Optic-Nerve Hypoplasia

I've spent many months studying eye diseases and conditions for my exams, things like Cortical Vision Impairment, Retinopathy of Prematurity, Albinism and Optic Nerve Hypoplasia. And one day while studying all that information, I suddenly realized that Optic Nerve Hypoplasia had fallen off Queen Teen's list of diagnoses. I have no idea how or when that happened.

She was diagnosed with Optic Nerve Hypoplasia when she was 2 years old. Luckily, she didn't appear to have Septo-Optic Dysplasia, which meant she didn't have the syndrome with it's hormone and brain abnormalities, or so we were told.  She "just" had the vision impairment: 20/1500 vision, poor depth perception, nystagmus and intense light sensitivity. Plus, she had physical disabilities such as hypotonia and ataxia and later a hearing impairment. After hundreds of tests and consultations for the last 14 years, including genetic testing, the reason why she has those physical disabilities is still a mystery. No one can  figure out the underlying cause of her shrinking cerebellum. We all finally reached the point where we ran out of tests and theories and decided to just give it time. She's happy, appears stable, and is thriving in school. Let's just stop all the testing and let her be a kid for a while.

And then came the day when I was studying for my Certification exam and read newer information on Optic Nerve Hypoplasia. According to the research, a child can still have the hormone problems and developmental issues, even if not diagnosed with Septo-Optic Dysplasia. And if the child shows no hormone deficiencies as a child, they can develop later in life, especially around adolescence. Holy shit, that's not what we were told 14 years ago!

Then I went on to read some of the common behaviors and symptoms:

• trouble with body temperature regulation
• hormone deficiencies
• growth problems
• sleep problems
• hypoglycemia
• developmental delay
• trouble with eating, including appetite
• impulsivity; easily frustrated; highly distractible
• high fevers when ill; fevers when stressed
• cerebral atrophy

There are even more symptoms which all depend on what type of hormone and brain dysfunction the child has, and Queen Teen has about 80% of them. 

Later that day, I looked at her medical reports from the last few years and saw that there is no mention of Optic Nerve Hypoplasia on any of them.

What?!!!!!!!!!

Even her official diagnosis from CCS doesn't mention Optic Nerve Hypoplasia any more. When the hell did that change?

If the diagnosis of Optic Nerve Hypoplasia is missing, does this mean we've all been looking in the wrong place to uncover the mystery of what has caused Queen Teen's disabilities, as if we started a treasure hunt on the wrong desert island? Or was the mystery uncovered several years ago in all those tests, found to be inconsequential, then buried again and forgotten? But if Queen Teen does have hormone problems now that she's older, especially with her pituitary gland, how much damage could have been done which might have been avoided?

How did I miss this? How could I have let things get so disorganized that I allowed something this big to slip through the cracks? Yeah, I know, I've been busy, but this is my child! I must stay on top of things, especially medical care. And don't tell me it's the doctors job to keep up with her medical care, because we all know how often doctor's miss things (and not always through a fault of their own. They have a lot of patients with a lot of different medical reports to sift through). No, it is my job. 

But I can't think that way. Blame is pointless. I'm doing the best I can. At least I found the problem now and I can do something about it. I have to figure out when and how Optic Nerve Hypoplasia was excluded from her medical diagnosis.  It's not like the optic nerve damage just went away. 

I contacted her geneticist and he seemed surprised that she had Optic Nerve Hypoplasia; they never got a report from the Ophthalmologist (I know I told him!). He also agreed that she should be seen by an endocrinologist and he made a referral to one at Stanford. I should hear back from them in the next week or so. Now I'm going through her medical files again looking for mention of Optic Nerve Hypoplasia and will send copies to her geneticist, neurologist, and another for the endocrinologist. And I need to figure out the last time she was seen at the Low Vision Clinic in Berkeley and possibly make a follow up appointment. Or should I take her to an ophthalmologist at Stanford? 

One step at a time. We'll get to the bottom of this. 

School was the biggest reason I lost track of her medical care, but it may also be the biggest reason I'm able to investigate what kind of care she needs. Now that's ironic. 

Ice Cream, Yogurt and Mashed Potatoes

 

(image from Burnt Lumpia)

While eating her vanilla yogurt, Queen Teen stared at her bowl for a long time, then she said, "If yogurt is white, and ice cream is white, and mashed potatoes is white, how do you know which one it is?"

I laughed. I couldn't help it. It was such a surreal question, so I assumed she was joking. But she looked at me so studiously I suddenly realized she was serious. Ooops.

"Um... well... you can smell them," I said.

She sniffed her yogurt. "Smells like yogurt."

"Exactly. If we had any ice cream you could smell that and see how it's different."

Nodding, she kept looking at me as if waiting for me to go on.

"And if we had any mashed potatoes, you could smell those and see how they're different from yogurt and ice cream."

"But what if you can't smell them?"

"Um... you can taste them. Also, mashed potatoes are usually hot and ice cream is usually cold. And yogurt is cold too, but not as cold as ice cream."

She took another bite of yogurt and then looked at me again, waiting.

"And you store them differently. Ice cream is in the freezer, yogurt is in the fridge and mashed potatoes are cooked on the stove." There. I had explained it from every angle. Now she would understand.

She nodded again and took another bite, her eyes looking dreamy as she gazed off into the distance, pondering my explanation.

How did she not know this? I mean, really... isn't the difference between ice cream, yogurt and mashed potatoes obvious?

Not when you're visually impaired.

This was another reminder of how much of the details in life Queen Teen misses. Everything she knows, she's had to be shown, through explanation, contact, and hands-on experience. There is very little incidental learning when you can't see clearly, and it gets even harder when your hearing is poor as well. You can't sit in your chair and watch Mommy cook dinner, you need to be beside Mommy going through the steps of a meal preparation with her.

Sometimes I think I've got this mommy-gig nailed, then other times I realize how much I've assumed she understands and didn't take the time to show her. What else has she missed?

Stealing from the Blind

Ashlee's Mom, at the blog Pipecleaner Dreams, posted a link to this article by ABC News about how people react when they see a clerk at a store rip off blind customers. Overall very interesting, especially the fact that people react differently when it is a woman who is blind being stolen from rather than a man who is blind.

What Would You Do? Customers Speak Up When Clerk Shortchanges Blind Person.

There's also a video.

Thanks Ashlee's Mom for letting us know about this article.