PierreRobin
Sequence
A G U I D E for F A M I L I E S
PierreRobin
Sequence
A G U I D E for F A M I L I E S
AUTHORS
Marilyn J. Bull, M.D., F.A.A.P.
Morris Green Professor of Pediatrics, Indiana University School of Medicine
Developmental Pediatrics, James Whitcomb Riley Hospital for Children
Indianapolis, Indiana
Carol J. Ritter, R.N., B.S.N.
Craniofacial Program, James Whitcomb Riley Hospital for Children
Indianapolis, Indiana
TECHNICAL CONSULTANTS
Howard M. Saal, M.D.
Professor of Pediatrics, University of Cincinnati College of Medicine
Head, Clinical Genetics, Children’s Hospital Medical Center
Cincinnati, Ohio
Robert J. Havlik, M.D.
Professor of Surgery, Indiana University School of Medicine
Medical Director, Craniofacial Program, James Whitcomb Riley Hospital for Children
Indianapolis, Indiana
Deborah C. Givan, M.D.
Clinical Professor of Pediatrics, Indiana University School of Medicine
Director, Apnea and Sleep Disorder Center
Section of Pediatric Pulmonology, Critical Care and Allergy, James Whitcomb Riley
Hospital for Children, Indianapolis, Indiana
SPONSORS
This project was funded with generous grants from:
The Columbia Club Foundation
Indianapolis, Indiana
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TABLE OF CONTENTS
Definition, page 5
What is Pierre Robin sequence?
What causes Pierre Robin sequence?
Breathing, page 7
Will my baby have trouble breathing?
What tests are used to check my baby’s airway?
How are my baby’s breathing problems treated?
Feeding, page 10
How do I know my baby is safe to feed?
Do I need a special nipple and bottle?
How do I hold and burp my baby?
Will my baby need help to gain weight?
Treatment, page 14
Will my baby have other problems because of the cleft palate?
When will the cleft palate be fixed?
Will more than one surgery be needed?
Who will treat and take care of my baby?
Four Stories, page 18
Resources, page 22
What resources are available?
Glossary, page 24
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This booklet is written for all families who have a
baby with Pierre Robin sequence. We hope that it
will help you understand your baby's problems and
the care your baby needs. Sometimes we have used
medical words that may be new to you. A list of
many words and their definitions is in the glossary
at the end of this book. If a word is in the glossary, it
will be highlighted in bold the first time it appears in
the booklet. If you have a question about words that
are not in the glossary, please ask your baby’s nurse
or doctor to explain. The treatment plan for each
baby is designed for that baby alone, and not
everything in this booklet will apply to your baby.
We encourage you to discuss your baby's needs
with your doctor. This booklet is dedicated to all
babies with Pierre Robin sequence and their
families.
4
DEFINITION
What is Pierre Robin sequence?
Babies with Pierre Robin sequence (pronounced “peaair row-ban see-kwens”) are born with a very small jaw
(micrognathia, pronounced my-crow-nay-thee-uh).
The small lower jaw allows the tongue to be placed back
and downward (glossoptosis, pronounced glos-op-tosis). Airway obstruction or “airway blockage” may
Soft palate cleft
develop over the first one to four weeks of life. Most
babies with Pierre Robin sequence also have cleft palate. Pierre Robin sequence is
named after the French doctor, Pierre Robin, who first described it in 1923.
What causes Pierre Robin sequence?
There are many reasons why a baby may be born with a small lower jaw. One
cause may be that the jaw does not grow at a normal rate. When the baby is
growing before birth, the head is bent down against the chest, and the palate (the
roof of the mouth) is still in two pieces that must come together. As the baby
grows, the head raises up, the lower jaw drops down and the mouth opens. This
lets the tongue drop out of the way, and the two sides of the palate join together.
If this does not happen, the palate does not close properly and the baby has an
open, or cleft, palate.
Since these things happen one after another (in sequence), this problem was
named Pierre Robin sequence. Some doctors think babies do not have Pierre
Robin sequence unless they have trouble breathing. However, most doctors think
a baby with a small lower jaw and cleft palate has Pierre Robin sequence.
