Stickler Syndrome Diagnosis – Our Story

Me (left) and Shep (right) Many Stickler babies look similar due to common stickler facial features: Mid-facial hypoplasia- or flattened nasal bridge and sometimes cheeks, small nose, large eyes. They often grow out of these features.

This is a long read. Here are the highlights:

  • 3 generations (that we’re aware of) of Stickler Syndrome Type 1 -COL2A1 Gene (My mom, Me, one of-possibly both- my sons) Mostly ocular and joint symptoms. autosomal dominant: 50/50 chance of passing it on to offspring. Collagen deficient disorder
  • How it presents in each of us : Mom: high myopia (glasses as a toddler), cataracts in early thirties, lattice degeneration of retina, hypermobile, Scoliosis, hip dysplasia as an infant, osteoarthritis later in life, leading to joint replacement in 40’s. Me: High Myopia (glasses as a toddler, -7 refraction), cataracts in early 30’s, lattice degeneration of retina/scarring from vascular inflammation on retinas, flattened facial features as an infant, large eyes, hypermobile (also known as “double-jointed,”) beginning stages of arthritis (33y). My Sons- Shep: High myopia (glasses at 8w, -6) detached retina at 6m, hyper mobility, flattened facial features, low muscle tone (late crawler, walker). Dex: High Myopia as toddler (-10 at 3yo, put on diluted atropine drop to decrease chance of worsening), hypermobile.
  • We were not aware of our diagnosis (my mom nor I) until Shepard’s detached retina at 6 months old, (failed a routine eye exam). his clinical diagnosis led to me getting genetic testing for a variety of collagen disorders, although we felt we all had it after reading about Stickler syndrome. I tested positive for SS Type 1. I don’t think its necessary to test my boys at this time. My brother carries no symptoms, my sister has tested negative for it, even though she is also myopic (moreso the me, interestingly enough.)
  • Shep surgeries: scleral buckle at 6m, vitrectomy with silicone oil at 7m, oil removal and prophylaxis on opposite eye at 9m, cataract removal (as a result from oil in eye) at 13m.

It started with a spot. A small, cloudy, blue-ish, white spot that I noticed on his eye the minute I met Shepard and pulled him out and on to my chest (yes, I Kourtney Kardashian-ed my births). It was a beautiful moment of meeting our second son, yet in the back of my head I had a lingering feeling of dread seeing this tiny imperfection. I didn’t say anything to anyone those first days in the hospital- not even my husband, because if I said It out loud, it would jolt us off our cloud and into the reality of worry and fear. When a baby is born, we marvel at the perfection of every little body part we’ve created, and this one had a flaw that we couldn’t explain. Ten tiny fingers, ten tiny toes, and a spot on his cornea that would change our lives. Eventually, we had ophthalmology appointments that kept referring us to the next level because the nature of this corneal opacity was so odd. It was there with no explanation, something had to put it there. It was an unexplained scar on the eye that happened in utero, and we were concerned it would affect his vision. 

Once we reached the level of Pediatric ophthalmology at Lurie’s Children’s hospital in Chicago, we were told it would not affect his vision as it was not centered on his eye. However, at eight weeks old, the doctor made another discovery we weren’t expecting and completely unrelated to the mysterious spot. “Is anyone in the family near-sighted,” she asked. “Yes, I am, quite severely,” I answered. “He appears to be significantly near-sighted as well.” This didn’t come as too much of a surprise, as I got my first pair of glasses at 2 1/2 years old, and my mom did as well, just as young. 

Shepard seeing himself in his new frames for the first time. 8 weeks old

So we saw this as a sign- this odd spot on his eye that he was born with, led us to discover early on that he needed glasses, and the earlier the correction, the better, not that its something that can be “cured,” but for an infant, correcting his vision is crucial in motor and cognitive development. We ordered his glasses and scheduled a routine follow-up appointment for three months later to come back when he was six months old. 

At this next appointment, we weren’t expecting much, besides the hope that his vision hadn’t worsened, as it was already at a -6. They first tested his vision in the eye with the scar on it: no change, all looked well. They covered that eye, and tested the other. He immediately lost eye contact with the small instrument the tech was holding in front of his face. No eye contact, looking down, and quite obviously not able to see anything, looking up, down, and everywhere except the object in front of him. Matt and I exchanged glances across the room. We knew our boy, and this was not right. We knew this was concerning. The doctor came in and tested him as well, with the same non-visually responsive outcome. Everyone chalked it up to him having a short attention span as 6 month old babies do. They did not bother to dilate his eye and have a closer look, or investigate this any further that day. They simply told us to come back in 3 months and they’ll start with that eye the next time. 

I left with a pit in my stomach. This wasn’t normal. He obviously couldn’t see out of that eye. But we trusted our doctor. Afterall, she was the head of the department (and about 70 years old) so she seemed to have the most experience of anyone there. We didn’t push back and voice our concerns. I will always regret that, and have not made that mistake in a doctor’s appointment since. 

By the grace of God, we happened to have Shepard’s six month check-up the very next day with his pediatrician. I mentioned the concerning eye appointment the day before. She stopped her exam and flashed her pen light in his right eye again and said “that’s interesting, because I didn’t see a red reflection in this eye when I checked it. If you hadn’t just been to the opthamologist yesterday, I would be sending you today to get this checked out. Im not satisfied with a three month follow up. I will call them and demand they get you back sooner.” 

