14 August 2016

Rumer's Story, part 20

Neonatal & Palliative Care meeting: II


Thursday 2nd July 2015
27 weeks pregnant


Keen to bring the discussion back to treatment options, Chris proceeded to describe our understanding of the pregnancy risks and how we wanted to mitigate them (eg. close monitoring, c-section). He wanted to show our thinking about how to manage the obstetric problems, since that was what we were most familiar with at this point, thinking that that would give Ida an idea of the general approach we wanted to take in order to set the tone for the discussion about postnatal management. He also wanted to illustrate that we were realistic about the high rates of stillbirth and neonatal death; that we were going into this with our eyes open.

1 August 2016

Rumer's Story, part 19

Neonatal & Palliative Care meeting: I


Thursday 2nd July 2015
27 weeks pregnant


So we got back to the now very busy Fetal Medicine Unit (FMU) waiting room around 12:20 and waited. And waited, and waited. At 1pm, half an hour after the appointment should have begun, we spotted the neonatal consultant, Ida Leigh, chatting to George Donnachie; he ushered her into his room in his usual charming manner. And we waited; we remarked to each other that had we known it would be this long, we'd have had some lunch – by this time we were very hungry after our early start.

26 July 2016

Non-Invasive Prenatal Testing



So you've had a previous pregnancy with trisomy 18, and you're pregnant again and considering testing options. Or maybe your baby has clinical features of trisomy 18 on ultrasound and you're wondering if you can avoid an amniocentesis by scheduling a non-invasive test. Or you've had a non-invasive test that came back as ‘positive’ for trisomy 18 and you want to know how accurate it is.

Either way, here is the low-down on non-invasive testing.

18 July 2016

Rumer's Story, part 18

Palliative care is not more important!


Wednesday 1st to Thursday 2nd July 2015
26 to 27 weeks pregnant


So on Wednesday, we were at home together for most of the day. We called the Fetal Medicine Unit (FMU) and left a message for Elysia Crouch, our link midwife there, to chase up the neonatology appointment. After the cardiology appointment the previous day, we were keen to get on with things and find out where we stood with the hospital. We knew that what we were considering – active treatment – was not the norm in the UK, and after some initial enquiries around the trisomy groups, we hadn't heard of any babies with trisomy 18 who had received it. So we were apprehensive about the appointment, and anticipated at least some initial scepticism.

14 July 2016

Rumer's Story, part 17

Cardiology appointment


Tuesday 30th June to Wednesday 1st July 2015
26 weeks pregnant


So on the Tuesday, we went to our second cardiology appointment. Recalling how Professor Marshall had been happy to consider surgical options even in the most dire of situations last time, we were hopeful that he would remain open to considering these and other relevant treatments. However, we also knew that offering active treatment for babies with trisomy 18 was not usual practice in the UK, and we weren't sure whether the diagnosis would change his approach.

8 July 2016

Read beyond the headlines!



Which of these statements about trisomy 18 are backed up by research?


Yes, I've given links to the research that apparently backs them up. However, when you read further into these studies, you realise that their conclusions are not in fact reliable.

27 June 2016

VIDEO: Neonatal ethics conference presentation



In June 2016, we were invited to take part in a neonatal ethics conference. We talked about Rumer and about some of the difficulties we faced, focussing on the antenatal interactions with neonatology. We gave summaries of the experiences of other families affected by trisomy 18 and drew out some suggestions for doctors and other health professionals about working with families, particularly where the doctors and parents disagree about the best way forward.

This is our presentation.

10 June 2016

On winning

Even if you do 'win', there are a lot of losses



I wrote this for another website. As far as I know, they haven't yet put it up, but it does reflect our feelings on our experiences and I wanted to share.

“While we do not all agree that this is the right course of action, as a consultant body on the neonatal unit, we have decided we can offer Rumer resuscitation as we would any other child.”

