Hypochondroplasia kid: Go with Your Gut

What is hypochondroplasia?

Hypochondroplasia is a form of short-limbed dwarfism. This condition affects the conversion of cartilage into bone (a process called ossification), particularly in the long bones of the arms and legs. Hypochondroplasia is similar to another skeletal disorder called achondroplasia, but the features tend to be milder.

All people with hypochondroplasia have short stature. The adult height for men with this condition ranges from 138 centimeters to 165 centimeters (4 feet, 6 inches to 5 feet, 5 inches). The height range for adult women is 128 centimeters to 151 centimeters (4 feet, 2 inches to 4 feet, 11 inches).

People with hypochondroplasia have short arms and legs and broad, short hands and feet. Other characteristic features include a large head, limited range of motion at the elbows, a sway of the lower back (lordosis), and bowed legs. These signs are generally less pronounced than those seen with achondroplasia and may not be noticeable until early or middle childhood. Some studies have reported that a small percentage of people with hypochondroplasia have mild to moderate intellectual disability or learning problems, but other studies have produced conflicting results.

Sunday, January 17, 2010

Go with Your Gut

It seems that the more I hear from other moms that have children with hypochondroplasia,, the more I hear my same story repeated over and over. I knew something was wrong or different with Coleman from early on. His back was crooked, his colic and respiratory problems were so severe. I had a gut feeling that I was right. The pediatrician told me he was just small. Small? I'm 5'10, my husband is 6'1, my dad is 6'4 . Small was not in the cards for my kids. I went to Dr. Chen who is my special gift from God and he is the one who gave us answers. I have had to find things for myself. This whole experience has made me realize what I am capable of achieving with determination and my families help. Therapy, measuring, growth hormone shots, geneticist, hypochondroplasia, questioning doctors, trusting doctors. These things are all new to me and it is scary to have a hunch, not a medical degree. I urge all of you mom and dads to go with your gut. The worst that could happen is you swing and miss. Don't wonder if you could have done more, know that you did all you could do.