by Rachel Nichols
Whenever my son was small and I would take him out into the world, people would constantly comment that he looked like he was about to fall asleep. I used to correct them, but after the 500th time or so, and constant looks like I was speaking a foreign language, I just smiled instead.
Spencer before surgery
My five-year-old son was born with Say Barber Biesecker Sydrome. The most striking think about SBBS is the very distinct facial features. Spencer was born with what is called dysmorphic features: low-set ears, bulbous nose, thin lips, small jaw, wide-set eyes, small eye openings (Blepharophimosis) and droopy eyelids (Ptosis).
Spencer was almost a week old before he opened his eyes. He was in the NICU for many medical problems discovered after he was born, but his eyes really concerned me. When he finally did open them, his eyelids seemed very thick and heavy. Upon closer inspection, genetics concluded that he had Ptosis, and then scurried back off to their cave somewhere underneath the hospital to find what box all my son’s symptoms fit into.
Upon discharge from the hospital, my son was referred to three different eye doctors. We labeled them Regular Eye Doc, Fancy Eye Doc, and Super Fancy Eye Doc. Super Fancy Eye Doc was the first one to really explain Blepharophimosis and Ptosis to us. Blepharophimosis basically means that Spencer’s eye openings are smaller than the norm. Ptosis means Spencer permanently looks like Sleepy from Snow White. Super Fancy Eye Doc concluded that while his Blepharophimosis wasn’t bad enough to do surgery on, his Ptosis was severe enough that it was interfering with his line of vision.
Surgery and Follow-Up
Spencer after surgery
We scheduled a bilateral Ptosis repair, which, upon Googling, looks like a pretty brutal surgery. We were preparing for the worst, but it actually was one of the easiest surgeries Spencer has ever had. Basically, the doctor made three small incisions in his eyebrow, took some excess tissue out, and sutured some muscles to make the eyelid tighter. The worst part of the surgery was the few months after, because Spencer slept with his eyes partially open. That was pretty creepy, and we had to put ointment on his eyes so they wouldn’t dry out. He goes back to Super Fancy Eye Doc once a year and will eventually need a revision of the surgery when he’s seven or eight.
We don’t see Fancy Eye Doc anymore. She was another specialist who concentrated on how his muscles in his eyes were developing, which she eventually concluded were normal. We see Regular Eye Doc twice a year. He’s still a specialist, but not as fancy. Because of Spencer’s narrow eye openings, we get yearly eye exams under anesthesia so they can use an instrument to look behind his eye. We know a lot of kids with Spencer’s syndrome are farsighted, so we watch for any issues that might develop there. We also check his vision for nearsightedness due to an astigmatism (which was caused by the Ptosis) and a long family history of vision problems. So far we’re on the bad side of normal, but we know it’s just a matter of time before he’ll need glasses.
Spencer’s eyes aren’t perfect, but they’re better than they were. We still get the occasional “He looks so sleepy” comment, but not nearly as often. And when we do get a comment, it’s often when he’s actually sleepy.