Q7 of Q&A

A: It is called (full) trisomy 13 (-- but fortunately with no holoprosencephaly in Katya's case). Each cell in her body has an extra chromosome number 13 (out of 21 chromosomes, or out of 22 including the sex chromosome). Instead of there being a pair of chromosomes at each chromosome number -- one from the mom and the other from the dad -- something not understood by science goes wrong and these children get an extra chromosome number 13). The syndrome has compromised literally every cell in Katya's body, including those in her brain which ends up being very severely challenged from its normal functional state. It is a very, very bad syndrome to have -- one of the worst illnesses one can have. It is typically grouped in the literature with trisomy 18 which is very similar and more prevalent. (Remember, Katya fortunately does not have the further-debilitating holoprosencephaly feature.) The prognosis is described in more detail a few paragraphs below, but to summarize: of the few that do survive infancy, there is a very high probability that they can experience life as generally happy kids, albeit with severe developmental delays and severe psychomotor challenges. The survivors are definitely not, however, 'vegetables' or 'innately emotionally miserable' -- contrary to what some would effectively have you believe.


				*For Friends of Katya Maria Sansalone* *Q7 of Q&A*



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		Q: What is Katya's chromosomal defect?



		A: It is called (full) trisomy 13 (-- but fortunately with no holoprosencephaly in Katya's case). Each cell in her body has an extra chromosome number 13 (out of 21 chromosomes, or out of 22 including the sex chromosome). Instead of there being a pair of chromosomes at each chromosome number -- one from the mom and the other from the dad -- something not understood by science goes wrong and these children get an extra chromosome number 13). The syndrome has compromised literally every cell in Katya's body, including those in her brain which ends up being very severely challenged from its normal functional state. It is a very, very bad syndrome to have -- one of the worst illnesses one can have. It is typically grouped in the literature with trisomy 18 which is very similar and more prevalent. (Remember, Katya fortunately does not have the further-debilitating holoprosencephaly feature.) The prognosis is described in more detail a few paragraphs below, but to summarize: of the few that do survive infancy, there is a very high probability that they can experience life as generally happy kids, albeit with severe developmental delays and severe psychomotor challenges. The survivors are definitely not, however, 'vegetables' or 'innately emotionally miserable' -- contrary to what some would effectively have you believe.



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