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Surgery Considerations for girls with Classical Congenital Adrenal Hyperplasia

Surgery Considerations

Surgery Consideration for Girls with Classical CAH

Mia Moody, Kelly Leight, Laurie Ember and Richard C. Rink, MD

So you have just been told that your baby girl has a genetic disorder called Classical Congenital Adrenal Hyperplasia.  You are scared, confused, and upset.  Aside from the medical aspects of the disease (adrenal crisis), the need for medication and careful medical monitoring for the rest of her life, you are now confronted with the decision of what to do with her genitals.  They don’t necessarily look like your idea of what a normal female should look like.  Should your daughter undergo reconstructive genital surgery?

The decision to undergo reconstructive surgery is not one that should not be made quickly or under pressure.   CARES suggests that every parent of a CAH baby girl educate themselves as much as possible about the condition and about the surgical options before considering surgery. 

CARES strongly recommends that no surgery be done until:
1) the child is medically stable;
2) the parents are fully informed of the risks and benefits; and
3) an expert surgeon is found.

Ultimately, the decision about whether and when to perform surgery is intensely personal.  Whatever you choose, you must be comfortable and confident in your decision and your choice of surgeon.  Please visit our page on making informed decisions to learn more about this process. Below are some frequently asked questions that may help guide you through the decision-making process.

Our Philosophy
How different are our daughter’s genitals from other female children?
Is my baby really female?
What is the Prader Scale and what are the Prader Scale levels?
What are the tests ordered by my child’s urologist?
Is surgery really necessary?
How do I choose a Pediatric Urologic Surgeon?
When should surgery be performed?
How do Adult Women with CAH Feel about the Timing of Surgery?
Will my child require additional procedures?
What are clitoroplasty, vaginoplasty and labioplasty?
How do I determine what procedure(s) my daughter needs?
Can vaginoplasty be done without clitoroplasty?
When is vaginoplasty appropriate?
How will my daughter look after the surgery?
What has been the outcome of previous surgeries?
What if a child’s Birth Certificate reads “male,” but she is female?
Should I receive any counseling to make a well rounded decision?
Can our family talk to another family who has been through this?
Conclusion

Other Related Considerations
Protecting your Child's Modesty and Privacy
Secrecy and Shame
How Do I Talk to My Child About Her Condition and Surgery?


Our Philosophy
CARES Foundation, Inc. is here to support all CAH families and affected individuals. In the past most virilized girls with CAH underwent surgery - often called “feminizing genitoplasty”- due to a long held belief in the importance of “normal” looking genitalia for healthy social and sexual development. Recently, the importance and desirability of correcting the genitalia has been questioned by some. Though many families still opt for surgical correction in infancy, some have now chosen to wait until the child is older and can be involved in the decision-making process. Still others will not consider surgery at all for their daughters. This is a personal decision to be made by the family, in consultation with their physicians, based on the medical situation specific to each child. CARES Foundation does not endorse any specific course of action, but is here to support all families under all circumstances.

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How different are our daughter’s genitals from other female children?
Your daughter may look different, but she has all of the female reproductive organs. She has a uterus, vagina and ovaries. She will be able to bear children. The degree of virilization (masculinization) affecting your daughter will be can be graded on a classification known as the Prader Scale.  Your daughter’s pediatric urologist or pediatric endocrinologist will be able to tell you what Prader Level she is.

prader 4
Typical Prader 4

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If my baby is severely virilized and looks like a boy, how can I be sure that she is really a female?
In cases where a newborn is severely virilized (Prader 4.5+), parents can feel a great deal of distress and confusion when told that their “male-looking” child is in fact a girl.  Many of us at CARES have gone through this emotional turmoil. 

Remember that while the outward appearance, with the enlarged clitoris and fused labia may resemble a male, the internal organs are, indeed, female.  The tests performed to view the internal structures will verify this.  The baby may have fusion of the vagina and urethra, but the vagina is still there, as are the ovaries and a uterus.  Although the fused labia may have the appearance of testicles, there are no testes or no prostate.  The sex organs are female.  A karyotype (to determine chromosomal gender XX or XY) will also confirm the gender.

