Hello.
It just occurred to me that perhaps there might be people seeking information about achondroplasia, especially country with small population, as the number of patients is smaller, and end up having less information.
I would like to write about daily life of my child, including the challenges my child and my family are facing in daily life and how we are coping. Hope the information will help family with achondroplasia kids learn how to live with this disease.
Before filling the information, I would like to say that I am very happy with my child. Glad to have my child as it is. I love my child.
This time, let me briefly introduce about my daughter and symptom of Achondroplasia.
How did we find out our child having achondroplasia?
My child is born 6 years ago. When she was still in the womb, we are told that legs growth is not following average figures, and as she got bigger in the womb, a doctor guessed that my child is having achondroplasia. People with this disease have shorter legs and arms than its average, besides larger head.
What was first health issue after the birth?
As this is bone disease, it could have negative impact on cranial bone growth (foramen magnum). This part of bone has to be bigger, but people with this disease tend to have smaller shapes, putting pressure on brain stem and cervical spinal cord. If leaving it untouched, this will cause something like breathing issue. Therefore, some portion of the patients need to have surgery on cranial bone. My daughter had already experienced this surgery a couple of times. She had to undergo such a surgery 4 month after her birth. By having this surgery, the bone putting pressure on spinal cord would be trimmed, removing its physical pressure. The reason why you sometimes need this surgery a couple of time is that as bone grows again, it will put pressure on spinal cord again. During the period that born growth is strong (especially 0~6 years according to a doctor), the patients may need to have this surgery. However, it does not mean every patients need to have this surgery. Also a doctors said that it is rare to have this surgery a couple of times. I think one of big health issues about this disease is the above surgery. My child has big scar on the rear of head (when the surgery starts, the part has to be opened). the scar is hidden by my child’s hair, though.
How are they grown up?
As they grow, body disproportion (shorter legs and arms with bigger head) becomes distinct. The height is up to average 125cm(adult, female, Japan average figures). Although there is physical constraint, talking or eating food starts normally. Holding up head or standing up head starts later than normal, but they come in their own time. Just timing is slower. they can eat anything, normally no restriction on foods. Also learning words starts normally as well.
I finish up my first blog.
Thank you for reading my blog.
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