 Three days later I was packing our day bag for the two hour commute back into the city during rush hour to see the same team who had brushed him off the week before. I don’t know if they remembered us, or the fact that they sent us home instead of looking further into the reason why this little boy failed his right eye exam. The same doctor looked into his dilated eye, and said, “I think he has a detached retina. In my 42 years of my career, I have never seen a chid this young- [6 months old] – with a detached retina. He needs surgery to repair this, and this needs to be done this week, for any chance to save his eyesight.” 

We headed back home and waited for the doctor’s call to tell us which of the two retina specialists in the area would see him that day. Meanwhile, we were updating our families, who were standing by as impatiently as us to hear our next move. My sister, having a medial background as a PA (Physician Assistant) immediately began searching online any condition that would cause a six-month-old to have a detached retina. She sent my mom and I a link describing Stickler syndrome via text: “Oh my gosh, I think you guys have this.” My mouth dropped reading the signs and symptoms. Not only because a few of them described me, but more of them described my mom. She had silently suffered from osteoarthritis for years, had joints replaced at a variably ‘young,” age, had a number of eye abnormalities (like myself), and other symptoms on the list that no doctor has ever been able to draw a connection or diagnosis from. She always suspected these symptoms were a cause of something “bigger,” but no one could tell her what that may be.

We received the call from the ophthalmologist shortly after leaving her office and were told one of the specialists would take us that afternoon. When we arrived, the small waiting room was packed, with standing room only. We later found out that the Dr. had just returned from time off so he was catching up with his patients, as well as taking over some of his partner’s patients that day, and he STILL accepted Shep as an immediate add on once he heard his case.

Dr. Mike Shapiro walked into the exam room, wide, semi-forced, (but appreciated) grin, crooked yarmulke, and a classic jewish nose. He was an older version of a balding Fred Armisen, which made me feel at ease in an instant. He was seemingly unphased by the chaos that awaited him outside the exam room, but I don’t think he sat for a moment while he was with us. After confirming the detached retina, he booked Shepard for surgery the next day on his already-full surgery schedule. I was trembling at my chance to bring up the suggestion of Stickler syndrome, knowing that I would probably have to back up my reasoning with the description I had read about only two hours prior and that he has probably never heard of. I didn’t have to, because he brought it up first. “There are a couple rare genetic conditions that would cause this in an infant. One of them is something called Stickler Syndrome,” he said. “Yes! I think we have that!” I was shaking and holding back unexplained and excited tears as I rattled off our family history. I may have seen a small gleam in his eye that matched my excitement. He agreed that we sounded like strong candidates for a diagnosis of this condition, and mentioned he had studied stickler’s for years, had the highest number of stickler’s patients in the Chicago area, (I found out later that many patients traveled from Indiana and Michigan and further just to see him) and he affectionately referred to Stickler syndrome as his “pet hobby,” at a later appointment. It took everything in me not to put my baby down and bear-hug this sweet man. I felt that fate, God, the universe, et al had brought us to him that day, despite the fact that he had every reason out in that waiting room to turn us away. I cannot say enough praise for Dr. Shapiro. He has been described in FB SS support groups as being a bit quirky, and lacking bedside manner. His bedside manner is of no importance to me. It’s obvious to me he has a real fire in him to further research this rare and often misdiagnosed condition, and that’s exactly what I want in a doctor. He is a wealth of information, the most dedicated doctor we have worked with, and his passion for medical science and SS research is unwavering. He will not turn any patient away, surrounds himself with a team that will fight for insurance coverage, stay far past closing hours to fit in one last procedure, and puts his patients first. When I told him we were moving to London, he took the time to find a referral for us. (More information on Dr. Shapiro’s practice can be found here.)

Brave boy heading into his first surgery for scleral buckle.
Post op
Waking up the morning after scleral buckle surgery

Our lives changed that day with that diagnosis. Shepard would endure four surgeries over the next seven months. At the moment, he is the youngest SS patient documented in the United States to have a giant retinal tear repaired. After his vitrectomy surgery, his recovery required him to remain face down for 12 hours a day over a two week period. He was seven months old. When I asked Dr. Shapiro how we were supposed to do that, he reluctantly replied that he didn’t know- there is no data for an infant with this repair and recovery. Dr. Shapiro has referenced his experience treating Shepard in Stickler related presentations (including speaking at the SIP conference last year) and in medical papers he has written since.

On July 11th, exactly nine months from the day we found Shep’s detachment, the doctors were able to document vision in that eye for the 1st time. I hadn’t let myself get too emotional in those nine months. Matt and I were all business when it came to this process, which helped us maintain a level-headed mindset throughout the surgeries and multitude of appointments. On this day, I let it happen. I cried the whole way home from the doctor’s office while Shep napped peacefully in the back. We had done it. With the help of Dr. Shapiro, we had restored his vision.

EDIT: While we weren’t able to request the specialist that Shapiro referred us to now that we live in London, Shepard is being seen at the same hospital that Shapiro recommended. At our most recent visit, the retina specialist fellow (an Irishman) asked who did Shep’s surgeries in the states. He happens to have seen Shapiro speak at a conference, and referred to him as one of -if not the- best Stickler/Retinal Specialists in the US. I can’t tell you how warm that remark felt, being 4000 miles away from “home.”

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