Rare Disease Day
Rare Disease Day is recognized each year on the last day of February. This article outlines a bit about rare diseases and highlights the one I have: Alpha 1 Antitrypsin Deficiency.
What is a rare disease?
A rare disease is a condition that affects fewer than 200,000 Americans. Cumulatively, there are more than 7,000 rare diseases affecting more than 30 million Americans.1
The zebra is the official symbol of rare diseases in the United States and is noted for its black and white stripes which are central to its uniqueness. So if you hear someone say are you a zebra or are you wearing your stripes, you will know what they mean!1
My rare disease
The rare disease that I have is Alpha 1 Antitrypsin Deficiency. Alpha 1 Antitrypsin Deficiency (Alpha-1) is a genetic (inherited) condition – it is passed from parents to their children through their genes. Alpha-1 may result in serious lung disease in adults and/or liver disease at any age.2
Alpha-1 has caused me to get emphysema, liver fibrosis, circulation problems, and much more. Due to some of the meds that I take I also have osteoporosis which has led me to break my ribs twice. Once just from moving myself up in bed and the other time from falling down a few steps. I am on oxygen full-time and use a CPAP at night.
Manifestations of Alpha-1
There can be many manifestations of Alpha-1, including the following:2
- Lung diseases like COPD, asthma, and lung cancer.
- Liver diseases such as fibrosis, cirrhosis, and liver cancer.
- Skin problems which can include panniculitis and psoriasis.
- Digestive problems such as inflammatory bowel disease and pancreatitis.
- Kidney diseases like proliferative glomerulonephritis and IgA nephropathy.
- Vascular diseases including ANCA-positive vasculitis, abdominal and intracranial aneurysms, and arterial fibromuscular dysplasia.
This doesn’t mean that every Alpha-1 patient will get any of these, but people with the condition should be aware of the possibility.
Rare Disease Day
I participate in Rare Disease Day mainly to raise awareness. When I was first diagnosed with Alpha-1, no one in my family including myself had ever heard of it. After much research and learning about it myself, I had to explain it over and over again. Even a lot of physicians including pulmonary doctors and respiratory therapists didn't know what Alpha-1 was. Some had heard of it in their schooling but said that they got maybe a 10-15 minute lecture on it and that was it.
It’s amazing to me that we, the patients, have to bring awareness to our physicians. That is why it is so important to advocate for yourself.
Efforts paying off
Since being diagnosed in 2010 and spreading Alpha-1 awareness, ten of my family members and one of my friends have been diagnosed with Alpha-1. I still have many more family members who should be tested, especially with our family history of liver and lung disease. Hopefully, that will come with doing more on Rare Disease Day and spreading awareness.
If you know anyone with any lung and/or liver problems or are interested in more information on free, confidential testing, and more information on Alpha-1 in general, you can visit the website for the Alpha-1 Foundation.
I hope this has helped you learn more about Rare Disease Day and motivated you to participate in it. Even if it’s not for Alpha-1, there are many more rare diseases out there that I am sure another friend or family member is dealing with and you could help spread awareness.
Do you have an emergency plan to deal with your COPD during a major storm?