Monday, March 7, 2011

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.


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. 


TherExtras said...

Deeply ironic. I understand because you explained it so well. I think the appt at Stanford is very good news - reason to hope for good treatment.

I guess the fact that she is really pretty has nothing to do with her medical diagnoses - ?


Terena said...

that is all her. :-)

leah said...

Wow - it is so strange that her vision diagnosis got lost among the medical records! That's a pretty big piece to the puzzle... I really hope the appointment at Stanford gives some insight!

The more complicated the medical issues, the easier it is to "lose" something. Sometimes I think the only reason I have Nolan's blog is to keep a record of all the tests, etc. - our pediatrician is supposedly our "medical home," but they don't have all of his medical records. I really should start my own file, because we may see a geneticist again this summer (he has developed a slight gait disturbance that is probably due to his hypotonia, but it is another unwelcome addition to the medical stuff).

Good luck with the appointments!!

Terena said...

the weird thing is that I DO have a file with all of her current records which I take to each appointment, plus two drawers in my filing cabinet crammed with her past reports. Yet still, somehow, ONH was overlooked.

You're right, it is so hard to keep everything organized, especially with complex diagnoses

CC said...

boo :( :( :( but I can see how a diagnosis (among many) can be not entered one time by a doctor and then forever lost in the paperwork :(