TREATMENT PROTOCOLS FOR THE MANAGEMENT OF NEWBORNS WITH DSD

TREATMENT PROTOCOLS FOR THE MANAGEMENT OF NEWBORNS WITH DSD
	Chapter 2 TREATMENT GUIDELINES

The discovery of a DSD combined with the stress of birth puts parents in an especially vulnerable position.[Ahmed2004 Feder2002] It is critical, therefore, that attending health care professionals at the team’s medical center and at referring obstetric and neonatal units be trained to respond in a timely and calm manner that reassures the parents. The following steps outline recommended procedures; these are summarized in flowchart form in Figure 2.1 “Protocol Summary”.

OB/Gyn or other attending health care professional reassures parents and contacts multidisciplinary team. Upon recognition of a DSD at the time of delivery or anytime thereafter, the attending health care professional first lets the parents or care givers know exactly what they have noticed that is unexpected about the development of the child. (It can be helpful to also tell the parents that these kinds of variations in sex anatomy are not as uncommon as parents might expect.)[Blackless2000 Consortium2006b Kessler1998] The attending assures the parents that the health care professionals are going to attend to the needs of the parents and the child by consulting with health care professionals familiar with these concerns, and assures the parents that they will remain involved and informed in the process.

At this time the attending health care professional contacts the person on the multidisciplinary team designated as the primary contact, and the attending also contacts the family’s pediatrician to inform him or her of the finding of an apparent DSD.

	NOTE:
	Because CAH can result in adrenal salt-losing crisis and shock, CAH should be considered in all children with genital ambiguity. Until it has been ruled out, clinicians must attend to prompt diagnosis and treatment of possible CAH.

	A POUND OF PREVENTION: OUTREACH TEACHING
Parents and mental health care professionals report that over-reactions, unnecessary panic, and drama on the part of staff in labor and delivery constitute a lingering source of fear, anger, and depression.[Chase2002 Harmon-Smith1999 Chase1997] For example, several parents have been terrified and confused by having a nurse in the delivery room tell them “your baby is a hermaphrodite.” It is therefore critical that all attending health care professionals behave in a thoughtful and calm manner. Team members should also be aware that many parents referred from other hospitals may have already been unintentionally traumatized by naive or insensitive comments, and may need immediate help from mental health professionals to address those experiences. The best way to avoid this kind of problem is to do outreach teaching at local institutions so that referring obstetric and neonatal personnel understand the basics of DSD management. This handbook can be helpful in that endeavor.

A POUND OF PREVENTION: OUTREACH TEACHING

Parents and mental health care professionals report that over-reactions, unnecessary panic, and drama on the part of staff in labor and delivery constitute a lingering source of fear, anger, and depression.[Chase2002 Harmon-Smith1999 Chase1997] For example, several parents have been terrified and confused by having a nurse in the delivery room tell them “your baby is a hermaphrodite.” It is therefore critical that all attending health care professionals behave in a thoughtful and calm manner. Team members should also be aware that many parents referred from other hospitals may have already been unintentionally traumatized by naive or insensitive comments, and may need immediate help from mental health professionals to address those experiences. The best way to avoid this kind of problem is to do outreach teaching at local institutions so that referring obstetric and neonatal personnel understand the basics of DSD management. This handbook can be helpful in that endeavor.

Team liaison meets family. As soon as possible, a team liaison meets the parents/family of the child and explains the referral to the multidisciplinary team. If possible, the meeting occurs with the family’s pediatrician present so that the pediatrician can remain fully involved in the child’s care. This meeting can happen as an outpatient visit if the child is medically stable.
The liaison making first point of contact with the parents will typically find it necessary to provide initial supportive counseling to the family. If the designated liaison is not trained to provide counseling, a mental health professional so trained accompanies the liaison. It is likely that at this point the parents will ask numerous questions. It is important that the liaison indicate that more information will be forthcoming as it becomes available, and that it be acknowledged that waiting is hard. The liaison also informs the parents that tests and an examination will be necessary for the baby, and explains those tests and their purposes, writing down the information for the family.
The liaison also offers reassurance to the parents that they are not alone and that the medical center staff has worked with similarly affected children and their parents. The liaison at this time may also advise the parents of the presence of a peer/parent support person and arrange a contact by phone or in person if the parents so choose. Many parents will find it extremely comforting and calming to meet other parents who have been through a similar situation, and to see that children born with DSD can grow up to be happy, healthy, socially functional adults.[Feder2002]
Team coordinator contacts multidisciplinary team members. As soon as the team leader feels it likely a case conference will be needed, the team coordinator contacts members of the multidisciplinary team in order to set up a time for a case conference.

