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Frequently Asked Questions: Congenital Adrenal Hyperplasia

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Frequently Asked Questions/Ask the Expert

This page contains questions frequently asked about living with CAH, its diagnosis and treatment. If you cannot find the answer to your question here, please try searching our website using the Search box in the left-hand navigation bar and visiting the Ask the Expert section of our blog. If you still have questions, please feel free to submit your question to our resident medical expert via our Ask the Expert form.

Newly Diagnosed

Medications

Doctor's visits

Daily Life

School

Sports

Men

Women

Starting a Family

Insurance

Newly Diagnosed

My child was just picked up from newborn screening, what do I do now?
When a child is “picked up” with an abnormal newborn screening result, immediate medical attention is required.  In some states, when an abnormal 17-OHP level is detected by newborn screening laboratories, the child’s pediatrician and local pediatric subspecialists are immediately notified.  Public health workers may also contact the family.  This is a “three-pronged” approach that helps to ensure that the severely affected child, who is in danger of suffering a salt-wasting crisis, is promptly evaluated and treated as soon as possible after an abnormal test result is obtained.

To learn more about newborn screening, please visit our webpage "What is Newborn Screening?"

For information on ordering medical alert identification, see "When ordering medical alert identification what should I have written on it?" in the Daily Life section of these FAQs.

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Do you have any tips on how to give the medication while still breastfeeding?
Try softening the pill with a little water or juice and giving it to your baby with a soft baby spoon, oral medication syringe or baby nipple to be sure your baby is getting the full dose.  Some parents like to nurse immediately thereafter.  When your baby is older, you can crush the pill and put it in a spoonful of applesauce or pudding or something else your baby likes.

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Medications

My child is on (insert medication name), but I hear other parents saying their child is taking (insert other medication), how do I know my child is on the right medication? Should I ask my doctor about switching?
The three medications used to treat CAH are of different potencies and duration of action.  All three medications can be used successfully, as long as doses are carefully titrated to your child’s needs and your child is closely monitored. It is also important that the treating physician be familiar with, and has had demonstrated success with, the medication being prescribed as a child can quickly become over-treated or under-treated if not on the right dose. 

Before thinking about switching, you should consider how your child is doing on his current medication.  If your child is doing well, there is no reason to switch simply because another child is taking a different drug.  However, if non-compliance or fast metabolism is a problem, your child might benefit from a longer-acting medication.  Likewise, if overtreatment in spite of very small doses is a problem, your child might benefit from a shorter-acting medication.  Speak to your physician about the pros and cons.

More information on Medication Dosing can be found in the Treatment & Monitoring section of this website.

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We have our hydrocortisone compounded, is that okay?
Many doctors feel that this practice should be avoided because hydrocortisone does not dissolve easily in liquids.

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Sometimes I skip or forget my medications but, somehow, I don’t go into crisis. Why is this? What are the risks?
Missing doses is not a good idea. Missing doses can lead to serious health problems. While it appears that some adults with SWCAH may produce some aldosterone, allowing them to live without going into adrenal crisis, they may feel quite poorly, will be unable to deal with the stress of common illnesses, and women will develop significant masculinization. Women who stop treatment can masculinize very quickly, developing facial hair, changing body shape, and developing male pattern balding. They can also lose fertility and it may become impossible to become pregnant. Males can also develop testicular tumors and lose the ability to make sperm. So, although you might be able to live, you can be causing long-term and permanent changes in your body and in your fertility.

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I’ve recently gained a lot of weight following a change in my medicine.  Is this normal? What does it mean?
The over-treatment with high doses of glucocorticoids can cause weight gain.    Over-treatment can cause unevenly distributed weight gain around the face (moon face appearance) or back of the neck (fat pad formation known as a “buffalo hump”).  The problem many individuals with CAH have is finding the balance for good treatment. In the treatment of CAH, there is a fine line between the over and moderate dosage for good control. 

Signs of over-treatment:  Rapid weight gain, large appetite, round or “moon” face, excessive hair on back, sleeplessness, slow growth in height, “buffalo hump” at back of neck, striae (stretch marks) along abdomen, headache.

