He was born on a Wednesday at 7:52 am. He weighed 7lbs and was 20inches long. He greeted us by way of a very powerful scream. It was August 13th, 2003 when I first laid eyes on such a lovely face. A face that over the years will teach me so many things.I knew right away something was wrong...he looked different. I asked why and I asked for answers but no one could tell me anything. I waited. He spiked a fever less than 24hrs old and wasn't passing fluids. They couldn't tell me why. They still couldn't tell me anything about why he looked the way he did. They did three lumbar punctures. With each puncture they did two attempts for fluid, they never got enough to test. Still to this day we don't know why he had the fever. They put him on IV antibiotics and an NG tube. I demanded to be transferred to Children's in Seattle. I needed answers.
He was transferred out of the NICU on that Sunday via ambulance. After arriving at Children's I was told about his syndrome within 10 minutes by their Craniofacial team.
My son Ethan has Bilateral Hemifacial-Microsomia, also known as Goldenhar Syndrome. Here's an outline of some of his history and how the syndrome affects him....
He has an extremely small jaw, the jaw he was born with will never fully grow on its own.
This is more severe on his right side, it actually was missing half.
He was born with extremely small ear canals, they have to use special scopes from ENT @ Children's just to see in them!He was one of the only few cases with this syndrome to have both fully formed ears.
He did however have large tags or nubs of skin in front of each ear.
He had a bilateral cleft on the left side of his mouth.
His tongue position was abnormal, as well as tongue tied.
His cervical spine is abnormal, C6 and C7 are fused.
With all of these anomalies Ethan was a "failure to thrive" baby. This means that he could not eat and breathe on his own, he stayed in Children's for about four months.
After Ethan's multiple codes(stopped breathing on his own), they placed his tracheotomy(11/03). A month before that his 1st g-tube was placed, later that was changed to a more easy to use model(03/04).
The other main reason for these are to help Ethan be understood. Ethan has severe speech difficulties due to his jaw/tongue alignment. Every surgery he out grows affects his speech progress and every new one means he has to again adapt to the change. Because he has to deal with being misunderstood or not understood at all, it has lead to behavior and anger issues. Ethan has been receiving speech therapy since he was 5months old to help. Also in 2009 Ethan started being followed by psychology at Children's and was recently diagnosed with anxiety. This is seen mostly during unfamiliar social situations.
Ethan will have his trach until he can maintain an open airway. The first quote on it being removed was at age 4, then 7, then it was 9, now we don't know. The main focus now is to get his jaw out far enough with surgeries so that it won't constrict his airway as he grows and his jaw does not. This most likely will not be achieved until he stops growing.
Ethan's most recent surgery (12/07) was one that he's had before, when he was 14 months old. It is called a mandibular distraction, they break his jaw and place an external distraction device on both sides of his jaw. This is held in by eight pins that go through to the jaw, four on each side. We turn a nut on the device twice a day for the first five weeks(to stretch the gaps in the bone), and go to Children's 2 or 3 times a week so that Dr. Hopper can rotate the positions of which way he wants the jaw stretched. The first distraction we turned for five weeks, Ethan went back for a replacement device, called a conversion rod, which holds everything in place while the new bones grow. This whole procedure took about 17 weeks the first time and 20 the second time. The second time he also didn't have the conversion rod and we turned for about 8 weeks. Ethan's next mandibular distraction is scheduled for the summer of 2011.This link will show you the progress of his first mandibular distraction, the slide-show is CT scans of Ethan's jaw:) Scroll down the page until you see the CT scans. This is also a good site to learn about Hemifacial-Microsomia.
http://craniofacial.seattlechildrens.org/conditions_treated/hemi_micro_treat.asp#hemi_micro_treat_slideshow
There are no pre-natal tests for this syndrome. There are three categories as to how the syndrome comes to be; genetic, trauma in utero, or just because....Ethan falls under the "just because" one. More and more research on this syndrome is proving that the "just because" category may be the only category. There are no prenatal tests that can detect this anomaly. Later when pregnant with Eva I had genetic testing which prove very little. Also I had numerous intensive ultrasounds to watch the bone growth of her jaw, but that's all they could do.
So now that you have some background I can share with you our life in the now...
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