Shortness of breath, wheezing, coughing — sounds like COVID-19 symptoms, right?
Chronic bronchitis, liver disease, jaundice, recurring chest colds and pneumonia, decreased exercise tolerance, year-round “allergies”, swelling of the abdomen.
These are the signs and symptoms experienced by approximately 1 in 5,000 Canadians who suffer with Alpha-1 Antitrypsin Deficiency (AATD) and millions more world-wide. But you’ve never heard of Alpha-1, have you? Don’t feel bad. To my surprise, I found out that many physicians have never heard of the disease either.
“Doctors sometimes mis-diagnose the symptoms of an Alpha-1 patient for asthma or smoking related diseases such as Chronic Obstructive Pulmonary Disease (COPD),” says Angela Diano, Executive Director of Alpha-1 Canada.
Alpha-1 is a rare blood disorder, so of course like other rare diseases it doesn’t get the exposure, treatment and awareness of a world-wide pandemic. That doesn’t make it any less important or pressing.
There are many rare diseases that receive ongoing attention, as well as accessible, equitable treatment. This is not so when it comes to Alpha-1.
There is currently no cure for patients with the rare blood disorder that creates a deficiency in the liver’s ability to produce a lung-protecting protein called Alpha-1 Antitrypsin . There is, however, a single treatment called Alpha-1 Antitrypsin Augmentation Therapy (weekly intravenous plasma infusion) that slows the process of irreversable lung decline. Good news, right?
For the ‘lucky’ few Canadian Alpha-1 patients, like 60-year-old Lynn Kent whose lungs currently function at 69 percent capacity, access to treatment keeps her lungs function from declining more than they already have.
“Even as much as I am a very active person who skis, bikes, hikes, walks and everything, I have found over the years that it is becoming more difficult doing some of those things. I have to realize that my lungs can only…