes cross-eyed. In Luke’s case, his mother noticed one of Luke’s eyes crossing at times. “It’s probably just a lazy eye,” Ashley McDermott thought. But when she called her pediatrician, he told her to take the baby to a pediatric ophthalmologist. The ophthalmologist saw a mass in Luke’s eye and referred him to Dr. Materin.
Once a child is referred to the ophthalmic oncology program at Smilow, things move quickly. “We try to start the treatment within a week,” said Dr. Materin. “It’s a serious condition because it’s a cancer and it can cause blindness too.” The speedy response is also designed to make a difficult period of waiting as short as possible. “The anxiety of the family is very, very high,” he said.
About 40% of retinoblastoma cases are hereditary, so genetic counseling is arranged for the patient’s family. “We feel very confident that Luke doesn’t have the germ line mutation (the hereditary form of retinoblastoma),” Dr. Materin said, based on Luke’s age and other features of his tumor. Nevertheless, Luke’s parents, brother Jack, 5, sister Cynthia, 3, and eventually the baby Ashley is carrying will all be tested for the mutation associated with retinoblastoma.
Within 48 hours of a referral, Dr. Materin will examine a child under anesthesia and have a brain MRI done. Following diagnosis, he’ll meet with a family and go through the treatment options with them. The goal, of course, is to avoid radiation and eye removal if possible. There are several different chemotherapy delivery options. Some centers have strict preferences for a particular method.
“Here at Yale, we talk to the family. We spend a lot of time explaining the pros and cons of treatments. We give them our opinion,” Dr. Materin said. “We decide based on each patient.”
Though speed is critical, Dr. Materin is conscious that parents are bombarded with information and faced with hard decisions at an already stressful time. “It’s terrible,” he said. One way he offers support is by connecting parents with families who have already been through the experience. Also, we offer family support through Dr. Andres Martin, director of pediatric and adolescence psychiatry at Yale, and his team.
Justin McDermott, Luke’s father, recalled his shock on learning that his happy, active baby had cancer. “We really didn’t believe it at first,” he said. A high school teacher, Justin had to call his principal to say that he wouldn’t be able to make a scheduled parent-teacher conference. “I was crying,” he said. “That’s when it really hit me.”
“I really thought it helped a lot for us to be able to talk with another family,” Justin said. Dr. Materin said that families always agree when he asks them to reach out to parents just beginning the process. They’re eager to help each other. In fact, one family even started a foundation, Specs for Little Heroes, that helps when parents cannot afford the protective eyewear children may need after treatment.
Families are supported not only by each other but by a large medical team. When intra-arterial chemotherapy is delivered, up to 10 clinicians can be in the operating room, a state-of-the-art operating suite with biplane angiography, microsurgery, and MRI capabilities. This can all be done in one room without ever having to move the patient.
A pediatric anesthesia team will administer anesthesia. Next Jeremy Asnes, MD, a pediatric cardiologist, does the precise work of accessing the child’s delicate femoral artery, which is at the groin. Then neurosurgeon Ketan R. Bulsara, MD, is tasked with threading the catheter up to the ophthalmic artery.
As Dr. Bulsara calls up images of Luke’s procedure, the extremely delicate nature of this work is clear. A scan of Luke’s skull shows that this is clearly a baby. “The smaller the vessel, the higher the risk of injury of the vessel,” said Dr. Bulsara. He has three key assets to help him through the precise work: his equipment, his team, and his training. The imaging technology available in the unique operating suite at Smilow Cancer Hospital gives him real-time guidance. A team of doctors, nurses and technicians monitors the procedure and can warn him if anyone spots a danger. Finally, Dr. Bulsara is among a handful of neurosurgeons in the world who is dual fellowship trained in both skull base/cerebrovascular microsurgery and endovascular neurosurgery. He came to Yale because of the commitment the institution made to do “world-class surgery in a world-class environment” in both the endovascular and microsurgical realms.
Once Dr. Bulsara reaches the optic nerve, a dye is injected to make sure there is no spillage into the vessels supplying the normal brain. Then chemotherapy drugs will be delivered for about half an hour. After one treatment, Luke’s tumor shrank significantly. He needed only one additional treatment. Patients with larger tumors typically require more sessions.
The team recently published an article in the Journal of Neurointerventional Surgery where they established for the first time through MRI imaging that drugs used in intra-arterial chemotherapy are delivered directly to the tumor via the ophthalmic artery, . This was always the goal of the treatment, but the Yale team offered the first tangible proof using the unprecedented capabilities of the novel operating suite in Smilow Cancer Center.
Delivering chemotherapy drugs only where they are needed means that children are largely spared from side effects, said Farzana Pashankar, MD, the team’s pediatric oncologist. She sees a potential to expand the program to serve more children. Currently supraselective intra-arterial chemotherapy is most often used to treat children with a tumor in only one eye. Dr. Pashankar believes the team may eventually develop the treatment to become a more viable option in children who have tumors in both eyes. “This is an exciting new development that we have here at Yale,” she said. “I think it’s got a lot of possibilities.”
Follow-up is intensive for retinoblastoma. Children are examined monthly under anesthesia for two years following treatment. This creates a strong bond between families and the medical team. “The youngest child I’ve seen at Yale, she was five weeks at the time of the diagnosis with bilateral disease,” Dr. Materin said. “I see the changes month after month, like when the child has a new tooth or when he or she is walking.”
When Luke first saw Dr. Bulsara there was an instant bond. The boy “just lit up and was laughing and giggling,” Justin said. It’s as if Luke knew the surgeon was going to help him, he added.
Two months after his diagnosis, Luke is a happy, energetic toddler who likes to draw and roughhouse with his big brother and sister. As Luke and Jack sit rubbing noses and giggling, Ashley says she’s glad that Luke will not remember his ordeal because it happened when he was so young. His parents have saved piles of notes and cards, however, particularly from Justin’s students. They plan to make a scrapbook for Luke so that he can remember not how ill he was, but how many people were pulling for him to get well.