Pierre Robin sequence can be your baby’s only
problem, or it can be only one part of a group of
problems called a syndrome. In some infants with
Pierre Robin sequence, there is a problem with
growth of bones in the face and the jaw bones are
too small. One-half of babies with Pierre Robin
sequence have other problems too. One
chromosome problem commonly seen in babies
with cleft palate is velocardiofacial syndrome. This is
Infant with micrognathia
5
caused when a piece of chromosome 22 is missing. A chromosome test may be
done to see if your baby has this syndrome.
Another problem seen in babies with Pierre Robin sequence is Stickler
syndrome. These babies have a group of findings that occur together including
small bones of the face, eye abnormalities, joint problems, and hearing loss.
Stickler syndrome is usually caused by mutations (changes) in the collagen gene
and is inherited directly from parent to child. It may also occur as a result of new
changes in collagen and appear in babies with no other affected persons in the
family. Children with Pierre Robin sequence are carefully examined for signs of
Stickler syndrome and other genetic conditions.
A “geneticist” is a type of doctor who can help find out if your baby has such a
syndrome. The geneticist may also be able to answer questions about your
pregnancy and whether there were other things that could have affected your
baby. It is best to find a geneticist who works with a “craniofacial team” (a group
of doctors, nurses, and other health care workers who take care of babies with
problems such as Pierre Robin sequence).
The Cleft Palate Foundation says about one out of every 2,000 to 30,000
babies has Pierre Robin sequence. The risk of having another baby with Pierre
Robin sequence depends on the cause of the problem.
6
BREATHING
Will my baby have trouble breathing?
Many infants with Pierre Robin sequence have trouble breathing because the
airway is blocked by the tongue. Breathing problems can be mild or severe. An
infant born with a cleft palate and a small chin should be checked very carefully
for breathing trouble. Breathing problems are not always obvious. Your doctor
can do special tests to check if there are breathing problems.
Signs of airway obstruction show up at birth or in the first few weeks of life. The
first sign is often rapid breathing. The breathing problem often gets worse after the
first one or two weeks. The baby’s breathing may then sound like “noisy
breathing,” snoring or stridor (a high-pitched noise) when the baby breathes in.
Another sign of airway obstruction is turning blue (cyanosis).
Your baby is more likely to have trouble breathing when he is lying on his back
or sitting in a car seat or infant seat. This is because the tongue may fall back and
block the back of the throat. He may also have trouble when he is awake, eating,
sleeping, or crying.
If you see your baby turn blue, or if you hear noisy breathing (such as a snorting
or choking sound) when your baby is on his back, turn him onto his stomach
immediately. This will help the tongue fall forward and open the airway. If your
baby has trouble breathing when he is on his back, he will need to lie on his
stomach all the time, even when you change his diaper or give him a bath.
The airway is so relaxed during sleep that your baby’s tongue can fall back in
to the airway. Snoring, restlessness, sweating, and irritability may be signs of
breathing trouble, and you should report them to your doctor right away. Some
babies with Pierre Robin sequence can even stop breathing some of the time
when they sleep. This is called obstructive sleep apnea. Babies without breathing
problems should sleep on their backs to reduce the risk of sudden infant death
syndrome (SIDS). Babies with Pierre Robin sequence, however, SHOULD NOT
sleep on their backs, because of their airway problems. Most babies with Pierre
Robin sequence should sleep on their stomachs or their sides. If your baby has
obsrtuctive sleep apnea, your doctor may recommend use of a cardiac apnea
monitor (also see page 9).
If the doctor says that your baby should not sleep on his back, make sure that
the baby sleeps on a firm mattress in his own crib. Do not use fluffy blankets or
comforters. Do not let the baby sleep on a pillow, waterbed or sheepskin, and
remove crib bumper pads. Also, keep your baby away from cigarette smoke. All
these things can cause breathing difficulties for any baby.
7
BREATHING
You may also hear your baby having trouble breathing when
he is in his car seat. Your doctor should order a breathing study
to be done while your baby is in his car seat, to be sure he will
be able to breathe well sitting up in the seat. Your doctor may
say you should use a special car bed instead of a car seat. Car
beds let your baby travel lying on his stomach, so the tongue
can fall forward and help the airway stay open. If your baby has
a home cardiac apnea monitor, it should also be used during
travel. You should use a car bed that meets federal motor
vehicle safety standards, just like regular baby car safety seats.
Most babies with Pierre Robin sequence outgrow their
breathing problems by the time they are six to eight months old.
