2 Year old, Geneticists, Neurologists... Ugh!

Amber • Hello Everyone! Thank you for stopping by my profile! I am currently the mother of a wonderful autistic 5yo girl named Aria, and baby Lyra who was born in September. I’m pretty blunt and I live in fact, I don’t sugar coat. Be warned. Aria - 1/27/18

Hello Glow, boy it’s been a while since I had my beautiful little girl. Aria has been growing and changing everyday. Today I want to share a bit about her, what’s been going on and see what other parents think.

Meet Aria! This is my very small (21lb) 2 year old. Aria has about 8 useable words in her vocabulary. Her main communication is by leading. She still to this day won’t use the sign we teach her. She can count to four, she can undo deadbolts, open doors, run, climb on everything, draw and hold a pen correctly, and do those stupid lacing beads that hurt when you step on them. Aria has seziures. They aren’t long, or often, but she does have a prescription for Diastat just in case. Yey, drugged baby butt jelly!

Aria loves other children, dancing and music, and being outside. She also likes baths. We currently are trying to get her into see a geneticist. This is because she has 5 different therapists ranging from nutritional to occupational and speech, and is in Early Intervention, a primary care physician and a neurologist who are all kinds scratching their heads....

Aria sometimes doesn’t sleep through the night. She doesn’t eat much. She has a confirmed a Homozygous MTHFR mutation however it is doubtful that this is the reason. I’m thinking it’s Angelmans syndrome but she runs and climbs like no tomorrow. Honestly if she talked I wouldn’t assume anything was wrong except she has seizures. I’m worried about her abs nervous. Anyone know how to help w kid who uses leading?

Here’s a tiny her.