A Parent's Insight

Our journey discovering what Joel's visual impairment would mean to us as a family began at his six-month wellness check in 2004.  As his pediatrician finished conducting the routine exam and we were exiting the exam room, Dr. Crow suddenly stopped us and said she felt it was necessary to check something she had noticed with Joel’s eyes.  There was an unusual "flick."  The tone of our exam changed at that moment as she explained she felt it was necessary to refer us immediately to an ophthalmologist.

The ophthalmologist we were referred to examined Joel’s eyes and explained he had nystagmus[1].  She then immediately referred us for a brain MRI.  That referral was so unexpected; my husband and I were both shocked, numb and scared as we left that appointment.

I remember they recommended we not be in the room as they anesthetized Joel for the MRI since,from their experience, it was always hard for parents to witness.  It was a very long, difficult day as we now knew what they were looking for and were aware what the rare but possible outcome could be.  Our pediatrician requested the results be sent to her immediately.  She called the next morning with the best news we could hope for.  The brain MRI was normal.

Finding our way to a diagnosis of Blue Cone Monochromacy[2] was a long, multi-year, multi-doctor, and multi-trip process.  Joel saw two different ophthalmologists in the first office.  With the MRI results in, nystagmus was the only diagnosis we were given, with the possibility of surgery in the future.

As time progressed, I noticed Joel would hold all of his baby books, which, of course, have large pictures and print, about two inches from his nose.  That’s the moment I knew “he needs glasses", and called the ophthalmologist.

A toddler does not want to wear glasses, especially if they do not help them see things better.  Joel would wear his glasses for a short time, but only at preschool.  Since then, we have learned that the glasses were most likely  not helpful, specifically, the strong prescription he was given from the first ophthalmologist’s office.  As the prescription was reduced by other ophthalmologists and a tint increased, Joel would choose to wear his glasses for longer periods of time.  

 Then Joel started preschool.  His teacher made a point to catch me as I was picking Joel up one day and told me that I really needed to teach him his colors.  Up to that time, he had never really been challenged to pick or identify colors.  Yellow had always been his favorite color, and he would automatically choose yellow for everything when coloring, which was not one of his favorite things to do.  Coloring within the lines is certainly frustrating when the lines move a little each time you look at them.  Joel seemed to be able to identify blue — most of the time.  Then, we realized red and black were indistinguishable from each other, as were orange and green, and pink and blue.  He was colorblind, but to a greater extent than anything I had read about.

At this point in time, we were still being given a diagnosis of nystagmus.  I had been researching what that meant for Joel during this time and had joined the nystagmus list serve, receiving multiple emails a day from those with the experience and knowledge that I needed.  I saw Dr. Richard Hertle’s name mentioned as “the" expert to seek out with a nystagmus diagnosis.  We felt these other symptoms were significant, but were not being addressed at all and something was missing in what we were being told.  We made the decision we were going to go to the expert to find out what it was.  

A month before Joel turned five, we were on our way to Pittsburgh to our appointment with Dr. Hertle (he is now practicing in Akron, Ohio). 

As Dr. Hertle examined Joel, he asked pointed questions, especially regarding color identification and contrast, something no other ophthalmologist had done to that point.  At the end of the exam, the tentative diagnosis was “achromatopsia,” a genetic eye disease that was not degenerative, but had no cure at this time.

As we left Pittsburgh, it was really a sense of relief that Joel’s visual impairment was not degenerative.  However, that was a tentative diagnosis, and the description Dr. Hertle gave us of achromatopsia was of only black and white color vision.  We felt that Joel did have some very limited color vision. 

Of course, as the years had passed, Google became an important tool for my research.  When we arrived home from the visit with Dr. Hertle in Pennsylvania, I joined the achromatopsia list serve and learned there was a rarer form of achromatopsia called Blue Cone Monochromacy.  Immediately after reading the symptoms, I felt that BCM was the name for Joel’s visual impairment.

I read that an electroretinogram [3] was the only test that could definitively diagnose a loss of cones, and there was a specific test for loss of color vision.  However, an ERG for a young child would involve anesthesia, which we did not want to have Joel undergo.  I searched for an alternative and found Dr. Haegerstrom-Portnoy was the expert in Blue Cone Monochromacy.  Luckily, she was located at University of California, Berkeley, in California.  

Dr. Haegerstrom-Portnoy clinically diagnosed Joel with Blue Cone Monochromacy and prescribed magenta-tinted lenses for prescription glasses in February, 2012, when he was eight years old.  BCM presents as nystagmus, poor visual acuity, colorblindness and photosensitivity.  It is not a degenerative condition, although as Joel has gotten into his teens (he’s 15 now), he is more aware of how the photosensitivity affects him and is focusing on how to better manage that symptom.  Also, the nystagmus diagnosis we were so very concerned we may have to consider surgery at some point for, as explained to us by one of the first ophthalmologists, has almost disappeared.  I’ve read this is usual with BCM.  We feel so fortunate that we did not even consider the surgery that was being discussed.

Getting to a diagnosis of Blue Cone Monochromacy took seven and a half years, five ophthalmologists, two retinal experts, one unsuccessful ERG, multiple other tests, a trip to Pittsburgh, a trip to Berkeley, and I do not feel it would be an exaggeration saying hundreds of hours of reading, research, and phone calls.

I would encourage other parents to listen to their intuition and to also sign up to read the list serve for the online community for your child’s condition or, as in our case, suspected condition.   I never posted on the list serves simply because I didn’t feel informed enough to add to the discussion, and I also felt I was reading a lot of useful information every day without asking and trying to keep up with applying that information.  However, just knowing there was a caring, supportive community, however small, was a huge stress reliever.  I felt supported and as informed as I could be.  Not one ophthalmologist or “expert" told us about Dr. Haegerstrom-Portnoy, the one doctor who finally gave us a diagnosis.  I happened to see her name as “the" recommended expert on the achromatopsia list serve again and again.  I just knew, at that point, that we had to take Joel to see her.

[3] Electroretinogram is a test that measures the electrical activity taking place in retina cells

Our lengthy journey to a diagnosis seems to be typical for BCM and achromatopsia.  Researching and continuing to demand answers that sometimes weren’t available was exhausting.  It was vital to remind ourselves at times that we needed to take a break from focusing solely on finding answers and to enjoy raising a happy, healthy, funny, smart boy.

[1] Nystagmus is a condition in which the eyes quick, uncontrolled movements.

[2] Blue Cone Monochromacy is a genetic vision disorder in which color vision is severely impaired.

[3] Electroretinogram is a test that measures the electrical activity taking place in retina cells.