Elle – 9 years old
- First smile – 6 weeks
- Sitting on her own – 5 months
- Rolling over – 5 months
- Can say mama, dada, baba (bye-bye), nyn-nyn (nite-nite) and Avo, plus lots of babbling – 8 months
- Crawls (begins with commando crawl and then progresses to hands and knees) – 9 months
- Pulling self up to stand in crib – 9 months
- Walking on her own with push toy – 11 months
- Can clearly say: bye-bye, duck, bike, dog, bath, bum, pool, milk and continues to use the words from 8 months – 11 months
- Uses anything she can to cruise – 12 months
- Plays peek-a-boo, climbs up the stairs on hands and knees, can clap her hands, give five, wave bye, can point to her teeth, hair, and belly – 12 months
- Takes a few steps on her own – 13 months
- Walking independently -14 ½ months
Around 17 months – we notice that Elle isn’t using her words as much nor as clearly. We ask her daycare teachers who indicate that two new children started and felt that sometime kids regress a little when younger children join the room (we now know it was likely the beginning of the regression associated with Rett Syndrome).
- First physio appointment – 20 months
- First speech therapy appointment – 23 months
- First occupation therapy appointment – 30 months
Diagnosed Global Developmental Delay – April 19, 2010
First known seizure – March 28, 2012
Diagnosed Rett Syndrome – C to T variant at nucleotide 397 in exon 4 of the MECP2 gene – October 26, 2012
Although there are many things that Elle struggles with, she:
- is a happy, loving, affectionate, little girl.
- loves to read, going to church, spending time with her family especially her little sister.
- is currently in SK.
- Working on learning her ABC’s and counting to 10.
- loves to swim and learning to skate.
- can feed herself (although always a little messy).
- is fully toilet trained during the day.