A sex assignment of female is recommended for CAH virilized 46, XX newborns.  This preserves the child’s fertility and is in line with the child’s chromosomes.  The situation of late diagnosis where the child has lived as a male for a significant period of time is a special situation requiring expert consultation. This is a rare situation in Western countries but can occur in some developing countries. 

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What is the Prader Scale and what are the Prader Scale levels?
The Prader Scale is a scoring system for grading the degrees of genital masculinization.  The Prader Scale starts at “0”, which is an unvirilized female, and ends at “5” which is a completely virilized female (a female who appears externally male at birth with the labial/scrotal sac empty since there are no testicles).  The picture below shows the Prader Virilization Scores.

prader scale
(From Speiser and White; Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency; Endocrine Reviews 21(3): 245-291; 2000)

A good online visual tool to better understand the Prader Scale can be found at: www.aboutkidshealth.ca from the Hospital For Sick Children in Toronto

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What are the tests ordered by my child’s urologist?
Some urologists order pre-surgical tests to better understand your daughter’s internal structures. Many girls with Classical CAH have a common urogenital sinus. This means that the urethra and vagina are joined internally. Instead of having two openings—one for the vagina and one for the urethra, she only has one opening. 

Ultrasonography or a CT scan are often used to view the ovaries and uterus and at times the vagina can be visualized. These are non-invasive tests done on the outside of child’s abdomen.

Cystoscopy is a procedure that may be performed to view the inside structures, to determine the confluence of the vagina and urethra, and to see whether there are any obstructions. The confluence is the point internally where the two structures meet.  Cystoscopy requires anesthesia (usually general anesthesia is used for babies) and is an invasive test. Cystoscopy is a test that allows her doctor to look at the inside of the bladder, urethra and vagina using a thin, lighted instrument called a cystoscope.

The cystoscope is inserted into the opening (common urogenital sinus) and slowly advanced into the bladder. Cystoscopy allows her doctor to look at areas of the bladder, urethra and vagina that usually do not show up well on X-rays. Tiny surgical instruments can be inserted through the cystoscope that allow her doctor to remove samples of tissue (biopsy) or samples of urine from each kidney if needed. Some urologists delay the cystoscopy until the time of surgery in order to eliminate the need for an additional anesthesia  for the child. If there are no signs of infection or obstruction, then this is a thoughtful approach to the child’s well-being.

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Is surgery really necessary?
Whether a surgical procedure is medically necessary or purely cosmetic is an important consideration, and one that is not always black or white.  For instance, some parents might consider the construction of a functioning vagina in a female to be “necessary,” whereas reducing the size of the enlarged clitoris may be seen as merely “cosmetic”, and therefore they may opt for a vaginoplasty and may leave the clitoris alone.  Some may see neither procedure as being necessary in an infant, at least not before menstruation (who needs a vagina as a child?), while others might fear that the social or psychological consequences of “being different” are so great that surgical correction is truly “necessary”.  Others might argue that a procedure need not be “necessary” in the strictest sense to be beneficial and desirable. 

Most would agree that conditions that threaten health, such as a blockage or other anomalies causing urine to reflux (back up) into the bladder or the kidneys, need to be repaired. 

In the absence of such a condition, however, the decision about if and when to have surgery can be made without time pressure or pressure from others.  Surgical decisions can be reached by your family, or your family along with your child, depending upon her age.  Each family and child is different, so the decision will depend on the family’s individual response.  Do not rush to make a decision when it comes to surgery.  Be sure to weigh carefully all facts, testimonies and resources that are available to you before arriving at a conclusion.  Remember that once you have opted for a surgical procedure, it will not be reversible. 

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How do I choose a Pediatric Urologic Surgeon?
CARES Foundation, Inc. believes that the skill and experience of the pediatric urologic  surgeon is of foremost importance.  The 2002 CAH Consensus Statement from Lawson Wilkins Pediatric Endocrine Society and the European Society for Pediatric Endocrinology states that surgery “should only be performed in centers with significant experience,” and further defines this as “a center with experience of at least 3-4 cases/year.”  This often means that you may have difficulty finding a surgeon with the requisite experience in your state given the rarity of the disease.  There are only a few centers in the US that will meet these criterions.

The surgeon should be willing to answer all your questions and to let you know exactly how many CAH reconstruction surgeries he/she performs each year.  If his or her answers seem evasive or vague, i.e. “I’ve done several” or “a few”, press for a more specific answers to your question.  Don’t be afraid to ask for “before and after” pictures and to speak to parents of the girls they have operated on. 

