Hi Ms Rainbow,
Just to share my boy’s journey. My amnio was normal.
However at birth, he was diagnosed with TOF. We were terribly worried as we were not prepared for the heart defect condition and we understand that it would be a open heart surgery. He was subsequently referred to cardiac KKH and was operated at 3 mths old by Dr Shankar ( the best cardiac paediatrician surgeon). We brought him to see Dr Shankar as he was experiencing poor feeding and constantly turn blue. Dr Shankar gave his opinion that his heart defect was not TOF but a large VCD to be corrected. He needs open heart surgery to patch the leak. Instead of surgery at 9 mths old, we decided to go ahead with surgery at 3 mths old. Surgery was a success and he was in the icu for about 2 weeks. U got to prepare yourself that it will be v tough and heart wrenching to see him in the ICU as he will have a lot of tubes attached to him. With the heart surgery a success, the genetic specialist sees us with more bad news. The chromosome test that they did on him showed that he has chromosome disorder which was not pick up by the amnio test. The name of the Chromosome test is known as the FISH test. He was diagnosed with Di George syndrome. It has a large spectrum of possible complications and the most crucial problem is Low immunity and heart defects. He falls sick easily and his development was v slow in terms of cognitive and physical. In the past, I thought that once amnio is clear, the baby should be born healthy and we were wrong. Amnio picks up the more serious chromosome problem but actually there can many variations to chromosome issues.
To fast forward, my boy went through therapies to strengthen his occupational, speech through rainbow centre (3 days a week) and we also put him under normal childcare (2days a wk). He struggle in the normal childcare as he could not keep up. We spend a lot of time and money to get the best from the therapy so that he can have a good headstart. It was a very tough journey with fears, tears and hard work. I was initially living in denial and I was not very prepared to accept the difficulties that he faced. However, with the support from my husband and my family, everyone showered him with love and care, he flourished. He is in upper primary now. He plays Badminton and Basketball. He goes for review every year with cardiac and genetic doc at KKH. He still struggles a lot in his studies. His teachers are aware of his heart and development problem but all are supportive and willing to help. At the end of the road, I have learnt that a child can only flourish as much as the effort and love u put in. U cherish his milestones rather than comparing him with normal kids. Most important, pick up your strength as fast u could, accept they are special and early intervention is the most crucial step to get them the head start that they need!
Don’t give up hope.