Car bed that lets baby This is because the jaw grows quickly and moves the tongue away
ride lying down
from the back of the throat. The baby also learns to control the
tongue as he grows. Some babies get better more slowly than others, and these
infants may need more tests and more treatment than other babies.
In the first weeks and months of life your baby may need special help with his
breathing and eating. A team of doctors, nurses, and other health care specialists
can provide the care needed to help your baby do well. If your baby shows any
signs of airway problems or has a very small chin, your doctor should do tests to
find out if your baby is having breathing problems.
What tests are used to check my
baby’s airway?
If your baby shows any signs of airway blockage, your doctor
may need to do tests to find out if your baby needs special
treatment. A sleep study (polysomnogram) is done to check
your baby’s breathing pattern, heart rate, oxygen level in the
Sleep study
blood (oxygen saturation), and carbon dioxide levels. Your baby will be studied while
he is awake, asleep, eating, and probably in his car seat. Sleep studies should be done
in a pediatric sleep lab and read by people with pediatric experience.
Doctors will decide if special treatment is needed for your baby. The tests may have
to be done more than once in your baby’s first weeks of life, to find out if your baby is
having any new breathing problems. This is because breathing problems sometimes get
worse in the first 12-16 weeks of life. Often the tests have to be done in the hospital, so
the doctors can watch your baby closely and decide the best way to care for him.
8
How are my baby's breathing problems treated?
The sleep study may show that your baby just needs to sleep on his stomach to
help him breathe. At home, most babies will need a machine called a “cardiac
apnea monitor,” also called an “apnea monitor.” This will check your baby’s heart
rate and breathing constantly. The machine will alert you if
the baby's heart rate is too fast or too slow, or if he stops
moving his chest to breathe (apnea). If the doctor says your
baby needs the monitor, you will be taught how to use it and
what to do to help your baby if there is a problem.
If the sleep study shows your baby does not have enough
oxygen in his blood, the doctor may decide to treat him with
oxygen at home for a while.
If the airway obstruction is very serious, some babies while
in the hospital may need extra treatment for the obstruction.
Sleep study lab
Sometimes a tube is temporarily put into your baby’s nose
(nasopharyngeal intubation) or through his mouth (endotracheal intubation).
Some babies need an operation to help them breathe better. If needed, your
surgeon will decide which operation is best for your baby. One kind of operation
is called mandibular distraction osteogenesis. In surgery, distraction devices are
attached to the lower jaw bone on each side of the face. A screw is turned daily to
increase the distance. This makes the jaw bone grow longer. Moving the lower
jaw gradually forward will help move the tongue forward also making the baby’s
airway larger. Sleep studies will help the surgeon know when the screws no
longer need to be turned and the devices can be surgically removed. It usually
takes the jaw around three to four weeks to reach the desired length and then
another six to eight weeks for the jaw to heal completely.
Another kind of operation is called a tongue-lip adhesion. In this operation,
the surgeon attaches the tongue to the inside of the lower lip and holds it in place
Lines indicate where
bone is divided
Device placement
Infant with device in
place after surgery
9
FEEDING
with a small button under the chin. This pulls the tongue forward and helps keep
it out of the airway. The tongue will only need to stay attached to the lip
temporarily. Your baby’s airway will open more and get better as he gets stronger
and his chin grows forward. More sleep studies will help the
doctor to know when your baby’s airway problems are gone
and the tongue can be released. This usually happens when a
baby is between six and ten months old.
Rarely, a doctor has to make a small hole in the front of
your baby’s neck, so he can put a tube directly in the airway;
this is called a tracheostomy.
It is important to remember that a baby with Pierre
Robin sequence will always have an airway that is smaller
Tongue-lip adhesion
than normal. Your baby may have an airway obstruction
and button
again when the palate is closed, if he gets enlarged tonsils
and adenoids, or if he becomes very overweight. As your baby gets older, be sure to
tell your doctor if your baby has breathing problems, such as snoring, sweating or
restlessness, especially during sleep.
How do I know my baby is safe to feed?
Almost all babies with a cleft palate have some trouble feeding when they are
first born. The open palate makes it very hard for your baby to suck. The baby
can only get the formula out of the bottle by pressing the nipple against the
gums or roof of his mouth with his tongue. It is even harder for the baby to suck
and swallow when he has trouble breathing. To find out if your baby can suck,
swallow, and breathe safely, the doctor may order oxygen level tests and special
swallowing tests that are done by a video x-ray during feeding.
