Hello again! It's been sometime since my last blog. Work and life in general has been crazy
and kept me from having the time to write. Since my last post William has started a school program through our county. It's for kids with disabilities to receive center based therapies such as speech, occupational, physical, behavioral, and for William orientation and mobility (cane training). Soon I'll have to dedicate a whole blog to his school experiences. It has been great for him to have the opportunity to map out a new space and learn how to move around and interact with others his age!
I want to use this blog to help catch everyone up on where we are at with Will's medical journey. Over the summer I started noticing changes in my boys left eye. I took a picture and texted our surgeon and he responded with "low eye pressure". Looking at photo what you'll see is a more sunken in look to his left eye. I started noticing more dark circles around this eye and thought he was either getting sick, not getting enough sleep, or running into things and bruising it. We've had our fair share of black eyes from running into walls, tables, and chairs so I really thought it was likely that causing the darkness around the eye. When it didn't fade and in fact got more noticeable I knew something was up.
I am not expert on eye pressure and when I tried to research it I didn't find much. High eye pressure it bad and low pressure isn't as concerning. High eye pressure it very painful and can cause damage to the eye and sight. Low pressure on the other hand does not cause pain. Significant low pressure can cause issues with sight but that's not exactly a concern for William so our surgeon wasn't worried. I was worried! Any change in my boys appearance worries me. We are fortunate to have fairly normal looking eyes despite the amount of damage within. Some kids with norrie disease don't even have visible iris. We were blessed with beautiful blue eyes. When thinking about eye pressure the best comparison I can think of is a basket ball. Inflate too much and the pressure from the air can cause it to rupture. To little air and it will appear sunken in and deflated and won't function as it should. If the eye continues to drop pressure and sink into the socket the whole socket will stop developing normally and appearance would greatly change. For these reasons I knew this warranted another trip to see our surgeon in person and get more answers.
I always schedule our appointments for first thing in the morning at 7:30am. This ensures
minimal wait time with a temperamental toddler. I made the mistake of scheduling and afternoon appointment once which resulted in a 4 hour wait... never again! 7:30 means we leave the house no later than 5:00 am. I thought Will would sleep in the car but NOPE! I have a theory as to why this is. For most kids the car is relaxing ad puts them to sleep. Since William doesn't have sight the motion of the car gives him that vestibular input that he's always seeking. Vestibular input is what helps his brain orient where he is in space. He heavily relies on this since he doesn't have sight to help him. He feeds his vestibular needs with motion. Because of this I think for him the car is stimulating and keeps him awake vs most kids being put to sleep by it. Therefore we got a toddler concert for the full 2.5 hour drive!
In our appointment my main focus was the change in appearance. I know my boy is blind and that is a fact we live with, but I don't want his eyes to appear any more abnormal than they already do. Many kids with norrie have very shrunken or misshaped eyes. Often with this disease the eye are very small and close together. Because the eye are lacking basic functions from a young age they do not grow normally nor does the socket around them. Something that can be done to combat that is scleral shells. These are prosthetics that for lack of a better description or large plastic contacts that help maintain eye shape. You can get the shells clear or painted. One thing I've learned from hearing about others journeys is that if the eye is indeed shrinking then shell should be something that's implemented soon rather than later so that shape continues to develop normally. As always while you go in with a reason for your visit with the specialist the appointment takes many turns.
A toddler is not an ideal patient. There is no holding him down for probes in his eyes for the surgeon to get a good look. Dr. Sears is so understanding of what is and isn't necessary. It's not worth the battle and emotional distress so he gets the best look he can as Will sits in my lap and walks around the room. While he still stood by his diagnosis of low pressure he doesn't feel it's significant enough to warrant shells right now. He believes the pressure drop is partly a result of the oil that's in his eyes. We already know the oil leaked out to cause the cataracts and it now appears to be changing the shape from this. If you read my earlier blogs one possibility of oil in the eye is leakage through the optic nerve to the brain. Obviously that is something we want to avoid! It has been determined that surgery is needed. Dr. Sear wants to remove the oil that's currently in the eye and replace it with a different thicker oil that is better at maintaining the shape of the eye. When asking what the worst case scenario might be with the new oil the answer was atrophy (shrinkage of the eye). While that's scary sounding the risk for atrophy is higher without the oil change so to us it's a no brainer that we move forward.
