Wednesday, August 21, 2013

8/20/13 RSS and the Mother Chromosome 7

When Sam was diagnosed with Russell Silver syndrome, way back in 1997, there was only a fledgling internet, enough to look it up and read some vague descriptions of groups of symptoms that made up RSS.

What I could discover was that the most difficult symptom of RSS babies had let us off with only slight appetite issues. She never had to have a GI button surgically implanted to feed her calories overnight. She didn't gain much weight (she had gone from 4 pounds at full term birth to 12 pounds at a year old) but since they didn't actually pin down a diagnosis until she was two, and we had soldiered on, filling bottle with chocolate milk her second year to keep weight on her, we'd weathered that storm without even knowing it. Granted, it required her front teeth to be capped at age 3, but looking back, I really think that kept her from wasting away while we waited between specialist appointments and tests and blood draws.

Now there are conferences and groups and studies that push along what we know and still need to discover about RSS. 

I was telling Sam about a small group of RSS patients who show a chromosomal abnormality called  "maternal uniparental disomy" on Chromosome 7.  Since only about 1 in 100,000 births are affected by RSS, and less than 10% of those have been linked to the maternal gene, it might be reaching, but we both shared a laugh over it.

You see, maternal uniparental disomy occurs when a copy of my genetic material on chromosome 7 is duplicated instead of getting the matching one from the paternal unit. In other words, there are about 159 million base pairs that are twice me and no Bob imprinted on Sam. 

She said, "oh, that would explain so much..." and we looked at each other in that mirror image way we have and just cracked up. 


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