Our Aniridia Story

I have vivid memories of E’s birth and the time in the hospital with her.

I remember D being so excited about her, holding her tightly, and not wanting to give her up except for me to nurse her.

I remember him whispering to her “You are perfect.  Absolutely perfect.”

I remember him reading books to her from the first day she was born.

I remember holding her and having her nurse perfectly from the first try.

I remember singing two of my favorite hymns, “Great is Thy Faithfulness” and “It Is Well”, to her when she was a little fussy.

I remember distinctly the many friends and family that came to visit her in the hospital – so many people that had prayed for her already and that loved her dearly.

I also remember remarking that we couldn’t tell what color her eyes were.

I remember that she didn’t open her eyes much at all, even when seemingly awake.

I remember that she flinched whenever the flash of the camera went off.

I remember not paying much attention to any of that – she was my first baby, so I assumed that was all normal!

Diagnosis of Aniridia

E was almost 48 hours old when I heard the word “Aniridia” for the very first time.  The on-call pediatrician at the hospital where she was born was completing the final head-to-toe well-baby checkup before discharging us to send us home.  She opened E’s eyes, looked at them, closed her eyes again, thought for a moment.  She then opened E’s eyes again, closed them again, and calmly said, “Do you have any eye conditions that run in your family?”

We both said, “Well, we’re both near-sighted?”

She said, “Nooooo, this would be more than that.”

We said, “Well, a strabismus here and there, but nothing more significant than that.”

She said, “Interesting.  I believe that your daughter has an eye condition called Aniridia.  I’m not an ophthalmologist, so I can’t officially diagnose her, but I’m quite sure.  It means she doesn’t have any irises in her eyes.  She’ll need to wear sunglasses when she’s outside and will probably wear glasses.  And she’ll need to be followed by a pediatric ophthalmologist.”

We said, “Oh OK.”  That didn’t sound like a big deal.

Then she said, “I believe that sometimes this condition can be associated with kidney tumors, so we’ll need to get her checked for that.”

We said, “OK…so should we do that after we get home sometime soon?”

“No, we will get that scheduled now before you are discharged.”

The she left to make phone calls to ophthalmologists and get an ultrasound scheduled for E.

I distinctly remember D holding E after that visit, and saying “I don’t care what she says – you are still perfect.”  I also distinctly remember sitting in her new nursery with her at home that evening, once again singing “Great is Thy Faithfulness” and “It is Well” to her again, this time with tears in my eyes.

And I can honestly say, 10 years later, that D was right:  that she IS perfect – perfectly, amazingly herself.  God’s faithfulness is indeed great, even – or maybe especially – in the difficult times.  And it can be well with my soul – even when it isn’t necessary well with my circumstances.

 As an Infant

When E was 2 months old, she had her first appointment at the ophthalmologist.  He used many medical terms that, at that point, meant very little to us.  However, he did say that, if she remained as far-sighted at her 4-month appointment as she was at 2 months, we would probably need to get her glasses at 4 months.

At the time, I remember being incredibly encouraged that he thought she might need glasses – because frankly, I didn’t think she had enough vision to be worth correcting!  Little did I know that the ophthalmologist’s official report said that she had “no fix and follow vision” at that appointment.

When E was about 4 months old, I vividly remember the first time she visually responded to anything.  She was looking in a mirror and I saw her smile back at the baby in the mirror!  I was so excited to know that she could see something!  Shortly thereafter, she was laying on her play mat and she deliberately reached for an object hanging above her – once again confirmation that she could see!

Also at 4 months, we saw the ophthalmologist again, and her farsightedness had improved enough that she did not require glasses at that time.

At 9 months, she had surgery on both eyes to correct severe esotropia, as shown in the picture here.  Before her surgery, her teacher of the visually impaired (TVI) was pretty convinced that E would be a Braille reader only, because she just wasn’t visual enough for print.

After the surgery, it was AMAZING to see the change.  The afternoon of the surgery, once she had completely recovered from the anesthesia, she was almost giddy with excitement!

I wish I’d taken a video of her that afternoon, because she was so thrilled.  I truly believe that she’d never seen that well before and was amazed by what she could see!  Her TVI was amazed also by how well she started attending to things visually, and we began to think that reading some large print might be possible someday.

Toddler Years

For most of E’s toddler years, her vision wavered between 20/300 and 20/400, depending on the day and the circumstances.

E participated in multiple therapies in our home per week, including therapy with our TVI, and with an OT (for speech, sensory and feeding delays).  Outside the home, she also had outpatient feeding therapy at a local hospital.  Our local school also had a one-hour class each week, where she played with a teacher, a physical therapist, an OT, and an SLP.

