Frequently Asked Questions
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 by clicking the search icon in the upper right corner. If you still have questions, please feel free to submit a question to our resident medical expert on our Ask the Expert page.
To learn more about newborn screening, please visit our webpage “What is Newborn Screening?”
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.
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.
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.
Signs of impending 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.
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:
- Get your daily recommended amounts of calcium and vitamin D
- Engage in regular weight-bearing exercises
- Avoid smoking and excess alcohol
- Talk to your doctor about bone health
- 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
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.
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.
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.
You should have a buddy—your roommate 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
To assist parents in this process, CARES Foundation has created a Getting Ready for School/Camp packet that you may find useful.
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
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.
Medic Alert Foundation International
Cody Cares ID, Inc. (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
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.
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.
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.
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.
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.