My Life With Stickler Syndrome - Part 2: My Story
In part 1 of this essay series, I shared a little bit of my family’s experience with Stickler Syndrome, including how we finally found out we had it. Today, I’d like to tell you what it’s like to live with this disorder.
While I’ve lived with Stickler Syndrome my whole life, I didn’t know I had it. I have always been severely nearsighted. At the time of this writing, my prescription is a -18.5. Most eye doctors I see, including some specialists, are astonished by me. I very often win the game of highest prescription they’ve ever seen. Lucky me, right? While most of this essay focuses specifically on all of the issues I, or my kids, have had with our eyes, please know that we all have full, beautiful lives full of incredible people and amazing experiences.
I had an amazing childhood. I would play outside with the neighborhood kids, ride my bike, go on the swings, devour books, and spend time with lots of family members and friends. As an adult, I’ve attended hundreds of sporting events, tons of concerts, I’ve done some fun road trips, met the love of my life, and together we’ve created a beautiful family. I can say with 100 percent certainty that I love my life. Please remember that as you read through my experiences.
At six months old I had an eye exam under anesthesia because there was a concern that I had glaucoma. I don’t know why they thought that. I didn’t know this happened until I was looking through my baby book in my twenties. Thankfully, I did not have glaucoma.
I was fourteen months old when I got glasses. This was in the 70’s, so babies with glasses were very rare. I had big, thick, coke-bottle glasses. My mom has said that I was crying and fussing in the eye doctor’s office when they took me to get the glasses, but as soon as they put them on I stopped fussing and reached out to her face because I could finally see clearly. I was hoping for a similar experience when three of my kids got glasses at young ages, but alas, that was not the case.
Me at 5 months, 6 months and 2 years old. Notice the facial features typically associated with Stickler Syndrome.
I’m grateful that somehow my parents were able to find doctors willing to examine and treat a baby. It’s still hard to find eye doctors for kids that young today, never mind almost fifty years ago.
Growing up I had a whole list of things I wasn’t allowed to do because of my eyes. That list includes but is not limited to things like riding horses, diving headfirst into a pool, and playing contact sports. At various points in my life I have also been told not to run, jump, spin in circles, and even READ.
My dad had four retinal surgeries when I was about 4. I don’t really remember him being gone for those surgeries, but I do have vague memories of sitting in the retina specialist’s office at Mass Eye & Ear when my mom would bring him for checkups. Everyone looked so old to me. I wonder if that’s what little kids think of me when they see me in the waiting room now. It probably is.
When my younger sister started taking dance lessons at my great-aunt’s dance studio, I wanted to do it too. My mom cleared it with the eye doctor before letting me. I was around 6 at the time, so it’s not like we were doing anything intense or dangerous. Just a few step ball changes and plies. Still, she wouldn’t let me do it until the eye doctor gave the okay. I ended up dancing for seven years. I wasn’t very good, but I enjoyed it. Plus, it was fun to see my great-aunt and my great-grandma every week at my lessons. My great-gram helped out at the front desk, and I usually sat near her to eat my snack during break time.
When I was nine, I was finally allowed to play sports on our town’s parks & rec leagues. The first sport I did was soccer. I played a few positions, but I loved center fullback. My team name was Bishop & McCollum and we had dark purple shirts. I LOVED playing soccer. I still enjoy watching it to this day. I also played basketball and softball. I did not love either. I was really, really bad at softball. I didn’t get a hit all season. The coaches were two college kids and they tried, but I just couldn’t do it.
Ironically, baseball turned out to be the sport I fell in love with the most. I loved baseball so much that I took an English class in college entitled “Literature in Baseball” for two reasons. One, I loved reading and discussing baseball. Two, and probably the bigger reason, was that the class went to spring training during spring break and that sounded amazing to me. I was a partial season ticket holder, and I used to go to upwards of forty home games a season. I even slept (or sat since we didn’t really sleep during the night) outside Fenway Park one year in hopes of getting playoff tickets. That was a cool experience. Go Red Sox!!
I fell off my bike pretty badly when I was nine. I was outside on a nice winter day riding around, and I fell in my driveway. I broke my glasses and ended up with a black eye. My dad took me to the eye doctor as a precaution and they said everything was fine. I was instructed to tell my parents if I saw any concerning things like small black dots floating around.
