My Daughter and Congenital Spondyloepiphyseal Dysplasia

My daughter is two and a half years old. I noticed something was wrong when she began to walk–she would fall, limp and seemed shorter than the other children her age. We took her to a hospital in Beijing. Once we were there, a doctor took an x-ray and determined the problem. She was diagnosed with spondyloepiphyseal dysplasia.

Spondyloepiphyseal dysplasia congenita is an inherited disorder of bone growth that results in short stature (dwarfism), skeletal abnormalities, and problems with vision and hearing. This condition affects the bones of the spine (spondylo-) and the ends (epiphyses) of long bones in the arms and legs. Congenita indicates that the condition is present from birth. (NIH)

The doctor said that she would have difficult growing, that there was no treatment and that the incidence of this disease was one in 100,000.

I collapsed where I stood, despair overcoming me–what would my child’s quality of life be?

I was unwilling to face the challenges ahead of us–but I had to overcome it, for her.

As parents, we have to be cheerleaders. We have to educate our children, try our best to make them happy so that they can do the things that normal children can do.

I know there is hope for my doctor because I’ve seen my father-in-law’s brother’s daughter have this disease and she is 35-years-old. She is 90 centimeters tall, performed well in school–and is happy.

I hope one day someone will find a cure or a treatment for my daughter so that she might live a more normal life.