My name is Arabella, I was born on 12 January 2017 and this is (just the beginning)
of my story.I have a genetic disorder called #DiastrophicDysplasia. It is a disorder of cartilage and bone development. According to Genetics Home Reference affected individuals have short stature with very short arms and legs. Most also have early-onset joint pain(#osteoarthritis) and joint deformities called contractures, which restrict movement. These joint problems often make it difficult to walk and tend to worsen with age. Additional features of diastrophic dysplasia include an inward- and upward-turning foot (#clubfoot), progressive abnormal curvature of the spine, and unusually positioned thumbs (hitchhiker thumbs). About half of infants with diastrophic dysplasia are born with an opening in the roof of the mouth (a cleft palate).
Swelling of the external ears is also common in newborns and can lead to thickened, deformed ears.Mommy first found out that there was something wrong with me during her ultrasound at 22 weeks of her pregnancy. It was clear that I h
ad bilateral clubfeet and that my arms and legs were very short in comparison to my body.I was born on 12 January 2017 via cesarean. After birth I was wrongly diagnosed.
At the age of 5 weeks I had swelling of the external ears. This was unexpected since
I wasn’t diagnosed with diastrophic dysplasia at the time. On 14 February 2017 I
went into theater where they inserted drainage pipes into my external ears. The goal
was to get rid of the fluid build up and to prevent my ears from deforming. Due to the
swelling of my ears doctors were able to diagnose me with diastrophic dysplasia.
Unfortunately the swelling led to thickened and deformed ears but a prosthodontist is busy working on a treatment plan that would hopefully get my ears looking normal again. I’ve got one of the worst cases of bilateral clubfeet and thus manipulation treatment won’t be able to fix it. I had my first feet operations on the 15th of March 2017. I wasn’t born with a cleft palate and I don’t have obvious hitchhiker thumbs (they are only slightly turned). I do have some breathing problems but other than that I’m a healthy and happy baby. This is just the beginning of my story and only time will tell what is yet to come. Although the future may be unknown there is one thing that I know for certain and that is that I AM SPECIAL!! Although the exact prevalence of diastrophic dysplasia is unknown, researchers estimate that it affects about 1 in 500,000 newborns in the United States.