Signs of under-treatment: tiredness or fatigue, headache, loss of appetite, loss of weight, moodiness, acne, excessive tan appearance.  In children (in addition to the previous): premature development of pubic hair, underarm hair, underarm odor, progressive genital development, rapid growth.

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How do I know if my child needs a stress dose?
Stress doses of glucocorticoids are needed in situations that would normally trigger your adrenal glands to release more-than-normal amounts of cortisol.  These include infection resulting in fever, surgery requiring general anesthesia, and major physical trauma resulting in fracture or severe bleeding.

Stress doses are not needed for minor illnesses such as common colds, or for minor cuts and abrasions.  Stress doses are also not needed for physical activity or exercise, or emotional distress.

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Do I need to stress dose before vaccinations?
Your child can safely get all routine childhood vaccinations.  However, if a fever develops following a vaccination, oral stress doses should be given until the fever is gone.

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When do I need to give “the shot?”
If your child becomes increasingly ill, in spite of being stress-dosed, then they may not be getting enough glucocorticoid medication, or not absorbing the medication quickly enough.  In that case, doctors recommend the injection.

Signs impending of adrenal crisis include being excessively tired, sleepy, dizzy or confused.  Your child may also be pale and sweaty and have signs of dehydration such as dry lips and infrequent urination.

Please visit our webpage During Illness and Emergency for further details on adrenal crisis.

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Doctor's Visits

How often do I need to see my Endocrinologist?
It is recommended that adults with CAH be seen 1 to 2 times a year or as recommended by your endocrinologist.

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What tests should my doctor be running?
Monitoring treatment by a doctor is very important.  Blood testing is the best way to monitor CAH treatment.  Several hormones are measured - 17-OHP, androstenedione, and testosterone.  For salt-wasters, rennin levels are also checked. Results from these tests can tell your doctor whether your treatment is adequate.  Other tests, such as bone scans and testicular ultrasounds can also be administered if the doctor deems them useful. 

To learn more, please visit our webpages detailing monitoring of CAH in children, teens and young adults, and adults as well as information on genetic testing.

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Am I at an increased risk for osteoporosis?  What should I be doing?
Bone Density in CAH: Osteoporosis is an understandable concern for adults with CAH who are steroid-dependent and have been treated for a long time.  It is known that glucocorticoid therapy inhibits bone building activity which could potentially lead to decreased bone density. This is of particular concern to individuals who were treated with higher doses of steroids and whose 17-OHP levels were kept in the normal ranges for non-CAH affected individuals (signaling over-suppression) for extended periods of time. If there is evidence of glucocorticoid over-treatment, a baseline bone density measurement and subsequent monitoring may be warranted in the young adult. In the absence of evidence of over-treatment, it is recommended that women over the age of 30 and men over the age of 40 consider annual bone density measurements.  Fortunately, medications are now available to stop and reverse bone loss due to glucocorticoid therapy.

For more information, visit our webpage on Monitoring of Adults with CAH.

Listed are five steps for better bone health by the National Osteoporosis Organization
1.  Get your daily recommended amounts of calcium and vitamin D
2.  Engage in regular weight-bearing exercises
3.  Avoid smoking and excess alcohol
4.  Talk to your doctor about bone health
5.  Have a bone density test and take medication when appropriate

Many people take calcium supplements when they are unable to get adequate calcium from their diet. This can be helpful for those with CAH as well. The daily amount of calcium required by age is shown on this website: http://www.osteoporosis.ca/english/About%20Osteoporosis/
Nutrition/Calcium%20Requirements/default.asp?s=1

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I need to have minor surgery. Is there anything special that needs to be done?
Yes. You will need to be stress dosed before, during and after surgery. Your endocrinologist must consult with your surgeon and anesthesiologist before the surgery to make sure that you are adequately covered with additional glucocorticoids and monitored.

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Daily Life

When ordering medical alert identification what should I have written on it?
CARES Foundation recommends getting some type of medical identification to wear or carry at all times.  As more and more states adopt protocols for emergency medical treatment of CAH, it is of vital importance that the specific words “adrenal insufficiency” appear on the first line of medical alert identification worn by individuals affected by CAH.  

