Rumer's Story, part 13

Berlin and a name!

Friday 19th to Tuesday 23rd June 2015
25 weeks pregnant

So we arrived at the hotel and checked in. We'd chosen the hotel because it had a vegan breakfast and a vegetarian restaurant attached (we always plan around the food) but it was a way out of town and not the most convenient. We ate that first night in the restaurant attached to the hotel - Bistro Bardot - and went to bed, not before checking in on the baby with the sonicaid. We knew she was a girl now, but we'd not yet named her. Our foray into the name books on our journey had got us to the letter B in name book number one.

'Slow code': Trisomy 18 in the UK

The US folk call it 'slow code'; we don't have a phrase for it in the UK, but we probably should. I might suggest that 'negligence', 'substandard care', 'lying' and 'collusion' are not too strong for this practice, which is widespread in the UK for children with trisomy 18.

Rumer's Story, part 12

To Berlin via Amsterdam

Thursday 18th to Friday 19th June 2015
25 weeks pregnant

So we were off! We had deliberately chosen (when we'd booked this trip to Berlin) to travel by train and boat. We both love long train journeys and ferries: they remind us of childhood trips, so we'd made that choice. Sadly it was neither a cheaper nor a quicker choice, so we'd decided to fly back.

NICU Basics: Respiratory support

I thought we'd write a series of posts on 'NICU Basics', as there are so many medical terms and procedures to get to grips with. Often, whether you're having antenatal discussions or are actually in the NICU, you wonder what on earth they're talking about. Occasionally you might feel they're taking advantage of your lack of knowledge to fob you off or to fail to provide your child with appropriate care. So, in this post, we'll talk about the types of respiratory support that are available and what they do.

Research Friday: Saving Babies' Lives

NHS England (2016)

Welcome to our first 'Research Friday' post, where we look at, comment on, critique and generally tear to pieces research or guidelines that relate directly or loosely to trisomy 18. Please add your comments!

This week, I thought we'd look at the new NHS England guidelines on Saving Babies' Lives, partly because it just came out in its final version this week, partly because we ourselves used the draft version of the guidance to argue for frequent scans when we knew that I had low PAPP-A - and therefore I'm interested in what they come up with - and partly because guidelines on reducing stillbirths are rather relevant to the trisomy community (with its very high risk of stillbirth) even when they are not T18-specific guidelines.

Rumer's Story, part 11

Start of our new life

Thursday 18th June 2015
25 weeks pregnant

On Thursday, we got a taster of the life that was in store for us. Of exactly how busy our life was about to become.

We had decided to go to Berlin via ferry and train rather than flying, so we were taking the train to Harwich from Liverpool Street that evening, then the night ferry to Hook of Holland, and in the morning, the train to Berlin via Amsterdam. I think that when we made the bookings we'd imagined a slow Thursday, but of course it had now filled up with appointments.

Palliative care: calling a spade a spade

It's okay to choose palliative care. There, I've said it. It is okay to choose not to pursue full interventions for your child with trisomy. It's okay to have limits. Your limits may not be my limits; I even think there are ethical questions about failing to offer some interventions, but I also think that parents generally should have the right to act in whatever they perceive to be their child's best interests, and when there are no clear-cut, evidence-based answers as to what is in a child's best interests, I think parental choice should be deferred to. So it is okay to choose palliative care.

Rumer's Story, part 10

Moving on from diagnosis

Wednesday 10th to Wednesday 17th June 2015
23 to 24 weeks pregnant

So we went home and started to make some decisions. We had to decide who we wanted to see, what we wanted. We knew nothing about trisomy 18. It is interesting looking back at what we wrote then. Chris wrote a Facebook post which stated that trisomy 18 is fatal, and I started a Mumsnet thread calling it a 'lethal diagnosis'.

We made a list of people we wanted to see and emailed it to Elysia Crouch.

Keeping it Simple - Caesarean section or vaginal birth?

Which is best for a baby with trisomy 18?

This is the Keeping it Simple summary - read the detailed version here.

This question comes up all the time on trisomy groups. It came up for us. Our initial plans were to have a caesarean section, but we eventually decided to opt for vaginal birth after a lot of discussion with different professionals and taking all our circumstances into account. What I would say is that there is no clear-cut answer as to which is the best option for a baby with trisomy 18.

Caesarean section or vaginal birth?

Which is best for a baby with trisomy 18?

This is the detailed version - read the Keeping it Simple summary here.

This question comes up all the time on trisomy groups. It came up for us. Our initial plans were to have a caesarean section, but we eventually decided to opt for vaginal birth after a lot of discussion with different professionals and taking all our circumstances into account. What I would say is that there is no clear-cut answer as to which is the best option for a baby with trisomy 18.

