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This one is about: What is Apert Syndrome? (2)


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WHAT IS APERT SYNDROME

by Christine Clark

Apert Syndrome occurs at a ratio of approximately 1:160,000 births. Most cases are new mutations and are not detected until birth. Of course, the chances are 50% if the parent has Apert themselves. Some studies have shown increased paternal age as a factor.

The cranial sutures, fingers and toes are fused before birth. The head has grown rather large, the eyebrown ridges are non-existent and the mid-face is retruded. The first cranial surgeries are usually performed within the first 6 months of life to release the coronal sutures and advance the forehead. If necessary, the lambdoid sutures need to be released, too.

At around the first year the long process of separating the fingers starts. They are separated in stages to allow healing of the skin grafts (taken from the groin area) and usually spaced about 6 months apart. Eventually the thumbs may need to be straightened since they are usually in a "hitch-hiker" position. The fingers still remain stiff because the joints are fused. Depending on the degree of fusion they may not be able to obtain all digits.

The toes are only separated on a few individuals. Some doctors feel it is more cosmetic and the needed skin grafting not worth the ordeal. In my experiences from talking to families is that more problems can be created after separating the toes, i.e., toes bending in wrong directions, little toes curling under feet so they walk on them, harder time finding wide enough shoes to accommodate even wider feet!

Anywhere from toddler to teenage years (depending on the craniofacial teams opinion that you are with), the mid-face is advanced to achieve a more typical appearance, among other things.

There are several other conditions that can occur with Apert such as, breathing problems - possibly needing a trachesotomy, sleep apnea, choanal stenosis or atresia, hydrocephalus, various heart defects, ear infections, strabismus, fusion of other joints such as elbows, shoulders and ankles, pyloric stenosis, polycystic kidneys, tracheoesophageal fistula and severe acne.

The intelligence is a very mis-represented issue with this syndrome. Most literature was written ages ago when these children were being institutionalized before anyone realized that they had normal intelligence, thereby stating that most were mentally retarded. In my conversations and correspondence with families as well as individuals with Apert, I have found their intelligence to be quite fine. Most have developmental delays in the early years (much due to many surgeries) but have the ability to catch up given the right kind of support, education and services (also barring any surgical complications along the way). Speech is difficult for most with the first words often not spoken until the age of 3. Speech therapy is usually required. Occupational therapy is also beneficial for most.

Many adults have gone on to college, live on their own, many owning their own homes, have boy/girl friends, get married, have children (some with and some without Apert). With all of their difficulties growing up and some (mostly minimal) limitations with their hands they do quite well. Most have a great sense of humor and I think that is what has helped them along the way. That and, of course, supportive families and friends. They just basically get caught up in the societal ignorance of thinking that because they look different they must be different.

Our daughter, Michelle, is the most happy-go-lucky little girl. She has blonde hair, blue eyes, a beautiful smile and an infectious laugh. My nickname for her is Belle (Michelle ma Belle). Belle meaning beauty, to know Michelle is to know a beautiful person. She has endured 23 operations in her short seven years but has gone through them with such courage. She is in a full-inclusion program in first grade and doing quite well. She has had at least one boyfriend in each class since starting school at 3 years old (current one is Ryan). We have never kept her isolated form the public but instead have educated. When she was born she required an apnea monitor and oxygen 24 hours a day.  So, we bought a double stroller and put her in one section and the equipment in the other and went on our merry way.

I know many parents who don't take their children out because they can not stand the staring. It is unfortunate that our society judges people so much on outside appearance. It drives me crazy that common criminals walk the streets without a second look but a person born or later afflicted with a craniofacial anomaly is chastised for life! As you all know, they are just like the rest of us. The ignorant ones are really the ones who lose out because they miss the opportunity to meet some really great people!!

A great place to get more information is a web site developed by the parents of a little girl with Apert. They are Don and Cathy Sears and their daughter's nickname is Teeter so the site is called "Teeter's Page". It is full of pictures and stories about Apert.  They also have a listserver for Apert and other craniofacial anomalies that has been quite
active and informative. Check it out for yourself at: http://www.apert.org


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