A small number of appropriate representatives of the medical team examine the child with the parents and family pediatrician present.

Setting the stage for the examination

Prepare for the examination and follow-up discussion. This includes having educational materials ready and having a comfortable room reserved for the follow-up discussion, one that will support a full and confidential conversation. Audio recording equipment may also be prepared so that the parents can be offered audio recordings of the discussion. (See below, item labeled “Sit down together and discuss findings”.)
Parents participate. The child’s parents are present for the examination. Whenever possible, it is recommended that both parents and the family pediatrician be present. Parents are also encouraged to bring a trusted friend or relative with them for support (though note that keeping the number of supporters small can help avoid the parents feeling overwhelmed).
Minimize personnel. When medical personnel substantially outnumber the family during an examination, the family often feels overwhelmed, frightened, and silenced.[Chase1997] Therefore it is recommended that the minimum number of medical personnel be present whenever examining an infant in the presence of her or his family, and whenever examining a patient who is aware of the exam, especially when the exam involves genital inspection.[Preves2003] Members of the medical team strive in this way to promote an environment that ensures privacy and dignity, and minimizes any sense of freakishness or panic.

When teaching. In teaching settings, attending physicians take care to (a) limit in number trainees present at examinations and meetings with the family by including only those charged with responsibility for care; (b) actively model and discuss patient-centered care with trainees involved in care. This handbook may be useful as a teaching tool in such circumstances.

	PRIVACY, CONFIDENTIALITY, AND CAREFUL USE OF LANGUAGE HELP REDUCE FEELINGS OF FREAKISHNESS
Because DSD involve sexual ambiguity, there’s a large potential for individuals and families dealing with DSD to feel freakish and ashamed. One MD who is also a parent of children with DSD suggests that the team social worker or nurse carefully go over HIPAA (Health Insurance Portability and Accountability Act, http://www.hhs.gov/ocr/hipaa/) rules periodically with the family, so that they know their rights. It can also be a good idea to have the team leader occasionally remind the team of how especially important confidentiality and privacy are in cases of DSD. Health care professionals can also avoid accidentally contributing to feelings of freakishness by avoiding the use of frightening and imprecise language (like “pseudo-hermaphrodite” and “intersex”). Out of a desire to please their physicians or to avoid confrontation, patients may give consent to group examinations or repeated unnecessary examinations even though it upsets them. One psychiatrist who has worked with adults with DSD says, “I have counseled patients who routinely consented to such examinations but dreaded and felt humiliated by them. One patient in particular reported that she was shown off to every pediatric endocrinologist who visited her MD’s institution, leading to a sense that she was her MD’s ‘most unusual’ (freakish) case. Because patients in general do not like to say ‘no’ to their doctors, doctors should avoid putting them in such situations.”

PRIVACY, CONFIDENTIALITY, AND CAREFUL USE OF LANGUAGE HELP REDUCE FEELINGS OF FREAKISHNESS

Because DSD involve sexual ambiguity, there’s a large potential for individuals and families dealing with DSD to feel freakish and ashamed. One MD who is also a parent of children with DSD suggests that the team social worker or nurse carefully go over HIPAA (Health Insurance Portability and Accountability Act, http://www.hhs.gov/ocr/hipaa/) rules periodically with the family, so that they know their rights. It can also be a good idea to have the team leader occasionally remind the team of how especially important confidentiality and privacy are in cases of DSD. Health care professionals can also avoid accidentally contributing to feelings of freakishness by avoiding the use of frightening and imprecise language (like “pseudo-hermaphrodite” and “intersex”).