One special swallow test is called a videofluoroscopic swallow study. This test
can also be called a Modified Barium Swallow. If it is done with an oxygen
monitor, it is called an Oximetry Swallow. A radiologist and a developmental
pediatrician, nurse practitioner or speech pathologist perform this test.
Your baby is given formula, breast milk, and/or food with barium which
makes the liquid or food visible during the x-ray. When your baby swallows, the
movement of liquid or food from the mouth to the esophagus is closely watched.
If liquid or food goes into the airway, it is called aspiration. This can cause
choking, pneumonia, or asthma. However, some babies do not choke or cough
with aspiration. This is called silent aspiration.
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If liquid or food goes up into the back of the throat or out the nose, it is called
nasopharyngeal reflux. This often happens when a baby has a cleft palate and can
increase the risk for choking or aspiration.
If needed, the swallow study is used to test different textures, nipples or bottle
systems to learn what your baby needs to swallow safely. Using thickened milk, a
different nipple, or different flow rate may prevent
aspiration and/or nasopharyngeal reflux. A team working
together can make a plan to feed your baby safely and
also teach normal feeding patterns.
Do I need a special nipple
and bottle?
There are special nipples and bottles you can use to help
Enlarged cross-cut
your baby eat. Most babies can be fed with a preemie or
premature nipple
regular nipple with an enlarged cross-cut X. This means a
larger X-shaped cut is made at the end of the nipple so
the baby can suck more easily. (The milk should come
out one drop at a time when the bottle is turned upside
down. The X should stay closed until the baby opens it by
sucking.) The X size should be adjusted according to the
amount of milk your baby is able to control. If your baby
does not seem to be getting enough milk through the
nipple, try making the X a little bigger. If the formula
Enlarged cross-cut X
seems to come out too fast, cut a smaller X in a new
infant nipple
nipple. The X should be made with two cuts that are each
about 1/4" long.
If your baby is very small and weak, you should use a "premature" nipple,
since it is soft and easier to use. This premature nipple is cheap and easy to find
at the hospital. As the baby gets stronger, his sucking may make the premature
nipple collapse. Then it is important to change to an infant nipple with an
enlarged X-shaped cut.
Bottles with disposable liners flow too slowly for the baby to get formula
easily. A Volufeed® bottle makes it easier for your baby to get formula out of the
bottle. The Volufeed® also is easier for you to hold close to the nipple, so that
you can support the baby’s chin and cheeks with your fingers. Doing this helps
11
FEEDING
Premature nipple
with Volufeed®
bottle
Mead Johnson
nipple and bottle
your baby use the chin and cheek muscles to suck the
formula from the bottle. Stroking his chin with
your fingers will also encourage your baby to suck
when he begins to get sleepy.
There are many different nipples and bottles on
the market to feed a baby with a cleft. Your doctor
may recommend one of them. The Mead Johnson
Pigeon nipple
Cleft Palate Feeder has an already enlarged cross cut
X on the nipple which is placed on a squeeze
bottle. The person feeding the baby can squeeze to
help the baby feed. To prevent choking, be careful
not to squeeze the bottle when the baby is
stopping to breathe.
The Pigeon nipple has a Y-cut. The nipple is
softer on the bottom making it easier for formula
to be released into the baby’s mouth. The collar on
the bottle can be tightened or loosened to change
the flow of formula.
Haberman nipple
The Special Needs (Haberman) Feeder has a
and bottle
squeezable nipple with a slit. There are three
markings on the nipple to allow three different flow
rates. A special valve allows a slow and even flow of formula.
How do I hold and burp my baby?
When you are feeding your baby, hold him sitting up. When he
is sitting straight up, the formula is less likely to go into his nose.
You should help hold his head by putting your thumb on one
corner of his jaw and your fingers on the other corner of his
jaw. While you are feeding the baby, tilt the bottle up a
little so the nipple is always filled with formula.
This will help your baby swallow less air. Feeding
can be made easier if the nipple is angled to the side
of the mouth away from the cleft.
Because of the cleft palate, your baby will swallow
a lot of air with feedings and will need a lot of
burping. He should be burped after he has swallowed
each 1/2 ounce. If the baby is very hungry, he may burp after the first ounce and
then every 1/2 ounce after that. It takes a lot of energy and effort for a baby with
Pierre Robin sequence to eat, especially if there are breathing problems, so limit
his feeding time to 30 minutes. The total time, including burping and a diaper
change, may be 45 minutes. If he takes more than 30 minutes to eat, the baby
will start to use more calories than he gets from the formula.