EMS crew members come from a wide variety of experiences, and may have little medical knowledge beyond that which they use every day in the field.  They may be unable to interpret some of the diagnoses listed on the medical alert identification.  For this reason, using the standard phrase “adrenal insufficiency” is key to immediate, appropriate, emergency medical treatment.

Subsequently, you can consider listing the specific diagnosis “congenital adrenal hyperplasia” or health status “cortisone dependent” or even “treat with hydrocortisone.” 

Finally, CARES Foundation has been advised by EMS that it is very difficult to determine the age of an individual “in the field.”  A DOB (date of birth) designation on medical alert identification will go a long way in assisting responders.

If you have any questions as to what information you should put on your or your child’s medical alert identification, CARES Foundation encourages you to discuss this with your endocrinologist.  At a minimum, however, "adrenal insufficiency" should be on the identification and it should come first.

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How do I explain CAH to my child and when should I do it?
Since CAH is a life-long condition and responsibility for treatment will one day revert to the child, it is probably a good idea for you to discuss as much as you feel your child can handle and comprehend from an early age.  An illustrated medical encyclopedia showing the basic body parts and the location of the adrenal glands can be helpful when doing this.

You should encourage your child to ask questions and let them set the pace.  The specifics of what and when to tell a child are a judgment call that each parent must make for themselves.  It is best to speak matter-of-factly and to be straight forward with the answers.

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How do I explain CAH to my girlfriend/boyfriend?
You are not your disorder! You may decide that you feel comfortable sharing your medical information with a boyfriend/girlfriend. You may merely say that you have “adrenal insufficiency” and need to take medications.   This term is enough to get you the treatment you need and protect your health anonymity if you so desire.

If there is someone that you would like to tell about CAH, make sure you are comfortable with them.  It is completely up to you on how much information you would like to share. 

One topic that may come up is the “intersex” issue.  Many people in society want to classify CAH as an intersexed condition.  Individuals with CAH are not intersexed.  The medical community is moving to the use of the term Disorders of Sex Development to describe babies born with genital birth defects. Internally, women with CAH have all the female reproductive organs.  A missing enzyme that affects the adrenal glands leads to an overproduction of androgens which can cause urogenital anomalies. Women with CAH are not born with both male and female genitalia. This statement is an erroneous. It is important that you understand the disorder and its effects before trying to explain it to another.

For women, if you are about to embark on a sexual relationship, you may want to talk to your partner about your surgical history. This is particularly true if you experience pain or vaginal narrowing making sex more difficult.  In a loving relationship, you and partner can work together to overcome these obstacles and allow you to have satisfying sexual experiences. Interestingly, some women have never told their spouses about their surgical reconstruction and their husbands never suspected that anything was different. This is due to the variations in “normal” with women who do not have CAH. So, try not to worry too much that your genitals look “different” to a partner.

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I’m turning 21. Can I go out and drink alcohol like everyone else?
Yes and no.  Consuming enough alcohol to the point that you become intoxicated is not a great idea for individuals with CAH, especially salt wasters.  This state creates a tremendous amount of stress on your body that can lead to adrenal crisis.  Sometimes, getting drunk can lead to throwing up.  Vomiting causes the body to become severely dehydrated. Severe dehydration is very harmful to a person with CAH. 

You should have a buddy—your room mate or another good and trusted friend. Tell this friend about your medical condition (women—you don’t’ have to tell all—just explain that you have adrenal insufficiency), teach them the warning signs of adrenal crisis and necessary emergency protocol. Should you become drunk and dehydrated, your buddy will be there to give you electrolyte drinks and the Solu-Cortef injection if needed.

If you are of age to drink, drinking a beer or two with friends shouldn’t be a problem.  Many individuals with CAH who are of legal age to drink alcohol have recommended taking extra medication before going out or keeping a 1:1 ratio of beer to water during the course of the evening. It’s important to know your body.   If an individual with CAH runs into a problem with drinking too much to the point of getting “drunk,” emergency procedures might need to be taken.  Make sure your buddy is available to give you electrolyte drinks and the Solu-Cortef shot if needed.

