Trisomy 8 Mosaic Syndrome - some of the cells in her body have 3 copies of the 8th chromosome.
Symptoms
Agenesis of the corpus callosum,dysmorphic facial features, low-set or abnormally shaped ears and a bulbous-tipped nose, eye abnormalities like strabismus and corneal clouding, bone and tissue abnormalities, various structural heart problems, palate abnormalities, hydronephrosis, cryptorchidism, mild to moderate mental delays, and deep hand and feet creases. These characteristics tend to vary widely from person to person.
Tests/Diagnosis
Blood chromosome testing or skin chromosome testing.
Treatments
No treatment for chromosome disorder. Treatment is correction of medical conditions associated with the disorder.
Resources
http://www.healthline.com/
http://www.rarechromo.org/
Personal Story
KiKi was born at 37 weeks and the first year of her life was spent keeping her alive. Since then, she has done really well, except for her ears. Because of the craniofacial deformities, she has constant ear infections with massive draining. Surgery tomorrow (June 5) for I don't know, the 10th time maybe?
She just started walking over St. Patrick's day weekend. I don't think she has sat down since, she's making up for lost time.
She is functionally non-verbal. She has some sign language she uses and we are starting to use a picture board for her to communicate her needs/wants.
She is happy, loves everyone and in spite of all the hospitalizations and surgeries. She is the love of my life (except for her brother!) and I cannot imagine life without her.
Here is the link to an interview I did last year for our local children's medical center radiothon. The words and music are the interview, I added the pictures, hopefully this will give you an idea about how wonderfully perfect Kiki is!
Contributed by MOM Bea Hall to see more about KiKi, here is a YouTube video her mom shared.
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