The responses to your inquiries should give you a pretty good idea of whether you wish to your daughter in the hands of that particular surgeon.  It is always wise to “shop” for a qualified doctor.  Remember, a good physician will never resent your seeking a second opinion. 

CARES Foundation, Inc.  can provide you with a list of pediatric urologic surgeons who are experienced with these types of surgeries.  This is not to suggest that they are the only qualified surgeons, but they are surgeons who expertise is recognized by CARES.  It is important that you select a surgeon that you and your daughter will be happy with- you’re likely to have a relationship for many years to come.

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When should surgery be performed?
The decision of when to have surgery can be one of the hardest.  How can we be sure that we are doing the right thing?  There is no “right decision”.   There is only what is right for you and your daughter.  Gather as much information as you can, and work to make the best decision you can.

The 2002 CAH Consensus Statement states, “[b]ased on recent clinical experience, the recommended time for surgery is at 2-6 months, although this is not universal practice.  It is important to note that surgery at this stage is technically easier than at later stages.” “Technically easier,” refers to how “easy” it is for the surgeon and to the benefits of faster healing in babies. Very young children tend to heal faster following surgery, and the surgery is easier because the area disturbed is smaller. Also, following surgery, babies not yet walking, crawling or standing are less likely to pull stitches out with their movement. 


The Consensus Statement on Management of Intersex Disorders (Hughes, et als, 2006), states:

“There is inadequate evidence currently in relation to establishment of functional anatomy, to abandon the practice of early separation of the vagina and urethra. The rationale for early reconstruction is based on guidelines on the timing of genital surgery from the American Academy of Pediatrics (AAP), the beneficial effects of estrogen on tissue in early infancy and the avoidance of potential complications from the connection between the urinary tract and peritoneum via the Fallopian tubes. It is anticipated that surgical reconstruction in infancy will need to be refined at the time of puberty”.

With that said, it is most important that you, as parents, have had the time to gather all of the information about surgery, have full informed consent, have the appropriate insurance issues worked out, have chosen an experienced, expert surgeon and that the child is medically well controlled.  This genital reconstructive surgery is only occasionally necessary in a strictly medical sense (obstruction, infections) in early childhood, so you must feel comfortable with this decision.

However, the CAH Consensus Statement notes, “Surgery between the age of 12 months and adolescence is not recommended in the absence of complications causing medical problems.” The basis for this statement and the choice of 12 months as the cut-off is not clear. CARES Medical Advisors have recommended that surgery, if to be done in childhood, is best done prior to toilet training due to regression in toilet training following surgery. It is also recommended that no surgery be done between the years age 2 ½-3 and adolescence due to increased risk of noticeable psychological stress in the child following surgery due to separation from parents and the hospital experience. Hence it is CARES’ recommendation that surgery be done before toilet training (or before age 2-1/2) or postponed until adolescence in the absence of medical complications.

surgery positions
Surgical Positions for Reconstruction (courtesy RC Rink)

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How do Adult Women with CAH Feel about the Timing of Surgery?
Some adult women with CAH recommend that parents wait and allow the child to make the decision as an adult.  Some adult women with CAH recommend that parents wait until the child is old enough to be consulted about her desires for surgical reconstruction. Others are grateful that their parents made the decision for them early in life and that they did not have to deal with growing up with genital anomalies. 

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Will my child require additional procedures?
With infant vaginoplasty, an additional outpatient surgery to remove scar tissue in the vagina may be necessary in the teen years.  However, complications from surgery can occur whether the procedure was done as an infant or teen and may occur even with the most experienced surgeons, requiring additional surgeries to correct these complications. Using an experienced surgeon can minimize this risk factor. Hence the choice of surgeon is key.

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What are the differences among reduction clitoroplasty, vaginoplasty and labioplasty?
Genital reconstruction in CAH generally involves three separate procedures. These are often done at the same time when early surgery is chosen. 

Clitoral reduction surgery (clitoroplasty) involves reducing the size of the clitoris by removing a portion of the erectile tissue.  If done properly, the nerve bundles are preserved and left intact.  The CAH Consensus Statement states that, “[s]urgery to reduce the clitoral size requires careful consideration.  Total removal of the clitoris should never be performed.  If clitoral reduction is elected, it is crucial to preserve the neurovascular bundle, the glans, and the preputial skin related to the glans.”