Life proceeded as normal. I turned ten that summer and was preparing for my second soccer season. I was so excited to play again. One summer day in mid August, I was sitting at the kitchen table coloring. I have loved coloring my whole life. I can vividly remember the coloring page I was working on. It was from a Disney coloring book. It had three teacups on it, kind of staggered down the page, with Peter Pan and Wendy on there as well. I colored for a bit, then went downstairs to my room to read. Reading has been a lifelong love of mine. I remember laying on my bed reading, but I kept seeing blobs of color on the pages. It was like looking through a kaleidoscope. I got super annoyed, so I went upstairs and told my mom. She immediately had me cover each eye and try to count the number of fingers she was holding up. I remember having to tilt my head when my right eye was covered because I couldn’t see clearly.
My mom called my dad and I was at the eye doctor’s office that afternoon. I honestly don’t remember what was said in that office other than the retina in my left eye had detached, but I knew I had to go to Boston that night to have surgery the next morning. In the elevator on the way down after the appointment, I do remember my dad telling me I wouldn’t be able to play soccer anymore. The season was a week or two away from starting and I was devastated. I remember one tear rolling down my cheek as the elevator descended to the lobby. That’s the only time I remember shedding a tear over this surgery.
Once we got home it was a flurry of activity. My dad’s cousins came over to take my three sisters to their house while we were gone. I remember my parents going into their room and I could hear my dad crying. I couldn’t understand why he was sad. I didn’t have the life experience to really comprehend what was happening or what it would mean for my life. As a parent I completely understand what my dad was feeling but I need to make it clear that I have never once blamed him for any of my eye issues. I wish I could take that feeling away from him.
That night we were in Boston (about 2 hours from my house) at Mass Eye & Ear Infirmary. I still didn’t really comprehend what was going on. I was put into a room with another patient. I think she was around fourteen and I believe her name was Katie. (If you had surgery in mid-August ’88 and the age and name fits, I hope you are doing well today!) I remember the doctor, who was my dad’s surgeon, coming in to talk to my parents and I. Then my dad and I went to the playroom on the floor. I remember they had a giant Scrabble game on the wall that we played.
Once I was back in my room, my parents left for the night. One of the nurses wheeled in a TV with a VCR and told me I could watch movies. This was high luxury back then. They also said I could have as much Jello and pudding as I wanted. So far, this seemed like an amazing experience for me.
The next morning, I wasn’t allowed to eat. My roommate had already had surgery so they brought her breakfast in. It smelled so good, and I couldn’t understand why she didn’t want to eat it. I understood by the next morning.
At some point that day I had surgery to re-attach my retina and have a scleral buckle put in. I vividly remember laying on the bed in the OR and getting the gas mask put on. It was terrifying. I can still clearly remember how I felt. As the gas started working, my brain panicked. I felt like I was suffocating and I was so, so scared. Every surgery I had after that, I chose the IV. There was no way I ever wanted that experience again.
When one of my sons was having surgery, I went in the OR with him while they put him to sleep. I’m pretty sure my parents weren’t allowed in with me, but I can’t remember that part. This wasn’t my son’s first procedure under anesthesia, but it was the first (and only time) I went in with him. I usually make my husband go in because I am so traumatized by my own experience as a child, and I can’t watch my kids go through the same thing. As the gas started taking effect, he panicked. I couldn’t hold back my emotions and I started crying. The anesthesiologist assured me that he wouldn’t remember, and that it was just his brain reacting to the medication. I knew this wasn’t true. I still remember, almost 40 years later. I’ve asked my kids if they remember being put to sleep, and they usually do. Doctors, please take note and listen to what patients are telling you.
After my retinal surgery, I stayed in the hospital for a week. I had an IV in my hand the whole time. When it fell out, they had to replace it, which was not fun. I had to sleep on a specific side to help the retina stay in place while it healed, so they had pillows propped up behind me to try and prevent me from rolling over. That first morning after surgery I quickly realized why my roommate hadn’t wanted to eat the day prior. I did not feel good and I had no appetite. My parents would come spend time with me during the day. Eventually I started feeling better, and after some Jello and pudding I started eating real food. I remember my grandparents came to visit one day, and my grandma brought me a thermos of homemade tortellini soup. It’s still one of my favorite comfort foods.
