Anna's Story
Birth-One
Two-Three
Three-Four
Five-Seven
Anna's Pictures
Anna's Pictures, Part 2
24 months: Ortho eval at Scottish Rite showed no signs of scoliosis or need for orthotics. Developmental pediatrician recommends behavioral changes to manage Anna's eating and sleeping issues. Fine motor skills assessed 4-6 months behind, gross motor 2-4 months behind. Speech eval showed skills ranging from 9-18 months behind in 5 categories. Anna now has 7 words and 25+ signs.
Follow-up with geneticist and 2-year checkup with pediatrician. One final test is being run for Angelman Syndrome (UBE3A analysis). Geneticist is presenting Anna's case at national genetics conference. Referred to devopmental pediatrician for a developmental eval. PT recommended, seeking private PT services. Pediatrician stats: 22 pounds (<5%), 32.75 inches (20%), 45 cm head circumference (<5%).
23 months: DNA methlyation for Angelman came back negative. Other genetic tests also negative (Rett Syndrome, 7-dehydrocholesterol, and glycosylation defect). Anna learned how to blow through a straw and blow bubbles in the bath water! Anna's case can now be reviewed by Scottish Rite for the ortho eval.
22 months: FISH for Angelman came back negative. Continuing with DNA methlyation study, then gene sequencing for Angelman. Still waiting on the rest of the genetic test results.
21 months: met with nutritionist. Anna's nutritional needs are being met with her current caloric intake. It's okay to keep her on the bottle for now. Yahoo!
20 months: met with the geneticist. She's ordered the following tests: chromosones, Rett Syndrome, Angelman Syndrome, 7-dehydrocholesterol, and glycosylation defect. Should have results in 3 weeks. Weight 20 pounds, 2 ounces. Head circumference charted at 50% for a 9-month old.
20 months: visit with neuro, confirmed hypotonia, microcephaly, failure to thrive, and global delays. Referred to geneticist for genetic testing and possible muscle biopsy, nutritionist to evaluate caloric intake and needs, and orthopedist for possible AFO (ankle-foot orthosis) for left ankle, evaluation for potential scoliosis and x-rays. Also recommended melatonin to help with sleep issues. We also got a new prescription in her glasses with astigmatism (-7 prescription). Weight about 20.5 pounds.
17 months: MRI, metabolic tests, all normal. Tests included complete metabolic panel, lactic acids, amino acids, organic acids, thyroid.
15.5 months: walked independently. Speech evaluation showed expressive and receptive language skills at 10-12 months. Started ST.