Keep Your Chin Up (3rd Ed): Everything You Never Knew You'd Need To Know About Pierre-Robin Sequence

By Jess Carey

Jess is a writer, public health worker, and mother to a little boy who was born with Pierre-Robin Sequence. Upon his diagnosis, Jess and her husband, like many other parents, turned to the internet to search for answers. The information they found was largely outdated and based on worst-case scenarios, which only frightened and confused them even more. With a background in health science and a desire to help, Jess resolved to put together a book to guide other PRS families through the journey.

 

With information and research drawn from both personal experience and 150+ medical sources, photos, and interviews with more than twenty PRS families, Keep Your Chin Up is a guide to PRS written for parents, by a parent. This third edition revisits several families featured in the first edition, including updates three and a half years later, giving families a longer-term view on a PRS diagnosis.

 

 

Praise for Keep Your Chin Up

It provides an extensive and thorough understanding of PRS without being overwhelming, while also providing relatable insight into the experiences you may have as a parent of a newborn with PRS while the NICU.

– Shannon, PRS mom, USA

 

This book is what every parent with Pierre Robin Sequence should be presented with upon diagnosis. It is so helpful to see other families' progress and healing.

– Kelly, PRS mom, USA

 

This book is exactly what new PRS parents and families need to read. Showing [Jess's] own journey and providing all details, even the frustrating ones is exactly what is needed.

– Kiera, PRS mom, Canada

 

As a parent of a child with Pierre-Robin Sequence and it being so rare I found there was so little Information when I had Aria and had to learn a lot on my own .... So excited [this book is] now out.

– Alisha, PRS mum, Australia

• Language: English
• Publisher: Jess Carey
• Release date: Oct 19, 2023
• ISBN: 9780645851823

Jess Carey

Jess is a multi-genre writer from Melbourne who uses stories to connect with the vulnerabilities of others. While her first loves are food and travel writing and photography, she has also started to write from her lived experience with maternal mental health, building a supportive community for other parents. When she's not writing, she's working in public health, being Jasper's mum, and trying to finish a cup of tea before it goes cold.

Book preview

I acknowledge the Traditional Owners of the land on which I live and write; the Wurundjeri People of the Kulin Nation. They were the first story tellers, and I am humbled to create my own stories on their lands. I pay my respects to their Elders, past, present and emerging, and acknowledge their continuing connection to the earth on which I live.

For you, who are about to go through the PRS journey.

Keep your chin up; you got this.

First published by Jessica Carey, 2020 (Victoria, Australia)

Copyright © Jessica Carey, 2020

Photographs © Jessica Carey, except where otherwise stated.

All rights reserved. No part of this publication may be reproduced or transmitted in any form or by any means, electronic or mechanical, including photocopying, without prior permission in writing from the author. No part of this publication may be used in any manner for the purposes of training artificial intelligence technologies to generate text.

The author does not have any control over, or responsibility for, any third-party websites referred to in this book. All websites and doi references given in this book were correct at the time of going to press. The author regrets any inconvenience caused if addresses have changed or sites have ceased to exist, but can accept no responsibility for any such changes.

All efforts have been made at the time of publishing to include the most up to date and relevant information for the purpose of providing education and information to those affected by Pierre-Robin Sequence. No information included in this book shall be understood to be medical advice or care, nor shall any of the information included in this book be used to diagnose or treat any health issue.

Names: Carey, Jessica—author

Title: Keep Your Chin Up: Everything You Never Knew You’d Need to Know About Pierre-Robin Sequence

Identifiers: ISBN 978-0-6458518-3-0 (paperback) | ISBN 978-0-6458518-2-3 (e-book)

Subjects: Pierre-Robin Sequence | NICU | Medical | Parenthood | Birth

INTRODUCTION

As the sun set on January 14th, 2019, our lives changed forever; Jasper was born. A few minutes later, our new family’s life was turned upside down with the news that there was something wrong with our son. The following hours are still a blur, but the following day it was confirmed that our son was born with a rare condition called Pierre-Robin sequence. We were told to expect to spend a lot of time over the next few years in hospital with Jasper, and we were terrified.

