Rare Disease Roadmap: Classic CAH
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- Rare Disease Roadmap: Classic CAH
Journey Overview
Congenital adrenal hyperplasia (CAH) is a group of genetic disorders that affect the adrenal glands, hormone-producing glands located on top of the kidneys. Classic CAH is the less common and generally more serious type of CAH. It is typically diagnosed with a blood test shortly after a person is born. Depending on the type of classic CAH a person has, the condition can affect normal growth and sexual development, and it can cause severe illness due to low levels of sodium. If you or a loved one is living with classic CAH, this guide provides information to help you better understand the healthcare providers that you will work with, the questions you should be asking at appointments, and how CAH can be managed.
Your Multidisciplinary Team
People who are living with classic CAH will work with a team of healthcare providers with different specialties. This team can include:
Endocrinologist
People with CAH will be referred to an endocrinologist. This is a medical doctor that specializes in the diagnosis and treatment of conditions that affect the body’s endocrine system, the glands and organs that produce hormones. A pediatric endocrinologist specializes in the treatment of endocrine disorders in children and adolescents.
Medical Geneticist
All types of CAH are caused by mutations in genes that a person inherits from their biological parents. A team may include a geneticist, a medical doctor who specializes in diagnosing and treating conditions caused by gene mutations. It may also include genetic counseling to help families with CAH understand the risk of passing the condition to a child.
Primary Care
People of all ages with classic CAH are at risk for health emergencies and may require additional precautions when they are sick or injured. They also require the same routine healthcare and screenings that everyone requires. These aspects of treatment will often be overseen by a primary care provider, and for children and adolescents, a pediatrician.
Additional Team Members
A multidisciplinary team can include various other healthcare providers depending on the needs of the person being treated. This can include a urologic surgeon if surgery is recommended. It can also include mental health professionals, social workers, pharmacists, fertility experts, and specialty care nurses.
Treatment for Classic CAH
- CAH requires lifelong management. With treatment, people with classic CAH can lead normal and fulfilling lives.
- Classic CAH causes an imbalance of hormones, and treatment involves taking daily medications to correct and restore the balance of hormones.
- Regular exams and blood work are required to make sure hormone levels are balanced, to check for side effects, and to monitor normal growth and development in children and adolescents.
- People with CAH are advised to wear medical alert identification (usually a bracelet or necklace).
Your best source of information about treatment and management will be your healthcare team. Work with your providers to understand what treatment options are available, how to prepare for emergencies, and how treatment can change over time.
The Conversation: Questions for Your Healthcare Team
People with classic CAH will require regular healthcare appointments. Good communication with a healthcare team is essential to successfully managing CAH and getting the best care possible. Use these strategies for making the most of your appointments:
Go to your appointments prepared:
- Make a list of any questions or concerns you have. Prioritize which ones are most important for this appointment. You’ll want to cover those topics first.
- Questions about how CAH is inherited and how it may impact other members of your family
- Questions about anything you do not understand, such as the name of a drug, hormone, or diagnostic test
- Questions regarding options for addressing atypical genitalia and any related clinical issues.
- Find out what needs to be done to prepare for the appointment, for example:
- Any instructions you need to follow before a diagnostic test
- Any paperwork that the healthcare provider needs
- How long you will be at the appointment (which can inform any arrangements you need to make with work or other responsibilities)
Keep a list of key medical information:
- Names and contact information for all healthcare providers
- Names and dosing instructions for all medications (including medications for CAH as well as other medications, vitamins, and supplements)
- Copies of test results, prescriptions, insurance documents, and other paperwork related to diagnosis and treatment
What to discuss at a healthcare appointment:
- Inform your healthcare provider about any changes, including:
- Any change in symptoms or medication side effects
- Any recent illnesses or injuries
- Any change in how the person with CAH feels, including appetite, energy levels, moods, emotions, GI issues, eating habits, and sleep habits
- Any physical changes, such as weight changes, growth, acne, or the appearance of body hair
- Bring up any questions or concerns about medications for classic CAH, such as:
- Short-term and long-term side effects
- What to do if you miss a dose of medication
- How each medication works and why it’s important
- Any concerns about the cost of medications
- Ask your healthcare provider if they recommend any additional steps in treatment at this time. For example:
- Additional tests
- Consultations with specialists
- Adjustments to medications
You may also consider bringing a family member or close friend to your appointment to provide support and take notes.
Join the Social Conversation:
#CAH #ClassicCAH #CongenitalAdrenalHyperplasia
More Information for Patients and Caregivers
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