They had an activity lady who came around a few times to do crafts with the kids in their rooms. I remember one time making one of those yarn God’s eye things that were super popular in the 80’s. I didn’t get out of bed for several days. I had an eye patch, and I needed drops and cream every day. Eventually, they got me up and walking. I walked down the hall to a phone. I remember it being near an atrium you could sit it, but I’m either imagining that or it has since been remodeled because that doesn’t exist now. I talked to my godmother on the phone and she was so proud of me for getting up and walking.
Things are so different now. I had a one week stay at the hospital and my parents got to stay for free or at a seriously reduced rate in housing the hospital had across the street. When my son had a detached retina at the age of 2, they tried to discharge us from the hospital two hours after he woke up. He was screaming that we were killing him and trying to rip his IV out. It was traumatizing. We spent hundreds of dollars to stay in the same building my parents had stayed in, but at that point it had been turned into a hotel. Now it is an even more expensive boutique hotel. The support for patients and families has eroded tremendously over the decades.
When I was discharged from the hospital, I had a list of restrictions and rules. I had to wear the eye patch with a guard over it for several weeks. I had to rest my head face down several times a day. I had eye drops and cream I had to use every day. I couldn’t really play outside because they didn’t want dirt getting in my eye, even though I had the patch on.
Shortly after coming home, my mom called my friend’s mom to explain what was going on. She invited my friend over, but she wanted to warn her about the patch so she wouldn’t be scared. My friend came over and didn’t treat me any differently. I will be forever grateful for that.
When school started a few weeks later, I still had to wear the patch. I wasn’t allowed to participate in gym class or go outside for recess. Fun fact – I never did gym class again. During recess, I was allowed to pick one classmate to stay inside with me. After we ate lunch, we hung out in the classroom unsupervised. We passed the time by drawing on the chalkboard. Chalk dust probably wasn’t great for my eye either, but I was 10 and there was nothing else to do.
I remember one time when the class was in line for the bathroom (the whole class went together once or twice a day) and a classmate asked me if they took my eyeball out to fix it. I knew they hadn’t, but I couldn’t really explain what had happened. I had never fit in, but now I stood out even more.
That fall I went to watch my soccer team play. It was a freezing cold day. In my memory, someone gave me a hot chocolate. I was happy to watch my former team play, but sad that I could no longer participate. I was never allowed to play contact sports again. The only one I missed playing was soccer. I was so excited when my daughter decided to play, but after one season she called it quits. It was fun watching her, but I also honor her choices.
During gym class I would sometimes go sit on the side of the gym and watch, but most of the time I ended up staying in the classroom with my teacher. In eighth grade I remember my teacher having me help change the bulletin boards and themed posters in the room. Every Friday afternoon at the end of art class right before dismissal I was assigned to clean her desk with one other girl. That teacher (a nun) hated our class, but she loved me. She gave me a card when I graduated 8th grade with some money in it.
When I was twelve, I had surgery to repair some tears in my retina. It was supposed to be a one day thing, but the anesthesia makes me so sick that I could not get up to go home. They finally put me in a room until I was able to leave. I remember having one of those big plastic bowls everyone in the 80’s had. I laid down in the back of the minivan trying not to throw up the whole way home. It was miserable.
During my tween and early teen years, I still loved riding my bike. I had to give up sports and gym class, and I stopped taking dance lessons after eighth grade, but I always loved riding my bike. I had a pink ten speed that I would ride all around the neighborhood. Sometimes I would try to lay on the seat with my arms and legs spread wide while the bike coasted along. I never had a bad fall from a bike again.
I found other activities I enjoyed. One year (either fifth or sixth grade) I was in a bowling league with some friends. If I remember correctly, our team won first place. I also did this really cool program called Science By Mail, where you are paired with a real scientist and you get monthly experiments they help you with. A few of my friends and I did this together.
Our scientist was based in Canada. I remember one time my friend and I snuck into my parents’ room and called her long distance. I can’t imagine what that phone bill was like. Our scientist, Jennifer (I think) was really cool. She actually came to visit one time and did a presentation at my school on her specialty, which was Sickle Cell Disease.