As you may expect from any new parents faced with an unexpected diagnosis like we were, we did our best to find some information on our son’s condition, and in the process we fell down the Google rabbit hole. What we found were largely outdated, worst case scenarios that scared us out of our wits. The more we spoke to our medical team, the more we learned, but there was still a lot we weren’t told. Our Google search history over those first few weeks could have filled a book, and it was a book we’d have desperately liked to have gotten our hands on. That’s what I hope this book can be for you. I know this isn’t the welcome to the world you wanted for your child. I know you’re scared right now. I know you have no idea what to expect, and you’re struggling to get answers.

I know this, because I’ve been in your position and I decided that I wanted to help other families who found themselves where I was. As Jasper’s condition improved, I spent months doing research for a book with all of the information and statistics we went looking for when he was first diagnosed. So Keep Your Chin Up was born. This isn’t a medical text book, and it certainly won’t be a substitute for your medical team’s advice and guidance. But I hope it will help you understand what’s going on with your child, and help you to feel a little less alone.

The first section includes all the medical information – how the condition will affect your little one, what the treatment options are, what other issues you can expect to come up, those sorts of things. The second section will be a lot more personal – you’ll be able to read firsthand accounts from other PRS families and what their journeys have looked like. You’ll also find my own personal journal entries chronicling what we went through with Jasper, which I hope can serve to validate your feelings and show you that you’re absolutely not alone in this.

Pierre-Robin Sequence, while quite rare, is certainly not a death sentence. There are some amazing treatment options available, and hopefully, having access to this information will empower you to get through the tough road ahead a little more easily. Keep your chin up, it is going to be OK.

MEDICAL INDEMNITY AND DISCLAIMER

Before you start reading , it is very important that you understand that the information contained in this book is absolutely not a substitution for professional medical advice. I know you’ll be going through a really hard time right now and wanting some answers, but I am not a medical professional and cannot provide you with any specific medical advice tailored to your individual circumstances within this book.

This book has been compiled in an attempt to answer a lot of the questions many new parents have when faced with a Pierre-Robin Sequence diagnosis, and the information contained herein has been researched from medical journals and websites. But it is only general information - because there is such an enormous spectrum of severity in cases of PRS, there are no one-size-fits-all answers for many of the questions you will have. It is therefore imperative that you direct questions to your treatment team, so that they can give you accurate answers directly related to your child's specific case.

All efforts have been made at the time of publishing to include the most up to date and relevant information for the purpose of providing education and information to those affected by Pierre-Robin Sequence. No information included in this book shall be understood to be medical advice or care, nor shall any of the information included in this book be used to diagnose or treat any health issue. This is a condition that is constantly being studied, and the information contained herein is therefore subject to continuous change.

The author authorizes this book for personal use only. All other use including the copy and/or reproduction of any parts of this book is prohibited except with the express permission of the author and owners of the photographs herein.

SECTION 1:

WELCOME TO THE WORLD OF PIERRE-ROBIN SEQUENCE

WHAT EXACTLY IS PIERRE-ROBIN SEQUENCE?

SO YOU'VE BEEN TOLD that your new baby has a medical condition called Pierre-Robin (pronounced roh-bahn) Sequence. Great. What the hell is that??! Pierre-Robin Sequence is defined as airway obstruction + glossoptosis (the tongue being displaced) + micrognathia (a small, set back jaw). While up to 90% of children with PRS have a cleft palate¹ it isn't actually necessary for a PRS diagnosis.

Now, when you tell people that your new baby has Pierre-Robin Sequence, chances are you're going to get a very blank look in return, because it's pretty uncommon (we've spoken to GPs, emergency department nurses and obstetricians who had never heard of it). And that explanation isn't going to make your baby's condition any clearer to them. You'll start to form your own statement in response to the blank stares - ours became something along the lines of "he was born with a really small jaw, which meant his tongue couldn't come forward, so it blocked his airway and he couldn't breathe. It also blocked the roof of his mouth from closing, so he couldn't eat, either.

At the time of publishing, there is no known cause of PRS, only speculation. The generally accepted explanation is that the jaw stops growing properly for some reason, which in turn pushes the tongue upward, which stops the palate from closing (if the tongue had room in a larger jaw, it would come forward, allowing the palate to close).

