Jazmee27 
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DO YOU REALLY WANT TO ANALYZE?
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Is that what I have? Hard to tell, as information from my prior search about LCA (Leber’s Congenital Amaurosis) led me to believe otherwise, naming a key symptom I know I had when I was one and a half. And, of course, there’s that “hereditary” bit. No one in the family is blind, so… heredity’s out—at least I think it is.
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Reply #541. Jun 04 12, 6:48 PM
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Jazmee27
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DO I CARE WHAT THE DIAGNOSIS IS?
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So let’s see one of the pages I viewed before, the site for the Foundation for Retinal Research, tfrr.org:
“Leber’s Congenital Amaurosis (LCA) is a rare, hereditary disorder that leads to retinal dysfunction and visual impairment at an early age – often from birth.
Of all the retinal degenerations, LCA has the earliest age of onset and can be the most severe.
LCA bears the name of Dr. Theodore Leber who first described the condition. Congenital means "a condition existing since birth, usually hereditary," and
Amaurosis refers to any condition of blindness or marked loss of vision, especially loss of vision in which there is little or no change in the appearance
of the eye itself… LCA is sometimes confused with another condition termed Leber’s Hereditary Optic Neuropathy (LHON) that also leads to visual impairment. However, LCA is
a separate and distinct disease.”
“Besides vision loss, other signs of LCA are nystagmus (roving eye), sluggish or nonexistent
pupillary response and, in some cases, eye rubbing (oculo-digital reflex). In a smaller number of cases, there can be lens opacity (cataract), cornea abnormality
(keratoconus), aversion to light (photophobia), hearing impairment and possibly developmental delays. Retinal blood vessels can become thin and narrow
and there can be pigmentary changes that an Ophthalmologist can see within the eye.”
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Reply #542. Jun 04 12, 6:49 PM
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Jazmee27
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MY THINKING IS CHANGING
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“LCA can best be thought of as a grouping of hereditary diseases within a larger
grouping of diseases called Retinitis Pigmentosa (RP). RP is a family of hereditary diseases of different causes whose common end point is retinal degeneration
and loss of vision.”
And I stop reading, having seen enough. Does it really matter? My vision’s stable, at least for now, and there’s nothing in the way of glasses or anything that will improve it.
Is my balance problem related? Possibly. Doctors can’t say; I’ve had test after test after test, only to be told they can’t tell me anything: “the results do not match the symptoms”. What symptoms? Peripheral neuropathy for one.
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Reply #543. Jun 04 12, 6:50 PM
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Jazmee27
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My mind travels back to that day in February—or was it March—when I decided to open a particularly stubborn can of fruit. The tin bent, and I wound up cutting my finger in two or three places! And I remember being reluctant to call the doctor’s office to check about my last Tetanus shot. “You need a new onne,” I was told. And such a hassle to arrange an appointment!
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Reply #544. Jun 04 12, 6:51 PM
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Jazmee27
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I vividly remember asking Mom when she could take me so I wouldn’t have to ask my Grandma—much as I love her, there are certain things I’d rather not have her help with since, once she’s here, she won’t stop complaining. For example, either the doctor’s late, or we’re waiting too long in the waiting room, or… No—not if I can help it! As a last resort, yes, but not before.
I wish I could say that was the only can to give me trouble, but it’s not. There was the one I thought was ravioli but turned out to be beef-a-roni; Mom wound up opening it because the pull tab popped off, just like the fruit can I cut my finger on, and the can opener refused to cooperate, also like with that can. And then, more recently, another can of beef-a-roni decided, “I’m going to be difficult, but not as difficult as that other can”: the lid came off, but the sauce splattered everywhere, forcing me to wash my hair and the braces I wore on my arms—technically, they already needed washing, but the sauce was a nice touch.
So now, each time I reach for a can, I tell it to behave and not “be a stupid tin can”.
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Reply #545. Jun 04 12, 6:51 PM
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Jazmee27
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I find it interesting that the weather forecast changes from one day to the next, yet they still try to predict the weather days in advance. Try tomorrow: yesterday, it was said it was going to be 93; now today, the temperature for tomorrow is to be 96, which “beats the record of 98 set in…” Wednesday’s temperature was going to be 94; it’s 95 now; and Thursday… well, don’t know if I’d checked on that one before today, but it’s to reach the record high of 98!
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Reply #546. Jun 04 12, 6:52 PM
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Jazmee27
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I had just entered my room and was almost to th e exercise bike when my right sneaker got caught under the equipment and came off. So, I sat on the bed and slipped it back on. Luckily for me, they’re the sneakers without laces. I find laces are a pain, but I put on the pair that has them to go o ut in the community: otherwise, I hear, “Those sneakers you’re wearing don’t provide enough support…” or some such.
When I’d finally gotten the foot in without pinching it, I got on the bike. My left foot was hurting, so I wasn’t moving as fast as yesterday. Plus, the faster I go the more I risk one or both feet turning and rubbing against the side, or twisting—and that really irritates the left one, so I need to take it slow so I don’t overdo it or move the wrong way. And, as I think maybe I rode a little much yesterday… my total then was 27 minutes, up from 17 the day before; today, only 20. I figured I’d better stop when the pain became constant, rather than being an occasional twinge. I should add that, now that I’m sitting still and not riding anymore, it feels better.
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Reply #547. Jun 04 12, 6:53 PM
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Jazmee27
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While I rode, I thought about how I’d like to be a fiction writer someday. And I thought about all the books I’ve read lately, or listened to. Then I thought about my failed attempts at writing fiction, of my many drafts. And just last night, I remember thinking about “Village Streets” and how I must be upp to five drafts or so, and how I like aspects of all of them—except perhaps the rough copy I wrote in 2008, which I have difficulty reading.