Signs of intoxication:
http://www.webmd.com/mental-health/alcohol-abuse/alcohol-intoxication

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School

Can I send my child to daycare?
There is no reason why a child with CAH cannot go to daycare.  But, prior to enrolling your child, you should clearly explain your child’s medical condition to the staff and determine the center’s policy for administering medication.  It is best to be matter-of-fact and non-alarmist.  At the same time that the seriousness of the condition should be conveyed, it is also important to stress that the condition is very manageable and true emergency situations are unlikely to occur on a regular basis.   Once enrolled, you should provide the center with a set of simple written instructions, including the names and numbers of all emergency contacts.

To assist parents in this process, CARES Foundation has created a Getting Ready for School/Camp packet that you may find useful.

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What do I do when my child starts school?
Your child’s teachers and school nurse should know that your child has CAH and that children with CAH are at risk of circulatory collapse with illness and severe trauma.  It is suggested that parents meet with school staff every year to go over the precautions that need to be taken if the child becomes ill at school.

Further information regarding getting ready for school can be found on our webpage Getting Ready for School. Also, to assist parents in this process, CARES Foundation has created a Getting Ready for School/Camp Packet including:

  • Getting Ready for School/Camp Parent Tips
  • Medical Information - Sample Letter (aka doctor’s note)
  • Medical Supply Kit Checklist
  • What is a 504 Plan and How Can it Help My Child?
  • 504 Accommodation Plan Request – Sample Letter
  • Health Plan Worksheet
  • Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency: A guide for affected individuals and their families
  • CARES Foundation Emergency Instructions brochure

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I am going away to college.  What do I need to do?
Before you go off to college or move out of your parents’ home on your own, there are several steps you need to take to be properly prepared.  

Have a thorough understanding of your condition and health history: Before heading out on your own, you need to be ready to assume full responsibility for your healthcare when you are on your own.  You should know why you take medication, what to do if you don’t feel well, how to continue your yearly checkups, and what to do in the case of an emergency.  Ask your doctor for copies of your medical records and read them. Ask your parents to explain what they remember about your health history. For young women with classical CAH, this may be a difficult conversation when discussing your surgical history. Be prepared to have some complex feelings and to seek support if those feelings become overwhelming.

Notify Campus health center: The campus health center should have an understanding of your condition in case of an emergency.  If you do not want your medical condition to be known specifically (CAH), a good substitute name is “Adrenal Insufficiency.”  All medical staff should have a basic understanding of this and its treatment. 

College Health Insurance:  A list of things you need to know is available at:
 http://www.healthcarecoach.com/resources/index.php?view=detail&id=78&node=10

Medical Identification: CARES recommends getting some type of medical identification to wear or carry at all times.  Many adults with CAH have either a necklace or a bracelet that has the medical alert symbol as well as the words “adrenal insufficiency, cortisone dependent” on it.  All health emergency personnel are trained to look for this symbol in the case of an emergency.  This can save your life!

A wallet/purse card can also be used.  These cards can give specific information that can allow quick response in case of an emergency.  The only problem with having a medic card is the chance of the individual not having their wallet or purse on them.  This could be dangerous.  CARES Foundation has these cards available upon request. 

Medical Identification:
Medic Alert Foundation International
http://www.medicalert.com

N Style ID:
www.nstyleid.com

Cody Cares ID, Inc.
http://www.codycaresid.com (10% goes to CARES)
 
Know how to give an emergency injection if needed:
It’s very important that you understand how and when to give yourself a Solu-Cortef injection in case of an emergency.  Be sure to keep electrolyte drinks available in your dorm room.  In the meantime, check out this patient informational page:
www.cc.nih.gov/ccc/patient_education/pepubs/mngadrins.pdf

Another good resource: http://www.youngwomenshealth.org/impact.html

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Sports

Is my child limited from participating in any activities? Sports?
Your child should be able to participate in all normal activities including sports and athletics.  You’ll just need to make sure they are up-to-date with all medications and have access to quick sources of energy and plenty of fluids.