Vaginoplasty involves rebuilding the vaginal area to improve functioning of the vagina and urethra.  This involves creating a vaginal opening on the perineum separate from the urethra. It is often done by moving the recessed vagina out to the perineum or can include complete separation of the vagina from urethra at the site of confluence.

Confluence in CAH: where the urethra and vagina meet
Confluence in CAH: where the urethra and vagina meet. (courtesy RC Rink)

Labioplasty is the construction of the labia majora and/or minora when absent or inadequate. Most children with CAH are lacking labia minora so they are created. The labia majora , while present often require repositioning.

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How do I determine what procedure(s) my daughter needs?
There is no absolute answer to this question.  This is  usually determined by the degree of virilization and your feelings about the subject.

The Prader Scale levels along with physical and internal examination can help determine your child’s needs.  Many parents of severely virilized girls with Prader Scale levels 3+ opt for early clitoroplasty to reduce the child’s psychological stress over physical differences in childhood.  Using an expert surgeon for this procedure is crucial, since the clitoral tissue is very sensitive and easily damaged.  While it is difficult to imagine your little baby as a grown woman, it is important to keep in mind that if done incorrectly, there could be a loss of sexual sensation later on. Also, even with the most expert surgeons, there is a risk of some loss of sexual sensation.

The Consensus Statement on Management of Intersex Disorders (Hughes, et als, 2006), states:

“The surgeon has a responsibility to outline the surgical sequence and subsequent consequences from infancy to adulthood. Only surgeons with expertise in the care of children and specific training in the surgery of DSD should perform these procedures. Parents now appear to be less inclined to choose surgery for less severe clitoromegaly. Surgery should only be considered in cases of severe virilization (Prader III, IV and V) and be performed in conjunction, when appropriate, with repair of the common urogenital sinus. As orgasmic function and erectile sensation may be disturbed by clitoral surgery, the surgical procedure should be anatomically based to preserve erectile function and the innervation of the clitoris. Emphasis is on functional outcome, rather than a strictly cosmetic appearance. It is generally felt that surgery that is performed for cosmetic reasons in the first year of life relieves parental distress and improves attachment between the child and the parents. The systematic evidence for this belief is lacking.”

Hence, clitoroplasty should not be performed on mildly virilized girls—those whose virilization is below Prader 3.

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Can vaginoplasty be done without clitoroplasty?
Yes.  Many parents of lesser virilized girls decide to leave the clitoris alone yet decide to have early vaginoplasty and labioplasty. 

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When is vaginoplasty appropriate?
When the vagina, because of internal fusion with the urethra (common urogenital sinus), does not extend all the way to the perineum (the front of the body), urine may pool in the vagina or backflow into the bladder where it can cause infection and discomfort.  In addition, in some girls, the common urogenital sinus may be inadequate for the flow of menstrual blood.  Therefore, vaginoplasty is often performed in these girls to avoid backup of the menstrual flow, discomfort and possible infections.

possibl backflow problems
Possible Backflow Problems (courtesy RC Rink)

After vaginoplasty, the vagina may stricture (become very tight) or stay the size it was originally constructed but this can be dealt with later when the girls are ready for the use of tampons or before sexual intercourse. Vaginal dilation must NOT be performed on prepubertal girls by parents and should be delayed until the girls are ready to dilate themselves. The Consensus Statement on Management of Intersex Disorders clearly states, “Vaginal dilatation should not be undertaken before puberty”.

In teenage girls and adults, dilator rods can be used. When the vaginal opening is large enough for a tampon, tampons can be used once a week for an hour or two to keep the vagina open.  Once the girl begins to menstruate and use tampons regularly during menstruation, the vaginal canal should remain dilated.   If the vaginal canal does not respond to dilation, an outpatient procedure to remove excess scar tissue can be performed and tampons can be used to keep the vagina open following this surgery.

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How will my daughter look after the surgery?
First ask to see some pictures of the surgeon’s work.  They will be happy to show you.  Please remember that directly after the surgery the area will appear swollen and bruised as would any surgical site of the body.  The actual results will not be seen for about six months when the swelling and bruising subside. There may be some exterior scarring, but an experienced surgeon should deliver a good cosmetic result. Functional results (loss of sexual sensation) will not be known until the girl is much older.

