Hello out there, wherever you
As I have mentioned in my previous post, I have Apert Syndrome. Today, I am going to give a general breakdown of the disorder and what characteristics it entails. In order to eliminate confusion, medical text simplification will be utilized.
Apert Syndrome is a rare craniofacial disorder that affects 15.5 births in every one million births, or one in every sixty-five thousand births. It is caused by a mutation in the Fibroblast growth receptor-2 gene (FGFR2), allowing premature fusing in the skull, as well as the hands (fingers) and feet (toes). This is also known as syndactyly. However, other joint and bone fusions may be present including elbows, hips, neck, shoulders, and ankles.
Causes are unknown of why the Fibroblast gene mutates, but there has been some association with older fahers. Nonetheless, no parent is to blame.
Aside from the fusions, other symptoms can be present:
- Decrease in the rate of growth leading to short stature, despite normal birth weight and birth length
- Fusion of vertebrae of neck
- Fusion of the two arm bones
- Fusion of the wrist bones
- Varying degrees of developmental delay
- Mild to moderate intellectual disability: IQ seems to depend on factors including the age of skull decompression surgery and the presence of additional brain anomalies
- Absence of corpus callosum, the fibrous tissue that joins the cerebral hemispheres of the brain
- Failure to form the membranes that typically separate cavities of the brain
- Enlarged brain cavity
- Malformations of the parts of the brain that deal with the autonomous nervous system (ANS). ANS controls automatic body functions like breathing or heart rate
- Hearing loss
- Chronic ear infections.
- Heart (cardiac)
- Hole(s) in the ventricular wall
- Overriding aorta develops when aorta is positioned directly over a hole in ventricular wall, instead of over the left ventricle. As a result, the aorta can contain some blood from the right ventricle. This reduces the amount of oxygen transported.
- Narrower opening between the lower part of the stomach and the upper part of the small intestine
- Blockage of esophagus
- Kidneys and Genitourinary
- Anus out of position
- Blockage of the vagina
- Failure of testicles to fall
- Enlarged kidneys due to blockage
Source: Rare Diseases
The mutations occur randomly while the fetus is developing inside the womb and various prenatal tests can be performed to determine if the child will be born with Apert Syndrome. They can include MRI’s, ultrasounds, blood testing, and CT scanning, but sometimes ultrasounds do not always pick up the abnormalities. One of the more common ways to diagnose Apert is through birth.
Those assigned female at birth may experience a mishapened uterus and may experience a difficult pregnancy.
Treatments always require reconstructive surgeries to allow brain growth and alliviate pressure, facial and orbital reconstruction, dental work, finger and toe separation, and correcting any organ disfigurations
In my case (we are all unique) my elbows are fused and I am above average intelligence. I was told numerously that I was “incredibly fortunate” and “lucky”- albeit that I question that myself.
If there is one thing that I have learned (but always knew) is that being born different doesn’t make you different. It’s just a matter of mental resolution on how you want to live your life. The only odd aspect is that I have is that I always have my guard up, especially now in the digital age. I don’t trust as easily, nor I do I want to.
While the world may be callous, cruel, and toxic, there are many beautiful and delightful things out there. Just appreciate and absorb the positive and eliminate the negative. Cut out the toxic people if they make no attempt to change, and forgive and forget.
You’ll be a much happier person then.
Share your thoughts or concerns in the comments.