More To Come To Terms With: 13th December 2013

reasonThen just as we were beginning to come to terms with losing Frankie a tiny bit, we had yet more news from some past test results and Frankie’s partial post-mortem which knocked us for six 😦

I wrote on this blog about the amniocentesis test I had on October 28th. I didn’t have one at the usual time of 12-15 weeks of my pregnancy with Frankie as my Downs screening results came back 1 in 100,000 (no further testing recommended) so even my midwife said that on that basis she wouldn’t recommend it as there is a risk of miscarriage with the test, and as I’d had six miscarriages in the past and it was the furthest I’d gone being pregnant, my husband and I decided against it.

However on October 28th as I’ve also written on here I was told Frankie had a nuchal odema measurement of 8.2mm, and for that stage in my pregnancy it should have been 5mm or less, so I had the test as they said that together with the cleft lip/palate and the fact that he had talipes (a club foot) on his right foot, it might indicate a chromosomal problem.

A few days after having the test I got a call to say that the first stage test results came back and he didn’t have Downs, Edwards, Pataus or Turners syndrome, and that Birmingham were transferring me back to Worcester as the second stage amnio test results are always usually fine when the first stage comes back OK.

We were told that in fact a problem had been detected in the second stage results of the amnio test, but that it took a long time for them to get definite results because it was such a rare abnormality and they wanted to be absolutely sure, and by the time they ran all the tests in the laboratory and had a couple of second opinions Frankie had already died and was born.

But there was in fact a problem that had been detected in the second stage results from my amniocentisis test, and it turns out that Frankie had two copies of chromosome number 15, meaning that he would have been born severely mentally and physically handicapped. He would have had seizures and probably not lived very long if at all after he was born.  This chromosome abnormality is so rare it is just called “chromosome 15 duplication syndrome”, it doesn’t even have an actual name and the severity of the mental and physical handicap he would have been born with would have been immense. The reason they looked at chromosome 15 in particular is that cleft lip/palate problems can sometimes be linked to problems with chromosome 15, so with the duplication in that chromosome, they were able to explain the cleft lip and palate he had and the club foot.

When I had the amnio test on October 28th, my husband and I voluntarily entered into a genetics study called EACH by having some blood tests. From the blood samples they took from us they were able to determine whether Frankie had developed this chromosome abnormality as a “de novo” or isolated thing, or whether my husband or I had passed it on to him. The killer thing is they determined from my blood sample that I was the one who had passed it on to him. So while my husband and I both have completely normal chromosomes, I am a carrier of the duplication of chromosome 15 and I passed it on to him.

This is so hard to accept, as chances are it may be the reason why I had so many miscarriages in the past when they thought it was linked to my ex husband, and god knows what it means for any future pregnancies for me. My husband and I did some research on this chromosome 15 duplication syndrome and there is nothing from the UK hardly at all, but we found a couple of sites from the states and when I read about some of the things that he would have been born with, my heart broke all over again.  The other thing that I’m trying to get my head round is that we were told this is the first time in the UK that chromosome 15 duplication syndrome has been diagnosed from an amnio test and pre-birth. Usually babies with the condition are born and it isn’t diagnosed until at least 2-5 years of age, when the children affected by it don’t hit their milestones. At first it just looks like children with it are a bit slower to hit their milestones but as they get older the severity of the problems surface, and by then the parents have a severely disabled child to look after and it is too late.  We could have been in that position.

I struggled so much with this as I keep thinking that I gave my son a death sentence but I had no idea about any of it and I am petrified about having another child or trying again as I don’t want to pass this on. Frankie was probably already starting to show signs of the condition, he was a very big baby for 32 weeks when he was born which is a sign of the duplication, as babies born with this are usually very big at around 10lbs plus.
We are going to have genetic counselling and further tests in the new year, but it has been so hard to come to terms with and take in, even now I don’t fully understand it or understand why I am a carrier, or what the chances of it happening again are.  I did everything I possibly could to ensure I was healthy and in the best shape possible for having Frankie, and I had a textbook pregnancy with no sickness and I felt really well being pregnant.  The mothers of children born with chromosome 15 duplication syndrome all had one thing in common – their pregnancies were exactly the same as mine in terms of how they felt being pregnant.

My community midwife said when she found out about this that it would not have been a good outcome for Frankie, and that the chromosome 15 duplication syndrome was “incompatible with life” and the chances are he wouldn’t have lived very long.  If he had lived his quality of life would have been zero, and we would have had to look after him every second of every day and worry non-stop about him having seizures.  Many children born with this condition simply have a massive seizure and then die.   While I have been able to talk openly about everything else that has happened to me, I haven’t been able to talk about or fully accept this.  I have many more questions than I have answers, and I really hope that I can get some more answers when we have further genetic testing and counselling next year at Birmingham Women’s Hospital.

Part of me started to think that God had a plan for Frankie and for us after all.

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