I turned fourteen during the summer between freshmen and sophomore year of high school. I also got contacts that summer, which I think is pretty poetic. Glasses at fourteen months old, contacts at fourteen years old. I say contacts, but really it is one contact. I do not have usable vision in my eye that had the detached retina. Even though they were able to repair it, I never got usable vision back. We don’t know when the detachment happened. I always thought it had to do with that bike accident, but recently my mom told me she let me dive headfirst into the pool and a week or two later I had the vision issues which led to the surgery. We’ll never know for sure how or when the detachment happened.
I practiced wearing the contact for a few minutes every day, working my way up slowly. I also had to get used to the solution. I used to use AOSEPT which was a multi step process. Sometimes my eye would burn after putting my contact in. I would try to rinse it and put it back in, but sometimes I had to get to school so my eye would just be burning for a few minutes to a few hours. It took a couple of years for me to learn that I was using too much of one of the solutions.
Once I got my contact, we realized my left eye was what you might call a lazy eye. It was drifting around doing its own thing. It didn’t really bother me at first. When I was a junior, I ended up on the cheerleading team, but I wasn’t really allowed to cheer. You can read all about that here. Anyways, I have a very distinct memory of cheering at a game versus the vocational school in town, who we considered our rival in a way. I remember hearing kids from that school talk about my eye and how crazy it looked. I started to get self-conscious.
At sixteen, I had surgery to strengthen the muscle in that eye. It was at a different hospital with a doctor I was unfamiliar with. I did not like her at all. I was super sick after the surgery and again had the plastic bucket with me for the car ride home. My mom says those surgeons deformed me. My eyes don’t match now. My eye was straight for 25ish years, but it has since worn off and now it is back to wandering wherever it pleases.
I was able to get my license at 16 ½. Growing up I babysat for a bunch of families in town, had a paper route, and worked at my family’s produce store. I really loved working there. While I had some restrictions and limitations, I was able to do a lot of things my peers did. I was never popular and I never had any dates in high school, but I had some great friends and we had a lot of fun together. Things have worked out pretty great for me.
I went to college and graduated with a degree in Computer Information System in May of 2000. I lived in the Boston area and worked in IT in the corporate world for several years. I had apartments with my friends and had the time of my life with them. I was a partial season ticket holder for the Red Sox for several years. We would buy additional tickets (we ALWAYS went to Opening Day and Patriots Day!) and we would travel to a new stadium every year. I was in a local bar when they finally won the World Series in 2004 and we went to the first ever Red Sox championship parade. I also went to tons of concerts and other fun events during my time there.
Me at Red Sox spring training in Fort Myers, Florida; a sampling of my Red Sox ticket stubs and commemorative booklets; my husband, myself, and two friends in our season ticket seats at Fenway Park.
At one point in my early twenties, I was sitting in my cubicle at work and I realized I couldn’t see the clock on the bottom right-hand side of the computer screen very clearly. I realized something might be wrong and I called my dad. He drove out to pick me up and take me to my retina specialist. I ended up getting laser surgery in the office for some holes/tears that were forming in my retina. You have to keep your head still during the laser surgery, but it really isn’t bad at all.
In 2002 I got into a really bad car accident one night. I was driving home on the highway and a surprise ice storm hit. I ended up sliding and hitting one guardrail, hitting a tractor trailer, hitting the other guardrail, and spinning into another tractor trailer, where my car finally stopped because it was wedged onto the front of the truck. It was mere seconds, but it was terrifying. Luckily no one was seriously injured, but I did end up needing laser surgery because my retina (in my good eye) started to tear. Six months later I was a passenger in my friend’s car, and we were stopped at a stop sign getting off the highway. The guy behind us wasn’t paying attention and rear-ended us. I once again needed laser surgery for holes that started to develop in my retina (good eye).
A year and a half later, I met my husband. I had recently decided that I just wasn’t meant to find my person, so when I met him I made no attempts to hide anything. I distinctly remember one day very early on where I stayed in my sweats with messy hair and wore my glasses. I had never let my college ex see me in glasses (to the point that I slept in my contact lens and gave myself an eye infection), so this was a really big deal for me. It didn’t faze my love, and almost twenty-three years later he loves me even more now than he did then, glasses, crazy hair and all.
