Saturday, October 29, 2016

How Helen Sees: Meet Helen

I’m so happy to introduce you to our sweet Helen. She is my old soul, my calmest, most content baby and a little piece of heaven. My mom likes to say she plays with the angels.

Photo: Baby Helen laying in her crib and grabbing her toes

Helen has a visual impairment due to a birth defect called coloboma. At five to seven weeks gestation, the fissure at the bottom of the eye stalks closes or “zips up.” When the closure is incomplete, a gap is left that can affect various structures of the eye. It can range from a small interior defect to a more visible coloboma of the iris or even the eyelid. An iris coloboma causes the pupil to look like a keyhole or upside-down tear drop. Some colobomas are merely cosmetic but others can greatly impair vision.

Photo: Helen's eyes with iris colobomas

Helen has colobomas in both eyes that affect the iris, retina and optic nerves. In her right eye, the coloboma includes the entire optic nerve and the macula, so we do not expect much vision in that eye. The eye itself also appears to be smaller, so we will ask at her next ophthalmologist appointment whether it would be considered microphthalmia. Her left macula is intact, but the coloboma has disrupted the optic nerve and her lower retina. She also exhibit frequent nystagmus, where her eyes move back and forth involuntarily.

Photo: A diagram drawn by the ophthalmologist showing the extent of Helen's colobomas. The shaded area under each curve indicates the part of her retinas and optic nerves that is missing. The small "x" represents the macula.

Doctors cannot predict how this will affect her vision, so we will have to wait until she is old enough to tell us what she sees. At this point, we know she has some vision. She can see light and shadow and responds to large movement. Her acuity is estimated somewhere between 20/600 and 20/1200 (less than 20/200 corrected is considered legally blind). The nystagmus can be a factor in how well she sees, and the retinal colobomas may also limit her field of vision. As she gets older, it has been more noticeable that she primarily uses her other senses, like hearing and touch, to explore the world.

Coloboma can be related to other syndromes like CHARGE, but Helen doesn’t seem to have any other characteristics that would suggest that in her case. Her kidney ultrasound and nasal scope were clear. The echocardiogram showed two small holes (ASD and VSD), but they are not expected to cause any problems. She has been on track with meeting her developmental milestones so far, so the colobomas appear to be an isolated trait.

I feel like Helen’s story is too special to keep to ourselves. In the past six months, she has opened our eyes and our hearts to a whole new world. There is so much to learn, so many questions to answer, and I am so grateful for the other parents who have shared their experiences through blogs, Facebook groups and social media. I hope sharing Helen’s journey will help others as well.

You can follow Helen’s story here on the blog or on Instagram at graceofthemoment or #HowHelenSees

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