Diagnosis: Coats’ Disease
When Eli was just seven months old he began to exhibit persistent high fevers. These fevers became very alarming to his parents, Christina and Shawn Gill. They were common and could reach as high as 107 degrees! Eli was also sleeping almost twenty hours each day. The Gills were determined to find answers for their son.
Living in a rural community in North Central Pennsylvania, it was difficult to find a referral appointment for Eli. Matters were made worse as it was the height of the COVID pandemic. Christina and Shawn were finally able to schedule a Zoom appointment with a doctor in Rochester, NY. This doctor, never physically seeing Eli, listened to his symptoms and diagnosed him with Periodic Fever Syndrome. He prescribed a steroid to stop the fevers when they started.
Christina was not comfortable with the diagnosis, nor was she comfortable with the amount of steroid she was administering to her newborn. She knew there was more to his story and was determined to dive deeper and find answers for Eli. Eli also began to have more frequent flares and had plateaued on the growth curve. With persistence they sought care at Children’s Hospital of Philadelphia (CHOP) and met with specialists in infectious disease, rheumatology, endocrinology, genetics and ENT. Each of these specialists had done a thorough exam of Eli in regards to his periodic fever syndrome.
On September 1st, Christina and Shawn were talking after dropping Eli’s older brothers off at school that morning. Shawn mentioned that he had noticed a Glow in Eli’s eye every so often in just the right light and at just the right angle. Christina’s heart sank. She remembered seeing this same Glow, but did not put it together until that moment. She remembered a story that she had read years before on Facebook that talked about how a Glow in flash photos could be a sign of retinal cancer, Retinoblastoma. She knew they needed Eli to be examined as soon as possible.
The Glow (leukocoria) is the white / yellow reflection that can show in flash photos of children who have certain eye conditions. At times this Glow can also be seen by the naked eye. There are more than twenty different diseases that can present with leukocoria. The most serious of these is Retinoblastoma.
Christina called the doctors at Children’s Hospital in Philadelphia (CHOP). She explained what she and her husband were noticing. They advised her to find a local eye doctor for an emergency screening. The family soon discovered that this was not easy in their rural community as many of the ophthalmologists in their area would not examine a child under the age of five. After many calls they finally found Dr. Robert Strohecker in Wellsboro, PA. Dr. Strohecker did a thorough exam of Eli. After his exam was complete he gently told Christina and Shawn that he “highly suspected Retinoblastoma”. They were given a referral that day to see Dr. Carol Shields at Wills Eye Hospital.
When setting up the visit with Dr. Shields, they were asked to arrange for Eli to have some blood work done as well as a sedated MRI. This procedure was performed at CHOP a few days later. Just days after that procedure they able to meet with Dr. Shields to review the results.
Dr. Shields was very matter of fact. The good news was that Eli definitely did not have Retinoblastoma. He did not have cancer. However, his retina was completely detached. She suspected he either had Coats’ Disease or another condition known as PHPV. Christina said that while she was relieved that her son did not have cancer, she knew nothing about these other two serious conditions. They needed to wait a week for his EUA (exam under anesthesia) to find his true diagnosis.
After the EUA, Dr. Shields diagnosed Eli with Stage Five Coats’ Disease. Stage five is the most advanced level of this condition. His right eye was in danger of rupture and could hemorrhage. They believed he was in significant pain, hence the abnormal amount of sleep. Eli also had advanced glaucoma. They were told he needed an emergency enucleation, removal of his eye. Seven days later, just 22 days after they first discovered Eli’s Glow, his right eye was enucleated.
Looking back the family realized that the very first photo of Eli with the Glow was posted on Facebook by his mother on Christmas 2020. At the time of the posting, not one person realized that Eli had such a significant sign that something was terribly wrong. Christina has found many other photos where the Glow was noticeable. She is saddened and frustrated that neither she, her husband nor any other person who looked at that Facebook post noticed the Glow. She is determined to spread awareness to as many as possible. Please visit her Facebook page, Eye Fight for Eli, to see how this wonderful family has turned their difficult situation into determined advocacy for other children in need.
Eli is now a very happy toddler. His sleep patterns have become normal for his age. He is no longer in pain. Christina and Shawn have their suspicions that his persistent fevers were related to his advanced Coats’. At this time they are not able to prove the connection. However, they have plans to further study this relationship in hopes of helping other children in the future. Eli will be fitted for his first prosthesis two days before Thanksgiving. Christina and Shawn say this will be a Thanksgiving that they have much to be grateful for!
