Initial Diagnosis: Retinoblastoma
At 12-months old, Emma’s parents noticed that she was squinting to look at things. After a basic eye exam, it showed that she was having trouble seeing objects in her right eye. Throughout the next month, she underwent additional testing and was diagnosed with retinoblastoma. Retinoblastoma is a cancer of the eye resulting from a genetic mutation that only affects infants. The suggested treatment plan was enucleation (removal of the eye). This is the standard practice for treating retinoblastoma and has been the same for over 100 years. In the United States, we are relatively good at treating this cancer and we’ve achieved a mortality rate of less than 5%. In many countries, such as China, the mortality rate is much higher and about 40% of children with retinoblastoma die.
MORE Health Co-Diagnosis Analysis
Emma’s parents did some research on retinoblastoma and decided to get a second opinion. They reached out to MORE Health. As soon as MORE Health received the Emma’s medical records, they got in touch with Memorial Sloan Kettering Cancer Center and matched her case with Dr. Abramson, a pediatric oncologist at Memorial Sloan Kettering Cancer Center.
Dr. Abramson completed his Co-Diagnosis of the case that same day and recommended she undergo intra-arterial chemotherapy (IAC) as soon as possible to have a chance to save the eye.
Intra-arterial chemotherapy (IAC) is a new treatment that was jointly developed by Dr. Abramson, and Dr. Gobin, an interventional radiologist at New York Presbyterian (Columbia and Cornell Universities’ hospital), which can help the child keep both eyes. Both are ranked as top 1% physicians by Castle Connolly.
Emma and her family were expected to travel to New York to see Dr. Abramson and Dr. Gobin where she could receive treatment. However, this was a lot to take in for Emma’s parents. Being overwhelmed with the diagnosis and due to poor advice from their local doctor, Emma’s parents decided to wait and not move forward immediately with the suggested treatment plan.
Once they got to NY, Dr. Abramson told them that they waited too long. If they had come earlier the IAC procedure would have been possible. But due to their long delay before deciding to move forward, Emma was unable to get the treatment she needed. Unfortunately, at this stage Emma’s only option was to have her eye removed.
When facing a serious, life-changing illness, not only is it important to get the right diagnosis but to not delay treatment too.
To protect patient privacy all patient stories use aliases.