Pierre Robin Sequence
Cincinnati OH USA
From: LEAVEN, Vol. 37 No. 5, October-November 2001, pp. 111-112.
It is eight o'clock in the morning and you have just served breakfast to your children when the phone rings. Answering the phone, you hear a tearful mother on the other end: "My baby has just been diagnosed with Pierre Robin Sequence. Can you help me? Will I still be able to breastfeed?"
As La Leche League Leaders accustomed to helping mostly healthy mothers and babies work through common breastfeeding difficulties, this question might leave many of us speechless and scrambling for information. Although encountered rarely, Pierre Robin Sequence has its own implications for breastfeeding and infant care, making it important for Leaders to have a basic understanding of the condition.
What is Pierre Robin Sequence?
Pierre Robin Sequence, first identified in 1923, is the congenital combination of an abnormally small lower jaw (micrognathia), cleft palate, and the posterior (or downward) displacement of the tongue (glossoptosis). In isolation, Pierre Robin Sequence (PRS) is not hereditary, however, since it occurs more than 80 percent of the time with at least one other genetic syndrome, it is considered a genetic disorder. The severity of PRS varies considerably, from some infants experiencing only feeding problems to others experiencing serious difficulties with feeding, reflux, breathing, speech and hearing, as well as complications from other syndromes (Pierre Robin Network 2001).
Feeding the baby with PRS
Nearly every baby with PRS will experience difficulty with feeding and weight gain. Because of his very small jaw, it is difficult for the baby with PRS to form a seal with his mouth at the breast. If this were the only problem, his mother would most likely be able to work around it by using different nursing positions. Unfortunately, the baby with PRS also has a cleft palate, which makes it difficult to create the negative pressure required to draw the nipple back into the mouth and suck (Lawrence 1999). The posterior displacement of the tongue can cause breathing problems, both during eating and sleeping. When the baby's body is in certain positions, his tongue can obstruct his airway (Pierre Robin Network 2001). Together, all of these problems make breastfeeding, and conventional bottle-feeding, nearly impossible. Eventually, through surgery of the cleft palate and natural growth of the chin, the majority of babies with PRS will grow into healthy children without the feeding issues that affected them as infants. However, because PRS involves more than a straightforward cleft palate, feeding at the breast is unlikely even as the baby gets older.
Weight gain is a problem for nearly all infants with PRS. Precious calories are lost during feeding sessions when the baby struggles to move milk to the back of his mouth, swallow it, and regulate his breathing. Unassisted by special technology, it can take over an hour to ingest only a couple of ounces. Parents and health care professionals commonly use one or more special feeding methods to maximize the caloric intake of babies with PRS. For some infants, the Mead Johnson Cleft Palate Nurser works well because it allows the parent to gently apply pressure in coordination with the baby's sucking and swallowing. However, this bottle only allows for limited squeezing pressure and the infant still must struggle to suck against the vacuum of air in the bottle. The Haberman Feeder, manufactured by Medela, has a flexible, elongated nipple that allows the parent to squeeze milk into the baby's mouth in coordination with his sucking and swallowing. The nipple is separated from the bottle by a valve that acts to keep the nipple full, thus eliminating the vacuum of air and rewarding even a very weak suck. Many babies with PRS respond well to the Haberman Feeder; however, some of the more severe cases require aggressive intervention. A nasogastric tube (also called an NG-tube) is a temporary feeding tube that is placed through the infant's nose, down the esophagus, and into the stomach. This method allows gravity to assist in feeding. An NG-tube can be used for up to 30 days. A gastric tube (also called a G-tube) is surgically inserted into the stomach and allows parents to give their babies any milk that wasn't taken orally (Pierre Robin Network 2001).
Other Problems Associated with Pierre Robin Sequence
Some babies with PRS will initially have feeding difficulties and move on quickly to a healthy, typical childhood. Others will experience a variety of problems, depending on the severity of PRS and the existence of other genetic syndromes. Frequent ear infections are common in young children with PRS. This can lead to surgery to insert tubes into the ear canals and if infections are not treated or prevented, to hearing loss and speech delays. Other problems with speech articulation can also occur. Reflux is common as well, often showing up at two to three months of age. Children with cleft palates are at risk of dental problems, and children with PRS may have crowded lower teeth as a result of the small jaw (Pierre Robin Network, 2001).