30 May 2016

The responsibilities of parents



Quite often when we asked for things like access to Rumer's notes, or to be involved in medical decisions, we were told, in order to explain why they had policies against these things, that:

  • "No other parents have ever requested this."
  • "You are exceptional parents. Other parents wouldn't understand the notes."
  • "Not all parents want to be involved in medical decisions; some parents want us to make the decisions."

22 May 2016

Palliative care vs active treatment

Stereotypes and Realities



Fundamentally, when you have a baby with T18, you are told you have two options to choose from* (of course, you may not in fact be offered one of these choices):
  • Palliative care (also referred to as 'comfort care')
  • Active treatment (also referred to as 'full treatment')

However, what you are told, or understand, about these choices is likely to be very different from the realities.

13 May 2016

Why I don't hate trisomy 18



A lot of people proclaim to hate trisomy 18. I understand why; they feel it took their babies from them. They see it as an enemy that stole their longed-for child and left them with pain and grief. I get that.

It's just not the way I feel.

9 May 2016

To a hospital somewhere in the UK



I wrote this letter when Rumer was 10 weeks old and in PICU, after an online friend shared her letter from a major UK hospital denying treatment for her unborn son with trisomy 18. I didn't plan to send it. The child was eventually given full treatment by another UK hospital. Names have been changed to protect the innocent (and not so innocent).

6 May 2016

Full, partial or mosaic?



Trisomy 18. What is it? Most people can grasp pretty quickly that it means that you have three copies of chromosome 18.

Most of us have 22 pairs of chromosomes, each pair numbered 1-22, and a pair of sex chromosomes (XX for a girl, XY for a boy). Babies with a trisomy have three of one of these chromosomes instead of the pair. Babies with trisomy 18 therefore have three copies of chromosome 18.

See this image for a picture of the chromosomes of a boy with T18.

3 May 2016

What do you call your doctors? Jane or Dr Smith?



This article from the BMJ was retweeted by a couple of our neonatal consultants: Is it Jane or Dr Smith?

While I admit to having limited interest in how junior doctors address their consultants (although I was always quite surprised when they referred to them as 'Dr X'), I am more interested in the confident statement that:
Evidence indicates that patients want to call their doctor by their professional title. This has obvious benefits in terms of keeping a professional distance and engendering both trust and confidence.

24 April 2016

How did it feel to be the parent of a baby with trisomy 18 on the neonatal unit?



I've been searching for an analogy for this for a while, you know the type: imagine you're abseiling off a tower and half of the instructors think it would be in your best interests to fall to your death, but you don't know which half; or, you have to negotiate an obstacle course in order to save your child's life, and along the way you'll meet people, some of whom will tell you the truth, some of whom will lie, and some will prevaricate, and you have to work out who is on your side in order to win.

20 April 2016

Comfort care or torture care?

When palliative care goes wrong



I admit that I don't think 'palliative care only' should be the routine way of managing all infants with trisomy 18. I think there are ethical questions to answer about this, especially when a child with T18 presents with few additional medical problems.

However, I accept that this may well be appropriate for some children with T18 who have complex presentations, and I feel that, as we don't have strong evidence for or against treatment for other children, in the end, parental choice should be deferred to, and some parents will opt for a palliative approach.

14 April 2016

Rumer's Story, part 16

Appointments again


Sunday 28th to Monday 29th June 2015
26 weeks pregnant


So on Sunday the 28th June, we met Chris's parents for lunch in Woodlands in Marylebone, a vegetarian Indian restaurant we'd frequented a number of times. We showed them the latest scan pictures and told them Rumer's name. I'd anticipated that most people would, at best, take time to get used to her name - after all, it was hardly in the top 100 - but everyone immediately proclaimed to love it. I still have no idea if they meant it or not. My parents, whom we'd told on the phone, also claimed they liked it.

11 April 2016

How to counsel parents: Part 1

A guide for consultant neonatologists



Dear Consultant Neonatologist,

Welcome to our blog! Every day we keep hearing more stories of parents having been given misinformation, half-truths and even lies by your colleagues. So we thought we should write a guide on how to counsel parents who have had a prenatal or postnatal diagnosis of trisomy 18 (or trisomy 13, or in fact any life limiting condition) and who plan to continue their pregnancy.

