|Diagnosis||de novo 10q trisomy [10q25.3q26.3 (117,840,939-135,506,704) x 3]|
|Parents||Arvind Sivasubramanian and Mohita Iyer|
|City||Santa Clara, CA, USA|
|arvind.siva [at] gmail [dot] com|
June 21, 2016
Our second child Naveen was born in November 2012. The 20 week prenatal ultrasound revealed an EIF (Echogenic Intracardiac Focus), i.e. a bright spot on account of possible calcium deposits in the heart muscle. We were advised that this was a soft marker for Down Syndrome, but not to worry as this was a rather common finding and every other test looked fine. The delivery itself was uneventful, and save for the low birthweight (6 lbs), high bilirubin count (which resolved within the first week), and some initial reflux difficulties, Naveen was a healthy infant. At the four month well-child check, Naveen’s keen-eyed pediatrician noticed his low muscle tone and certain physical traits, and recommended genetic testing, which lead to the formal diagnosis of de novo 10q trisomy [10q25.3q26.3 (117,840,939-135,506,704) x 3]. Naveen also had some flatness on one side of his head which was initially thought to be 10q-related craniosynostosis, but it turned out to be positional plagiocephaly on account of his sleeping position. He wore a corrective helmet over a 3-6 month period.
We started Early Intervention for Naveen at about 7 mos of age, private PT and OT at 12 mos, and speech therapy at 20 mos. Naveen started attending a preschool program through Early Start at 30 mos, for a few hours each week. When he turned three, he was placed along with five other kids with moderate to severe delays in a special day class in our local (pre)school, 2 hrs. per day, five days a week. Naveen has been to the NAPA Center in Los Angeles twice for their 3 week intensive therapy program and we have seen big jumps in his gross motor and even speech right after these visits.
It is hard to believe how far Naveen has come along! We recall that he sat upright at about 8 months, crawled at 18 months, started walking cautiously just before his 3rd birthday, climbed onto furniture at around the same time etc. He used to have great difficulty (much more so than our typical older child) managing his sensory issues, such as being around strangers who came to our home or separation anxiety at school, but things are much more under control now. His speech delay was a source of worry until his 3rd birthday, because he would speak only single words or two word combinations. However, soon after, we have seen a marked increase in his vocabulary and willingness to communicate. Preschool has obviously played a big role, and so have the constant interactions with his older brother, grandparents and extended family. He is now able to form and speak a few full sentences and expresses what he wants ~60% of the time, but clarity is still a concern. He loves being read to, and it is exciting to see him recognize sight words and sentences in his favorite books.
Potty training isn’t going all that well, but we are trying! Naveen can feed himself with a pincer grasp, or with a fork/spoon, but his fine motor needs more work. He has some stimming tendencies, such as holding his toy cars close to his eyes and moving them back and forth, or vigorously shaking his head from side-to-side when he cannot contain his excitement.
Naveen is a delightful child and we are so proud of how sociable he is and how he always likes to make new friends!