Little Specs

I didn’t expect to find out this way. I wasn’t quite ready for confirmation yet that my youngest child also has Stickler Syndrome. The blood work had been sent off to genetics weeks prior, and even though I studied his facial features and saw right away that his tiny baby elbows were hyper-mobile (some call it double-jointed), I still grasped at the unlikely hope that he didn’t inherit it. We were wrapping up a routine ophthalmology appointment for my SS two year old when the doctor turned her focus on the nine week old baby in my arms. “Has he been tested for sticklers?” she asked as she came towards us with her ophthalmoscope. I wanted to stop her. I wasn’t ready for what she was about to do. I wanted to live in a fantasy of denial for a couple more weeks and lie to myself about the signs I saw telling me he too probably had it, but she began checking his refraction before I could stop her. As she examined his eyes and quietly exchanged lens for lens, holding each in the space between her scope and his eye to see how the light bent against his retina, I could tell without her saying it- he was near-sighted. Just like both his brothers, just like me, and just like his Nana. This was the strongest marker that he too has Stickler Syndrome. My heart sank. While we all have varying severity of the disorder in my family- ranging from retinal detachment and multiple eye surgeries in the first year (for Shep), to a mild case of myopia and a little flexibility (me), time would tell what Henry’s case would be like. For now, one thing was for sure: he was about to get glasses. While I am so grateful for modern medicine and the knowledge we have to get his vision corrected at such a young age, gifting him the ability to see, I selfishly ache for the fact that I won’t get to gaze at his beautiful little face for the rest of his childhood. My sweet boys look so different with their glasses off, and while they may not understand it now, someday they will look back and appreciate the photos I took when I ask them for “one without the glasses,” so we can watch them grow through photos without the frames.

At Henry’s officially ophthalmology appointment, he was four months old. The doctor confirmed his refraction was -4.5. (It has now worsened to -6 since his eyes have grown which is to be expected.) He explained that they don’t usually prescribe glasses until babies are one year old. Now what sense does that make? Whomever made that “rule,” has clearly never needed glasses. If you’ve read my other posts about our experience in our Stickler Syndrome/TOF diagnosis, you will know that I have found my voice in an appointment if something doesn’t sit right with me. Just because a medical professional is suggesting something, doesn’t mean you have to take their word for it. The doctor explained that Henry didn’t need glasses yet because “babies’ world is right around them, right here,” he motioned with his hands in a bubble about 12 inches from his face. His assistant repeated this a few moments later. They were wrong. That wasn’t good enough for my son. I explained that my other son received glasses at eight weeks old back in the US. His ophthalmologist at Lurie Children’s in Chicago explained that infancy was a crucial time for visual and cognitive development, that by correcting his vision as soon as possible, it gave his brain the effect of “more pixels,” like on a monitor or TV. I vocally disagreed with this UK doctor and told him I think Henry’s whole world is beyond 12 inches of his face. I explained that when I smiled at him while pushing him in his buggy, he doesn’t smile back, because he cannot see me. Once I lean in closer to him, he responds with a smile once I am in his visual field. When he is playing across the room and stops to scan the room looking for me, he cannot see me. These are all part of developmental milestones. When he is in his hospital bed after his open heart surgery, I want him to be able to see me walk through his door and know the second I’m there. I didn’t have to say much more. The doctor immediately agreed to write his prescription.

Blood results came back for all three of our boys a few weeks later and they all tested positive for Stickler Syndrome. We knew Shep had it, and suspected Dexter may as well, but having it proved by genetics is certainly something we want documented. There is nothing much that we do except treat the symptoms and especially keep a close watch on their vision and retina’s since retinal detachment is a strong possibility with the disorder. We now have three boys in glasses. Dexter (5 yo) is -10, Shepard (2.5 yo) is now -6.5 in his non-surgical eye, and Henry (8M) is -6. The great thing about the NHS here in the UK is that the glasses are covered, meaning we don’t pay out of pocket for them. Extras like lens thinning and anti-glare are an added cost, but it is a huge relief compared to what we paid per pair back in the US. Henry has taken to them just fine, and I take every opportunity to smile at him from across the room to see him smile back.

One thought on “Little Specs

  1. Hello, I’m from Lages, a city of almost 170 thousand inhabitants in Santa Catarina, Brazil! I have a four year old son who was diagnosed with sticlker syndrome when he was 4 ½ years old! has 10 degrees myopia and astigmatism! has mild bilateral hearing loss, hip dysplasia loosening in the joints, has been talking for almost 4 years and still has difficulty! because my husband and I were long-term relatives, the mutations met and generated the syndrome! I know little about her and I know that in Chicago there are great specialists in the case! your children are beautiful ! each phase in our lives and theirs is a victory! Renata

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