Like all kids with Williams Syndrome, Ava has a myriad of health and developmental issues. Here's a tidy little list for you:
- SVAS, or supravalvular aortic stenosis. Always there, lurking, waiting for an inopportune time to send Ava to surgery. Probably responsible for her cold, somewhat blue extremities.
- Spina bifida occulta. Sometimes referred to in our family as "Ava's double butt crack". A bony protrusion from her tail bone, with deep dimpling. You can literally grasp it with your fingers. Feces get stuck in the dimple, and the skin over it actually bleeds. The doctors seem to think it won't cause any problems. Yeah, right.
- Chronic constipation, even with daily laxatives.
- Severe gastroesophageal reflux with aspiration. Daily vomiting and retching. Inability to eat much more than Gerber puffs, stage 2 baby foods, and Pediasure, all in very small amounts.
- Anxiety. I can see it worsening, and it scares me.
- Sensory issues. Ava scratches and digs at any exposed skin. She is a "picker". She loves to jump, shake her head vigorously, and spin things.
- Visuospatial issues. Ava sits, crawls, stands VERY CAREFULLY. She is unable to stack blocks or put toys in a bucket.
- Speech delays. She can say mama, amma, wha-ah-yah, and sometimes dada.
- Gross and fine motor delays. She can toddle a little, but not much. She cannot point or pick up a cheerio with her thumb and index finger. She has adapted though, and can shovel in the Gerber puffs with her other fingers.