Monday, June 25, 2012

Aperts Syndrome

Aperts Syndrome is a multi-faceting condition caused by a mutation of a chromosome. Most mutations occur randomly, but then it becomes a dominant trait. So then the person affected has a 50/50 chance of passing it on to their child.  Aperts Syndrome occurs in 1 out of approximately 160,000 live births.

Aperts Syndrome is pretty obvious at birth as the child is born with webbed fingers and toes as well as a retruded midface. The plates of the skull tend to fuse together prematurely, putting pressure on the brain. Joints can be stiff or fused. Typically the middle knuckle is missing in all of their fingers. There can also be heart and kidney problems. Often there are vision and hearing problems as well. Many suffer from sleep apnea due to the abnormal craniofacial features and smaller airways. A high arched or cleft palate and overcrowded teeth are very common. Intellectual abilities vary.

Aperts is pretty apparent at birth, however, since it is a pretty rare condition not all pediatricians are able to diagnose it immediately.

Treatment for the various facets of Aperts Syndrome includes typically over 20 surgeries by the age of 18. Speech, occupational, and physical therapy also significantly help the child to function.

Craniofacial surgeries are done to separate the plates of the skull which fuse together prematurely (Craniosynostosis), draw the bones of the midface forward and reshape the skull. Oftentimes the child will wear a helmet to keep the top of the head from growing abnormally wide. Several surgeries are done to separate the webbed fingers as well as straighten out thumbs and big toes. Often a child will also undergo surgery to realign the eye muscles. Orthodontic work is also necessary. Many children also get a trach due to breathing issues.


Several groups on Facebook:!/groups/apertsyndromeawareness/!/groups/apertusa/

Personal Story

My son Matthew is a trooper! He is 6 years old and about to undergo his 7th surgery. This year alone he will have three surgeries! And yet the child keeps on smiling and laughing. He has an insane amount of curiosity and energy as well as mad problem solving skilz!

Matthew has had surgeries to correct his craniofacial issues, webbed fingers, bent big toes, and eye muscles. He also has progressive hearing loss due to the bones in his ears which are calcifying. Matthew's shoulders are out of socket, which decreases his range of motion. Sleep apnea has also been an issue for him, as well as a contributor to his ADHD.

Matthew's most recent surgery was in January of 2012 where metal distractors were placed in his head (and turned every day for 30 days or so) to push the bones in his midface forward. He had a trach while he was in the hospital, but was able to get it removed before being discharged. As you can probably imagine, the craniofacial surgeries carry the most risks.  This time around we experiences some of those... Matthew sat up the day after surgery and his trach slipped out and his airway started to close up. He also contracted meningitis while in the hospital.  Then a couple weeks ago he had to be rushed to the ER via ambulance because of airway problems.

It has been a scary road at times, but overall I am grateful for the blessing of raising my little miracle boy. He reminds me what is most important in life (the people!) and not to sweat the small stuff. Despite all the trials, we are so blessed!

If you want to read more of our story, check out my blog about my journey as a single mom of a special needs child:

Contributed by MOM Selena LaBerge- to read more about Mathew check out his BLOG

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