Mosaic Trisomy 16
Date of Birth: 26th August 1999
When I discovered in March, 1999 that I was pregnant I was delighted, and all went well until I had a routine maternal blood screening test at 16 weeks. This showed that I had very high levels of HCG in the blood, and a 1 in 11 risk of Downs' Syndrome. An amniocentesis was carried out a week later, and the results showed that 52% of the cells in the amniotic fluid had an extra chromosome 16, with the remainder being normal.
My obstetrician was very sympathetic but said if the baby did indeed have trisomy 16 cells (as opposed to the condition being confined to the placenta) the outlook was extremely bleak. We could expect the baby to be mentally handicapped and have a wide range of physical problems, if it survived at all. Because of the rarity of the condition, I was referred to Guy's Hospital in London, one of the UK's leading centres for neonatal medicine. Although they had never dealt with anyone with the condition before, their prognosis was much the same as our local obstetrician's had been, and they advised us to consider a termination. Naturally, my husband Cyman and I were devastated. We had been trying for years to have a child (our older son was conceived by IVF) and this was a desperately wanted baby, but we were being advised that the chances of the baby having a good quality of life were extremely slim. The picture was complicated by the fact that ultrasound scans carried out at the time did not reveal any physical problems with the baby (although it was still very early days). How could I take the risk that I might be aborting a healthy baby? We told the doctors that we needed time to think.
Over the next few days I spent hours on the internet, trying to find any information at all on mosaic trisomy 16. Eventually, I managed to track down the DOC16 Foundation, and got in touch with Karen. Although she had no magic wand to wave, she was able to give me a more balanced view of the risks, and sent me all of the research material that was available. This was the first time that anyone had suggested to me that the outcome would not necessarily be all bad. After much heart-searching, we decided to continue the pregnancy, and that I would have scans every 2 weeks to see if any major anomalies in the baby's development could be seen. The obstetrician advised that if major structural problems were evident, then the pregnancy could be terminated at any time up to the 24th week of pregnancy.
In the end, all of my scans were fine until week 23, when a coarctation of the aorta was diagnosed. By this stage, however, I had seen the baby so clearly on so many different scans, that he (I could see he was a boy!) was now very definitely a little person. There was no longer any question of us ending the pregnancy, and we decided to carry on. It was actually a relief when we passed the 24th week, and the option to terminate was no longer there.
The next few weeks were a nightmare roller coaster of emotion. Every day we agonised over what the future might bring, although all looked well on the scans. Then unexpectedly, I went into premature labour on 24th August and our son, Cameron, was born 2 days later at 28 weeks gestation, weighing only 1lb 12oz. The birth itself was awful - Cameron had a prolapsed cord and so was delivered by emergency ceasarean section. At birth he was not breathing, and his heart had virtually stopped, but he was successfully revived and put on a ventilator, where he remained for about 2 weeks.
To say that the days and weeks following the birth were up and down would be an understatement! Immediately after Cameron was born, we were relieved to be told that the doctors could detect no structural abnormalities at all, except for the coarctation, which should be easily rectified by surgery. However, we were told 24 hours later that the traumatic birth had caused him to have a grade IV (the most severe category) brain hemorrage, and that there was a severe risk that this might cause cerebral palsy.
Over the next few months Cameron caught a series of infections ? 2 bouts of pneumonia, 3 bouts of sepsis, heart failure, RSV bronchiolitis, flu and septicaemia, most of which seem to be relatively common in premature babies. He would come out of hospital for periods of time, only to wind up straight back in intensive care whenever he got a cold or other minor infection, which would invariably turn into something worse.
The prolonged ventilation that Cameron needed during these periods of infection has scarred his lungs, and he consequently now has chronic lung disease of prematurity. This in turn has caused pulmonary hypertension which was causing him to have periods of life-threatening oxygen desaturations (his oxygen levels would plumment from 95% to less than 10% in a matter of less than a minute), and he needed aggressive resuscitation to revive him, many many times. Strangely enough, this is now being treated with Viagra (really!) which he takes 4 times a day, and which seems to have had the most marvellous effect on his health. Since starting the viagra, he has not needed any further hospital admissions, and is catching up fast on his development at home.
On many occasions we were told to expect the worst, but he pulled through all of the crises - one way or another he is very determined to be here!
Cameron is now almost 10 months old (corrected age 7 months). He is still very small - he weighs 12 and a half pounds and is 58 centimeters long. He was at home (in between frequent hospitalisations for infections!) on oxygen for the first few months, but came off the oxygen about 2 months ago (after the Viagra was started). We are told that his lungs will improve further as he grows, and this should resolve the pulmonary hypertension and heart failure. Certainly he has much more bounce and energy in him now than he had a few months ago. Cameron is only the second baby in the UK (and the 5th baby in the world) who has been put on Viagra, but the results are so promising that a proper trial of the drug for use in babies is now underway.
