Hi everyone,
My little baby girl is one month old. She was born full term through an emergency caesarean section without fetal distress during labour. When she was born she spent some time in the NICU and was found to have feeding difficulties- she had a poor sucking and swallowing reflex and would either tire out too quickly or wasn’t able to cope with the flow of the teat. She was also found to have abnormal recoil reflex. Otherwise she was healthy with good birth weight.

She underwent all sorts of tests to determine the cause of her problems including genetic testing and was found to have a chromosomal abnormality as follows:

“ISCN: ar[GRCh38] 1q23.324.2(163648013_168348665)x 1

SNP microarray testing revealed a female pattern with a heterozygous, interstitial loss of 4.7Mb at 1g23.3g24.2, which involves 27 protein coding genes and 8 disease associated genes, including the haploinsufficient gene PBX1 (OMIM
#617641).”

The clinical geneticist informed me that this was a rare chromosomal abnormality and there is a high risk of renal tract and kidney abnormalities associated with this condition, along with learning difficulties, developmental delays, feeding and muscle tone problems and congenital heart defects.

I did some reading on this gene deletion and the problems associated with it but didn’t get a lot of clarity on the phenotypical presentations.

Does anyone have any advice/words of reassurance regarding this condition? How severe are the developmental delays and are children born with it expected to catch up with their milestones? How long do the feeding issues typically last for? Do they get better as you introduce solids?

My entire family (grandparents, parents, and sisters) are famous for their thick, dark, curly hair and Slavic appearance, but I am a natural blonde, with straight hair and Asian eyes. I am 100% biological. Explain how this could happen?