We dated long distance for 3 years until I moved in with him. I left the corporate world and switched to working in Special Education. We got married and had four amazing kids. Life was pretty good.
My oldest got glasses shortly before he turned two. He hated the eye doctor and at times it took multiple people to hold him so we could get the drops in. My middle kiddo was three, and my third son was 9 months old. None of them liked their glasses and in some cases it took years before they would wear them consistently.
When my oldest was four, he was diagnosed with strabismus in one eye. We tried patching and prisms in his glasses, but it didn’t help. They decided to do surgery. As we prepared for that, his doctor actually asked to look at my eyes, but because of all of my surgeries it wasn’t very helpful. He did say we had the same thing, but at the time we still didn’t know what it was. He could just tell our eyes, and retinas, had similar characteristics. Surgery was quick and successful. By that afternoon he was running around like normal.
When our third kiddo was 2, we noticed his right eye had changed color. He had beautiful blue eyes, and one day his eye suddenly looked green. I panicked, but the pediatrician and local retina specialist didn’t seem too worried. It took several days to get into the eye doctor, who then referred us to a retina specialist in Boston because he thought my son’s retina had detached. We got that appointment, and our fears were confirmed. Surgery was scheduled for the following week. We had no idea what to expect.
We went to Boston the night before surgery. At the time our youngest was only nine months old and still nursing, so we brought her with us. We stayed in the same building my parents stayed in when I had surgery, except at this point it was a hotel and not hospital housing. They were building a new T stop (Boston’s subway system) right outside the hotel. All night long there was a boom every two minutes or so. It was absolutely miserable.
My mom came down in the morning to stay with our youngest while we took our son for surgery. We got a call in the morning asking if we could come in an hour early because the first patient cancelled. We walked across to the hospital and got checked in at 6 AM. We did all the pre-op check in, vitals, etc. We met with the surgeon and anesthesiologist. They gave my son a gas mask to play with and decorate with stickers. When it was time to take him in, I made my husband go. I couldn’t handle it. He donned the scrubs and went in. When he finally came out, I could tell it had been hard on him. We were prepared for a long surgery, but we didn’t really know what to expect. I was sick with fear, with thoughts of horrible possibilities floating in my head.
Partway through, the surgeon came out to talk with us. He said my son had a complete and severe retinal detachment. He went through the list of options and told us what he would do if it was his child. We opted to attempt to repair the retina via laser surgery and the use of oil, as this was the most promising solution. After three long hours, the surgeon came out to let us know the surgery was a success. We were so relieved.
Once my son started waking up, we were allowed back into the recovery area to see him. He was so tiny, laying in that big hospital bed. Eventually he started waking up, and it was brutal. He was scared and not fully cognizant. They shuttled us up to the pediatric floor and put us in a room. He was screaming and crying, trying to rip his IV out. My husband had to sit behind him on the bed and bear hug him to try and restrain him. My sweet boy was screaming that we were killing him and begging us to stop. It was one of the hardest, most gut-wrenching things I’ve ever been through. They tried to discharge us during this time, which was shocking to me. I had a whole week stay at the same hospital after retina surgery when I was ten years old, and now here they are trying to discharge a delirious two year old mere hours after surgery. I was furious.
Eventually we were able to calm him down and we got discharged. Fun fact about retina surgeries – you need to be seen by the doctor the day after surgery. We went back to the hotel, and my aunt had come to relieve my mom. We visited with them for a bit and got my boy settled. My husband and I hadn’t eaten all day and it was now dinner time. We were mentally and physically drained. My sweet aunt offered to stay longer with the kids so we could get some food. We wandered aimlessly until we found a place that was not insanely expensive (although it still wasn’t cheap!!).
That night I slept with my son and tried to keep him in a certain position. The next day we saw the surgeon and got the all clear to head home with a list of instructions, restrictions, eye drops and cream. We picked up our oldest two kids at my sister’s two hours away and then drove another hour home. My son seemed pretty happy and energetic that day.
The next morning my husband left for work, which was a three hour commute one way. I noticed my son was more lethargic than the day prior, and then he started throwing up. I called the doctor and he said to bring him in right away. Luckily, I got ahold of my husband at the train station and he came right back home. We rushed to Boston, hitting an unexpected speed bump near the doctor’s office. In the office, my sweet boy threw up all over the waiting room floor. It turns out the pressure in his eye was extremely high because of the oil they had put in to keep the retina in place during the healing process. We were prescribed another set of eye drops to help bring his pressure down and given explicit instructions to make sure he was spending time face down every day so the oil could settle in the correct spot.