More than 80 percent of people with PRS have at least one of over 20 genetic syndromes. The two most common are Stickler's Syndrome and Velo-cardio- facial syndrome. Twenty-five to 30 percent of people with PRS have Stickler's Syndrome, a disorder that can affect the joints, eyes, palate, heart, and hearing. They may suffer from retinal degeneration, sensor neural hearing loss, prolapse of the heart's mitral valve, joint pain, and cleft palate. Velo- cardio-facial syndrome is the syndrome most commonly associated with congenital heart disease and cleft palate. There are over 180 other abnormalities associated with Velo-cardio-facial syndrome (Pierre Robin Network 2001).
How Leaders Can Help
Typical breastfeeding may be impossible for babies with PRS, but that does not mean that they cannot enjoy the benefits of human milk, especially when the condition itself presents specific health risks. The presence of a cleft palate increases the risk of recurrent ear infections in infants. Research has repeatedly shown an association between fewer ear infections and human milk (Duncan 1993 and Paradise 1994).
For the baby with a compromised respiratory system, exclusive human-milk- feeding offers significant protection against infection. Typically, babies with PRS will spend more time in the hospital for treatment and observation, all the while exposed to various infections against which human milk can provide important passive immunity. All of these reasons, and many more, make human-milk-feeding the superior option for babies who are physiologically unable to breastfeed. (THE WOMANLY ART OF BREASTFEEDING 1997).
Leaders can be an important source of information and support to mothers who wish to human-milk-feed. They can provide accurate information about pumping, storing and using human milk, and avoiding breast infections. Leaders can also help mothers problem-solve ways to incorporate full-time pumping into the already stressful routine of caring for a special-needs baby. Mothers of-babies with PRS may need support and encouragement from Leaders for their decision to human- milk-feed in light of criticism from family, friends, and health care professionals. The Leader can serve as a listening ear for the grief that comes with the loss of breastfeeding (Landis 2001).
While the baby with PRS might not be able to nurse at his mother's breast, he can still find comfort there. Leaders can encourage the mother to develop a nursing relationship, which may or may not include the baby at the breast (Good Mojab 1999/2000). Baby-wearing, cosleeping, and skin-to-skin contact are opportunities for all mothers and babies to bond and enjoy each other. It is important to remember that one of our most valuable roles as Leaders is to help and support each mother as she establishes her own unique and loving relationship with her baby.
Duncan, B. et al. Exclusive breast-feeding for at least 4 months protects against otitis media. Pediatrics 1993; 91(5):857-872.
Good Mojab, C. Congenital disorders: Implications for breastfeeding. LEAVEN Dec 1999/Jan 2000; 123-28.
Landis, J. Supporting the human-milk-feeding mother. LEAVEN Feb/Mar 2001; 3-6.
Lawrence, R. and Lawrence, R. Breastfeeding: A Guide For the Medical Profession, 5th Edition. St. Louis, Missouri: Mosby, Inc., 1999; 489-91.
Mohrbacher, N. and Stock, J. THE BREASTFEEDING ANSWER BOOK, Revised Edition. Schaumburg, IL: LLLI, 1997; 296-303.
Paradise, J. et al. Evidence in infants with cleft palate that breast milk protects against otitis media. Pediatrics 1994; 94(6):853-860.
THE WOMANLY ART OF BREASTFEEDING, 6th Ed. Schaumburg, IL: LLLI, 1997; 345, 349.
Web site: Pierre Robin Network: www.pierrerobin.org
Author's Note: I would like to thank everyone who contacted me after the publication of my article about human-milk-feeding in the February-March 2001 issue of LEAVEN. I was especially heartened by the stories of Leaders and other mothers who have experienced human-milk-feeding firsthand. It came to my attention that when I described conditions that might prevent breastfeeding, the statement, "Babies with bilateral cleft palates, babies with Pierre Robin Sequence, and babies with severe neurological impairments" was too exclusive. I want to clarify that there are many reasons why a baby may be unable to nurse, temporarily or permanently, and that each case is highly individual. I in no way intended to establish criteria for "acceptable" human- milk-feeding situations.
Jill Landis is a Leader in Cincinnati, Ohio, USA with the Blue Ash-Kenwood Group. She has two children: Emma (5) and Avery (2). Avery was born with Pierre Robin Sequence and received his mother's milk via a Haberman Feeder for 23 months.