At some point, I thought about my poetry and autobiographical writing, of the “reflective pieces,” and I had a brainstorm: I could change around a few names, but keep most details the same, making modifications where necessary. And I remembered writing a short story several years ago when I still stayed at the babysitter’s. What was it called, “Promises” or something? Oh, yeah: “The Promise”. I remember asking Mom if she still had it; I think she said yes, but I forget… Maybe it’s time to ask her again.
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Reply #548. Jun 04 12, 6:54 PM
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Jazmee27
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At some point I also thought of Sunday, when my Grandmother started telling Mom a story—it must not have been important, as I don’t remember the topic—and Mom replied that Grandma had already told her. “No,” Grandma insisted, “I didn’t tell you this,” but Mom interrupted to say yes, she had. Oh, how awkward that is! It’s like… I better not go there!
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Reply #549. Jun 04 12, 6:54 PM
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satguru
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I had a library of medical books (not sure where half have gone since I last moved house) and firstly hereditary diseases are either dominant in which case you'll see a trail of earlier generations, like diabetes, or recessive and possibly sex linked, meaning no one without two genes (and possibly female in your case) will exhibit symptoms without a pair of genes, which means needing both parents to have one plus both appear in your gamete at conception, meaning it is very rare (hence the lack of knowledge) and not present outside the known family.
With the few books I have left one may have more details, they may be old but were thorough, but looks like they may be on a good track but need to be able to correspond the majority of symptoms and not overlap with anything similar before you can consider the possibility. I expect the internet can more than fill in the gaps in my library though and see what I can track down.
Reply #550. Jun 04 12, 6:59 PM
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Jazmee27
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The really frustrating thing is, no one inn the family (that we know of) besides me has any such affliction.
There is a family history (or, at least, something like it) of diabetes, and definetly of heart disease and stroke.
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Reply #551. Jun 05 12, 1:49 PM
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Jazmee27
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It's annoying to have all sorts of tests done, and at the end of it be told:
- "...test results inconclusive."
- "...nothing we can do..."
Coincidentally, that's why I refused the spinal tap (even assuming it could tell me something, like give me a name for the neurological problems I have, what's the point if the knowledge cant't improve my life somehow? First, a diagnosis can't be made without determining the cause. For the sake of argument let's say that's done. Now we're left to contend with the nerve damage that's already been done. There's no way to reverse that, so what does a name tell me? NOTHING! And there's not even a guarantee the tests would unearth anything. [No, I'm not being pessimistic, just realistic.])
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Reply #552. Jun 05 12, 1:58 PM
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Jazmee27
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I need to remember to ask Mom on Friday "how was your day, Minnie Mouse"?
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Reply #553. Jun 05 12, 7:09 PM
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satguru
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You're right on most of that, although recessive traits will not show up in previous generations as the gene could have been carried for centuries before joining with another, where diabetes and baldness for that matter show up in the majority of holders. But what I read about your possible amaurosis is stem cells have now restored vision in a number of cases, so at last there seems to be a possible treatment for some of the symptoms of genetic disorders, and in this case probably the most important of them. They've also got insulin production going again with stem cells although not sure why it's taking so long to be taken up elsewhere. The potential seems pretty good though.
Reply #554. Jun 05 12, 7:27 PM
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Jazmee27
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All things scientific seem to need loads of time to take
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Reply #555. Jun 05 12, 8:47 PM
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Jazmee27
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I was just in my email, and it’s been inundated with Bath and Body Works coupons! “I swear one of these days I’ll go in and block them,” I th0ought as I pushed the check mark next to each one so I could delete it.
The other thing I need to do is check more often. Maybe then, I could:
- Send messages back and forth to family or friends, like I used to;
- Read the many forwards already in my inbox; and
- If I signed up to receive an email newsletter, I could actually read it before the news gets old.
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Reply #557. Jun 06 12, 7:45 AM
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Jazmee27
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It’s not ironic that I get inspired by each new story that I read—or reread. Sometimes, the idea’s clear cut and obvious; other times it’s more vague, and it may take several different books to jolt the entire idea.
But the idea I just had, the one which wraps up the taped series I’m doing now and leads into the next, has its roots in “Found,” the first book of “The Missing” by Margaret Peterson Haddix. And though the series of fifteen tapes I’m finishing up is full of ambiguity, filled with visions and such, and the last tape—apart from part of the first side—is nothing but music, the idea still stands.
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Reply #558. Jun 06 12, 7:47 AM
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Jazmee27
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- The events of the drama occur in the twenty-seventh century, and like I said there are a number of visions and prophecies all throughout. One of the characters suggests that, in order to thwart The Dark, time should be rewound or, put another way,”the clock must be turned back”. So, at the end of tape fifteen, everyone’s engaged in a “final celebration”—nobody’s saying farewell, since they’ll soon be reunited again in a different time period.
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Reply #559. Jun 06 12, 7:48 AM
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Jazmee27
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- At one point,Maria hands Brendyn and Elspeth two identical rings, similar to the onesworn by Preston and Isabelle, Anastasia and Alonso,Ontario and Harmony, and Devlyn and herself. Maria explains that, if Brendyn isn’t wearing the “Ring of Protection” at the time the clock is rewound, they won’t be “an item” when they meet up again. And Devlyn adds, cryptically, “you may not even meet,” which seems to suggest that one or the other will be lost in the Universe, or perhaps maybe even lost in time.
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Reply #560. Jun 06 12, 7:49 AM
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