Living With a Rare Disease

Reviewed by: HU Medical Review Board | Last reviewed: September 2022 | Last updated: November 2023

Doctors are trained to "look for horses not zebras" when trying to diagnose someone's illness. The problem for people with rare conditions is that they are the zebras among the horses. That is because symptoms of rare diseases may look like more common conditions. This makes living with a rare disease challenging and unique in many ways.1

Coping with a rare disease

Most rare diseases take years to diagnose and have no cure. This means living with a rare condition becomes an ongoing learning experience as you move from one specialist to another, trying to find a diagnosis and then symptom relief. Rare diseases often require extra work and expenses of both you and your loved ones. To help manage a rare condition, you can:1,2

  • Educate yourself and become the subject matter expert on your disease
  • Take care of yourself physically and mentally
  • Help your loved ones adjust to new expectations
  • Find a doctor who is a true partner in your care
  • Find a support group
  • Be your own best cheerleader

Managing chronic pain

Some rare diseases cause long-term (chronic) pain. Chronic pain is a difficult symptom to live with for several reasons. For example, pain is often invisible, meaning others may doubt you and your reports of how pain affects your daily life. You may face stigma if you require opioids to manage your pain. And for many people, the daily pain can repeatedly disrupt work or social activities.3

Pain can be challenging to manage, but there is help. In addition to over-the-counter and prescription medicines, you may find exercise, meditation, relaxation techniques, acupuncture, or heat or cold compresses may relieve your pain.4-6

Dealing with insurance

If you have a rare disease, it is likely that managing your health insurance will be a time-consuming effort. Insurance is complicated, so be open to asking for help from your doctor's office, assistance programs, or your support group. You may also need to become an expert in handling insurance denials or coverage limits.7

Finding the right in-home help

There may come a time when you need extra help at home. The type of care you may need can vary. Some people need help getting bathed and dressed first thing in the morning. Others need someone to cook, clean, or run errands. Still others need skilled nursing or reminders to take their medicines.

The first step in finding the right help for you is to make a list of what needs to be done and how often. Once you know what kind of help you need, you can begin looking. One way to find caregivers is to ask other people who use them or who work with them. If you belong to a support group, ask other members about what works for them. You can also ask your doctor or people in their office for recommendations.

Becoming your own best advocate

No one is going to look after you better than you. It is common to feel overwhelmed or frustrated with your medical care, but you will need to find the strength to fight for the best care. What does advocating for yourself look like? It may include:

  • Tracking your symptoms
  • Asking about the best treatment options
  • Asking your medical team to create a care plan
  • Insisting your doctors share information when needed
  • Coordinating care among your many doctors
  • Keeping your own records
  • Finding new doctors when you are not treated with respect or empathy

Living with a rare disease can be an emotional journey, but you are not alone. Remember, there are 400 million people around the world living with a rare disease. There are 7,000 rare diseases known today and more are being identified all the time.8

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