https://www.weny.com/story/45228462/special-report-eye-fight-for-eli
WELLSBORO, PA. (WENY) — A little boy in Tioga County, Pennsylvania recently had to have his eye removed after being diagnosed with a rare disease.
Now the family is working to increase awareness about warning signs, which can be found in tell-tale signs from simple pictures.
At 20-months-old, Eli Gill is your typical child who loves to play and try to keep up with his two older brothers.
But just two months ago on September 1st, his parents started talking about noticing something odd in past photos.
“Sean came home from drop-off and had mentioned to me that he had been seeing a white film over his eye, and so that just kind of started a whole snowball effect of, I’ve been noticing that too, maybe we should look into this,” says Eli’s mom, Christina.
Christina began doing research and was able to get a local doctor’s appointment that same day.
“They started the procedure just observing the film over the eye, they were doing like the eye reflection of the light on his retina and everything and the doctor gave us an emergency referral down to Philadelphia to have further testing done to properly diagnose what was going on,” Eli’s dad, Sean, explains.
Both parents describe a range of emotions, first validation they were right to question the strange glow from the photo.
“…but then I started to get scared. Our diagnosis referral was for retinoblastoma which is an eye cancer and when we had talked to the doctors at Wills Eye Hospital in Philadelphia in order for that first appointment to happen we did have to get an emergency-sedated MRI done on him and blood work,” Christina recalls.
After a flurry of appointments, bouncing back and forth from Wellsboro to Philadelphia, Eli was seen by Dr. Carol Shields, MD, a leading expert on ocular diseases.
“The first thing we always think of when we see a retinal detachment in a baby is cancer — then once we rule that out by getting some testing then we say, wow there’s no tumor so maybe its something else that’s leaking,” says Dr. Shields, Director of Ocular Oncology at Wills Eye Hospital of Thomas Jefferson University in Philadelphia.
“She did come in and she said you know this is good news — this is not cancer so that was a huge weight off of our shoulders,” says Christina.
“…but then it was– but his retina is completely detached, he probably will never have eyesight in that eye,” she continued.
More exams finally leads to an official diagnosis of Coats’ Disease.
“I mean it ranks with those conditions that are like one or two in a million – it’s a very rare condition. It is a condition where the blood vessels don’t form correctly in the back of the eye so they, instead of going smoothly through the retina they have a very torturous course,” says Dr. Shields.
“And she did tell us too at that point that there was no chance – we really needed to get that eye out, it was probably very painful for him and obviously at a year old he really couldn’t communicate that to us and he had developed his own coping mechanisms for that pain,” Christina says.
Dr. Shields and her team have developed the Shields’ 5 Stages of Coats’ Disease, where each phase encompasses the amount of issues within the retina.
At end stage four, entering the fifth and final stage of Coats’ Disease, Christina and Sean made difficult decision to have Eli’s eye removed. The surgery took place on September 23rd.
“I think we went through all types of emotions, you know full circle there was the relief that we were going to give our son relief, there’s the fear of what is he going to look like and what is this going to do for his future?” says Christina.
The mom of three now runs a Facebook blog, Eye Fight for Eli, documenting her son’s journey. She is also hoping to help educate others about the warning signs of ocular conditions, teaming up with the national organization, Know the Glow.
“The one thing that I have learned is that yes, he is half blind but he’s not disabled, he might have a handicap but he is just as active as our other kids, he loves to run and jump and climb and this really did not set him back at all,” Christina says.
Dr. Shields explains the importance of being aware of these types of conditions, especially since the current guidance for eye exams starts at an older age in kids.
“The first check of a baby’s eye should be done by a pediatrician at about age four years where the vision’s checked, and then later the school nurse will check but there’s not a recommendation for all babies to go to the eye doctor to get an exam. To me that breaks my heart because a lot of these conditions that I deal with are detected by the parents,” Dr. Shields says.
Christina also hopes to start an organization to help offset travel and lodging costs for other local families who may need to travel far distances, or extended periods of time, to seek specialists for medical conditions.
In the beginning of November, Eli had his six month post-operation appointment with Dr. Shields. His eye is healing very well and Eli will soon be getting his first prosthesis eye.
The family is currently running a t-shirt sale for Eli’s medical expenses now and in the future. Details can be found here: https://www.lemonaidapparel.com/eye-fight-for-eli?fbclid=IwAR12x8Cv4dQGmmKBqVwReO2J1etBm0K_Mw0dKiuDhMDmqMC5YLgm0Kjv8R0
Also, a family friend started a GoFundMe to help cover travel costs for the family, who will have to continue trips to Philadelphia every few months: https://www.gofundme.com/f/eye-fight-for-eli?utm_campaign=p_cp+share-sheet&utm_medium=copy_link_all&utm_source=customer