Storylines

I know it has been a long time.
I just don't know what to write anymore.
Life seems to have just taken over.

Watching ER for the first time in ages.
What are the chances of a Trisomy 18 storyline?
Well, look at that.
6yr old with T18.
"Historic case".

What would have happened if Caden lived?

Would it have been better?

Or worse?

Time Traveller

I so wish that I could go back in time.

Strangely, not back to when I was pregnant, as so many, I'm sure would. But there is no way to change the outcome, our dear baby was never meant for this world.

No, what I want to do is go back to the days and weeks following his death. I know I was in a sort of shock, but I was okay to be there. Sleeping together in the family room. Never really leaving that mattress on the floor for a full two weeks. Just lying, in each others arms, watching tv and tuning the rest of the world out.

If I wanted to cry, I cried.
If I wanted to scream, I screamed.
If something was funny, I laughed.

I didn't have to worry about being judged, because no-one was there (no-one but my SIL who silently left the room if I started to sob, leaving me in peace to grieve as loudly as I wanted).

I didn't need to hide my broken heart so that people would stop asking if I was ok.

It was just us, no responsibilities, no contact with the outside world.

It is possibly the freest I have ever felt in my life. I was given permission - nay I was expected to grieve. I was expected to fall apart and be a big mess.

Now - not so much.
I think people expect me to be over it.

falling apart (literally)

my hair is falling out.
it's incredibly frustrating, and embarrassing actually. I literally leave a trail behind me. ugh. It's not the first time, my hair has done this more than once in my lifetime, I think in times of stress. I'm feeling the stress at the moment. Not stress over Caden though. I feel further away from him than I ever have before. I feel quite "normal". It's strange and I'm not sure how I feel about it yet.


randomness:
Somthing I meant to write ages ago : We saw a friend who lives interstate. She wanted to come out for Caden's memorial but wasn't able to. We saw her for the first time recently. She wanted to see Caden's photos, so I pulled them out. I commented on the fact that I wish they had had a little hat for him to wear, because of the fact that his fontanelle (his soft spot) was big (happens in Trisomy 18 babies) and had sunk in a little. It really bothers me sometimes.
Kate's comment?
"Oh but it's okay, it's not bad...it's him"
She's right. I loved her in that moment. There is nothing wrong with it. It's how he looked, so why cover it up? It's part of who he is.

I've started going to my acupuncturist again. I cried when I told her about Caden. I had another session today. It was nice. I just love the feeling I get from it. C. is magic.

quiet times
I have been overly quiet online for weeks now. I often WANT to write posts, but I am working a lot lately and have had a LOT of work stress (G, I totally sympathise with your work issues as I am going through something similar) I used to write entries at work, but I cant do that anymore, and when I get home from work I am just exhausted.

I swear I am falling apart.

Physically I mean.

Between my teeth, and my hair falling out, and my eyes...

What, I didn't tell you about my eyes?
About how I am pretty much slowly going blind?
About how I've now been told that I may be too far gone for any kind of laser surgery?
*sigh*

I need to sit, and think for a few hours. And try to process some of the things I am feeling. I believe I am repressing. Could blow up if left unattended.

so where do we go from here?

So what does this mean for me now?

Dr P told me of another patient who had a recurring disjunction problem. She had a trisomy 18 baby, a trisomy 13 baby, a trisomy 21 baby and two miscarriages.

I simply cannot face something like that. Because of my own personal belief that all life is sacred, I could never terminate a pregnancy. Not only that, but I personally am friends with 3 adults whose parents would have been offered a medical termination. I personally cannot imagine the world without them. I also am friends with someone whose baby faced a 0.01% chance of survival – she chose to continue the pregnancy and her child is still here (please do note that I am not against abortion. I am pro-choice. But my own personal belief is that it’s not an option for me).

So I have decided that Caden will be the last of my biological children.

In one sense I am lucky, in that biology has never meant a great deal to me. My mother's biological family disowned us when she divorced my father (still the best move she ever made) and she created her own family. Her best friend became like her sister, her best friends mother is the only grandma I have ever known and I love her dearly.

I can but assume most of my astute readers have picked up on the fact that I am also a lesbian, and my partner had no biological link to Caden. She unequivocably is his mother. She said the second she saw him any worries she had over whether he would feel like hers disappeared. The second she saw him, she knew he was hers, no questions asked.

