Thursday, March 5, 2009

Kate Update: Day 684

Previously in The Saga of Kate, we had her tested for Smith-Lemli-Opitz syndrome (SLOS) and her tests came back negative today. The name along with the bit that Kris told me about scared the crap out of me so I never bothered to look it up. Below are a couple of the definitions I found.

emedicine:
Smith-Lemli-Opitz syndrome (SLOS) is a multiple congenital anomalies/mental retardation (MCA/MR) syndrome caused by a defect in cholesterol synthesis. SLOS is an autosomal recessive genetic condition caused by deficiency of the enzyme 3 beta-hydroxysterol-delta 7-reductase (7-dehydrocholesterol-delta 7-reductase [DHCR7] EC 1.3.1.21), the final enzyme in the sterol synthetic pathway that converts 7-dehydrocholesterol (7DHC) to cholesterol.

Affected individuals usually have low plasma cholesterol levels and invariably have elevated levels of cholesterol precursors, including 7DHC. Severely affected individuals (those with the condition formerly referred to as SLOS type II) have multiple congenital malformations and are often miscarried or stillborn or die in the first weeks of life. Dysmorphic facial features, microcephaly, second- and third-toe syndactyly, other malformations, and MR are typical. Mildly affected individuals may have only subtle dysmorphic features and learning and behavioral disabilities.
Here's another definition from the NIH's Genetics Home Reference:
Smith-Lemli-Opitz syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by distinctive facial features, small head size (microcephaly), intellectual disability or learning problems, and behavioral problems. Many affected children have the characteristic features of autism, a developmental condition that affects communication and social interaction. Malformations of the heart, lungs, kidneys, gastrointestinal tract, and genitalia are also common. Infants with Smith-Lemli-Opitz syndrome have weak muscle tone (hypotonia), experience feeding difficulties, and tend to grow more slowly than other infants. Most affected individuals have fused second and third toes (syndactyly), and some have extra fingers or toes (polydactyly).

The signs and symptoms of Smith-Lemli-Opitz syndrome vary widely. Mildly affected individuals may have only minor physical abnormalities with learning and behavioral problems. Severe cases can be life-threatening and involve profound intellectual disability and major physical abnormalities.
The first one is for the medically proficient. The second is for me.

Great news for us needless to say. She continues to disprove all of medical science. (I still believe she's the next evolution of the human race.)

In other news, she's been getting her Human Growth Hormone treatments for 6 or 7 weeks now. One shot every day (I've given her exactly zero treatments). She's non-plussed by it. No crying, no wimpering, nothing. Lah lah lah. She could care less.

According to measurements last week, she's already grown 3/4 of an inch so far (I still can't tell). She continues to eat like a horse. Her favorite food of late are Cheetos (Chester Cheetah!).

And she's still an absolute joy. Kate's taken to climbing the stairs now because she wants me to throw her onto the bed (a good 4 feet of air). She's never climbed the stairs without one of us prodding her.

She's also very spoiled. She's just so darn cute and still looks like a baby or toddler, maybe 2 now? She's going on 4 1/2.

The other day at school the teacher gave her a tray to carry to the table. She looked up at the teacher, grinned, and dropped (threw) the tray. We've instructed the teacher to be more firm with her (because we're not) so she scolds her. Then the lunch lady jumps in and says, "She's just a baby!" So it's difficult for anyone to scold this little girl. I feel bad for her future husband already.

I'll leave you with the queen on her throne (Dora couch) and some basketball with grandpa:

4 comments:

LewisC said...

She's an awesome kid. Very loving and sweet. I don't believe she's spoiled at all!

I'm glad she had a good time at the party and I'm even more glad (glader?) that the results came back negative. That sounds like scary stuff.

LewisC

Mike said...

I'm gonna make up a saying that might sound like somebody famous said it if I didn't tell you I just made it up (:-)):
Love kills science.
Yeah, a little variation on "Love conquers all.".
Just keep lovin' that baby girl and chances are good you'll keep defying the science.
Wishing you all the best, and better than that me and my family's prayers will be with you and mom and Kate.
-Mike

oraclenerd said...

@LewisC

Thank you sir.

She's definitely getting a bit more outgoing and it's fun to watch.

oraclenerd said...

@mike

Thank you.

Love conquers all.

The designer baby discussion that's been in the news? Kris and I have talked about that. Would we do anything different with Kate? Hell no. She's a random piece of beautiful work. Couldn't recreate that in a million years.