On the way home, our car broke down on the highway (turns out that speedbump caused some unseen damage). Thankfully we were near a rest stop, and we were able to get off the highway safely. My sister came to get us, and after waiting three hours for a tow we were on the way home again.
Once we were finally home and settled, we got into a routine. I took the boppy pillow and had my son lay on his tummy with his face in the pillow. We put the phone under it so he could watch cartoons while he did his face down time. That probably wasn’t a great idea, but it’s really, really hard to keep an active two year old in that position. We did the best we could.
We learned about emergence delirium (ED), which is an acute onset neuropsychiatric syndrome characterized by cognitive function disturbance, involuntary physical activity, restlessness, delusions, hallucinations, and thrashing in pediatric patients (Science Direct, Journal of Pediatric Nursing). Symptoms of ED can include confusion, disorientation, irritability, crying, inconsolability, involuntary movements such as kicking and writhing, violent verbal or physical behavior, avoidance of eye contact, lack of cooperation, lack of awareness of surroundings and the inability to recognize familiar persons. (Medscape).
During my son’s oil removal surgery the anesthesiologist listened to us as we described our son’s extreme struggles coming out of anesthesia during his first surgery. They put less of the sleeping medication and more morphine into the mixture he was given while asleep. This concoction causes them to sleep longer in recovery, but they wake up much calmer. We’ve learned to tell the anesthesiologist about this mixture every time one of our kids had surgery, which turned out to be a lot in the next few years. Sometimes the anesthesiologist doesn’t want to listen to us and does what they want. Each time that happens the boys wake up angry and agitated.
We went back six weeks later to have another surgery to remove the oil. At that point we learned that his retina had partially detached again and they were unable to fix it. It remains that way to this day, almost eleven years later. Over the next few months, his surgeon retired, and a different surgeon in that practice performed laser surgery on his good eye to try to prevent future retinal detachments. I wasn’t thrilled with the bedside manner of that surgeon, so I asked my retina specialist for a recommendation. She gave me the name of Dr. Mukai at MEEI (Mass Eye & Ear Infirmary). We switched to him and he was a godsend. He was the one who first told us about Stickler Syndrome and diagnosed us.
My boy endured seven months of eye drops every single day, sometimes as much as four times a day. He missed out on fun activities, and his future was forever changed. It was hard, but he’s such a happy, kind, fun-loving kiddo today.
Shortly after this, I was at my regular yearly checkup with my retina specialist. Usually my appointments go well, but that day was different. My eye pressures were just barely over the normal range, and I had some holes or tears in my retina (I’ve had both and I can’t remember which were at which time). I ended up getting cryo in the office, which is when they stick a needle in your eye to essentially “freeze” the holes/tears to prevent them from getting bigger. I needed two spots frozen, so that’s two jabs with the needle. Yes, I was wide awake for both. I was also referred to a glaucoma specialist due to my eye pressures.
I went to the glaucoma specialist at Yale, which kind of felt full circle. That’s where I had my initial glaucoma exam at six months old. After a round of testing, the doctor couldn’t tell if I have glaucoma. So, I am now listed as a glaucoma suspect and I take eye drops in each eye every day to hopefully prevent glaucoma from occurring. Since I only have usable vision in one eye, it’s more of a preventive measure. I wasn’t thrilled about this, but now I’m used to it. It really isn’t bad at all.
Life continued on, with all of its wonders and challenges. One summer we turned our yearly trip for eye exams under anesthesia (EUA) for all three boys into a mini vacation. We found out our oldest had holes in his retina and needed them fixed, so we ended our vacation with him getting laser surgery. This is the one and only time I went in with any of the boys, which led to my emotional reaction to him getting put to sleep that I mentioned earlier. The surgery was a success and we went on our merry way. Then, we found ourselves dealing with another scary eye situation two months later.
