The story... the journey medically related

• Maisie qualified for SPED services in our school district under the Bayley III Cognitive Subtest 4/21/10. The cognitive score 5th percentile, Social 50th percentile, Communication 6th percentile, Adaptive 2nd percentile. 
• 5/17/2010- Eye doctor found a fairly high degree of hyperopin and astigmatism in each eye. She began wearing glasses for farsightedness. The doctor told me that when she is on my hip, she can't see my face. 

• 5/17/2010- Our pediatric doctor recommended seeing a Neurologist.
• 8/2010- Neuro states global developmental delays involving language as well as motor skills on a central basis. Ordered a MRI, Sleep deprived EEG, and obtained blood work for CBC, metabolic panel, plasma amino acids, thyroid functions, lactate, CGH, and methylation studies for Angelman Syndrome. 
• MRI showed- mild delay in myelination, mild prominence of the extrexiel fluid spaces over the cerebral convexities, structurally normal appearance of the brain.
• Sleep deprived EEG-  mild to moderate abnormal waking, mild to moderate degree of diffuse cerebral dysfunction. 
• All blood work came back normal!
• In the summer (2010) we added speech therapy and OT at a clinical setting. Once school started and I went back to work we dropped OT and kept speech. After we hit our max out of pocket for the year we added more therapies. We added OT in March 2 times and week and PT 1 time a week. We kept speech 2 times a week for a total of 5 therapy sessions plus the school district 1 time a week!
• October 2010 Maisie got tubes in her ears due to many ear infections. 
• February 2011 Maisie got her adenoids removed. Obviously we were seeing an ENT during this last year as well. We were concerned about her hearing and saw and audiologist as well. 
• In May (5/2011) we decided to seek out a Developmental Pediatric doctor. This was after speaking to a parent at an Early Childhood Special Education night. This is what the doctor found- Global developmental delays with significant hypotonia.
• Genetic Clinic 5/31/11 Maisie was 22 months old and they decided to do a workup for the UBE3A sequencing through the University of Chicago. They looked for Carbohydrate-deficient trnasferrin, UBE3A, and fragile X which are all genetically carried on. At this time I was about 3 weeks pregnant!
• After there was a red flag in the UBE3A sequencing Andy and I were tested to see if we were carriers
• Results!!! FINALLY an answer- UBE3A sequencing revealed a novel genetic change of c.1745_1747delCTT (not exactly sure! I was told she was missing 3 letters and not an entire chapter) corresponding to a three- base pair deletion and leading to the loss of a serine amino acid residue. Although this has not been described in previous patients, it was deemed similar to other genetic changes that cause the condition. Parental testing revealed that the change was de novo (began with Maisie, not carried by one of us). Which dropped the recurrence rate significantly for our baby on the way!