Okay, I'm Fine

I'm okay now.
Got up, dusted myself off... ready to continue life as if it was never interrupted. And truly, it wasn't. Nothing changed, besides my perception. And I, for one, have finished mourning for that which never was but could have been.

I've accepted whatever will be.


Cohen syndrome is a very rare disorder. It is more common among the Ashkenazi Jewish and Finnish populations. Males and females are affected equally. The symptoms of Cohen syndrome usually start in infancy.

Cohen syndrome is a genetic condition that affects various parts of the body and is characterized by developmental delay, mental retardation, small head size (microcephaly), and weak muscle tone (hypotonia). Additional features include progressive nearsightedness (myopia), degeneration of the light-sensitive tissue at the back of the eye (retinal dystrophy), an unusually large range of joint movement (hypermobility), and distinctive facial features. Characteristic facial features include thick hair and eyebrows, long eyelashes, unusually-shaped eyes (down-slanting and wave-shaped), a bulbous nasal tip, a smooth or shortened area between the nose and the upper lip (philtrum), and prominent upper central teeth. The combination of the last two facial features results in an open-mouth appearance.

The features of Cohen syndrome vary widely among affected people. Additional signs and symptoms may include low levels of white blood cells (neutropenia), overly friendly behavior, and obesity that develops in late childhood or adolescence. When obesity is present, it typically develops around the abdomen, with the arms and legs remaining slender. Affected people may also have narrow hands and feet as well as slender fingers.

And some more info... (This article was last updated five years ago and states that there are fewer than 100 cases diagnosed worldwide and that there is no genetic test for Cohen Syndrome. In this short time, so much has changed. Now there are close to 1,000 diagnosed cases and there IS a test for it! How grateful I feel to live in this age.)

Upon second glance, it's not all that bad. Obesity? It scared me senseless at first, until I saw their definition of obesity- I'd be considered obese in their terms!
Degenerative nearsightedness? Whatever. I've come to accept it. With today's (and the future's!) options, even people who are almost blind can see.
20% chance she will never talk? Meanwhile I'm focusing on the 80% chance that she will.
Overly friendly personality? Hmmm... I think I can handle that. I mean, I've handled it so far!

So I'm fine.
Today we are going to the ophthalmologist (in Boro Park, mercifully!!) to see what's going on in Adel's eyes. From what I understand, the ophthalmologist would be able to see something in the eyes if Cohen Syndrome was present. That would help with finalizing the diagnosis.

If you have a minute, I'd really appreciate if you can say one kappitel Tehillim for accurate results of the eye exam. (Of course, daven for positive as well, but only as long as that's accurate. )

In other news, Adel's evaluation report came.




I'm not surprised by the results, but I still winced while reading each score.
The best part of the whole report was when the occupational therapist started her report with, "Adel is a sweet 10 month old baby girl..."
That totally made my day.