When physicians say "No"

Your next steps

This post is for parents who find themselves in the situation of being told that treatment will not be offered to their child even though they think that treatment is in their child's best interests.

This is likely to be the experience of most families who want invasive treatments for a child with trisomy 18 in the UK.

Nobody dies of trisomy 18...

When we first got the diagnosis of trisomy 18, and truly believed the predominant mythology that children with trisomy 18 are 'incompatible with life', Chris asked the fetal medicine consultant, "What do babies with trisomy 18 die of?" He got the answer that we would come to find everyone give: a shrug of the shoulders, a change of the subject, a "Well...trisomy 18," in a doubtful voice.

Rumer's Story, part 9

Trisomy 18!

Monday 8th to Wednesday 10th June 2015
23 weeks pregnant

We kept waiting for the phone to ring. I expected it to ring on Tuesday, but it never did. I've since learned that positive results take longer, as they double-check. I think I kind of knew anyway, but I hoped for T21, or some rare genetic condition that wasn't 'lethal'. However, everything I read kept leading me back to T18. I couldn't seem to escape it.

Will my next baby have trisomy 18?

Another one of those top 10 questions. Your baby has or had T18, you are fortunately pregnant again and you want to know what is the chance is that this new baby will have T18 or even another trisomy.

This is isn't a clear cut question. First of all it depends on what type of T18 your baby has/had. If it was partial T18, you and your partner should have been tested to see if you passed it on and if you did, you should have been counselled regarding the risk of T18 to future children. If your child had PT18 and you haven't been offered this, then ask for a referral to genetic counselling.

Rumer's Story, part 8

Genetics appointment, amnio and a wedding!

Wednesday 3rd to Sunday 7th June 2015
22 to 23 weeks pregnant

So we went to the Genetics appointment, which was on a different site to the maternity appointments. It was a much older building, and much quieter. It was an interesting place. We admired an art piece on the wall that used stripy socks to represent chromosomes. I still have an ambition to make one myself, but with three copies of chromosome 18.

Keeping it Simple - Survival in trisomy 18

This is the Keeping it Simple summary - read the detailed version here.

So here you are: your fetus or newborn has a diagnosis of trisomy 18 and you ask, "How long will she live?" Your doctor tells you that it's "rare to make it to birth, but if she does, a few days; some live a few weeks"; your googling tells you that 8% live until a year; and your new online friend from the Facebook trisomy group tells you, "Don't give up hope! My daughter's 14!" (or 18 or 25), and you have no idea what on earth to say when your friends ask, "How serious is it?"

Survival in trisomy 18

This is the detailed version - read the Keeping it Simple summary here.

So here you are: your fetus or newborn has a diagnosis of trisomy 18 and you ask, "How long will she live?" Your doctor tells you that it's "rare to make it to birth, but if she does, a few days; some live a few weeks"; your googling tells you that 8% live until a year; and your new online friend from the Facebook trisomy group tells you, "Don't give up hope! My daughter's 14!" (or 18 or 25), and you have no idea what on earth to say when your friends ask, "How serious is it?"

Rumer's Story, part 7

Considering amnio

Tuesday 26th May to Wednesday 3rd June 2015
21 to 22 weeks pregnant

So there we were, with bad news piled on top of us. I said at the time to my mother: "A baby with problems with its heart, lungs and brain - that can't be good." I'm not sure what our families thought; they had mixed reactions. I think some thought we should or would be ending the pregnancy. I don't know about the rest.

Active treatment or palliative care?

Choosing an approach in trisomy 18

When your baby is first diagnosed with trisomy 18, you may well ask, "What can be done?" And you may get an answer from the medical team of, "Nothing." If it is a postnatal diagnosis you may assume they will continue to offer basic medical care, such as feeding and breathing support. If it is an antenatal diagnosis you may be told your baby will be "incompatible with life", and "We will keep baby comfortable."

However, this is not your only option. Fundamentally, when your child is diagnosed with trisomy 18, you have two choices:

Rumer's Story, part 6

Echo & MRI results

Tuesday 26th May 2015
21 weeks pregnant

We were shown into the quiet room by Dr Cook, where we were joined by Evan Marshall and a cardiac liaison nurse who was introduced to us as June Winter.

Professor Marshall explained the scan findings: our baby had her heart shifted to the right side and rotated. Her left ventricle was around half the size of her right, whereas they should be roughly equal. She also had a narrowed aortic arch through which the blood flow was reversed, and she had two superior vena cavae ('bilateral SVCs'). All embryos start with two, but by this gestation you would expect one to have disappeared. He drew a lot of sketches.

