My son has one of 200 forms of dwarfism known as Thanatophoric Dysplasia (TD) dwarfism. Considered to be a lethal diagnosis we trusted God and our miracle was born in August 2005. The six months my son lived in the hospital is the subject of my work in progress memoir called, A Miracle In My Living Room: Overcoming a Not Compatible With Life Diagnosis.
Dwarfism Awareness Month
I have learned over the years that all children are different. And though my son has Thanatophoric Dysplasia, he does not have every characteristic of the diagnosis. Here are a few variations within the diagnosis of TD.
- Respiratory Insufficiency – The condition in which the lungs cannot take in sufficient oxygen or expel sufficient carbon dioxide to meet the needs of the cells of the body.* When my son was born, he needed a ventilator to breathe to cope with this insufficiency. *www.medicinenet.com/script/main/mobileart.asp?articlekey=31854
- Lung Hypoplasia– Incomplete development of the lung. My son was born when I was 35 weeks pregnant. I was given steroids to help his lungs develop but he still needed a ventilator.
- Compression of the Brain Stem– A small foramen magnum (opening near the base of the skull) can compress the brain stem. Many children with dwarfism have this challenge. Surgery is often performed to relieve the compression. Though my son has not had this surgery, I know other children who have completed this surgery.
- Hydrocephalus– Hydrocephalus is a buildup of fluid in the cavities (ventricles) deep within the brain. The excess fluid increases the size of the ventricles and puts pressure on the brain.* Though Samuel has some fluid, it is not progressing and hasn’t caused him any issues. *www.mayoclinic.org/diseases-conditions/hydrocephalus/basics/definition/con-20030706
- Acanthosis Nigricans- A skin condition characterized by areas of dark, velvety discoloration in body folds and creases. The affected skin can become thickened. Most often, acanthosis nigricans affects your armpits, groin and neck.* Samuel has this condition where his tracheostomy ties touch him on the neck. When he occasionally scratches, I apply Skin Relief cream. *http://mayoclinic.org/diseases-conditions/acanthosis-nigricans/basics/definition/con-20025600
- Small Rib Cage- My son’s chest area fits comfortably in the palm of my hand. He has a very small chest with hard and fixed ribs. One doctor looked at his x-rays and scratched his head. The smiling happy boy in the crib did not match his x-ray.
There are other variations within the diagnosis which I am not listing in an attempt to keep this article short and not completely technical.
Though Samuel is not designed like a Porsche or a Lamborghini, he is what my husband calls “God’s Alternate Construction.” His little parts come together to make this amazing, happy, full of life miracle. The diagnosis does not define him. Samuel defines Samuel as he continues to defy the odds.
How does your special needs child defy the odds? I’d love to hear your story.
Author, A Miracle In My Living Room