Steve Christner: LIVING WITH GOLDENHAR SYNDROME support group goes online!!!

Thursday, November 22, 2007

LIVING WITH GOLDENHAR SYNDROME support group goes online!!!

WELCOME!!!

Today is the first day of the LIVING WITH GOLDENHAR SYNDROME support group going online. It may take some time to take off as I will need to find as many families and individuals affected by Goldenhar Syndrome. I appreciate anyone subscribing to this group. You can subscribe by scrolling down this page to you see a subscribe button. Enter your email address and hit the button subscribe. You also may receive an invitation from me where you can just follow the instructions.

You can post any questions, information, or responses to by sending an email to goldenhar-syndrome@googlegroups.com

4 comments:

Mandy said...: Hi Steve,

thank you for starting this blog. Am I the first to respond? From what I can tell, I am. They say its rare, but boy that's rare! :)
My granddaughter has been diagnosed with Goldenhar. She must have an extremely mild case because the only outward signs are the colobloma on one eye around the iris, a cleft eyelid that has been surgically closed, and ear tags. She was xrayed for spinal deformities at birth and they were negative. The pediatrician had never seen a case before.
Is there anything we should know about with regard to looking into more treatment? Will she grow as she is now or do the bones grow abnormally as she ages? We've been blessed with good hearing and sight for her from what we can tell. She was born July 15, 2010, so she's almost 10 months old.
Thanks so much,

Mandy in Austin, TX; May 10, 2011 at 5:16 PM
djjohnson58@msn.com said...: I know of this syndrome and finally.......need some help addressing the issue.; January 17, 2012 at 3:45 PM
Kaylene said...: Hi Steve my name is Kaylene I am 49 year old female from Australia with goldenhar syndrom so I have just learnt that it not only has a name but there are other people the same as me lol
I was born with micrita to the right ear and skin tags on the left side of my face (which have been removed when I was young) my right eye has dermoids under the lower lid and in the corner of the eye which I have had a few operations on another op coming up in march to try and get it looking a bit normal if there is such a thing lol .I am lucky I have plenty of hair to hide behind
I was also born with a valve leaking to the heart which was repaired when I was six and I have never had any problems with it ! I also learnt that I had no uterus one kidney and one overie I lead a pretty normal life with my husband who is a wonderful man and very supportive .
I am so glad I have found this support group it is nice to know there are other people out there just like me.
Thanks Kaylene; February 1, 2012 at 11:45 PM
Steve Christner said...: I must apologize for starting this group and then never following up on it. I could go through the long, boring, "poor me" stories but we will skip all that and I just hope everyone who has found this group and posted accept my apology for not getting back to you.I plan on making some changes that will allow due to new technology; Facebook, twitter, Google+, Skype, Logitech VID, Smart Phones etc. You can still post to thew group and I will return any questions or comments. Looking forward to finally getting back to some goals I had 5 years ago. - Steve C.; March 9, 2012 at 11:46 AM

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WHAT IS GOLDENHAR SYNDROME?

A term that is often used synonymously with "Oculo-Auriculo-Vertebral (OAV) Spectrum," is a rare disorder that is apparent at birth (congenital). The disorder is characterized by a wide spectrum of symptoms and physical features that may vary greatly in range and severity from case to case. However, such abnormalities tend to involve the cheekbones, jaw, mouth, ears, eyes, and/or bones of the spinal column (vertebrae).
Synonyms of Goldenhar Syndrome (Oculo Auriculo Vertebral Spectrum)
FAV - Facio-Auriculo-Vertebral Spectrum
First and Second Branchial Arch Syndrome
Goldenhar-Gorlin Syndrome
OAV Spectrum
Oculo-Auriculo-Vertebral Dysplasia
Disorder Subdivisions:
Hemifacial Microsomia (HFM)

A variety of terms has been used to describe this extremely variable disorder. According to the medical literature, when malformations primarily involve the jaw, mouth, and ears and, in most cases, affect one side of the body (unilateral), the disorder is often referred to as "Hemifacial Microsomia." If abnormalities of the vertebrae and the eyes are also present, the disorder is often called "Goldenhar Syndrome."

In most cases, Goldenhar Syndrome (OAV Spectrum) appears to occur randomly, with no apparent cause (sporadic). However, in some cases, positive family histories have been present that have suggested autosomal dominant or recessive inheritance. In addition, some researchers suggest that the disorder may be caused by the interaction of many genes, possibly in combination with environmental factors (multifactorial inheritance).

MY MEDICAL CONDITIONS

1. Severe Chronic Pain: Suffering from severe chronic pain to neck, ears, jaw, eyes, and head due to vertebral malformations ( refer to Vertebral Malformations down below).
2. Sarcoidosis: involves inflammation that produces tiny lumps of cells in various organs in your body. The lumps are called granulomas (gran"u-lo'mahs) because they look like grains of sugar or sand. They are very small and can be seen only with a microscope
3. Craniofacial abnormalities: bones of the upper and lower jaws (maxillary and mandibular underdeveloped. Absence (anotia) and/or malformation (microtia) of the outer ears (auricles or pinnae). Eye abnormalities (cysts on the eyeballs, epibulbar dermoids and lipodermoids.
4. Difficult Intubation – Class IV Airway
5. Klippel-Feil Syndrome: It is a rare disorder characterized by the congenital fusion of any 2 of the 7 cervical (neck) vertebrae.
6. Prominent Cervical Kyphosis, Cervical Scoliosis , · Cervical Lordosis: There is two much curve in the spinal column in the neck or cervical area.
· Kyphoscoliosis: Backward and lateral curvature of the cervical spine
· Rotoscoliosis: Abnormal rotation as well as a lateral curvature of the spine. In my case convex curve to the left in the upper cervical spine and convex to the right in the lower cervical spine.

MY 13 SURGERIES

MY SURGERIES (13)
3/6/2006 – Posterior occipital cervical to C5 fusion - Presbyterian HUP, Dr. Kingsley Chin
1/29/2006 – Lung Biopsy (Bronchoscopy) - HUP, Dr. Larry Keiser
6/8/1993 – Excise excessive skin and subcutaneous tissue Left ear & Graft, rib cartilage to left ear - CHOP, Dr. Linton Whitaker
9/28/1992 – Incision & Drainage, Abscess (complicated-Left mandible near bone graft) - CHOP, Dr. Linton Whitaker
8/17/1992 – Reconstruct mandibular ramus with bone graft; Lefort I osteotomy; reconstruct midface; intrusion, single piece; Genioplasty; sliding osteotomy single piece; Reposition left ear; excise skin graft & Otoplasy (set right ear back) - CHOP, Dr. Linton Whitaker
x/x/1991 – Removal of left eye dermoid cyst - Frankford Hospital (Torresdale), xEye Surgeon
8/31/1983 – Removal of wisdom teeth - Presbyterian, HUP Medical Center, Dr. James A Tatoin, Jr.
6/x/1973 – Conchal Stage Otoplasty (left ear) - CHOP, Dr. Linton Whitaker
3/x/1973 – 3rd Stage Otoplasty (left ear) - CHOP, Dr. Linton Whitaker
2/x/1972 – Partial elevation of (left ear) - CHOP, Dr. Linton Whitaker
8/23/1971 - 2nd Stage Otoplasty with Costal Cartilage Implant (left ear) - CHOP, Dr. Linton Whitaker
4/16/1970 - Excision Scar and rotate ear parts (left ear) - CHOP, Dr. Gerald Aker
10/14/1969 - 1st Stage Otoplasty - CHOP, Dr. Gerald Aker