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Men

My doctor told me I have tumors on my testicles.  What does this mean?
Testicular adrenal rest tumors have been found in a large percentage of men with CAH.  During development in the womb, bits of adrenal cells can migrate into the testicles. These are called adrenal rests. These adrenal cells can grow causing testicular masses which can enlarge the testicles and crowd out the sperm producing tissue in the testicles.   These enlargements are typically not malignant (cancerous), but they can lead to infertility problems. Suppressive glucocorticoid treatment usually reduces the size of the tumors and thereby improves sperm production. Fertility issues often disappear, but it may take a few months after treatment begins. Very large tumors may need to be removed. 

Men should examine their testicles regularly for lumps and tell your doctor if you find a lump on your testicle. Regular ultrasounds can help to monitor the development of testicular tumors.

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Women

The hair on my face/chin is really starting to bother me, what can I do about it?
 In women with CAH, excess androgens can cause excess hair growth.  These excess androgens may be coming from the adrenal glands or the ovaries.  CAH can lead to women developing a polycystic ovarian syndrome-like ovarian dysfunction.  This condition can cause symptoms similar to those from CAH.
The first step is to make sure that your hormone levels are maintained. Excess hair growth is often a problem despite good hormonal control.  Additional medications, like spironolactone or oral contraceptives, may be helpful. 

Hair removal methods include bleaching, shaving, plucking, depilatory cream, Vaniqa, waxing, electrolysis, or laser treatments are also recommended. 

For more information visit our webpage on Hirsutism, Hairloss and CAH.

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I think I need another Genital Surgery and don’t know where to go as an adult?
Vaginal Stenosis: First of all, make sure you have tried all non-surgical solutions to vaginal stenosis like dilation before seeking surgical intervention. Instructions for dilation: http://www.youngwomenshealth.org/instructions.html   Some women find that use of a vibrator helps the dilation process.

Vaginal surgery may be needed to open the vaginal canal and allow for intercourse. This is typically a simple, often out-patient procedure. Once open, using extra large tampons will keep it open. Additional surgery may cause some loss of sexual sensation. There are a handful of surgeons with experience in helping adult women with CAH. CARES can help with the physician referral.

Clitoral recession: Many women underwent the procedure called clitoral recession where the enlarged clitoris was surgically tucked behind the pubic bone, making arousal painful. This can be repaired and restore sexual function.

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I have heard that many women with classical CAH are lesbians. Is this true?
Indeed some women with CAH are lesbians, but the vast majority are heterosexual. The incidence of homosexuality in females with CAH appears to be slightly higher than in the general, non-CAH, population. It is not known why there is a higher incidence. Some hypotheses include the androgen impact on the brain and surgical and medical trauma that makes women feel less comfortable with men. If you feel that you may be lesbian, you may need some counseling to help you talk to your parents and friends. It is okay and you are not alone.
http://www.youngwomenshealth.org/lesbianhealth.html

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Family

My husband/wife and I want to start a family, what should we be thinking about?
Within the last ten years, optimizing treatment has allowed more women with CAH to get pregnant. Listed are some of the things a husband/wife need to be thinking on their journey to starting a family… 

Good control: In order for a woman with CAH to get pregnant, her adrenal hormones need to be adequately controlled.  High adrenal hormones can make it very difficult for women to get pregnant.  This also applies to the male.  Adequate control leads to low possibility of adrenal rest tissue or testicular growths.  Studies show that it is much harder for women with salt-wasting CAH to get pregnant.  A good endocrinologist is of even greater importance in this situation.  Read the attached links for more information on reproductive issues: Reproduction Issues for Women with CAH and Fertility Issues for Men with CAH.
 
Genetic testing/counseling:   Genetic testing/counseling by your doctor can be beneficial, but it must be completed BEFORE becoming pregnant. The chances of having an affected child are quite slim, but nevertheless, the risk exists and some adults with CAH do have children with both classical and nonclassical CAH. If your spouse is a carrier of a classical CAH gene mutation, then prenatal treatment may be an option. THIS IS NOT AN OPTION UNLESS YOUR SPOUSE IS A CARRIER! If you and your spouse have not undergone genetic testing, prenatal treatment is not appropriate.  There are risks to mother and child; please visit Prenatal Treatment of Congenital Adrenal Hyperplasia to learn more.