While Will in under anesthesia we decided it'd be prudent to go ahead and remove his cataracts as well. Once the cataracts are gone Dr. Sears will be able to get a good look at what state the retina is in and if/how the disease has progressed in the eye. Now here's where things get subject to interpretation and hence a little emotional. Sear's made it clear in this appointment he spends a lot of time thinking about Will's eye and what we could have done and what he did do and how it didn't work. To this day Sear's says it's the worst case of norrie he's ever seen. I think it haunts him all the time and energy he put into Will's eyes to preserve some semblance of sight and yet at the end of it all the retina still detached and we were left with nothing. I'm starting to think Dr. Sears is still in the early stages of grieving for Will's sight. It's great to have a surgeon whose so invested in your child but then the hard part of this is he projects his hope onto us. Sear's commented that when the cataracts are gone he is hoping and praying that some small fraction of retina will still be viable. I know he hopes this because of all he's put into Will's eyes but I know this won't be the case. Before the cataracts ever developed it was Sear's himself who diagnosed the final retinal tare. Another reason I know this won't be the case is the fact that Will has not been light sensitive since about 2 months of age. There was a small window of time Will reacted to light. I'd turn on the light in his room in the morning and he would squint and react as we all do in the morning. That all abruptly stopped at 2 months old and never came back. Cataracts or not Will does not see light. While Sear's is hoping for a retina that can detect something I know this is not realistic for Will. It can be hard when your surgeon is expressing hope for something that you realistically know isn't possible.
Going into appointments and surgery I used to pray and hope for miracles and was always let down with more back news. This certainly shook my faith in God and just goodness in general. The way I had to get through it to be able to move forward was to redirect my hope and live in the reality my son is permanently blind. Now going into these appointments I hope for continued normalcy in eye shape, and safety during these sedated exams and surgeries. Approaching it this way keeps me from the extreme let down and depression I experienced at the beginning. Will needs me so not sinking into what could be more depression is important! Everyone has their own approach to dealing with these tragedies and this is how I get through it.
Another reason for our visit was to ask questions about some new research my mother in law has been following. An important fact to remember with these thoughts of research is that the eyes and the brain develop their communication in the first 8 years of life. You could take someone with perfect eyes, sew them shut at birth and reopen them at age 8 and they will never see. Will is 2.5 so that leave 5.5 year for research to develop. There is a small window for any medical intervention to be beneficial for Will. Another important factor is that in order for repair or replacement of anything to be an option there has to be an already existing platform for those to attach to. Let's say they figure out a way to implant a retina... this still doesn't help Will because his optic nerve is distorted so the retina has nothing normal to attached to. Because Will's eye never had normal basic function there is little to nothing research wise that relates to his case. The new research is close to starting clinical trials so we wanted to be sure we asked our questions. The concept is that there is a protein deficit that causes norrie in the first place so this trial is injecting that protein into the eye and has seen some results in mice. When asking Dr. Sear's about this research it was very clear that it's a far fetched idea. His example was take someone who is missing an arm. Let's say they were born without their arm, you can't expect to inject something and an arm magically grow. I am not a scientist so I can't even begin to understand all the nuances of research and trials. What I have to remind myself before looking at anything is that Will's eye never fully developed. He was born without an arm. He never even had the layout for normal blood supply or retina which makes any new medical invention that would help his case VERY unlikely.
Next step will be to set a date for surgery. We were going to try to do it before the end of the year however life has gotten hectic. We bought a new house and sold our current home all in the course of 2 weeks. We will be moving early December from our 4 level split to our new 1 story home with an open floor plan on a large lot in a great school district. We are very eager to get settled in our new home. Next posts will be about surgery and our move!
