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.

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.

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.

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.

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.

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.

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.

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.

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.

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)?

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:

'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.

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.

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.

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.