While it is unknown exactly why this happens, it is thought to occur in the first trimester of pregnancy, most likely between 7 - 10 weeks gestation², ³, ⁴. What it is that stops the jaw growing is still unknown, although it has been suggested that it could be something to do with the SOX9 gene⁵. The SOX9 gene regulates the activities of some other genes, including those involved in skeletal development (such as the jaw bones). It has been proposed that there could be a mutation or deletion of parts of the body's DNA near this gene, which could affect the jaw's growth⁵.

The other gene that has been implicated in PRS is BMPR1B⁶. A 2017 study compared the genes of two PRS-affected families with non-PRS affected control subjects, looking specifically at the BMPR1B gene. This gene is a bone morphogenic protein (these proteins help to kick start the construction of joints and bones), so the study authors suggested that mutations or disruptions to this gene may be the cause of PRS.

Yet another possible explanation was found by Delorme et al⁷ who noted that in the PRS cases they observed, the tongue wasn't pushed back, but rather, was turned back at its base. This would mean, they said, that the small jaw would be the result of the tongue's position, not the cause of it. But again, the cause of the tongue’s disturbed position isn't known.

Unfortunately, when people ask you how it happened, this isn't something you're likely to have an answer for.

HOW IS PRS DIAGNOSED?

This is an incredibly difficult condition to diagnose prenatally. Even if a very detailed ultrasound can pick up baby's profile in utero and it appears to have a small jaw, it typically goes through another growth spurt after 20 weeks gestation ⁸ . And while it has been shown that many children diagnosed with isolated PRS may have had a family background of micrognathia (small jaw) and/or clefting, there is still no definitively known genetic cause ⁹ .

There has been some research into the possibility of diagnosing PRS in utero using foetal magnetic resonance imaging. A 2016 study by Rogers-Vizena et al¹⁰ found by using this imaging, that 123 foetuses that had some degree of micrognathia; 52 of those survived to birth, where the following diagnoses were made:

55.1% of those scanned in utero were found to have minor micrognathia - only 11.1% of these were diagnosed with PRS when they were born

30.6% had moderate micrognathia - 86.7% of them were diagnosed with PRS

14.3% were found to have severe micrognathia - all of them were diagnosed with PRS

These results may point to a surprisingly accurate way to predict a PRS diagnosis which would allow for some preparation before the birth, but it does require specialized equipment and specially trained staff to operate it, all bringing on extra costs.

Generally, PRS is diagnosed at birth or very soon after. The obstetrician, midwives or pediatrician may notice the small jaw and/or cleft palate instantly, as they did in our case. They may also notice the baby struggling to breathe when laid on their back. Other signs that baby is dealing with an obstructed airway are, looking extremely tired from the effort of breathing, or their chests may look like they're sucking in as they breathe¹¹.

HOW COMMON IS PRS?

It's hard to say exactly , because some medical professionals won't diagnose PRS without a cleft palate and some will, but the prevalence is estimated at 1 in 8,000 - 20,000 live births ¹², ¹³, ¹⁴, ¹⁵ . What you can say, though, is that your baby is a very special, very unique little person!

WHAT’S THE DIFFERENCE BETWEEN ISOLATED AND SYNDROMIC PRS?

Now that you know what PRS is, we'll confuse you a little more by telling you that there are two different types of PRS. Children diagnosed with PRS are often diagnosed with concurrent conditions and/or syndromes as well - this is referred to as 'syndromic PRS'. It's thought that 46 - 80% of PRS cases are syndromic ⁵, ¹⁶ . And yes, that is a pretty big discrepancy, but as mentioned earlier, treating physicians aren't totally in agreement over what actually constitutes a PRS diagnosis (cleft palate or not)! In a later section we'll look at conditions associated with PRS. This is also what makes it so difficult for doctors to give PRS families a straight answer as to how their children will fare with their condition/s. PRS runs over an enormous spectrum of severity, depending on whether there are any associated syndromes and what they are.

That leaves around 20 - 54% of PRS cases being referred to as 'isolated PRS'. These children only have the small jaw, misplaced tongue, resulting in airway obstruction and usually a cleft palate, but no further genetic conditions.

WHAT INITIAL TESTS WILL BE RUN?

