|Diagnosis||10q25.2 del 11q25|
|Parents||George and Lisa Tremopoulos|
|tremopoulos [at] gmail [dot] com|
I am putting together some information to add to the website about our little cherub Yianni. Yianni, our second son, was diagnosed with partial trisomy 10q when he was about 4 to 5 months old. He is now 2 1/2 years old and continues to delight and challenge us daily. Yianni is apparently the only known case in Australia so to join your group has been important to both George and I.
Here is a little about Yianni's journey so far...
Yianni was born full term at average weight. Other than a lazy eyelid there was no sign of any medical problems or complications. Over the first few weeks Yianni was slow to gain weight hovering around the third percentile on the charts. When a number of interventions didn't improve the situation, the paediatrician ordered numerous test including genetic test. It was some weeks before we got a call to the Geneticist's office and by this stage we had become very concerned about Yianni's failure to reach average milestones in his development.
By his sixth month we introduced solid foods in an attempt to bring his weight up. Almost spontaneously reflux began with a vengeance. The situation deteriorated to the point where Yianni, was admitted to hospital and tube feeding began. By one year old, Yianni, had had a fundoplication and a G-tube. He continues to be tube fed overnight and we continue the battle to try and get him to eat with the help of the speech pathologist.
Early on, Yianni, was also diagnosed with a moderate to severe conductive hearing loss. This diagnosis has since been reassessed as a mild conductive loss.
He is now pulling-up, sitting, crawling and cruising the walls. He is also capable of taking one or two steps on his own but frustratingly rolling remains his preferred means of transport.
Well this is where we are at as tests and early intervention programs keep us busy. I guess our story is only too familiar. It is amazing what courage and strength you can dig up when pushed and in this way our little cherub has inspired us in so many ways.
Cheers from your new friends in Australia