The life of a mom with a disabled child is never ending. Just when it seems things are stable and you settle into day to day life something new comes up. The reality of having a child let alone a disabled child is that your mind can never rest. I find myself constantly overthinking each little movement or change in Will’s behavior. Will doesn’t open his eyes wide very often so when he does I lean in for a good look. Often at night when he’s drinking his bedtime milk I’m able to get a good look. It was then that I noticed changes in his pupils and cataracts.
When you notice something you with your special babe you find your mind immediately goes 1 of 2 places. The first is this must be no big deal. This can’t be something else bad happening. And you try to put it out of you mind. But like always you can’t. The other place you mind goes is worry. You fixate on it and become obsessed with what it could be. Like a determined warrior you don’t give up until you get answers! With this change in his eye I went through both emotions in a 24 hour period. The rapid highs and lows are exhausting, but as a parent you do what you have to.
When I looked into Will’s eyes this time it was clear things were different. His pupils were wider than before and no longer perfectly round. The cataracts were more distinct as well and seemed thicker than before. Rather than a solid grey haze there were what I can only describe as clouds. You could see some of the areas were much thicker and white while others were still a thinner grey haze. While I didn’t know what these changes meant I was concerned to say the least.
My biggest concerns from the moment we knew the blindness was irreversible was keeping his eyes healthy and normal looking. When we had first noticed the cataracts, it was a hard pill to swallow. It’s one more thing that makes my son physically appear different. However they weren’t overly noticeable so eventually it was something I felt was a minor cosmetic issue that I could learn to live with. As I noticed the changes in the eye I started worrying that this was a progression and would continue to worsen. Will has Beautiful blue eye just like his Mom and Dad. I know other boys with Norrie who have such large pupils their iris is not visible. I certainly don’t want this to happen in our case!
Not long after I noticed these changes an organization I’m apart of was having a retinal specialist do a webinar. The group is called Remember the Girls and it’s for all those women who are carries of genetic diseases. That’s one aspect of this disease that often gets forgotten. The difficulties of being a carrier and knowing you hold the gene that effected your child is something that always stays with you. It’s comforting to be able to connect with others who have similar thoughts and struggles as carriers.
The Webinar was with Dr. Alina Dumitrescu. A Clinical Associate Professor Ophthalmology and Visual Sciences specializing in pediatric ophthalmology. During her talk I learned several things that I didn’t know before. One of these being that there has been a case where they detected Norrie in utero. They then induced labor early and the baby went right into surgery where they were able to save a good portion of his sight. From what I remembered I think the child ended up with somewhere around 20/600. Not great vision but still more than Will has! After the talk we were able the message her questions. With my friend Jillian’s help I sent her a picture of Will’s cataracts with the changes. Her Response “From what I can tell in the picture it looks like the baby has cataract and what it's called posterior synechia where the iris gets stuck to the cataract. That changes the shape of the pupil, however can lead to other complications like increased IOP and glaucoma, so I recommend an evaluation with pediatric ophthalmology for this baby.”
Well, that sealed it we were headed to Cleveland! We drove up and stayed at a hotel the night before as we had a 7:15 am appointment. After a short wait we were taken back by the technician who said we would not be dilating. Before every appointment we’ve ever had we’ve dilated the pupils with drops. This widens the window in which they can see more details. It confused us why they didn’t want to do this. When Dr. Sears came in he explained he did not find it ethical to put Will through the discomfort and pain of dilating and holding him down when he felt strongly we wouldn’t see anything crucial to his current treatment. In the end he looked at what he could see without restraint. From what he could see he said his eyes were holding up well. He did not see any reason to be concerned about glaucoma, and said the cataracts were just continuing to develop. My concern was that they’d expand and turn the whole eye white. He said because I could see them so clearly and distinctly the lens was in tact and because of this the cataracts would not overtake the iris. If that changed however we would need to come back right away.
I have been focused on getting the silicone oil out of Will’s eyes as soon as possible. When researching for a previous blog I learned of all the adverse side effects that can happen with the oil. I asked again at this appointment about removing it. To my dismay it was made clear the oil would need to stay in permanently. Dr. Sears firmly believe the reason the eye looks as good as it does and hasn’t become deformed is because of the oil. While I was not thrilled about this answer, I realized the oil is doing more good than harm. We asked about the possibility of removing the cataracts someday for appearance purposes. While Dr. Sears said he did not feel that was worth the risk of anesthesia and surgery when the eye would never see anyway, he ultimately agreed he would if that’s what we wanted. While we have not decided either way it is important to us that our boy appear as normal as possible. Kids can be mean and we don’t want there to be any more reasons for our son to be viewed as different.
As always while the trips to Cleveland are exhausting and sometimes disheartening it is worth the trip! I’d rather know what we are facing be it good or bad than be left wondering. We will continue to see Dr. Sears every 6 months to monitor for changes. Our boy continues to be the happiest child I know and I am blessed to be his mom!
To Learn more about Dr. Alina Dumitrescu follow the link below!