Keeping it Simple - Amniocentesis: Yes or No?

This is the Keeping it Simple summary - read the detailed version here.

So here you are: maybe you have a 'high risk' result from a combined screening test for T18; maybe you've just had your 20-week scan and they've picked up a bunch of anomalies that they suggest mean T18; maybe you've got a positive result from a Harmony or similar non invasive fetal screening test for T18. Either way you are being offered amniocentesis to confirm the diagnosis and you're not sure whether to have it.

Amniocentesis: Yes or No?

This is the detailed version - read the Keeping it Simple summary here.

So here you are: maybe you have a 'high risk' result from a combined screening test for T18; maybe you've just had your 20-week scan and they've picked up a bunch of anomalies that they suggest mean T18; maybe you've got a positive result from a Harmony or similar non invasive fetal screening test for T18. Either way you are being offered amniocentesis to confirm the diagnosis and you're not sure whether to have it.

Rumer's Story, part 5

MRI scan and echocardiogram

Friday 22nd to Tuesday 26th May 2015
21 weeks pregnant

We spent the weekend googling information on Congenital Diaphragmatic Hernia (CDH) and calling family to update them. We were both worried and surprisingly normal. I remember reading all the survivors' stories on the CDH website and then braving reading the stories of the non-survivors and crying. It was a long bank holiday weekend.

The "professionals' meeting"

Creating a consistent message or colluding against parents?

This had a slightly less provocative title when I first wrote it. I was going to call it The professionals' meeting: ensuring consistency or a barrier to collaborative working with parents? but actually I think the current title more accurately reflects my feelings.

Professionals' meetings. Those of us who are "difficult parents", who have children with complex medical issues and who are asking for treatment outside the norm, will probably experience at least one professionals' meeting about our child and their care. We may or may not know about it (and that is an issue in itself) but it will happen.

Rumer's Story, part 4

Anomaly scan (continued)

Thursday 21st May 2015
21 weeks pregnant

15 minutes later, George Donnachie invited us back in. We had both expected to go back into the office in which we'd met previously, so we were both surprised to be shown into a scan room and for me to be pointed towards the bed. It was clear that Dr Donnachie wished to perform another scan. There were several other people in the room. I don't remember us being introduced to them; maybe we were, maybe we weren't.

Maximising your baby's survival potential

Or: How to have more time with your baby

Babies with trisomy 18 don't live long, apparently. If you believe half the medical professionals, if you get a week you're doing well, and a month - well, be grateful. Those who live a year are anomalies and you'll be told to be 'realistic' if you mention them. They haven't heard that there are actually adults with trisomy 18 - tell them the oldest known survivor was 50 years old and you'll be called a liar.

Rumer's Story, part 3

Meeting the Fetal Medicine consultant & Anomaly scan

Wednesday 29th April to Thursday 21st May 2015
17 to 21 weeks pregnant

On 29th April, we had our second midwife appointment, again at home. I had developed some pregnancy anxiety, had seen the GP and had started CBT that day through the local community service. I was impressed by how quick they'd been to see me. The anxiety had been very focused around things going wrong with the pregnancy and one of the things we worked on and I repeated to myself in sessions was 'most people have healthy babies'; it seems kind of ironic now, along with Mollie's assertion in the first appointment that everything would be fine. A friend had also told me not to worry because things would be fine. Perhaps it is wisest not to say that.

Rumer's Story, part 2

PAPP-A and meeting the obstetric consultant

Friday 20th March to Thursday 16th April 2015
12 to 16 weeks pregnant

We'd had our first midwife appointment at home just after our 11-week scan, on 20th March. It had been fairly standard, with no concerns. I'd asked about whooping cough vaccine and the midwife Mollie had promised me a leaflet. I'd also admitted to some anxiety about how things were going and Mollie assured us that 'everything would be okay'. After the nuchal scan showed the low PAPP-A, my anxiety had triggered me into frantic googling and I'd discovered that low PAPP-A (exactly what was considered to be low varied) was associated with poor fetal growth. I'd also been doing a course on customised growth charts at work which happened to mention that low PAPP-A was linked to a seven-fold increase in the risk of stillbirth.

What is trisomy 18?

I'm guessing that most people who read this will know this already, but we might as well start with an overview.

Trisomy: "an abnormality characterised by the presence of an additional chromosome to the normal diploid number". Chromosomes are the components of cells that carry the person's genes - often likened to striped socks, where a sock represents the chromosome and the stripes are the genes.