When you are feeding your baby, do not let too much formula go into his
mouth at one time. If you notice any choking or coughing with feedings, tell
your doctor or nurse. Coughing and choking with feedings can be serious; you
should call your doctor or nurse right away.
Will my baby need help to gain weight?
Your baby may need extra help to gain weight, especially if there is breathing
trouble. If your baby needs to gain more weight, your doctor, nurse, or
nutritionist can teach you how to add more calories to the baby’s formula. If
your baby has lost a lot of weight or is having trouble sucking, swallowing, and
breathing, he may have to be fed with a stomach tube (nasogastric tube). This is
a soft tube that is put into your baby’s nose and down into the stomach. You give
your baby formula or breast milk through the tube if he cannot drink enough by
bottle. You will learn how to do these feedings so you can do them at home. The
baby will learn to bottle-feed as he gets stronger and is able to breathe in
between sucking and swallowing. Feedings will be much easier as your baby
grows. Rarely, babies need a gastrostomy tube, a feeding tube that is put into the
stomach with surgery.
Some mothers ask if they will be able to breast-feed their baby with Pierre
Robin sequence. Most babies with Pierre Robin sequence cannot breast-feed.
The opening in the palate makes it impossible for the baby to seal off his mouth
and create the suction needed to get enough milk. This is like trying to suck
liquid through a straw with a large hole in it. Some mothers choose to pump
their breast milk and give it to their babies by bottle or tube.
As your baby gets older, he can have strained foods and table foods at the
same age as any other baby. This is true as long as he does not have breathing
trouble, and he has been gaining weight well in the early months of life. Ask your
doctor before starting spoon-feeding.
13
TREATMENTS
Will my baby have other problems because of
the cleft palate?
Ear Problems: Your doctor will watch your baby carefully for ear infections.
When babies have cleft palate, it is easy for fluid to collect inside their ears.
Whenever fluid sits in the ear, bacteria can grow and cause an ear infection. Ear
infections, or even too much fluid in the ear, can cause a temporary loss of
hearing. If your baby gets a fever, is irritable (crying or not sleeping well), or is
pulling on his ears, the doctor or nurse practitioner should see him. These
symptoms often happen at the same time as a cold or runny nose. If your baby
has an ear infection, your doctor may give him an antibiotic. Your baby should
also be checked by an otolaryngologist (ear, nose, and throat doctor). This
otolaryngologist should be a doctor who works with a cleft palate team, or is
familiar with caring for a baby with a cleft palate.
You may have heard of babies getting “tubes in their ears.” Most babies with
Pierre Robin sequence get fluid in their ears and/or many ear infections. Your
baby may get "tubes" (bilateral myringotomy tubes, or BMTs) with surgery.
These tubes will drain fluid out of the ears; this should improve hearing and
help your baby get fewer infections. Your baby’s hearing should be watched
closely by an audiologist, who does hearing tests.
Speech Problems: The palate is important for making normal speech sounds.
Your child may have trouble making some sounds when he or she begins to talk.
Your child should see a speech pathologist who is experienced with children who
have cleft palates. Speech therapy is often recommended.
When will the cleft palate be fixed?
The cleft of the palate is usually fixed with surgery when your child is between 9
and 24 months old. The timing will depend on the size of the cleft, how open the
child’s airway is, and general health. Your craniofacial team can tell you the best
time for your child’s operation. Surgery may have to wait until your child is
older if he has airway or other medical problems.
14
Will more than one surgery be needed?
Sometimes even after palate surgery, your child may still have some problems with his
speech, even with speech therapy. When he is older, your child may need another
operation to improve his speech. He may also need to have his tonsils and adenoids
taken out to help him breathe better. If taking out the tonsils and adenoids does not help
his breathing, other treatment may be recommended.
In most children the small chin will grow to normal size. Surgery to enlarge the jaw is
rarely needed.
Who will treat and take care of my baby?
The craniofacial team is made up of many pediatric specialists, each of whom is trained
to take care of all your child's special needs. They work together to make the best plan
for treating your child. You as a parent are an important part of the team. The pediatric
specialists who are most likely to be taking care of your child are listed below.