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What has been the outcome of previous surgeries?
There are many female adults living with CAH and the consequences of genital surgeries.  Unfortunately, there have been few studies that look at long-term follow-up of CAH reconstructive surgery.  Also, the techniques for performing both clitoroplasty and vaginoplasty have improved significantly over the years, resulting in better functional and cosmetic results. In the past, techniques used did cause significant problems for women with CAH.

Whether the outcomes of the surgeries have been positive or negative for the current group of adult women with CAH, their testimonies are powerful as well as passionate.  These women are more than willing to share their experiences with those who are want to hear them, readily offering vital information that is important to making a decision.  CARES Foundation can put you in touch with adult women who have had surgery.

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If a child’s Birth Certificate reads “male,” but she is a female, how do we change it?
Now that we have newborn screening in so many states, we hope to see a reduction in the number of female CAH babies who are mistaken for male because of virilization.  In cases where newborn screening is not available, or the gender of the baby is mistakenly indentified and recorded as “male” before the diagnosis of CAH, the birth certificate can be changed.  Contact your state’s Department of Health for instructions or call CARES and we will help you through the process.

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Should I receive any counseling by a professional who is well versed on the psychological aspects of this condition in order to make a well rounded decision?
The decision if and when to have surgery can be complicated and very stressful to parents of a newborn girl with CAH.  Many parents find it helpful to discuss the issues and challenges with a therapist who has experience in working with girls and women with CAH.  CARES urges all parents to work with a mental health professional to process the important decisions and overwhelming emotions that you experience in the early months of your child’s life. Unfortunately not all institutions have psychologists or other counselors skilled in dealing with the challenges that face these families.  There are very few therapists familiar with CAH, so CARES recommends you find a mental health professional that you feel comfortable and that the therapist reaches out to CARES for information about CAH. CARES can provide the therapist with information and consultation with an expert in the field to better help your family through the process.

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We’re scared! Can our family talk to another family who has been through this before?
Yes! The CARES Foundation, Inc. can put you in touch with some families who can offer encouragement, support and will share their experiences with you.  Of course, what works for one family will not necessarily be the best for every family.  Nevertheless, having the opportunity to talk with someone ‘who has been there’ is enormously valuable.

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Conclusion
Although it’s hard to imagine, your little baby will someday be a grown woman.  If surgery is necessary or desired, keep in mind that simply reconstructing “the look” of a normal vagina is not the whole story.  Ultimately, your daughter will need a vagina that is fully functional with regard to urination, menstruation, reproduction and sexual sensation.  That is why it is so important to do the necessary research and find that most qualified and experienced surgeon, if early surgery is chosen.  CARES can help you with resources to better weather these challenging times.  And while you face the many fears and uncertainties about life with a child who has CAH, remember that there are parents who have gone through this before.  CARES has many members who are interested in sharing their experience.  Don’t be afraid to reach out for help.  CARES Foundation and its resources are only a phone call or email away. 

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Other Related Considerations

Protecting your Child's Modesty and Privacy
As parents, you must be sensitive to your child’s privacy and modesty--especially as she grows older. Most major institutions with experienced specialists in CAH will also be “teaching” hospitals. In such an environment your doctor may feel it’s appropriate (even an obligation) to allow doctors in training-medical students, residents, fellows--to learn from her condition. Physicians do have to be trained, and remember, this is how the doctor that takes care of your daughter learned. Unfortunately, what is best for training physicians is not always best for patients-especially children. Adults with CAH often speak of the shame of being “put on display” as part of the teaching process. Though not an issue with infants, for older children this can be embarrassing, confusing, and stressful. Once you establish a relationship with a physician, probably a pediatric endocrinologist, insist that he/she be the one who follows your child routinely, and that genital exams be done only by them if possible. A fellow (specialist in training) may become part of the team, but ask that it be the same fellow at each visit and someone who is expected to be involved for several years. Open discussion with your child about her condition and the need and reason for doctor visits may help to reduce anxiety.