At the age of 2, she was delayed in almost every area – speech (expressive and receptive language) delay, feeding delays, failure to thrive, fine motor delays, sensory processing issues, etc.  Her gross motor skills were not yet significantly delayed, but she definitely wasn’t meeting those milestones, either.

Despite all of these challenges, she remained a delightful, amazing, sweet little girl, who was obviously cognitively not delayed.  At almost 2, we attended an intensive feeding clinic, resulting in a drastic intake in her caloric intake.  Shortly thereafter, she mostly caught up on almost all of her milestones, with the exception of feeding. 

She received her first pair of glasses at 2 years old, and we also started patching one amblyopic eye at around 2 years old.

At 2 1/2, she was speaking in full sentences, and by the time she was 4, she sounded like she was a grown-up when she talked.

Preschool

Sometime after E turned 4, she seemed to learn to use her vision more efficiently, and she soon was showing distance vision of 20/150, with her near visual acuity even better than that.  Feeding continued to be a struggle, as did sensory processing, but she continued to delight all of her teachers and those that interacted with her.

Shortly after E turned 4, our family moved from Michigan to a suburb of Chicago, IL.  It was incredibly difficult to leave our amazing TVI and her wonderful OT who had worked with E from the time she was 8 months old.  They both gave E such a wonderful start and really prepared her for the start of school.

After we moved, we discovered that the school system near our home had a wonderful program for visually impaired students, which she was able to participate in.  She began attending school all day every day at the age of 4, in a preschool class with other visually impaired children.  However, she was in a general education school with a classroom of her normally sighted peers next door, with whom her class did combined activities regularly.

Lower Elementary

For kindergarten, 1st grade, and the first half of 2nd grade, E continued to attend the program for the visually impaired.  In kindergarten, she stayed in the vision classroom between 50-75% of the time, but was able to join the general ed class for the remainder of the time.  In first grade, it was closer to 50/50, and by 2nd grade, she was in the general ed class for close to 90% of her day.

She also received O&M lessons, specialized reading lessons, training in technology, OT, and social speech lessons at school.  Additionally, her TVI did a wonderful job of helping her learn to eat in a classroom and then a lunchroom environment.

By the time E was in 2nd grade, her vision had leveled out at about 20/100 for distance, and 20/40-20/50 for near vision.  This visual acuity was good enough to be able to read 1st grade level books in standard print – something we never imagined she would be able to do.

She does find that visual fatigue is a significant issue – something that she can see easily at 9am may be too difficult to read at 4pm – but overall, her vision is much better now than we ever could have hoped when she was an infant.

Upper Elementary

Halfway through 2nd grade, we moved again – this time to South Florida.  At her new school, she is in a standard class 100% of the day, with the exception of 90 minutes per week when she works with an itinerant TVI.  Her vision is good enough that, for the most part, she can use mostly “normal” print for her schoolwork, although occasionally we break out a magnifier and enlarged print for testing purposes.

Thanks to all of the help she received in her early years in MI and IL, and thanks to a great school system (and wonderful teachers and students) here in FL, she has absolutely thrived here with her normally sighted peers.  In fact, she has thrived so much that she was placed in a gifted class beginning in third grade!

Current

In January of 2016, Elli began participating in a clinical trial of Ataluren, a new medication that may help prevent some of the visual degeneration that typically occurs for people with Aniridia.  As of this writing, she has had no issues with glaucoma, has very early (visually insignificant) corneal keratopathy, a small cataract that is also visually insignificant for now, and mild ptosis in her right eye.  She also has strabismus in one eye, but it is not significant enough at this time to do surgery.  (All of these terms are defined here.)

Despite any of these visual challenges, most people that watch her play have no idea that she’s visually impaired, because she has learned to compensate so well!

At this point, E is in 5th grade.  Academically, she continues to excel in her classes, and she is part of the safety patrol for 5th grade.  She loves swimming, gymnastics, and everything related to Harry Potter.  Sensory processing is still a hurdle that we navigate regularly, but as she has gotten older, she has gotten better about communicating her needs and learning to cope with those challenges.  Feeding continues to be an ongoing struggle for her (and therefore us), but we just keep plugging along on that front.  She also has some challenges with anxiety and OCD tendencies, which resulted in a diagnosis of high functioning autism this past year.

Although reading is not her favorite thing to do because it is visually tiring, she LOVES books and learning and has a memory that often amazes us.  She is fascinated by all things related to space, natural disasters, and anything related to the medical field.  She hopes to be a doctor someday, and if that desire continues, I have no doubt she’ll be a fantastic doctor.

When E was first diagnosed, I really didn’t know what to expect, nor did I really know what Aniridia meant.  10 years later, I know that she can hike mountains, read books, and overcome all kinds of obstacles…because I’ve watched her do all of those things!  She is an amazing young lady, and I look forward to watching her grow even more in the years to come!