As you'll see in some of the first-hand accounts later in the book, there is no gold-standard testing protocol once a child has been diagnosed with PRS. Some families have to request certain tests to be run; other families like ours, luck into a hospital that is incredibly experienced and proficient in dealing with PRS cases, and they run every test under the sun from the outset.

Within Jasper's first few days of admission to Melbourne's Royal Children's Hospital, he had undergone the following tests, which your child may also have had:

Hearing/audiology test

Several chest x-rays

Cranial ultrasound

Eye/sight examination

Physiotherapy assessment

Renal ultrasound

Several blood tests

Heart scan

Liver function test

Full genetics microarray testing

Several checks of glucose levels

Several urine sodium levels

Blood counts

Jaw x-ray

WHAT IS MY CHILD'S PROGNOSIS?

While PRS is a chronic health condition, on its own it is very manageable. PRS alone is absolutely not a life sentence, particularly with the advanced medical techniques available to treat it, so your child's prognosis is in fact, very good! That said, syndromic PRS can be a very different story, with each individual associated condition having its own complications.

Looking at just the PRS component, once your baby has been treated initially, their childhood years should be managed with a great focus on their speech development, growth and orthodontic care².

WHO WILL BE TREATING MY CHILD?

Whether your child's case is isolated or not, you'll likely have a small army of highly trained medical professionals helping them (and you) out. These are the specialists we've had on Jasper's treatment team, many of which you may meet on your PRS journey.

Neonatologist:

A neonatologist will usually be one of the first people involved in baby's treatment. These doctors specialize in newborns, and have been through about 14 years of training. They're generally walking, talking baby encyclopedias, so don't be afraid to ask them all your questions!

Surgeons:

There's a good chance baby may need some surgery, so you'll get to know a host of surgeons. This may include the maxillofacial team (who specialize in facial surgery), the cleft palate team and the plastic surgeons.

NICU nurses:

These are often the unsung MVPs of the treatment team. They're the ones with the babies 24/7, the ones who are making sure they're still breathing at 2am when they've sent you home to get some rest, the ones teaching you to use the special bottles, and helping to kick unwanted visitors who've overstayed their welcome out of the room. As you get to know them, they'll become family, and they'll look after you and your baby more than anyone.

Speech therapists:

Fun fact: when dealing with babies, speech therapists are used to help with feeding, not speaking! Because a PRS baby is likely having major problems sucking and swallowing, a speech therapist will be the person to help with this. They're the ones who'll work with you to find the right bottle and show you different techniques to feed, as well as other things you can do to help make feeding time an enjoyable experience.

Dieticians:

PRS babies are at an enormous risk of failure to thrive. They expend a lot more energy than other babies while trying to eat and breathe, so they often have a very hard time gaining and maintaining weight; while Jasper was born at a healthy weight that placed him in the 52nd percentile, he had dropped to the 6th percentile by the time he was 10 weeks old, and the 1st percentile by 14 weeks. This is where the dieticians come in - they'll make sure that you're equipped to keep baby's weight tracking safely when you take them home.

Audiologists:

Children with cleft palates often end up with hearing problems, so it's important for them to have regular hearing tests.

Ophthalmologists:

One of the most commonly associated syndromes accompanying PRS is Sticklers Syndrome, which often affects sight. Most hospitals will want to check baby's eyesight regularly for at least the first year, even if they're not diagnosed with Sticklers, to be on the safe side.

Infant Mental Health Team:

Again, not all hospitals may have the resources to offer this, but it was another one we found really helpful. If your hospital has an infant mental health team, they may be able to assist with some of your concerns about having your baby in NICU. Some of the assessments our team ran on Jasper included things like taking him out of my arms and facing him away from me to see if he'd turn his head when I spoke (indicating that he knew my voice).

Physiotherapists, Occupational Therapists, Hydrotherapists:

Unfortunately, NICU babies don't really get the same opportunities to move around as healthy babies, which can delay important practices like tummy time, which in turn can delay their motor development. Some or all of these specialists may be able to get involved after baby's NICU stay to help get them back on track a little quicker.

Social workers:

This one is more for the parents than the babies. We were assigned a social worker who was absolutely brilliant, and she made our stay in NICU a lot easier. She checked in with us regularly to ensure we were coping, wrote absence from work certificates, and liaised with