According to the National Institutes for Health, 25-30 million people in the U.S. are affected by an estimated 7,000 rare diseases. Many of those diseases are serious or life-threatening.

That’s nearly the same number of people with heart disease. And I would hope that each one of those people with a rare disease has a caregiver helping them navigate the often exhausting, lonely and frustrating experience of finding the right care.

Those patients plus caregivers add up to 15% or more of the U.S. population.

Although they are separated by their differing diagnoses, individuals with rare diseases often struggle through a similar set of problems related to health care, family life, employment, mental health and other aspects of living with a serious and often chronic condition.

I saw this firsthand. For several years starting in 2000, I was the caregiver for two family members with the rare disease of hereditary coproporphyria.

Here are four things to expect as an individual with a rare disease or as their caregiver.

Walking a Long Road to Diagnosis

Rare diseases are almost by definition hard to diagnose. It’s not uncommon for patients to struggle for 2-15 years to get a diagnosis.

For me and my then-new wife Connye, it was nearly six months between the onset of illness and an accurate diagnosis.

But she had suffered serious and unexplained symptoms for years before I met and married her.

For her teenaged son Brad, it was more than a year, including many months after his mom was accurately diagnosed with a condition that he could inherit.

Porphyria is tough because it can look like so many other conditions.

It’s an enzyme deficiency that can attack any part of the voluntary or involuntary nervous system. Because of this, some researchers have nicknamed the disease “The Little Imitator.”

So, when you and your loved-one are looking for a diagnosis, be patient, be persistent and trust yourselves.

During the diagnostic process, both Connye and Brad were told that it’s “all in their head.” This isn’t an uncommon experience for people with rare diseases.

One emergency department doctor said this to me about Brad even after I explained his mother’s hereditary condition and the fact that she was currently a patient in the same hospital.

If a diagnosis doesn’t feel right or complete, it probably isn’t. Healthcare workers may be the medical experts, but you are the expert of your situation.

Encountering Dead Ends

Along the road to an accurate diagnosis, you’ll likely receive advice, diagnoses, procedures and treatments that are dead ends.

For Connye, this included guesses about infectious disease, multiple sclerosis, depression, heart disease, pancreatic cancer and other conditions which led to treatments and procedures such as:   

  • Steroids
  • Colonoscopy
  • CT scan
  • Transesophageal echocardiogram
  • Radioactive gallium scan
  • Psychiatric hospitalization
  • Electro-convulsive therapy

Some dead ends can’t be helped. Many healthcare providers will be trying to do their best in the face of what can be scant and baffling evidence.

Again, trust yourself. Avoid non-reversible treatments such as a major surgery if you don’t trust the reasoning.

And on the flipside, if your path to getting a test that you believe would help is blocked, find a way around.

Luckily for us, the test for porphyria is easy and inexpensive: chemical analysis of a 24-hour urine collection.

But twice, we needed to go outside our insurance network to get the care we needed.

  • First, to find an available neurologist, which led finally to an accurate diagnosis.
  • Then, after the diagnosis, we again went outside of our network to start getting the treatment that Connye needed. Our approach was to get the treatment now and argue with the insurance company later.

Becoming a Rare Disease Expert

Seeking an accurate diagnosis of a rare disease is an involuntary education.

By the time you have a correct diagnosis, you’ve likely become an expert in your condition.

You will have spent more time researching your specific illness than nearly all medical personnel whom you encounter.

We saw this when we went outside of our insurance network to get treatment at an out-of-state medical school.

Even while under the care of the school’s porphyria researcher, we found that most of the nurses and medical students knew less than we did about porphyria.

You’ll need to help train your healthcare providers in how to care for someone with your condition.

For example, with porphyria there are classes of drugs that can trigger or worsen symptoms. Giving our healthcare providers that information to place in Connye and Brad’s medical records helped them to help us.

You are a primary way, and maybe even the only way, that providers will learn about these things.

Finding Your Rare Disease Community

Along the way, you’ll build up a network of other people who are on the same journey. This was true even 20 years ago, before the advent of social media platforms and smartphones.

Be a good traveling companion to others. Share what you’ve learned and the sources where you learned it. It’s okay to vent and commiserate at times, but generally a good attitude will win you more friends, information and insights.

Connye eventually connected with other patients and a great hometown specialist for porphyria through a group on (Yahoo shut down their groups feature at the end of 2020.) 

Ironically, she’d been seen by another doctor in the same practice as that specialist, but no mention or connection was ever offered.

Many rare diseases have a genetic component. That means you might find insight, community and answers within your extended family.

Or — you might be the trailblazer who unravels a medical mystery that’s followed your family for generations. That was our experience.

Reaching a New Normal

Once you find an accurate diagnosis, you’ll feel like you’ve reached a new normal.

Diagnosis will give you clarity and a course of action. You’ll have a new body of knowledge and a new group of connections that you couldn’t have pictured at the start.

Life won’t be the same, even if your rare condition can be permanently cured.

The journey changes you, but you will get there.

Matthew Spaur is a marketing consultant, author and voice actor. His memoir “Making a Small Fortune” details his family’s struggle with porphyria while he ran a weekly newspaper. More on porphyria.
Top image: