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March 2009

Hope in Sight: When Our Baby Couldn't See

By Amy Epstein Gluck

Ten fingers, ten toes – the bench mark of a healthy newborn baby. But anyone who has children knows that sometimes there are issues with your baby, with your toddler, that you never planned for and were not picked up on the 3-D sonogram.

I had a fairly uneventful pregnancy. After all, this was my third child. I knew what to expect with a newborn and how to handle what I thought was the most important newborn issue – sleep! Yet weaning my first daughter off of her pacifier years earlier and trying to potty train my obstinate 3-year-old could not have prepared me for the tribulations that we were about to face with our 6-week-old baby Sam.

“I don't mean to alarm you, but I don't think he can see,” said Hilary Deutsch, our friend and pediatrician of six years. I had called her the previous week because I had noticed some rapid eye twitching in Sam. “Oh, that's just nystagmus,” Dr. Deutsch had told us then, “It's probably nothing.”

Or . . . not.

After making the unthinkable pronouncement, Deutsch immediately secured an appointment for us with a pediatric ophthalmologist in Gaithersburg, who agreed with Deutsch: Sam simply could not see, though nothing appeared wrong with his eyes. In fact, this ophthalmologist told us that she thought Sam was suffering from either Leber's congenital amaurosis or a developmental delay called delayed visual maturation (DVM). For Leber's, which is typically characterized by nystagmus though there is no other outward problem with the eye, there is no cure, no therapy, no surgery, no hope – the child is simply blind for life. For DVM, you go home and wait, and if the vision comes in, usually within six months to a year, it is DVM. If not, the problem is something else to be determined.

When I asked the doctor what the odds were for each diagnosis, she said she could not give me any odds or percentages. So there I sat in her office, almost somnambulant, while my universe seemed to slide out from under me. The doctor instructed us to go home, wait and then return in three weeks. Not likely.

A visit to the Children's National Medical Center (CNMC) ophthalomology department, an electroretinogram (ERG) and an MRI yielded no further answers. Though his eyes were fine anatomically, Sam could not see, and at this point we simply had to wait to determine what condition would present itself. The uncertainty at this chaotic time was what I could not wrap my arms around. As a lawyer, I was used to dealing with answers to problems. Do some research, find the solution. I wanted surgery for Sam or therapy to fix him. Unfortunately, nothing could be done except to wait, an almost untenable situation.

When the doctor at CNMC told Deutsch that my son's condition was so rare that he saw maybe a case or two of it a year, I realized that despite CNMC's excellent reputation and the doctor's status, I needed a different doctor. Frankly, I did not want the doctor who rarely saw Sam's condition; I wanted the “man,” the best guy, the expert in dealing with Sam's rare condition.

Since we began this journey with Sam, I had been e-mailing a steadily growing group of family and friends about his condition, and the list expanded as friends heard about Sam and offered their help. I sent a missive to this e-mail list explaining the full medical situation and asked if anyone could connect us with a doctor who had any expertise with DVM or with kids who were unable to see for reasons medically unknown.

Within hours, my faux-aunt (you know, those family friends who have known you since you were a baby), Dale Kurland, told me she called a friend who was on the board of directors at Johns Hopkins. “Yes!” I think, recalling Hopkins's reputation. The grapevine never fails to deliver. Kurland told me to call Dr. Michael Repka at Hopkins's Wilmer Eye Institute, and I was seen within days.

Our appointment with Repka at the end of April 2005 totally soothed my nerves, which were ragged and exposed from worry. He told me he saw kids like Sam “all the time,” and he gave me some possible explanations for Sam's inability to see.

He did not think Sam was blind because he had eye movement, which cast doubt on the dire diagnosis of Leber. Repka explained that the process of myelinization occurs in babies' brains while they are still in utero. Myelinization is like insulation of the nerves in the brain, which allows the nerves to process information from the retina to the back of the brain. So if the myelinization process is incomplete, sufficient myelin may not surround the nerves to get the information where it needs to go. We still had to go home and wait for Sam's vision to come, but at least we had a possible reason for what was causing the anomaly. I could live with that.

“Bingo!” I thought, “I've hit the jackpot with this guy.” If he wasn't exactly the man with the plan to heal Sam, at least he was the man with an explanation. I felt relief. If I couldn't find a doctor to fix what was wrong with my son, information was the next best thing.

What happened over the next several weeks was nothing short of a miracle. Two wonderful women, Bev Upshire and Debbie Dorcus, from the Montgomery County Infants and Toddlers Program, came weekly to the house after an initial assessment. While Dorcus did physical therapy with Sam to help him continue to reach developmental milestones, Upshire acted as his vision therapist. Over the next several weeks, each time Upshire came to work with Sam, we could see his visual field increase and incrementally improve. Literally, I saw Sam's vision come in as Upshire used different toys to stimulate him and determine his focus. She saved my sanity because her visits and their results bridged our continuing visits to Repka and sustained me as we observed Sam beginning to see.

By July 2005, Sam's DVM was officially “resolving,” and by October of the same year, Repka considered it resolved. He saw no further issue with Sam's eyes but asked us to return in three months. We were overjoyed and relieved; we felt like we had dodged a bullet. We had a party in December with 80 people to celebrate. But just like characters on soap operas come back to life or come out of their 20-year comas, we were not done with Sam's issues.

On Sam's first birthday in February 2006, we drove him to Hopkins for a checkup with Repka while we blithely tossed around the idea of securing an ophthalmologist who was closer to home. After all, we hardly needed a neuro-ophthalomologist anymore. We took Sam into the exam room; Repka took a look into his eyes, then straightened back up and said, “Well, he's nearsighted.” I said, “How nearsighted?” Repka, not a guy usually given to exaggeration, responded, “Horribly nearsighted.”

What does that mean? At age one, Sam's ability to see objects farther away than the front of his hand was almost nil. His myopia measured at a -7. To understand how poor his vision was, consider that people whose vision measures at -4 say they are blind without their glasses.
Repka explained to us that he wouldn't give glasses to Sam now because, in his experience, children that young don't benefit sufficiently from them. He also told us that extreme myopia often goes hand in hand with congenital stationary night blindness (CSNB) in boys, even though it is a somewhat rare condition. Sam's prescription could worsen, but as long as his retinas remained intact, Sam would keep his vision. Repka's words still felt like a punch in the gut. I, of course, had thought we were done. We had our beautiful, healthy boy and he could see fine. I did not absorb Repka's words, and my husband had to re-explain to me what he had said to us – it was quite a different drive home.

Finally, in early July, Sam got little round glasses that wrapped around his ears. Within days, he began walking. We worried after he didn't walk at 13, 14, 15 months that there was something else wrong, but Dorcus, his physical therapist, assured us that once he got his glasses, he would be fine. And he was. We went to Disney World that summer with my parents, and it was pure pleasure to see Sam's face take in the wondrous sites.

We didn't even think about the night blindness until that Halloween. We dressed up Sam in a Tigger costume, and he was so excited to go trick-or-treating with his big sisters. However, he fell into shallow trenches in front of two houses and into a shrub next to the walk of a third poorly lit house. I immediately e-mailed Repka.

At our next appointment, I was eager to confirm or dismiss a diagnosis of CSNB, but we opted not to put Sam, then 2 years old, under anesthesia for a second ERG. Like DVM, though unrelated, there is no treatment or cure for CSNB. The rods (the cells) that allow night vision do not function well or at all, and the patient's eyes simply do not adapt to dimming light or darkness. Although we were anxious, we agreed that since there was no treatment for CSNB, there was no point to put Sam under only to assuage our new need for an answer. Repka, my husband and I decided to wait until Sam was older so that he could describe to us what he saw or didn't see in the dark.
Of course, over the next several months, he cried and complained whenever a room was “too dark,” as he would say. One morning I woke up to him screaming in his room, “I'm so scared!” My husband had accidentally turned off the bathroom light outside of Sam's room that we normally kept on for him.

In September 2007 we decided that a baseline ERG would help determine whether or not he had CSNB and see if his vision had worsened. At 2 ½, Sam had become terrified of going to the doctor's, which made an in-depth examination difficult for any ophthalmologist. The ERG was no surprise – Sam had CSNB. Though his eyes had some rod function, it was nowhere near the level of normal. His vision had worsened to -8.5, but, thankfully, his retinas seemed fine.

What does this all mean? First, I have learned to consider Sam's vision as a work in progress. It may get worse, but they make lenses and glasses up to -20. Who knows, maybe in the future, medical techniques may advance sufficiently to rectify Sam's nearsightedness and even his CSNB (He is not a candidate for Lasik, which currently only works on patients who have a -7 prescription or better). He may never drive at night down a country road, but then again, most of us don't. Second, we will do ERGs every few years to determine any further detrimental changes in Sam's rods and cones. For the present though, he is an exuberant, happy little boy with a sunny nature and an uncannily accurate ear for pop music (especially Fergie). He loves “Go, Diego, Go!” trains, trucks and his sisters. Sam loves when his daddy reads to him, and he loves playing outside with his friends at school. As Sam continues to grow, hopefully, medicine will continue to advance, as well.

Amy Epstein Gluck is a practicing attorney who lives in Bethesda with her husband and three children. Her e-mail address is