Trisomy scare

The consultant explained to me that when there are two or more problems of a certain type detected in the womb, it shows there is possibly a far more serious problem going on that ultrasounds alone cannot confirm.  He told me that these two things - a cleft and a PUJ are 'markers' for chromosome disorders.  When he told me this, the first thing I thought was "Oh god, Down's syndrome".  Yes, possibly.  But possibly even worse than that.

A chromosome disorder is most likely (Apart from the 22nd deletion - more on that later) a triplication of chromosomes.  We all have 23 chromosomes, made of pairs, one from the mother, one from the father, so we have 46 all together.  Genes are stored on the chromies and they tell the body how to grow and what to grow into.  In fact, they tell the body everything, they are the plans for life.  When I heard "Chromosome disorder", I thought "Down's" right?  That syndrome is caused by the 21st chromosome having three parts instead of two.  A triplication, or trisomy.  Down's is known as Trisomy 21.

There are trisomies for every chromosome of course, but the most common ones are 21,18 and 13.  A child will live and grow with 21, albeit being a little 'behind' other people in their age group, and will probably die young.  Not a great outlook, but certainly not the worst.

Trisomy 13 and 18 are very often killers.  A baby born with either of these disorders will more than likely have a short life, or a very unpleasant one.  Life expectancy for a baby with either trisomy is not very long.  80-90% will die while still an infant.  While a baby is in the womb, the mother will keep it alive, but once born, he/she will have to fend for itself.  They can't do that.  they have been documented as "Incompatible with life".  As parents, you can look forward to holding your baby, but for how long you can see the child grow is anybody's guess.  Not a good outlook is it?

However, it is possible for Children to survive and grow with these disorders, but life for them will not be pleasant.  A large percentage of Trisomy 13 and 18 babies have cleft lips, just like our baby has.

Then there's mosaic trisomies.  This is where not all of the affected chromosomes are triplicated, just a percentage of them.  This percentage can vary of course, so the severity of the disorder will reflect the percentage of affected cells.  Children with mosaic trisomies will have physical and/or mental disabilities, and will probably have to undergo many surgeries to correct structural problems.

I needed to know if my baby was going to be born with a trisomy.  The trouble was, my girlfriend didn't feel like talking about it.  I think she was scared by the implications and chose to bury her head in the sand - ignore it and it will go away.  Maybe it did for her, but it was an absolutely terrible time for me.  I did some research on the internet and found out a lot of the information I wrote on this very page.

For two weeks (it felt like two years) I was wondering if my baby had a chromosome disorder, and the fact that my girlfriend didn't want to talk about it made it even harder.  I needed to talk about it, I was getting depressed, couldn't sleep, couldn't work, couldn't think.  I was losing interest in everything.  It was the 'not knowing'.  It looked like I was going to have to wait until the end of the pregnancy to find out.  This would have been about another three months.  I couldn't stand that.

During this period, we were visited by two ladies from the cleft lip and palate team.  They came to talk to us about how to cope with a baby that has a cleft, special feeding needs, sleeping positions, likely dates for surgery and the order things will be done.  I couldn't help thinking "It's probably going to die anyway, why do we need to know this?".

The sonalogist had obviously highlighted the possibility of a chromosome disorder in the baby's file, and an appointment was made for us to see geneticists at the hospital.  To be honest, they didn't tell me anything I hadn't already discovered for myself.  In fact, they were very impressed with the information I had educated myself with.  When we went in there, I think they were expecting us to be just worried about Down's syndrome, but I already knew about the others.  Reading between the lines, they were telling us that it's very important that we have an amniocentesis test done to find out if the chromies are ok.  I understand the legal and moral position, they can't tell us direct "Have the test!", we have to decide for ourselves.  I took the opportunity to mention that my girlfriend is not keen on having it done.  They made it clear to her (without pushing too hard, but as hard as they were allowed) that it would be a good idea.  When we left the meeting, she still hadn't decided to have one, but something somebody said must have made her think because when we got home she said "I think we should have that test".  I called the hospital and they couldn't get us back in fast enough.  We had the test on the 13th August and got the results on the 14th (My birthday).  The lady at the hospital rang me and wasted no time in telling me that there was no sign of trisomies 13,18 or 21.  Best birthday present ever.  I cried with relief.

She explained to me that this doesn't rule out altra-rare disorders.  There's millions of genes in a body, any one of them out of place can cause a problem of some kind.  Also, it would take a few more days to check for the 22nd deletion (22q11.2 deletion syndrome).  This is where chromosome 22 has some chunks missing.  If this happens, the baby will more than likely live, but can have a catalogue of heath problems, mental and physical.  Well, after a few days we got a letter saying that chromosome 22 was normal.  I didn't cry with relief this time, I knew... I just knew that baby Tyler had a cleft lip and maybe palate too, but I knew this was all that was wrong.