Rare Disease Day: What Does It Have To Do With COPD?

Rare Disease Day is always held on the last day of February, which is usually February 28th, but this year is Leap year, so it will be held on the 29th. Which is today!

A rare disease is a disease or condition that affects fewer than 200,000 Americans. There are more than 7,000 rare diseases affecting more than 30 million Americans. The National Organization for Rare Disorders (NORD) maintains a database of more than 1,200 rare disorders with information on symptoms, causes, treatments, clinical trials, and sources of help, such as patient advocacy organizations.¹

The link between Rare Disease Day and COPD

You may be wondering what Rare Disease Day has to do with COPD, but there is a rare disease that can cause COPD. This would be Alpha-1 Antitrypsin Deficiency (Alpha-1).

Alpha-1 is a genetic condition. It is a progressive condition, which means it may worsen over time. It can lead to serious lung and/or liver disease.

There are about 100,000 people in the United States living with Alpha-1 (and about the same number of people with Alpha-1 living in Europe). Worldwide, ​​the number of people with Alpha-1 is 1 in every 1,500 to 3,500 people of European ancestry.²

People of any racial or ethnic group can get Alpha-1, but it is more common in people of northern European backgrounds. There is no cure for Alpha-1, but treatment can help people with Alpha-1 manage symptoms.³

Avoiding certain behaviors, like smoking, and jobs around harmful fumes can help slow the progression of Alpha-1 lung disease.

Navigating a Alpha-1 diagnosis

I was diagnosed with Alpha-1 in June 2010 at the age of 39. After almost 14 years of diagnosis now, some doctors have gotten a bit better at diagnosing those who have COPD with Alpha-1, but there are still many out there who are not testing.

Here are some things that I have heard from other Alpha-1 patients about why their doctor didn't test them sooner.

"You don't look like you have Alpha-1."
"You smoked."
"You drank."
"It's just your age."

I could go on and on.

Who looks like they have COPD, even? Not many unless you have oxygen, or they can see your test results.

Many people with COPD don't need oxygen yet but still have bad lungs. Slowly but surely, though, some of these doctors are learning.

Delay in diagnosis

I was fortunate enough to be tested after going to my first lung doctor, but most Alpha-1 patients go many years without being diagnosed, even after seeing a lung doctor for many years. That happened to my good friend Deb and many others.

Deb didn't find out she had Alpha-1 for six years after she finally told her doctor she needed more tests. She told him something else had to be going on.

She had other family members going through the same thing, and some of them had never smoked. He asked her during the appointment "You mean I've never tested you for Alpha-1? Her reaction was, "Alpha what?"

She had seen him for years, and he never considered testing her.

Who should get Alpha-1 testing

Who should be tested for Alpha-1? The latest clinical guidelines recommend Alpha-1 testing for:

People with COPD, if you have a lung disease (including emphysema) that block airflow and make it difficult to breathe.⁴

People with panniculitis, a skin condition that some people with Alpha-1 develop. Parents, siblings, children, and extended family members of people diagnosed with Alpha-1.⁴

So, if you fall in this category, please make sure that you have been tested for Alpha-1, even if your doctor doesn't think you should be. Also, if they do test you, make sure you ask them to do both phenotype and genotype tests. This is important, and some doctors might not know this.

You can order a free, at-home blood test kit either from the Alpha-1 Foundation. They will send you a free, confidential home test kit, or you can look online for a free swab test for Alpha-1, and one of the Alpha-1 drug companies will send you a free, confidential swab kit.

Have you been tested for Alpha-1? Please share with us your thoughts in the comments below.