niece, holidays, and more...
hey, gang. i've really enjoyed my time away from the grind, away from the internet, and away from clocks. alas, it couldn't last. i spent new year's eve reminding myself of the following lessons:
nothing ridiculous, but i had one champagne too many. flying to the coast the next day was a little unpleasant, but i was right as rain in time to eat my mom's King Ranch Chicken that night at the beach. the next day i performed my glittering duty as the gumbo fairy and made a great sausage/chicken/oyster gumbo that we noshed on for two days. rose and i were intrepid pioneer cooks in an under-equipped kitchen, though. i melted two spatulae (spatulas?) trying to make the roux in the microwave. she had to squeeze a dozen limes by hand for the pie, and we resorted to nuking them, too. who ever heard of dry limes? we had to do all our cooking with only two small mixing bowls, and we had to share those with my dad and his personal mission to boil off 10 lbs. of shrimp in three days. he kept hijacking our bowls to thaw shrimp in, or to ice them after he cooked them. one way or another, i kept having to rescue my bowls from icy shrimp.
my niece is ok and at home again. her presumptive diagnosis is mitochondrial disease. she has a gastric tube now, as it is expected that she will pass through periods of not-eating for the rest of her life. her geneticist suspects that my other nieces' odd health issues are likely caused by this condition, as well. mitochondrial DNA comes exclusively from the mother, so the transmission rate is 100% from a mother to all her offspring. so it's likely my sister has it, and that could be part of why she has had a lifetime of weird allergies and (most recently) CIDP. if that's the case, then my other sister's auto-immune condition is likely related. and that means i've probably got it, too. mitochondrial disease can be, and frequently is, caused by random mutations in the mitochondrial DNA. since you only get that type of DNA from your mom, it's not subject to the sorts of dominant/recessive checks and balances that limit transmission of most hereditary diseases.
nobody knows how long my niece has to live or how this will progress. of course, that's true for all of us, and even knowing or believing that death isn't the ultimate bad, or even the ultimate END, i still feel sad knowing this about such a young life. the only treatments for mitochondrial disease currently are to keep the symptoms as quiet as possible. you can sometimes limit the systemic damage that way and give the person a better quality/quantity of life.
this is where we get to the "and more" part. it raises questions about my ability to have healthy children. i haven't abandoned the plan yet, but step 0.5 is now a genetic consult. i'm going to put all further discussion of lesbian baby-making behind a filter, and it's strictly opt-in. if you want in the filter, leave a comment to that effect. i expect that there will be a lot more joy in the process once this cloud has been dealt with one way or another.
Happy New Year to one and all!
- thou shalt not drink champagne. much.
- even if it is made to taste like sour warheads candy.
- grrrrrl, you canNOT sing disco.
- do we even need to tell you what a bad combination karaoke and champagne cocktails are?
- ABBA counts as disco.
- if the champagne starts to taste good, refer to rule 1.
nothing ridiculous, but i had one champagne too many. flying to the coast the next day was a little unpleasant, but i was right as rain in time to eat my mom's King Ranch Chicken that night at the beach. the next day i performed my glittering duty as the gumbo fairy and made a great sausage/chicken/oyster gumbo that we noshed on for two days. rose and i were intrepid pioneer cooks in an under-equipped kitchen, though. i melted two spatulae (spatulas?) trying to make the roux in the microwave. she had to squeeze a dozen limes by hand for the pie, and we resorted to nuking them, too. who ever heard of dry limes? we had to do all our cooking with only two small mixing bowls, and we had to share those with my dad and his personal mission to boil off 10 lbs. of shrimp in three days. he kept hijacking our bowls to thaw shrimp in, or to ice them after he cooked them. one way or another, i kept having to rescue my bowls from icy shrimp.
my niece is ok and at home again. her presumptive diagnosis is mitochondrial disease. she has a gastric tube now, as it is expected that she will pass through periods of not-eating for the rest of her life. her geneticist suspects that my other nieces' odd health issues are likely caused by this condition, as well. mitochondrial DNA comes exclusively from the mother, so the transmission rate is 100% from a mother to all her offspring. so it's likely my sister has it, and that could be part of why she has had a lifetime of weird allergies and (most recently) CIDP. if that's the case, then my other sister's auto-immune condition is likely related. and that means i've probably got it, too. mitochondrial disease can be, and frequently is, caused by random mutations in the mitochondrial DNA. since you only get that type of DNA from your mom, it's not subject to the sorts of dominant/recessive checks and balances that limit transmission of most hereditary diseases.
nobody knows how long my niece has to live or how this will progress. of course, that's true for all of us, and even knowing or believing that death isn't the ultimate bad, or even the ultimate END, i still feel sad knowing this about such a young life. the only treatments for mitochondrial disease currently are to keep the symptoms as quiet as possible. you can sometimes limit the systemic damage that way and give the person a better quality/quantity of life.
this is where we get to the "and more" part. it raises questions about my ability to have healthy children. i haven't abandoned the plan yet, but step 0.5 is now a genetic consult. i'm going to put all further discussion of lesbian baby-making behind a filter, and it's strictly opt-in. if you want in the filter, leave a comment to that effect. i expect that there will be a lot more joy in the process once this cloud has been dealt with one way or another.
Happy New Year to one and all!