Primary Care Doctor
Your baby will continue to need a doctor who will do regular care and immunizations.
The specialists caring for your baby will work with your doctor and share treatment
plans and suggestions after each visit.
Pediatric Plastic Surgeon
This is a doctor who specializes in examining and operating on the cleft palate. He or she
will decide on when and what kind of surgery your baby should have to close the cleft
palate. He or she may also do other surgeries, such as mandibular distraction
osteogenesis if it is needed, or other operations on the cleft palate.
Pediatric Pulmonologist
This is a pediatrician who specializes in breathing, airway problems and sleep studies. This
doctor may read the sleep studies and give you and the treatment team suggestions about
the use of monitors, need for oxygen, surgery, or other treatments to help with the airway.
15
TREATMENTS
Developmental Pediatrician
This doctor may help with your baby’s feeding, nutrition, airway, growth and
development. Your primary care doctor will still do the routine baby care, but
the developmental pediatrician works with him or her to watch for the special
needs your baby may have because of the cleft palate and airway problems.
Pediatric Otolaryngologist
This doctor is also called an ear, nose and throat (ENT) specialist. The
otolaryngologist will check your baby’s ears for infections and fluid and decide if
tubes are needed. This doctor is the one who puts in the ear tubes and takes out
tonsils and adenoids with surgery, if necessary. In some hospitals the
otolaryngologist or other surgeons may also repair the cleft palate and help with
your baby’s other operations.
Geneticist
The geneticist studies your baby’s family history and physical findings. Some
craniofacial problems are inherited. The geneticist can help find out if your baby
has a “syndrome,” and if it is inherited. The geneticist can give you facts about
your baby’s problem and tell you about the risk of having another baby with the
same condition. Many geneticists are also pediatricians who help take care of the
same problems as the developmental pediatrician.
Pediatric Nurses
The registered nurses work very closely with the plastic surgeon and the other
team members. The nurses are skilled and experienced in showing you how to
feed your baby. At follow-up visits, the nurses check your baby’s weight, height,
head size, growth and development. The nurses help tell you about your baby’s
surgery and teach you about taking care of your baby when you leave the
hospital. The nurses can answer most of your questions about your baby’s
feeding, nutrition, development, general care or treatment plan.
Pediatric Occupational Therapists
These therapists may help show you how to feed your baby.
16
Pediatric Speech Pathologist
The speech pathologist specializes in speech and language and will check your
child’s speech. He or she will give you suggestions about things to do to help
your child’s speech. Many children will need speech therapy, and to get this help
you will be sent to someone in your own community, if possible. If your child
has speech that sounds nasal, a video-endoscopy may be performed to
determine whether surgery is needed. The speech pathologist may also help
show you how to feed your child.
Audiologist
The audiologist does hearing tests and checks the eardrums. If hearing tests are
not normal, if your baby has fluid behind the eardrums or has had many ear
infections, an appointment with an otolaryngologist will be made.
Pediatric Dentist
The dentist will answer questions about your baby’s teeth.
Pediatric Social Worker
The social worker can help you cope with your baby’s special needs and give you
emotional support and guidance. He or she is very knowledgeable about
community resources and financial help that may be available for your baby.
Team Coordinator
A team coordinator may help set your baby’s appointments, keep records,
schedule your baby’s operation and talk with the team and local health care
providers about your baby's care.
17
Four Stories
Eryn’s Story
My wife and I were very much looking forward to the
birth of our third daughter. When Eryn was born she was
quickly diagnosed with Pierre Robin. We found ourselves
totally overwhelmed not knowing really what to expect.
Eryn went from birth directly to NICU; my wife and I
never got to hold her.
Eryn spent the next two weeks in
NICU, having a feeding study and a series of sleep studies. She
needed a nasogastric tube for feeding, a specially designed car seat
and a breathing monitor. We quickly learned that there was no
way my wife could return to work. Over the next two months,
repeated sleep studies were done to monitor Eryn’s breathing.