Out of a desire to please their physicians or to avoid confrontation, patients may give consent to group examinations or repeated unnecessary examinations even though it upsets them. One psychiatrist who has worked with adults with DSD says, “I have counseled patients who routinely consented to such examinations but dreaded and felt humiliated by them. One patient in particular reported that she was shown off to every pediatric endocrinologist who visited her MD’s institution, leading to a sense that she was her MD’s ‘most unusual’ (freakish) case. Because patients in general do not like to say ‘no’ to their doctors, doctors should avoid putting them in such situations.”

Demeanor. Disclosing information regarding a child’s DSD is a highly sensitive matter. The approach and demeanor of the team members when interacting with the parents is crucial to the mental and emotional well-being of the family. Members of the team model honest, calm, sensitive, patient, and reassuring behavior that signals that the child is valued and lovable, and that the child is a source of pride rather than shame.
No NICU. If no emergency health concerns exist, the baby is not admitted to the NICU but remains with the parents or is placed in the nursery like other healthy children at the institution. (Sometimes infants born with ambiguous genitalia are placed in NICUs even though they have no life-threatening conditions. This unnecessarily heightens the anxiety felt by family members.)[Harmon-Smith1999 Feder2002 Preves2003] Health care professionals thus attempt to promote attachment of the parents with their baby and to lessen the potential for interference with parent-child bonding whenever possible.

Examining the infant
1. Introductions. Representatives of the team introduce themselves to family members and the family pediatrician and explain their roles in the child’s care.
2. Use of language. Representatives of the team explain the basics of how the exam will proceed, encouraging the parents to ask questions and raise concerns as they arise. Those doing the examination make sure to explain each procedure as they perform it. They also educate the parents about the child’s genital anatomy by talking about the names for the various structures as they are touched and by explaining any unfamiliar medical terminology. The team members periodically check with the parents to see if they have any questions as the exam proceeds. They model calm, reassuring openness and valuing of the child. This can be furthered by speaking gently to the baby using his or her name (if one has been given) or by using gender-neutral language. Phrases like “you’re a good baby,” “you’re doing so well, little one,” or “almost done now, sweet baby” promote connectedness to the baby during the exam, which is reassuring and instructive to the parents.[Chase1997 Harmon-Smith1999 Kessler1998]
3. Parents dress and hold child. When the examination is complete, the parents are encouraged to dress and hold their baby during the discussion.
4. Sit down together and discuss findings. The parents and the team members sit at the same level so that everyone can talk face-to-face. The team may offer to audio record the discussion so the parents can listen later again when they are more relaxed. See Chapter 4 SCRIPTS FOR TALKING WITH PARENTS, about how to answer frequently asked questions, including how to explain the process and timeline for gender assignment.) The team members advise the parents about what tests will be ordered and what they are intended to find out. When parents ask questions about sex development or complicated terminology, the team members use diagrams or models, draw pictures, and write down terms, names of procedures and team members, etc. (See Chapter 4 SCRIPTS FOR TALKING WITH PARENTS and Chapter 5 CORE REFERENCES AND RESOURCES for material useful when educating families.) Make sure the family can read the handwriting and are given the material to keep.
5. Provide contact information. The meeting leader leaves parents with a written copy of the names and titles of those who attended the meeting, and provides contact information for the team leader, team coordinator, and/or team liaison (depending on the team’s policy for who will function as chief contact at this point).
6. Continuity of support. Family members are likely to find the next few days of waiting for test results particularly stressful, so a designated liaison keeps in close contact with them to be sure they feel supported. The liaison encourages the family to hold, feed, bathe, dress, and cuddle the baby, and to perform any other activities that promote a sense of normalcy and bonding.