8 April 2016

Research Friday: Does intervention prolong life?

Kosho T & Carey J (2016)



For our third Research Friday post, we thought we'd look at a recent paper that addresses a question that many physicians and parents often ask, and over which even more frequently disagree: does medical intervention actually improve survival in children with trisomy 18 (or trisomy 13)?

7 April 2016

Rumer's Story, part 15

Not such a lethal diagnosis


Wednesday 24th to Saturday 27th June 2015
25 to 26 weeks pregnant


So we got on with our plans. We submitted an enquiry through the SOFT UK website. We ordered some tiny, tiny baby clothes online (from here and here), and Rumer's rainbow blanket.

A square blanket with wiggly horizontal lines in colours of the rainbow.
Rumer's rainbow blanket!
We thought this would service nicely as her burial shroud.

6 April 2016

The conspiracy theorists on the internet



Hey, have you heard the one about the father who resuscitated his own baby daughter at birth when the physicians who'd promised to do it decided not to?

How about the one where the baby self-extubated and the neonatologist didn't re-intubate, despite there being no parental consent to withdraw treatment?

5 April 2016

Rumer's Story, part 14

Getting organised!


Tuesday 23rd to Wednesday 24th June 2015
25 weeks pregnant


So we arrived back from Berlin with motivation and a better sense of how to move forward: making a stillbirth plan had clarified some of the things we needed to get on with. Our 'to do' list went:
  1. Practical arrangements for a home stillbirth
  2. Buy clothes and things for the baby
  3. Contact photography charities regarding photographs of the baby
  4. Discuss what family would want in the event of a stillbirth
  5. Explore the practicalities and legalities of home burial
  6. Look for a doula
  7. Prepare a birth bag

4 April 2016

Kicks count! For trisomy babies too



Most of us who become pregnant in the UK will have heard of the charity Kicks Count, which works to raise awareness of stillbirth and to encourage mothers to monitor their baby's movements and to seek help if there are any concerns. If you haven't heard of them, I encourage you to check them out.

Today's article, however, is about how we can use movement monitoring to reduce the risk of stillbirth in trisomy 18. Very often on trisomy groups, I hear mothers remark that their baby is moving less today, and the next we hear, they've had a stillbirth. This is often because of the extra difficulties in monitoring movement in trisomy 18:

1 April 2016

Research Friday: A life worth giving?

Withdrawal of treatment from disabled newborn infants
Wilkinson D (2011)



Welcome to our second '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 wanted to look at a piece that I came across, about the circumstances under which it is permissible to withhold or withdraw treatment from a newborn baby with a disability.

31 March 2016

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.

30 March 2016

'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.

29 March 2016

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.

28 March 2016

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.

25 March 2016

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.

24 March 2016

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.

23 March 2016

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.

22 March 2016

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.

21 March 2016

Keeping it Simple - Caesarean section or vaginal birth?

Which is best for a baby with trisomy 18?




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 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.

19 March 2016

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.

17 March 2016

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.

16 March 2016

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.

15 March 2016

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.

14 March 2016

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.

13 March 2016

Keeping it Simple - Survival in trisomy 18




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




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?"

12 March 2016

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.

11 March 2016

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:

10 March 2016

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.

9 March 2016

Keeping it Simple - Amniocentesis: Yes or No?




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?




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.

8 March 2016

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.

7 March 2016

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.

6 March 2016

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.

5 March 2016

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.

4 March 2016

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.

2 March 2016

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.

1 March 2016

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.

7 February 2016

Rumer's Story, part 1

Some early niggles


January to March 2015
Conception to 12 weeks pregnant


After a fairly long time of on-and-off trying to conceive and a very early miscarriage in September 2014, you can imagine how pleased we were on the 29th January 2015 to see this...