Eryn failed her latest sleep study and we knew that meant Eryn
would need surgery. She was admitted to the hospital and Dr. Havlik performed a jaw
distraction. Following surgery, Eryn went to PICU. It was very difficult to see her on all
the monitors and breathing machine but we knew it was for the best. We didn’t get to
hold her for several days, which was hard, but it was amazing to see that she was now
able to sleep on her back. Five days following surgery, Dr. Havlik started moving Eryn’s
lower jaw. We went home two weeks after surgery, turning the devices daily and within
twenty days Eryn’s jaw moved forward 20mm(3/4 of an inch). Eryn ate her first meal by
mouth that Thanksgiving. Eryn’s breathing improved; she even passed her next sleep
study. About three months after surgery, the distracters were successfully removed. We
think so much of Dr. Havlik and his whole staff, and we appreciate all that everyone has
done for our family by helping Eryn.
Her palate was repaired around 17 months of age and this also was a success.
Today Eryn is doing very well, running, playing, eating and talking like a normal
toddler. Her speech is improving through speech therapy. Eryn said “Da-Da” for the
first time last month.
My advice to any parent is to stay informed, ask questions, and try your best to have a
positive attitude whatever the case may be. It is a long road ahead of you, but look at
that little baby and just know that it is all worth everything you are about to go through.
Eryn says “Bye Bye.”
18
Kourteney’s Story
When Kourteney was born, Cindy Brooke
already had an 18-month-old at home, and was
going to school to become a respiratory
therapist. Bringing home a new baby who
needed tube feedings every two hours, 24 hours
a day, made life more than a little complicated.
Cindy decided to quit school, but her instructor
wouldn’t allow it. So, as Kourteney’s health
improved, Cindy began taking her to class, and
when Cindy had to take exams her classmates kept an eye on Kourteney. Today
Cindy is working as a respiratory therapist, and as for Kourteney, now 3 1/2,
“you could never tell the child was ever sick a day in her life.”
Kourteney had lots of doctor’s appointments and sleep studies the first year,
and has had seven surgeries to date. She started
physical and occupational therapy at two months
because her development was delayed as a result of
her early surgery (a tongue-lip adhesion at 17
days). Therapy at two months involves dangling a
tempting toy in front of a baby and getting her to
grab it. Kourteney’s jaw is still growing and she will
need braces eventually, but her orthodontist
already says it is very hard to tell that she has
Pierre Robin. She continues speech therapy, and
sees the plastic surgeon once a year for a checkup,
but otherwise is doing very well.
Cindy’s advice to parents: Keep up on the information that’s available, and if
at all possible contact somebody else who’s been through it. Keep up with the
physical therapy and the occupational therapy.
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Sarah’s Story
As a professional musician, Michael Shasberger was worried
Pierre Robin would keep his daughter from singing. Today he
can laugh at that memory, because Sarah sings in two Colorado
choirs, in addition to playing violin in a children’s orchestra.
“She is a very
spunky little kid,” he says of the 10year-old. “Kids find ways to cope.
They’re very resilient.”
Instead of a tracheostomy Sarah had
a tongue-lip adhesion, which (in
addition to keeping her airway open
until her jaw grew), allowed her to use
her vocal cords and her singing voice.
Shasberger says Sarah has a tiny
hearing loss (such a small one it has
no effect on her music), and is about to start wearing braces for Robin-related
dental problems. Otherwise she is doing very well, with no remaining speech
problems, and no hint in her appearance that she started out looking different
from other children.
Shasberger’s advice to parents: “Look down the road in terms of insurance.”
When he moved his family to Colorado the question of insurance for Sarah’s future
care didn’t occur to anyone. Things have worked out, but it took a lot of work to
get coverage.
20
Stephanie’s Story
“The Pierre Robin was horrifying to
me,” says Stephanie Savage’s mom,
Debbie Miller. “I look back and think
‘I could never go through that again.’
It was very difficult on her. But
surgery-wise it went real, real well. I
never would have believed in a
hundred years that she would have turned out as well as she has.”
Today 14-year-old Stephanie plays her two favorite sports (basketball and
talking on the phone) enthusiastically. Braces and special treatment gave her
near-perfect teeth, and her speech and mental, social and intellectual
development are all normal. She’s spent a considerable amount of time on a
CPAP machine, which helped her breathe at night. She’s had her tonsils and
adenoids out to widen her airway, and she still has some trouble with sleeping.
Given the problems she had in the beginning though, no one, including her
parents, would have thought she would do so well.
The hospital where Stephanie was born was not familiar with Pierre Robin
and did not know the best way to treat her, or feed her. A
relative recommended taking her to Riley, and for
Stephanie that was the turning point. Specialists there
knew not only how to keep her alive, but also how to help
her thrive.