Our second eldest told me during a fit of frustration that he had been seeing wavy lines for a few days. My stomach dropped and I immediately called the eye specialist. I no longer bother calling the local doctor first. We brought him in immediately and sure enough, he had a detached retina. We braced ourselves to go through this again. He had surgery to repair it. At this point we had been through multiple surgeries and exams under anesthesia with our three boys, so we knew what worked.
Over the course of the next two years my sweet boy would have 8 eye surgeries – three for detached retinas (two in one eye because the first repair didn’t work and they had to do it again with the oil added in and one in the other eye with oil), two oil removal surgeries, one emergency surgery because they didn’t get all the oil out and his eye pressure spiked to 57 (for context anything over 21 is considered high). This spike caused him to have major eye pain, and then he began vomiting and becoming lethargic. It was terrifying. He also had two cataract surgeries. There were times we were in Boston on a weekly basis, sometimes two or three days a week.
During one of my son’s retina surgeries, he ended up staying overnight in the hospital simply because the surgery was done late in the day and by the time he got out of recovery it was after ten o’clock at night. I stayed with him. It was so weird to be in the hospital overnight again. It had been thirty-five years since my own stay as a child, and now I’m staying with my own kid.
This kiddo is particularly sensitive to sensory issues. He DID NOT like waking up with an eye patch on. He was experiencing some minor emergence delirium issues and he kept trying to take the patch off. He was thrashing his head around and not really hearing or comprehending us or the nurses when we tried to calm him down. Finally, they got ahold of the doctor and he was allowed to take the shield off (a plastic or metal cover that goes over the patch to protect the eye from any impact). This helped him calm down, and by the time we were ready to go to sleep he agreed to put it back on for the night. He struggled with this for his first few surgeries, but by the last few he was much better.
We thought the cataract surgeries would give him excellent vision. When my dad had cataract surgery on his good eye at age fifty, he suddenly didn’t need glasses anymore. My whole life he’d had big, thick glasses and now he didn’t wear any. It was so weird. Unfortunately, that’s not how things turned out for my son. We’ve tried bifocals and single vision glasses, but he still struggles. He was a voracious reader, but now it’s hard for him to see words on a page clearly. It breaks my heart. He does enjoy audiobooks though, so he is at least able to consume books that way.
Since then, things have been stable for all us. Mostly.
A year ago we had our yearly exams with our local eye doctor. It was the first time my kids were seeing her, and she happens to be a low vision specialist. To our complete shock, she said that two of my kids are legally blind, and they will be unable to drive. We did not expect this at all. When they turn eighteen they will no longer be considered legally blind, as the criteria is different for kids versus adults. They will still not be able to drive though. My oldest has his permit, but my middle kiddos won’t be able to have that privilege. It was, and still is, a hard thing to accept.
This summer, during the first week of July, I started seeing an oddly shaped black area in my vision as I was reading. It wasn’t like my usual floaters. It was much bigger, and it mainly happened when I was reading and I would move my eyes from the end of one line back to the left and down to read the next line. By the holiday weekend, I was getting nervous. That Sunday I started also seeing what looks like a big piece of mesh. I was describing it as a big piece of bubble wrap, but when my specialist used the term mesh to describe it, I realized that’s just what it looked like. I got really scared. I’ve been through enough with myself, my boys, and my dad to know that something was going on. My mom ended up taking me to the emergency room at Mass Eye & Ear that afternoon.
I was panicked but also calm at that point. I figured if something were wrong, I was in the best place to get help. After sitting in the emergency room for five hours, I finally got called back at around 11 PM. They had to call in another ophthalmologist because they were so backed up. I had pictures and scans done and explained what I was seeing to multiple people. Finally, I saw the doctor. This man looked me straight in the eye and told me at least three times that he had no explanation for what I was seeing. He said my retina was stable, which was a big relief. I was glad my retina was okay, but I KNEW something was happening and I left feeling a bit dejected. We got out of the hospital at 1 AM and stayed at my aunt’s house 30 minutes away instead of driving all the way home.
When I got home the next day and my vision cleared up, I was able to read my discharge paperwork. It said, in bold print, that I was having a posterior vitreous detachment. I was livid. That 100% explained why I was seeing what I was seeing. I have no idea why the doctor repeatedly told me he had no explanation, gave me no diagnosis, but put this on my paperwork.
