Yuliya
Inversion (16) (p13.3 q12.1)
Our little Yuliya was born on February 13, 1998. She is our second baby, My pregnancy was going without complications. The labor was rapid; she was delivered vaginally without any complications. Her weight was 3800 kg, 53 cm high, Apgar 8/8. On the third day we left the hospital as perfectly happy family. At first everything seemed fine. The girl was gaining weight properly. At the age 5 months she started vocalizing, at 7-8 months she started babbling. She learned to sit at 7 months. She walked on her own at 1 year and 2 months. During this time she passed several courses of massage and physiotherapy. But our main problem was retardation in mental and communication development. She did not react when her name was called, had difficulties in understanding conversation, was not able to perform simple instructions. Her physical development was normal for age. We started testing her with the specialists at about 14 months old. It was then that we learned out baby had an inversion of chromosome 16. My husband and I were both tested and the tests showed our karyotypes were normal. The biochemical blood tests showed hyperlipoproteideima. Urinalysis was normal. Other tests were as follows: hearing and visual ability normal, Eho-EG: enlargement of the 111 rentricle-7.25 mm (normal-4.0 mm). EEG: absence of local brain defects, diffuse changes of the electric brain activity, irritation of the mesencephalic and brain stem structures. Inner organs with no pathology. Neurologists came up with diagnosis of mild mental retardation and communicative disorders.
Now we execute all the doctors' prescriptions. Our daughter grows, she walks good, runs. Walking she often rises on the toes, gets tired rather quickly. She does not speak. She still does not react to her name or someone's voice. She is able to concentrate on commercials, cartoons, she likes music. In our opinion she has intelligent expression, her eyes show her feelings and emotions. She has mobile features. Yuliya belongs to the loving family, everyone cares about her - my husband and me, her little sister, granny, and grandpa.
We do not lose hope. We pray to God and trust the doctors' competence. We believe in child's nervous system plasticity. It is hard to find out what in our situation is connected with genetics and what is connected to CNS injury. What could be changed and what could not? But still we be sincerely grateful for any response to our story of parents, doctors, anyone who could give us some advise, a helping hand on the way to recovery of our little daughter.