Team members order genetic, endocrinologic, radiologic, etc. tests as appropriate. Tests are promptly ordered to try to ascertain (1) the etiology of the child’s condition; (2) relevant details of the child’s anatomy and physiology. Findings from these tests will aid in deciding initial gender assignment and in planning for the long-term care of the child. They will also help parents feel more certain and less confused or anxious.
Multidisciplinary case conference. The multidisciplinary team meets for a case conference as soon as feasible.
- The team’s liaison presents background on the child and family, including noting whether the family has a strong gender assignment preference.
- Members of the medical team who conducted the initial examination communicate findings.
- Available test results are reported.
- Team members discuss the meaning of the results of examination and tests.
- Team discusses initial gender assignment recommendation(s), considering particularly which gender the child is likely to identify with when he or she is older.
- Team discusses treatment options.
- Team plans short-term follow-up and sketches out long-term follow-up.
- The team liaison promptly provides an oral and written summary of the meeting to the parents.
Representatives of the team meet with the family. As soon as possible after the case conference, appropriate representatives of the team meet with the family and, if feasible, the family’s pediatrician, to talk with them about the diagnosis, findings relevant to gender assignment decision-making, treatment options, and plans for follow-up. Parents are offered in advance the opportunity to have a supportive family member or friend join them. Again, the team should consider audio recording the conversation for the parents so they can listen again later. The team representatives give the parents the information available regarding gender identity outcomes in similar cases and let the parents know at what point it makes sense for the parents to settle on the initial gender assignment. (See the section called “Gender Assignment”.) The representatives of the team allow plenty of time and actively invite questions and concerns from the parents. (See Chapter 4 SCRIPTS FOR TALKING WITH PARENTS, about how to answer frequently asked questions.) They also talk with the family about the strengths of the child and family in order to put the DSD in appropriate context.
Sometimes in an effort to provide education, health care professionals have shown parents relevant articles from medical journals or textbooks. However, it is critical that parents not be unnecessarily frightened with typical medical text photographs (i.e., nude adults with eyes blacked-out). The team’s liaison(s) instead tries to introduce parents to adults with DSD, so that the parent can see that these children grow up to have a good quality of life. If this is not feasible, liaisons may provide positive self-supplied photographs and names of affected adults along with contact information for support groups. (The companion “Handbook for Parents” contains such photographs.)
Shortly after the meeting, the parents are provided with a written record or summary of the discussion as well as an audio recording if available. Families find it helpful to have information about diagnosis, treatment options, and prognosis repeated in subsequent conversations, so that they can fully absorb the information and ask more questions about it.
Provide long-term, multidisciplinary patient-centered care. The team provides appropriate, case-specific, long-term, multidisciplinary care (preferably through a multidisciplinary clinic) observing the principles of patient-centered care outlined on the section called “Definition of Patient-Centered Care for DSD”. Psychosocial needs are attended by appropriately trained members of the team. Practitioners will find that some families may require very little assistance; others will need more. Team members especially attend to their long-term responsibility to the patient, and work to ensure that the child is consistently treated in a way that is maximally respectful of his or her body and spirit.

	WHEN ENGLISH IS NOT THE FAMILY’S FIRST LANGUAGE
As we’ve stressed throughout this handbook, communicating frankly and sensitively with parents and other family members of children with DSD is especially important. Doing so when a language barrier exists is even more important and more challenging. Language barriers add to the fear and confusion already experienced by families and their importance should not be underestimated; parents who can’t communicate with health care providers are literally placing their child’s life into the hands of a person with whom they cannot effectively communicate.[Roat2005] It is a parent’s right to receive all information about their child’s DSD and any treatments that may be considered in a manner that is clear and understandable to them. Obtaining informed consent means that health care professionals must offer this information in the primary language of the parents.[AAPBioethics1995] For all these reasons, the team providing care should immediately contact a medical interpreter to facilitate open and clear communication with the family. It is imperative that a trained medical interpreter be used rather than a family member or non-specialist interpreter. Using a trained medical interpreter means that the information—even when highly technical—is translated correctly. Additionally, a trained medical interpreter, unlike some other interpreters, will also be accustomed to speaking about body parts that might be taboo in some cultures (i.e., sex and reproductive organs) and can do so in a way that is physiologically accurate and culturally sensitive. Thus, a medical interpreter ensures that patients and families get the most accurate information about a child’s DSD and all the available treatment options. The California Academy of Family Physicians’ toolkit “Addressing Language Access Issues in Your Practice” offers tips, guidelines, case studies, and recommendations to help your practice better serve all of your patients. The toolkit can be downloaded free from http://www.dsdguidelines.org/language_access.