Later that day my retina specialist’s office called and said my doctor wanted to see me. Two days later my husband brought me up for a checkup. She confirmed what my paperwork said and explained what was happening. I was seeing my vitreous as it was floating around while it was detaching. The process of it detaching could take months, and during that time I was at an even higher risk of a retinal detachment, which could potentially leave me blind. That was terrifying. I was put on restrictions to try and prevent any retinal issues. Those restrictions included things like no bending over, no lifting, no sweeping, and NO READING. I have reached the point in life where reading can now cause me harm. I had to stop reading, and I had to stop going to my hula hoop class, which had just started back up again after a long hiatus. I was devastated.
There were other challenging things going on in my life at the same time, and it all felt overwhelming. Through that, I spent a lot of time thinking about what I could do, and what I would want to do. That is how I ended up writing. I’ve wanted to do it for a long time, and suddenly it felt like I could think clearly enough to put my thoughts down on paper. Writing has also been very cathartic for me.
I went back to my specialist two months later and the vitreous is almost completely detached, which is good. My retina was still stable, which is even better. I am now allowed to read 1-2 hours a day and do some light lifting, but I still have to be somewhat careful.
My dad has had the most issues out of all of us. I’ve only shared a snippet of what he’s been through. I could write a whole book about the procedures he’s had and what he’s been through. He is in his seventies now and his vision is deteriorating. It’s frustrating for him but I think he’s finally accepted the reality of things.
I’ve shared a lot of our story, with a focus on our eye issues. We (myself and my three sons) all have hypermobility. We can touch our thumbs to our forearms, our elbows and knees hyperextend, and we have some other “unusual” bendiness. We all also have smaller jaws, which leads to crowded teeth. We have flatter facial features, long fingers (some call them piano hands) and long toes. I’m sure my dad probably has some or all of these as well, but I’ve really never asked. He does have the biggest hands I’ve ever seen though.
My husband and I on our wedding day, and us this past summer on our 18th wedding anniversary.
While I would LOVE to have good vision, and to have both eyes work properly, I also whole-heartedly believe that everything I have experienced has made me who I am. I think I am a very compassionate, understanding, empathetic person. I realize that we don’t always know what someone else has been through or is going through. I think my experiences have given me more patience. If I could change my past and erase Stickler Syndrome and all of my related eye problems, I wouldn’t do it. As hard as some things are, it’s all a part of who I am and I love myself.
To The Parents of Children With Stickler Syndrome
I want to provide some optimism and comfort to others, especially parents of Stickler Syndrome kiddos who don’t have any prior experience with this disorder.
I’ve seen countless parents ask what their child’s future will be like upon getting a Stickler Syndrome diagnosis. Will they go blind? Will they be able to walk? Will their child be able to drive, will they be able to work, will they be able to have a family, etc. I understand the fear & anxiety. As parents we want the best for our children. I understand the guilt we feel for “giving” our kids Stickler Syndrome - whether it was passed down genetically or it was a spontaneous mutation. I understand the confusion and dread we all feel when first learning about all the different possibilities this diagnosis can bring.
I also understand that no parent is to blame for their child’s diagnosis. I have felt guilt over passing Stickler Syndrome on to three of my 4 kids, yet I have never once blamed my dad for passing it on to me. I can see and empathize with both sides of the equation.
I am the second of 3 generations of Stickler Syndrome in my family. I have the unique perspective of being the child, patient, and parent of people with this disorder.
My dad & I both graduated from a top business college. We both got married and we each had 4 kids (none of my siblings got Stickler Syndrome). My dad ran a successful family business for 40 years. It was a produce store and garden center, which requires A LOT of physical activity. I worked there growing up. After college I worked in IT and then I transitioned to Special Education. I eventually became a work-from-home and then a stay-at-home mom.
We both were/are able to drive, we’ve owned homes, and we’ve lived fairly “normal” lives. Sure we go to the eye doctor more, but that’s okay.
My kids are involved in non-sports activities like Scouts, D&D, cooking class, robotics, book club, etc. They run & play and act like all other kids their age.
The point of this very long post is to hopefully provide some reassurance to worried parents out there. I won’t deny that there may be challenges in your child’s life, but Stickler Syndrome won’t steal everything from you or them. There is a whole world out there waiting for our unique contributions. With love, support, and acceptance, life can be beautiful.
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