There is a suspicion that there is something not quite right with Cameron's optic nerves (the opthalmologist said they looked a bit unusual), although he can clearly see, and is very interested in playing with his toys (and watching the television!). His hearing is normal and he has no structural defects at all, other than the scarred lungs.
The coarctation that he was supposed to have seems to have disappeared, and a cardiac catheterisation has shown that his heart is essentially normal.
It is still too early to tell whether Cameron is going to have cerebral palsy - although his physiotherapist is now fairly sure that if he does, it will only be to a mild degree, as he is doing OK on his developmental milestones. He can roll over, laugh and is almost sitting up (he can manage it for about 10 seconds, before losing his balance). He probably doesn't have his head quite as well under control as an average 7 month old baby, but he is not far off, and it is hardly surprising that he is very slightly behind when you take into account the illnesses that he has had. The one remaining problem that we have is feeding ? although he used to be totally breast and bottle fed, Cameron now refuses to take anything by bottle at all and is being fed by NG tube. The jury is out on why this is - whether he does not like to feed, cannot feed, or is just plain lazy! Seeing as he has fed perfectly well in the past, it seems the last option is the most likely!
Despite all the ups and downs we have had, Cameron is an absolute joy. He is a wonderfully happy baby, and the first time he smiled at us (aged about 4 and a half months, or 8 weeks corrected age) made all we had been through worthwhile. He looks very much like his brother (who is fiercely protective of Cameron).
We still don't know for sure whether Cameron does have MT16. Blood tests have shown all normal chromosomes, but we know that the trisomic cells often don't show up in the blood. The doctors believe that maybe only the placenta was affected (but unfortunately it was destroyed before it could be tested) - maybe we will never know for sure.
It seems a bit ironic that the only significant problems that Cameron seems to have ended up with stem from prematurity and his traumatic birth, rather than from MT16. We don't really know what the future holds for Cameron, although we remain very optimistic that one day he will lead a fulfilling and independent life. Whatever the outcome, there is no doubt in our minds that we made the right decision in continuing the pregnancy, although I would never condemn anyone who chose differently.
UPDATE: OCTOBER 2001
Cameron is doing pretty well. He is now 2 and is still very small (about the size of an average one year old - 23lb and 31 inches tall).
Physically he is doing really well and he is running round and in to everything! His speech is rather delayed (he only says about a dozen words) but he seems to understand most of what you say to him. The big remaining problem is his continuing refusal to eat or drink - which means he is still tube fed.
The heart and lung problems seem to be behind us now.
Overall, he is doing great and is a lively and mischevious little boy!
UPDATE APRIL 2002
Since the last update Cameron has had a gastrostomy (feeding tube into his stomach), as he still isn't eating. Within a week of getting the NG tube out of his throat, he starting making great strides with his speech. He now has a vocabulary of about 200 words, and is pretty much picking up a new word every day, and is starting to put two words together. I don't know whether the timing was coincidental, but it is a big step forward anyway.
He still isn't eating and the doctors are sure this is because he has quite severe reflux, which hopefully he will grow out of. The ranitidine doesn't seem to help much (in fact I have a suspicion that it makes it worse!). But he has finally started drinking a little, which is another big step forwards! Feeding is really the only major issue that remains to be sorted out, as he is otherwise a typical (if rather small!) noisy two year old.
UPDATE MARCH 2004
Cameron is now four and a half years old. He is bright, chatty, cheeky and vey feisty. He attends a mainstream nursery and is due to start school in September, having passed his entry medical and developmental checks with no problem. He knows all of his alphabet and is just starting some basic reading and counting. He is now eating normally, and no longer requires tube feeding. He does, however, remain very small - he's only about 28lb and is still struggling to get on the growth charts at all for height and weight.
UPDATE April 2011
Cameron is now 11 years old. He is getting on well at school - no assistance needed at all - and has just passed his entrance exams for secondary school. He plays rugby and football and enjoys cross country running. He is perfectly fit and healthy in every way except for having one very slightly droopy eyelid (which can be easily corrected when he is older if he wants to bother) and he is still small for his age (but gradually catching up thanks to growth hormone injections). He is currently about 136 cm tall. I can finally say that all the worries over his health are a thing of the past, and we are now in a position that we never dreamed was possible in the dark days 11 years ago.