oh, alright. I am NOT here

but maybe soon
I have been on facebook almost long enough to be tired of it. I have spent a little time on creating a video about Ezra's Bannayan Riley Ruvalcaba Syndrome. That should be done this month. A mom with a boy who had a related overgrowth condition commented on my YouTube dx ramble.
I think i didn't add a single dress in October. I have about 3 ready to go, but i was too focused on my Halloween costume (flAbby proSciuto a fat version of Abby on NCIS)There's about 30 of 100 remaining, and i am uninspired! ack!!


I was reading at this blog , and figured if i want to find it again, i better write myself a note.

ok.... i am here

I haven't had time or topics to blog lately. I have been using facebook for the brief life updates i have.
like... my husband the flora-squashing ogre. yeah, he's painting the entire exterior of our house, but come on man! think of your wife and her delicate young plants just a little.



delphinium.... i would have had

Ezra's follow up with genetics was yesterday. road construction travel was grueling. Both boys were exceptionally well-behaved. No new info.

I made it to 50 dresses! yay me. I have another 5 or 6 to stick down and photograph
no time
summer hols, with 2.5 hours respite (summer school) each morning.

Positive

We got a call about Ezra's genetic testing. We'll have to go see the specialist again before i can say much else. He does have a PTEN mutation consitent with Bannayan-Riley-Ruvalcaba.

School is out for a few weeks and Monday is Christopher's 11th birthday, so i feel a little frazzled

Ezra's Escape

In the hustle and bustle to pack lunches and backpacks, and find 2 clean pairs of boy-sized socks, I noticed a light in the kitchen. I knew that the dog had bashed the door open. Ezra had been looking at the calendar after using the toilet, but I knew he'd go straight outside given the chance. You should've seen the absolutely giddy boy, naked on the swing.

Rudely Interrupted

Please also watch their documentary
Sam, the bassman, is too much like Christopher. LOL
in this pic he was around 5 years old!


see also Heavy Load in the UK

Christopher's Track Meet

Yes, my son participated in a city-wide Track & Field Competition, and I went to cheer him on. C enjoys physical activities, but not in a competitive way. I considered keeping him home on the day of the event, but i have so much trouble keeping track of the date, i didn't realize it was today. Besides, the gym teacher knows these kids. I don't think she'd ask more than they could do. She wouldn't want them humiliated or dejected.

This morning started with a trip to the hospital lab to get Ezra's blood drawn for the BRRS testing. It took a while for the staff to figure out what they had to do. Ez was great. He only flinched a little when they stuck him, but didn't struggle as they filled the vials. He picked off the gauze and tape... then the gauze and band-aid, but by then the bleeding had stopped, so that was just fine.

While we were waiting, I called home to tell dh it was taking longer than I expected (and in my mind, he would offer to help C get downstairs and fed... i can dream) anyway, C picked up the phone first, and though he said nothing, when I said, "Tell Christopher to get his butt downstairs", we heard him hang up. lol

He still hadn't come down when we got home. much chaos later, Ez was on his beloved school bus, and i was packing C's school bag, when I noticed the teacher note from yesterday...
Track Meet Tuesday - dress for the weather.
dress for the weather, i couldn't even find a clean pair of pants for him. sad excuse for a mom.

anyway, I put him in a not-so-dirty pair of jeans, and we drove to school. The school (PTO) provided them with team t-shirts. The only school out of 5 or 6 in town who did. we are so fortunate!
My guy did a few throwing events,cheered on runners, and then they had a race for the (severe)SN kids. In all the hubbub this am, i forgot my meds. I might've cried anyway. Many of the boys were able to run independently, and with great pride and enthusiasm. A girl in a wheelchair had 2 girls pushing her at a run. Another Downs girl had a helper-girl hold her hand and keep her running. My little man had 2 girls running along side of him. I wish I'd had a camera! here come the tears again. I overheard his helpers saying good job to him afterward. I was so pleased that they were really there for him.

The DS girl's mom was there for awhile(before she had to leave for work at the same place dh works), telling me horror stories about the school district she lives in. They have had to fight hard to send their daughter to our school. SO worth it.

Down-slanting Palpebral Fissures

• downslanting palpebral fissures: The eye openings (the horizontal slit of our eye) is downslanted, which means that the outer corner of the eye is lower than the inner corner - for contrast, individuals with Down syndrome typically have upslanted palpebral fissures, so the eyes slant up, as in Asian populations (another reason for the earlier tendency to call Down syndrome 'mongolism".) (from www.22q13.org)

random example


ezra's eyes (which the geneticist didn't find particularly down-slanting)


Christopher's eyes (not particularly up-slanting for Downs)