Your doctor may wish to take photos of your child. This could be an appropriate alternative to a parade of doctors needing to “see for themselves.” They also allow for progressive follow-up, teaching, and education of the families seeking answers. It is best if the physician take the pictures, and only after an explanation of how the pictures may be used, and sensitive reassurance given as to privacy and confidentiality. Older children should give their own consent.

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Secrecy and Shame
When adult women with CAH look back at their childhood experience, many of them report that their most painful memories revolve around a sense of secrecy and shame. Some of these women did not even know they had undergone genital surgery until they were well into adulthood. In the past, parents were often encouraged by their doctors not to discuss genital differences or surgery, to discourage questions by the child, and to keep the situation secret from extended family members. This practice stemmed from an unproven belief that focusing on genital differences might lead to ambivalence on the part of the child (or even parent) and might eventually result in an unstable gender identity.

Though perhaps well intentioned at the time, the policy was ultimately damaging-in some cases disastrous. Secrecy did not eliminate conflict or anxiety in the child; it fanned it. Children have radar for lies and deception. Silence is interpreted as shame. In the absence of light, children will invent scenarios far worse than the truth.

CARES Foundation strongly encourages families and physicians to be open and honest about all aspects of your child’s condition and medical care. Most physicians now accept that dishonesty with their patients - even children - is never ethically acceptable. Your child’s questions should be answered in an age appropriate manner (see below). If you don’t know the answer, simply tell them that-and find someone who does. Though not always easy, honesty truly is the best policy.

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How Do I Talk to My Child About Her Condition and Surgery?
Susan Baker, Ph.D.

What to tell an affected child and at what age, is a very complex question. The answer largely depends on the child’s sex, age, and the family situation, so has to be discussed and decided on a case-by-case basis. For example, some children are very curious and ask a lot about their medical condition, why they have to go to the doctor, get tests and so on when their siblings don’t. Such questions should always be fully and honestly answered in age appropriate ways.

A special case with respect to information is that of young girls who have had genital surgery. Most young girls won't have the background information to ask or wonder about the early surgery, (unless they had a poor genitoplasty) to ask, for example, why they look different in their genital area than their sisters. In such cases it is usually best to wait until the child's own questions and resulting increasing knowledge about their medical condition lead up naturally to their learning about the early surgery. If information is given at the right pace this usually occurs at or near the teen years, a time when most girls have learned discretion, and when many may need to be fully informed so as to partake in the decision whether to have or defer vaginoplasty if it wasn’t done in infancy. (If the child doesn't ask, one can egg her [or him on non surgical issues] on to start doing so with questions like, "How come you never asked why you have to see the doctor every so many months?" and so on.)

For a young teen to understand having had the surgery (and maybe the need for a vaginoplasty, which they will need to think and make decisions about), they need to have a pretty good basic understanding of CAH. I usually do this with our patients starting at age 5 to 7, seeing the child every year or so, again varying with the child’s temperament and family. I meet with the child alone, then finish by asking the child if she would be willing for us to meet with her parents and for her to tell them what we talked about, with me to help if she gets stuck. That way everyone walks away knowing what was discussed, and is able to discuss it at home. It also gives me a check on whether the child had a misunderstanding of anything we talked about. Telling too young children who don't have such a background about surgery can be scary for them, and leave them feeling frightened and confused. Also telling them before they have a sense of the consequences if they talk about what they have learned to other children without using discretion can cause another set of problems.

It is most important for parents to be open to informing their children as the children grow. Parents with a classical CAH affected child, particularly parents of an affected daughter with a genital birth defect often feel traumatized long after the birth and sex determination. Sometimes this leads them to not want to tell their children anything, feeling that their children will feel the same trauma. When this happens to the parents, the parents unwittingly pass on to the child the sense that there IS something wrong, but it is something too awful and scary to ask or talk about. These children later grow up to feel, among other things, that there is a failure of trust between them and their parents, and that they were lied to by parents and doctors alike.

"I'm not sure of the answer to that, let me call the doctor and find out?” even if you just need to buy a little time to think over your response to a tricky question. But you must get back and answer the question, in an age appropriate way. If the child never asks questions, parents have to ask themselves if they have been sending subtle messages to the child that she (this occurs more often with girls for the reasons mentioned above) had better not ask any questions about what she has, why she goes to the doctor, why she has blood tests frequently, why she has to take medication, and so on. If this occurs it is a signal that it is time to get experienced professional help.

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