So knowing that I will not give birth to another biological child, while there is some feeling of loss, does not leave us without options. Dr P suggested PGD - which is a technique used during IVF, where they allow an embryo to grow to blastocyst stage and then extract a few cells to test for chromosomal abnormalities. However, it is only 80-90% effective, and they still recommend all the screening tests to be sure. Add to that the fact that it is a new technology, and there are no long term studies on how it might affect the child’s development. Plus hey, we have another option.

The final option, the one that makes the most sense to both of us, is to do IVF with Kim as my egg donor. The act of carrying the baby and giving birth to it will give me a connection just as great as a biological link. Kim will also have that link through biology. We have spoken to both our families, who were not 100% receptive to the idea of us haing children in the first place, and they are all on board with this plan. My mother (herself an IVF veteran) said to me “look at it this way. If you were in a heterosexual relationship, and there was male factor infertility and you had to use a sperm donor, only one of you would have a biological link. Or if there was this problem with you, and you needed an egg donor, only one of you would have a link. This is no different!”

Uhh, I didn’t actually need reassurance, I love the idea of carrying my partner’s child, but thanks!

So now we start with the probably very long process of counseling, medical tests and eventually IVF. So there is at least a light at the end of this very, very long tunnel.

not exactly what we were hoping for

***warning - this is long***

abbreviated version =
Caden was confirmed to have Trisomy 18
His chromosomes actually were 48 xxy meaning a double aneuploidy
I most likely will not have any more biological children

long version =
The day I had been waiting impatiently for over the past month finally arrived and I was so incredibly nervous the entire day. I had been counting down literally the hours and minutes until I could get some answers. But I felt ill with anticipation. On one hand I was desperate to know the answers and at the same time I was dreading what I would hear. I had many thoughts during the morning and I wish I had thought to write them down because I remember nothing of that morning.

We arrived at the hospital just in time for our appointment and Dr P was waiting for us (The head of obstetrics at the major hospital in our city). We waited a few minutes while he paged Dr JT (the doctor who informed me of Caden's death and performed the ultrasounds that day).

Dr P started off by saying "There are four things we look at in this appointment."
(1) What happened to the baby
(2) Was it preventable
(3) What are the implications for the future
(4) How will we manage the next pregnancy

He started by looking at the pathology reports and saying "the baby was very small (duh) and so was the placenta." He started talking about nutritional issues (as in the placenta was too small and therefore the baby was IUGR)

I don’t remember all that much of this part of the appointment as I started getting really agitated and had a mild anxiety attack, feeling like I was going to throw up. JT left to get me a glass of water. I started freaking out internally, thinking he was trying to tell me that Caden had died because of IUGR. If this had been the case I would have been virtually homocidal as I had tried to get the attention of all of my caregivers to pay more attention to the risk of IUGR and they did nothing. I really don't remember all that much and I wish I had the forethought to take my digital recorder to record the conversation. It felt like he was talking for at least half an hour, but looking back it may have only been 5 or so minutes. Kim has no real recollection of this time either.

Eventually JT mentioned something about markers and I started to feel a little relief. Dr P pulled up the chromosome reports and said "Oh it does look like your baby never had a chance, he had a chromosome problem" and I said "Trisomy 18".

He looked a little taken aback, and I for the first time felt true relief and smiled. I said "I knew it, in the back of my mind, since his 20 week scan."
"Why was that?"
"First because of the choroid plexus cyst in his brain, also I saw his size, and the fact that he had clenched fists - which he was also born with"

I brought up the fact that I had a 'negative' result for T18 on the nuchal translucency and blood tests, and he commented that actually, my HCG levels were actually quite low (indicating a problem) and that my risk of T18 at 1:1655 was not really a negative result as normally at my age they would expect over 1:30,000. This was a huge eye opener as I kept being told my risk was low, which is what had made me doubt my own self diagnosis of T18.

He then gave a quick run down of how the Trisomy occurred – all of which I knew. He asked what I was studying at university, thinking I was doing medicine or nursing. I laughed and said “actually I’m studying architecture and digital media.” I totally respected him for not dumbing down his answers to me.

As he was running through the brief introduction of the meiosis process (which I am well familiar with, having tutored high school biology for a few years) he looked at the report on the computer and seemed surprised. He informed me that Caden’s chromosomes actually measured 48xxy, meaning a double aneuploidy.

A ‘normal’ person has 46 chromosomes. A person with a Trisomy has 47 chromosomes. Where you normally have 2 of each chromosome, a Trisomy baby has 3 of one chromosome. Caden therefore had TWO anomalies, both Trisomy 18 and the sex chromosomes. From what I can gather from articles in medical journals, this is a very rare occurrence. So the final dignosis is Trisomy 18 and Klinefelter syndrome.