WHEN ENGLISH IS NOT THE FAMILY’S FIRST LANGUAGE

As we’ve stressed throughout this handbook, communicating frankly and sensitively with parents and other family members of children with DSD is especially important. Doing so when a language barrier exists is even more important and more challenging. Language barriers add to the fear and confusion already experienced by families and their importance should not be underestimated; parents who can’t communicate with health care providers are literally placing their child’s life into the hands of a person with whom they cannot effectively communicate.[Roat2005]

It is a parent’s right to receive all information about their child’s DSD and any treatments that may be considered in a manner that is clear and understandable to them. Obtaining informed consent means that health care professionals must offer this information in the primary language of the parents.[AAPBioethics1995]

For all these reasons, the team providing care should immediately contact a medical interpreter to facilitate open and clear communication with the family. It is imperative that a trained medical interpreter be used rather than a family member or non-specialist interpreter. Using a trained medical interpreter means that the information—even when highly technical—is translated correctly. Additionally, a trained medical interpreter, unlike some other interpreters, will also be accustomed to speaking about body parts that might be taboo in some cultures (i.e., sex and reproductive organs) and can do so in a way that is physiologically accurate and culturally sensitive. Thus, a medical interpreter ensures that patients and families get the most accurate information about a child’s DSD and all the available treatment options.

The California Academy of Family Physicians’ toolkit “Addressing Language Access Issues in Your Practice” offers tips, guidelines, case studies, and recommendations to help your practice better serve all of your patients. The toolkit can be downloaded free from http://www.dsdguidelines.org/language_access.

Figure 2.1. PROTOCOL SUMMARY

	PRENATAL DIAGNOSIS OF DSD
Improvements in prenatal screening mean that increasingly fetuses are being diagnosed in utero with DSD.[New2003] Professionals treating DSD must therefore be prepared to help in these situations. This may include the following activities. educating the parents about what is known regarding the metabolic and psychosocial aspects of the DSD (this may include genetic counseling) informing parents about the services available to support children with DSD and their families providing parents with general DSD and condition-specific support group contact information, and encouraging them to talk with other parents and affected adults (meeting an adult with the condition often soothes parents’ fear of the unknown) offering parents professional mental health support if they are in distress doing educational outreach to local prenatal service providers so that they know how to connect expectant parents with DSD-specific health care professionals Parents can also be offered the companion “Handbook for Parents” (available through http://www.dsdguidelines.org). That handbook includes photographs of families and adults with DSD, words of comfort from other parents, and thoughtful letters from affected adults to parents.

PRENATAL DIAGNOSIS OF DSD

Improvements in prenatal screening mean that increasingly fetuses are being diagnosed in utero with DSD.[New2003] Professionals treating DSD must therefore be prepared to help in these situations. This may include the following activities.

educating the parents about what is known regarding the metabolic and psychosocial aspects of the DSD (this may include genetic counseling)
informing parents about the services available to support children with DSD and their families
providing parents with general DSD and condition-specific support group contact information, and encouraging them to talk with other parents and affected adults (meeting an adult with the condition often soothes parents’ fear of the unknown)
offering parents professional mental health support if they are in distress
doing educational outreach to local prenatal service providers so that they know how to connect expectant parents with DSD-specific health care professionals

Parents can also be offered the companion “Handbook for Parents” (available through http://www.dsdguidelines.org). That handbook includes photographs of families and adults with DSD, words of comfort from other parents, and thoughtful letters from affected adults to parents.