Rachael Ngan Jing Ni: DOB 04/10/2004
Unbalanced Chromosome Translocation
Karyotype : 46,XX,der(13)t(11;13)(q22;p12) resulting in partial Trisomy of the long arm of chromosome 11 from q22 to qter
Written by: Mummy Rae
Rachael was born with a chromosome disorder that was not detected during pregnancy, so it was a terrible shock for us when we knew she was sick upon her birth. In fact, it was so complicated, there was not a syndrome to it, it was just a string of karyotype. When she was born via an emergency c-section, Rachael needed help with her breathing due to her heart conditions so she was sent to NICU immediately, When I could finally get out of bed to visit her the next day, she looked so frail in her cot, far from the healthy, bouncy baby we had expected. Oxygen was pumped into this box covering her head. A tube was placed in her mouth to bring milk straight to her stomach. Wires were stuck onto her little body to monitor her heartbeat, oxygen level and respiration. The doctors said she would need several operations from what they could see. Just how many they weren’t sure. More tests would be needed to determine the nature and extent of her condition.
Rachael was first suspected to have Trisomy 13, due to her club feet, low set ears, heart problems and central cleft palate. The only information we had then was that Trisomy 13 usually results in stillborns, or they usually survive only 2weeks to 2months. When the test results came back, we had our diagnosis, but no prognosis. As Rachael struggled to breathe and to cling onto life, we held our breath each time we looked at her tiny body, going through so much pain and discomfort. How we wished we could take her place or do something, anything at all, to reduce her pain.
Rachael was, and still is, very strong willed. As she has fallots tetralogy (a set of 4 problems in her heart), the doctors were worried about her saturation and decided to give her oxygen via nose tubes. But my dear girl would have nothing of that sort. When they finally found the tiniest tube to fit her nose, she wailed out so loudly, you could hardly believe she has severe cardio problems. She went on to cry for another 4 hours, until I finally gave up, took off the tubes, and told the doctors I would be responsible should anything happen. To everyone’s amazement, she fell into a deep slumber (probably too tired from all that crying), and maintained her saturations at 85% and above, on room air, which was eventually accepted as her baseline. She hasn’t needed any oxygen since then.
As Rachael approached her 3rd week in hospital, we requested for home leave to celebrate her first month. To our pleasant surprise, we were told she could be discharged! I could not believe that just 3 days before, the doctors cancelled a life-saving operation on her, and now we could go home! Yeah! But the happiness was very short-lived. There were so many things we had to learn and prepare before we could convince the doctors that we could care for her at home, and it hit us hard then that it will be a rocky road.
From then, Rachael was in and out of hospital for different reasons and her operations got more and more dramatic. 45-min operation would extend into 3 hours. 3-hour operation extended into 6 hours! Something unexpected would happen every time. Most of the doctors already classified her as the “top tricky patient” in their discipline! At her “peak”, Rachael was seeing 11 doctors and 3 therapists and the schedule was killing me. I could no longer handle working full-time and caring for her, so I had to quit my job to take care of her myself together with a helper.
When Rachael celebrated her first birthday, we threw a little party for family and close friends, and it was very touching for everyone. Although she is a special child, she is very well-loved by our families and friends, and everyone is happy to see her come so far. After going through no less than 15 operations (a couple major, mostly minor), she was warded in the hospital less and less frequently, and I was able to discharge many doctors out of the initial 11 we were seeing. I never thought that I would ever be able to care for a sick person, let alone my own child, but I think I have proven many people, especially myself, wrong when I could manage her scary operation wounds (the stoma still gives me nightmares), her tantrums, her feedings, the hours of waiting outside the operating theatre, the many nights caring for her at the hospital, sleeping on cold hard chairs, and even quitting my job to care for her myself, while daddy went overseas for work. I have done many things beyond what I could ever imagined I was capable of. I even earned myself a “reputation” for telling irresponsible doctors off for not doing their jobs properly! But for the dedicated doctors, I thank them with deep gratitude, for they not only heal my child, they heal me too. The doctors knew that Daddy was working overseas most of the time, and always asked if I was coping well. And I know I could do all these because I had the strong support, help and love from our families and dear friends, and also the team at the hospital. I couldn’t have done it alone.
It was a huge struggle when we decided to send her for her long overdued open heart surgery when she was five years old. The surgery was another drama, as usual. Our surgery date was postponed three times, and once we were already on our way to the hospital! The operation also took twice as long as they expected as they discovered another problem just as they finished fixing her original problems. We waited outside the OT for eight long hours that felt like eternity! Her recovery was very slow, so she stayed in the ICU for 10 days, instead of the expected five days. When we finally left ICU, it was as if she knew she was on the road to recovery and she bounced back in double-quick time, and we were out of the hospital soon. She recovered fully from her operation and was back to her normal playful self, and seemed happier now that she is breathing better.
Rachael will be turning seven in October 2011, and every year, we do a little party for her to celebrate her victory. This year is especially special as we nearly lost her when she had her first, and very serious fit in April. It was so damaging that she was sent to ICU intubated as she was not breathing very well. After watching spending a few sleepless nights at the freezing ICU, nothing could describe our joy when she starting recovering, and showed no signs of regress despite the serious fit. That’s our warrior!
She is now in a stable condition, happily attending her special school twice a week, and we are just happy to stay away from the hospital as much as possible. Our favourite phrase when we see familiar nurses during our appointments is “Hey, long time no see!”. Those were the dark days when we just had to take a day, an hour at a time. Sometimes we wished something would take her away and she would stop suffering. But when we see her angelic face and her charming smile, we know that our lives would be so empty without her.
We’ve stopped asking ourselves those questions for which there are no answers. We just feel blessed each day that our Little Angel is still with us.