Complaint about Rumer’s care, part 4

Pregnancy 1 & Appendices 36

• PREGNANCY 1: Delays in care-planning

  • In summary
  • We would like
• APPENDIX 3: [George Donnachie] emailRequest to delay multidisciplinary meeting (03 Jul 2015)
• APPENDIX 4: Our emailProfessionals to see (11 Jun 2015)
• APPENDIX 5: [Ida Leigh] emailInitial neonatal care plan (14 Jul 2015)

  • Term birth
  • Preterm birth
  • Further action planned
• APPENDIX 6: [Khushi Holloway] emailProvisional obstetic/midwifery care plan (29 Jul 2015)

Concerns about the care of Rumer Gomez

Pregnancy 1: Delays in care-planning

Pregnancy

1.Delays in care-planning

This was a common theme throughout the antenatal period, in which we found significant difficulties in accessing some specialisms, notably NeonatologyNeonatologySee Neonatal Unit Who’s Who entry. Additionally, some professionals were keen to delay care-planning discussions until later in the pregnancy, despite this being against our clearly expressed wishes and having a potentially negative impact on Rumer’s care.

Non-Invasive Prenatal Testing

• What is Non-Invasive Prenatal Testing?
• What does NIPT screen for?
• If I get a positive result on a non-invasive test, does that mean my baby definitely has trisomy 18?
• If it is just a screening test, why am I paying £600 for it? Why not just have the normal NHS screening?
• Can a positive NIPT result be wrong?
• Can a negative NIPT result be wrong?
• My first baby had trisomy 18. Will the test detect my first baby's DNA in my blood, and does that make it more likely that I'll get a positive result?
• I'm having twins. Can I have NIPT?
• So I've decided to go ahead with NIPT, but Panorama, NIFTY, MaterniT21, Harmony... what's it all about?
• It is worth asking...

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.

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.

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 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.

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.

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.

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...