The timing of prenatal treatment is very important. It must be started by week 7 of pregnancy in order to be effective.  Dexamethasone crosses the placenta. If a woman with CAH becomes pregnant, prednisone or hydrocortisone do not cross the placenta, so those are the preferred glucocorticoid. Dex should only be taken during pregnancy for the purposes of prenatal treatment.

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Insurance

I am graduating from college/aging out of my parents’ insurance plan, is there anything I can do?
Many young adults between the ages of 19-29 are uninsured.  Here are some options for individuals that fall within this age group…

Consider Student Health insurance: Most Universities offer health insurance plans for their students and may extend it to their alumni. 

Stay on family health plan:  Many states are upping the age requirement for individuals to stay on family health plans to 30 years of age.  This is a great option for those who have a chronic disease.  This option varies by state.

Look for youth plans:  Some states allow individuals to create plans based on age.  The name of a youth plan most widely used is Tonik.

Group insurance plan: Join a group insurance plan and pay less than you would if you had individual insurance.   You can get group insurance through various associations (often college alumni associations) and trade organizations.   

Apply for public health insurance:  State health insurance and government subsidiary programs are available.  The ability to qualify for these programs varies dramatically from state to state.  Some states will supply coverage, but this is rare. Often there must be a secondary health problem that allows you to qualify for Federal Disability. This option is rarely available for those with CAH.   Because many individual health insurance plans do not cover pre-existing conditions, many individuals are pointed to public health insurance programs.  Check individual state health websites to find out their plans.  CARES Foundation also has information within their website. 

Individual health plans:  These plans are good for short term use.  Many insurance companies exclude pre-existing conditions such as CAH or require a waiting period of 6 months or a year before coverage is available.  If an individual is approved, these plans can be very expensive or they may not cover enough of what individuals with CAH need.

Extend the insurance you have already:  Individuals on certain plans, such as their parents’ plan, can extend their plans up to 18 months under a federal law called COBRA.  Initially, it can be expensive to maintain, but it does have the benefit of helping young adults find insurance once the plan is up. 

Take a part-time job that offers health insurance: If you are self-employed or starting your own business, look for a part-time job at one of the major retailers that offers health insurance benefits for their part-time staff. Examples are Starbucks and Target.

Try a Public or County Clinic: Some clinics have endocrinologists on staff and others may have a referral system. These clinics charge people on a sliding scale according to ability to pay. 

Apply for Charity Care through a major hospital medical center: The requirements and availability of these programs varies from state to state; however, this can be a wonderful option. Often these programs will include both office visits and lab work.

Ask your doctor to treat you at a reduced rate: Some doctors, particularly ones that have treated you for a long time, may be able to work with your reduced ability to pay.

Some laboratories have patient assistance programs: Often, the office visit is not the main expense in monitoring your condition: it is the laboratory work that can run in the thousands of dollars each time. Quest Diagnostics has a patient assistance program for those with reduced ability to pay that works quite well. LabCorp (Esoterix) is working on putting together a patient assistance program and may make accommodations on a one-on-one basis.

Enroll in a clinical trial for CAH: This may be an option for care if you have an interest in supporting science and the individual clinical trial considered is an appropriate option for you. For example, The CAH Natural History Trial in Bethesda Maryland at the NIH will give you a thorough work-up. Some clinical trials even provide a stipend for participating. Please read Clinical Trial Participation Considerations. Information about enrolling in clinical trials is available at www.clinicaltrials.gov and the CARES Foundation website.

No matter what, you must be monitored and should not go more than one year without seeing a doctor!

Some information above was found at: http://www.healthcarecoach.com/resources/index.php?view=detail&id=508&node=10

Related webpages of interest include: Dealing with Insurance/Managed Care and Healthcare Resources and Insurance Resources.

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