This evening I finally received a long waited for results to ERG results. It has been a rather impatient week regarding the lack of results from the tests last week.
Daily I've been reaching out to them as I get transferred around on average to 2-4 people who each tell me something different. Only to reach some one who finally says they're not qualified to offer the results of the ERG study and not even a tech [who normally offers us the info] can not offer us the info. To me, this has been a red flag all week. Call it a mothers intuition, if you will, but something is going on with these results as a simple "everything is okay" I'm sure would be answered by a technician as it has been leading up to this point. But patiently just tried to take day by day and medicate upon patience and within time the answer would come sooner or later.
That day was today.
I've had other appointments for myself, other kids appointments calling in as a constant tease leading up to it. Thinking..is this the call?! Nope, another appointment confirmation. Or a rescheduling another kids appointment. So on and so forth.
Today was different.
It was near the evening and finally his Neuro Ophthalmologist contacted me directly with an apology for the delays but she just wanted to get a definitive answer from the Eye Geneticist and technician that handles the ERG results. She is such an amazingly sweet articulate and intuitive woman. Really, the medical industry needs more people like her. As mentioned in previous blogs, if it wasn't for her we wouldn't of already had a clinical diagnosis of Stickler Syndrome perhaps for years with Colin before it was too late and things were worse off than it could of been otherwise. She is such a blessing!
DISCUSS.
She proceeded to discuss the final results from the Retina scan. He appears to have a deficiency in both Cones and Rods within his Retina. What does this mean? These are the cells that make up the Retina. In his case, his 'cell's are stretching because of the lack of normal cells that should be there instead. But not having enough, it's been creating a light sensivity problem during day light where he literally can not see a thing.
Imagine when you set your camera incorrectly with the ISO and all the settings are off to allow as much light to come in like you would for night. Instead of that he has that bright saturated image constantly that doesn't allow him to see during the bright sunlight-at all. This is why he does better in darker environments. It's not just a cone, but also a rod which means no matter which direction you go this standing in the way can create a barrier from him having perfect 20/20 corrected vision.
The good news, however, is that there was no signs of potential tears in the retina or holes that might suggest he was getting close to having his Retina detach. Retina detachment is highly common among Stickler Syndrome children at a very young age.
Here is what is going on..we have 2 means in which he will potentially go completely blind.
1) Retinal detachment
2) IF he has a progressive loss of vision and function of these cells with future ERG's to help determine this, then he can either have Cone Dystrophy OR Achromatopsia.
What are these? You might ask.
Great questions. I've researched them before, completed pathology tests and such on these common vision problems. However, a refresher is great to help answer this question.
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Cone Dystrophy is:
SOURCE
A cone dystrophy is an inherited ocular disorder characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision.
The most common symptoms of cone dystrophy are vision loss (age of onset ranging from the late teens to the sixties), sensitivity to bright lights, and poor color vision. Therefore, patients see better at dusk. Visual acuity usually deteriorates gradually, but it can deteriorate rapidly to 20/200; later, in more severe cases, it drops to counting fingers vision. Color vision testing using color test plates (HRR series) reveals many errors on both red-green and blue-yellow plates.
Watching some video's on this condition to get a better grasp on what this is:
Achromatopsia is:
SOURCE
A condition in which objects appear to be abnormally colored or tinged with color. Also called chromatic vision.
1 an abnormal visual condition that makes colorless objects appear tinged with color.
2 a
form of color blindness characterized by the imperfect perception of
various colors. It may be caused by a deficiency in one or more of the
retinal cones or by defective nerve circuits that convey
color-associated impulses to the cerebral cortex. The most common defect
in color sense is the inability to distinguish red from green, a defect
evident in about 10% of men and 1% of women. 2nd SOURCE [this website is extremely helpful with visual examples of what these eye conditions each look like!]
Achromatopsias are more
of a colour distortion than an outright deficiency. Patients suffering
from chromatopsias simply do not perceive certain colours as well as
others. Chromatopsias take two forms. One of these is distinguished
by the colour that predominate in vision (cyanopsia or xanthopsia);
the other is even more rare that is experienced by some blind people
(phantom chromatopsia).
ACyanopsia
is characterized by the patient's illusory perception of a penetrating
blueness in the scene. It is frequently observed in patients who have
had recent cataract surgery in which the natural lens is replaced
with a clear plastic implant. After living with the yellowing filtering
effects (i.e., xanthopsia) of cataracts for so many years,
the visual cortex apparently compensates by adding blue to the visual
scene. This mechanism may be similar to the those that underlie colour
constancy. The bluish tinge may persist for weeks or months but gradually
it gives way to normal colour vision. The following image is a simulation
of how cyanopsia may affect someone's colour vision.
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In my own MAMA words.
As they say all you can do is just take it one day at a time and manage the things that you can manage and let go of the things you don't have control over. All I can do is research studies on these conditions, ways to help it, and more. Despite the potential that this might be or lead up to becoming I can say that I'm committed for Colin. To offer him the best visual options now before things start to get worse. Explore and 'see' things he's never seen before. Enjoy life to the fullest!
Also, his 4th birthday is on the 18th. This little guys body goes through so much and almost too much but yet he is still the most happiest, cheerful, bubbly, intelligent boy you'll ever meet. He can pronounce dinosaur names better than I can! Or name all of the Thomas the Train characters and what their function in the TV shows is. He also hums cute little tunes for everything. Like opening and closing the fridge he hums a quick little "do do dooooooo...." which really reassures me his niche for music. One of the things I want to get him going on so that when things potentially progress he ca have something to fall back upon and rely on. The ipad has offered plenty of piano lessons with free apps!
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