Answer to number (2) is that no, it wasn’t preventable. Dear Caden never stood a chance. However. Dr P did go on to say a few times that it is absolutely appalling that a 1500g baby made it to 37 weeks with no care provider picking it up, and he apologized for this. I told him about the awful ‘care’ I got from the doctor I was seeing at the other hospital. He knew her name, and I’m hoping that she will get some kind of reprimand for her behaviour (but somehow I doubt it).

(3) the implications for the future are kind of unclear. If Caden was a ‘simple’ trisomy, my risk would have increased to about 1%. Still sounds ok, right? Well if you consider the ‘normal’ risk is about 0.000003% it looks a little different doesn’t it.

Of course, this is not the only problem. The fact that he had a double aneuploidy signifies a more significant segregation defect in the meiosis process.

The problem is a maternal issue. This issue lies in my eggs. There is no way to test whether this will reoccur, as they would have to test every egg which is, of course, impossible, especially as we know, because there is no telling which egg will be released when I ovulate.

Dr P says the only thing to do is try again, and basically hope for the best.

(4) they will manage me very differently next time. I will be classified as high risk. They will do the same screening tests as they did this time, but will pay far closer attention to the results. I will be offered invasive tests, but Dr P does not suggest the amnio/CVS if I would not terminate, as they carry a risk of miscarriage. He would do them though, if I wanted.

I will see them more frequently, and their main aim will apparently be reassurance. Basically, if it makes me feel better they will do an ultrasound every two weeks at each appointment to make sure everything is okay. They also prefer to induce labour as early as possible. I will probably be induced around 38 weeks.

stay tuned: tomorrow = so where do we go from here?

mother's instinct...trust it

Big news...I was right.

Got all of the results of Caden's autopsy this afternoon, and to cut a long story short, he did have Trisomy 18, a lethal chromosome defect. It is amazing he lived as long as he did and he passed in the most peaceful way possible. I feel such relief it is hard to put it into words.

I will write a full entry with all the details tomorrow, tonight I am emotionally exhausted.

an epiphany

I THINK I KNOW WHAT WAS WRONG WITH CADEN!!!!!!
It was my first thought. Trisomy 18. It all fits. Clenched fists with a characteristic 'point' of the index fingers, tiny size (3 pounds at 37 weeks), too much amniotic fluid, under developed fingernails, kidney problems, strawberry shaped head, wide fontanel, low malformed ears, fluid on his kidney and in his lungs, and the choroid plexus cyst that isn’t a problem on its own, but in combination with everything else is a marker. I knew it! I first researched it after our 20 week ultrasound showed the cyst in his brain. I disregarded it because he had no heart problems...but something made it stick in my mind. I knew it! (we dont get the results from the autopsy and tests until 10th april, this is just my own research and opinion)

Since I worked this out yesterday I have felt a new peace. I read a few stories of parents who had Trisomy 18 babies. It sounds like me. One was saying how she didn’t feel hiccups and kicks like with her other pregnancies. How the baby’s movements were slight and faint. Something like 95% are miscarried and of the ones who survive, less than 10% of those make it to one year. Very, very few survive their childhood and if they do they have severe mental and physical problems. It is called “incompatible with life”.

Once I worked it out I felt such peace. I got up, actually put in my contact lenses for the first time in a week and a half, had a shower and got dressed. I’ve worn the same thing every day (when I’ve actually got out of my pyjamas) but I wore something different. I tidied up a little and actually put away the single bed I’ve been laying around on in the lounge room. Then I went and got Rory from After School Care. When I picked Kim up from the train station I excitedly told her about the Trisomy 18.

Sounds stupid to be excited but we both are. It means that with proper genetic tests we can prevent this ever happening again. It is rarely genetic, usually a fluke. Even if it is hereditary there is only a 25% chance of having a Trisomy baby again…meaning 75% of any of our embryos will be acceptable and pass the pre-implantation genetic testing.

When we got home I showed Kim the webpages I had found. Reading more and more of the ‘symptoms’ of Trisomy 18 it all makes sense to us. I actually think I will be disappointed if its NOT the answer we get.
If it was Trisomy 18 he never would have lived. And we had the best possible outcome. Had we been told at 18 weeks I would have had to choose to either terminate and deliver the baby, or carry him to term, knowing he would die shortly before or after birth. I would not have enjoyed the months of pregnancy. And I would not have terminated on the slight chance he might be okay. So in the end, he passed peacefully in the safest warmest place, we never had to make a choice and we got to enjoy every minute we had with him.