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.

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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

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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.

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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

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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. 10

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

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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.

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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.

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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.

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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.

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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.

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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.”

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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.

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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.

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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

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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

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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