Finally an answer.....DUANE SYNDROME

Around 9 months of age we noticed that Samuel's left eye tended to drift toward his nose. The pediatrician thought it might be lazy eye, so in October of 2009 we took him to an eye specialist who told us it was "just the extra tissue next to the eye, that is very common with babies, that gives the allusion of a lazy eye and as his head grows that will disappear."

Well,  a year later and it still seemed the same so I took him back to the doctor and had the above picture with me (...because Sam doesn't do it all the time and I wanted the doctor to see what it looks like when it happens.).

After 2 HOURS, holding his head (did not want to hold still), eye dilation, lights in his eyes, holding his arms down, and lots of crying (...the eye doctor is a man and Sam DOES NOT like men....), we now have a diagnosis and the comment of..."I don't know why I didn't catch this a year ago."

DUANE SYNDROME (DS) is a rare (1-5% of the population), congenital disorder of eye movement. It is a mis-wiring of the eye muscles, causing some eye muscles to contract when they shouldn't and other eye muscles not to contract when they should.

Type 1 is where the eye moves outward toward the ear, type 2 is where the eye moves inward toward the nose and type 3 is where one eye goes out and one eye goes in.

This probably occurs around the sixth week of pregnancy and is due to poor development of tiny parts of the brainstem that control the eye muscles. Many patients with DS develop a habit of turning their face to maintain proper vision and thus compensate for improper turning of the eyes.

The standard management of Duane Syndrome may involve surgery. The goal of surgery is the elimination or improvement of an unacceptable head turn and the elimination or reduction of significant misalignment of the eyes.

The good news:

* we finally know what it is
* it does not cause poor eyesight or blindness
* it is not degenerative
* many go without the surgery and we don't have to do it right away
* the surgery only takes a half hour and home the same day

Not so good news:

* we need to get an examination of the neck and chest, spine, roof of mouth, vertebrae, hands, and a hearing test to rule out disorders associated with DS
* if he stops compensating with the head tilt the brain may tell the eye to stay inward by the nose and then the eyesight would be affected
* DS can not be "cured," but cosmetically he will look better
* he may have to have both eyes operated on to align the eyes properly

I spent two hours after we got home (while Sam napped...he was exhausted) on the Internet researching this myself. This brought up two questions.....

1. I found this tidbit, "Surgery should not be performed unless there is a cosmetic problem when looking straight ahead. A simpler solution than surgery is special glasses with prism to eliminate the head turn. Some of these patients have a secondary convergence problem, which is effectively treated by Vision Therapy." So my question is....do we really need surgery?

2. I also read this, "In 70% of patients, DS is the only disorder the individual has. However, other conditions and syndromes have been associated with DS. These include malformation of the skeleton, ears, eyes, kidneys, and nervous system, as well as the following: Okihiro syndrome (an association of DS with forearm malformation and hearing loss), Wildervanck syndrome (fusion of neck vertebrae and hearing loss), Holt-Oram syndrome (abnormalities of the upper limbs and heart), morning-glory syndrome (abnormalities of the optic disc or blind spot), and Goldenhar syndrome (malformation of the jaw, cheek, and ear, usually on 1 side of the face)." So my question is....do I need to get all these things checked out?

This kind of all makes sense to me and fits in with his other diagnosis of "poor muscle tone" throughout his body. I'd like to get his spine looked at and we are scheduling another hearing check. We have another appointment with the eye specialist in July, just to check in and see how things are progressing. Part of me wants to get another opinion too, but there is only this one pediatric eye doctor in Albuquerque. Between now and then Richard and I need to decide how we want to proceed with all this. For now we are going to monitor how often (marking it on the calendar) we see it occur and I'm going to find other pediatric opthamologists in NM and CO and get a second opinion.