Miller’s advice to parents: Get a second opinion from a
craniofacial team at a children’s hospital as soon as possible.
21
RESOURCES
What resources are available?
Many medical centers have support groups for parents with babies who have
Pierre Robin sequence. These groups meet on a routine basis to share
experiences and concerns. Many parents find it helps to talk with someone else
who has a baby with the same problems.
The American Cleft Palate-Craniofacial Association (ACPA) is a group of
professionals (including plastic surgeons, pediatricians, geneticists, dentists, oral
surgeons, orthodontists, speech therapists, nurses, and other specialists) who
care for babies with cleft palates and other craniofacial abnormalities. This
association is dedicated to establishing standard guidelines of care. The
association also produces educational materials and booklets. They can also help
you find a local craniofacial team. You can contact their national office at:
American Cleft Palate-Craniofacial Association
1504 E. Franklin Street, Suite 102
Chapel Hill, NC 27514-2820
1 (919) 933-9044
Web site: www.cleftline.org
You may also contact the 24-hour Cleftline for booklets and information about
treatment teams, and parent-patient support groups in your area.
1 (800) 24-CLEFT
The Children's Craniofacial Association (CCA) addresses the medical, financial,
psychosocial and educational concerns of a baby with a facial abnormality. The
national office can be contacted at:
Children's Craniofacial Association
13140 Coit Road, Suite 517
Dallas, TX 75240
1 (214) 570-9099
1 (800) 535-3643
Web site: www.ccakids.com
22
AboutFace USA is an international organization that helps families who have
children with a cleft or facial difference. They provide information such as
newsletters, videos, and educational materials. For more information contact:
AboutFace USA
P.O. Box 751112
Las Vegas, NV 89136
1 (888) 486-1209
1 (702) 769-9264
Web site: www.aboutfaceusa.org
The Pierre Robin Network is a not-for-profit organization dedicated to
supporting and educating individuals with an interest in Pierre Robin sequence.
These individuals include parents, adults with PRS, family members, caregivers
and professionals.
Pierre Robin Network
3604 Biscayne
Quincy, IL 62305
Web site: www.pierrerobin.org
Wide Smiles was formed to ensure that parents of cleft-affected children do not
feel alone. Support, inspiration, information and networking for families is
offered.
Wide Smiles
P.O. Box 5153
Stockton, CA 95205-0153
1 (209) 942-2812
Web site: www.widesmiles.org
23
GLOSSARY
Airway: the path air takes to go to the lungs
Antibiotic: medicine that kills bacteria
Apnea: breathing stops
Aspiration: liquid or food getting into the lungs
Audiogram: hearing test
Chromosome: material in the cell that holds genes
Cleft: an opening
Desaturation: low oxygen in the blood
Gastrostomy tube: feeding tube that is put into the stomach with surgery
Genes: parts of chromosomes that decide what traits you inherit
Glossoptosis: when the tongue is placed back and downward
Hereditary: characteristics that are passed on from parents to a child
Intermittent gavage tube feeding: when a nasogastric (NG) tube or oral gastric (OG)
tube is used to carry formula into the stomach
Mandible: lower jaw
Mandibular distraction osteogenesis: lengthening of the lower jaw with surgery
Micrognathia: a very small jaw
Nasality: abnormal flow of air through the nose during speech
Obstruction: blockage
Otitis media: middle ear infection
Palate: roof of the mouth
Polysomnogram: sleep study that measures breathing pattern, heart rate, oxygen, and
carbon dioxide levels
Radiologist: a doctor with special training in all types of x-rays and other radiology tests
Sequence: a group of abnormalities caused by one developmental defect
Stridor: high-pitched noise when the baby breathes in
Syndrome: a condition with a set of signs and symptoms
Tongue-lip adhesion: temporary attachment of tongue to lower lip with surgery
Video-endoscopy: a procedure where a narrow flexible scope that is attached to a video
camera is passed through the nostril to view the palate from above
24
Produced by the Medical Educational
Resources Program, Creative Services,
Indiana University School of Medicine,
Indianapolis, Indiana
Design: Grove Design
Editing: Elaine Crabtree
Photography: Debby Crevonis
© Copyright Indiana University Board of Trustees, 2008
Riley Hospital for Children
Indianapolis, Indiana
That they may have life, and have it abundantly
www.rileyhospital.org