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Health Talk: Alpha-1 Deficiency

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Melissa Biggs was driving her car when she was given a death sentence. A cardiopulmonary specialist was giving the actress, one of the beach beauties from the Baywatch television series, results from medical tests she had undergone. The tests indicated Biggs, who had suffered from asthmatic-like problems her entire life, had Alpha-1 Antitrypsin Deficiency. She was told she had two years to live. Three years later, Biggs is a spokesperson for an educational campaign about Alpha-1 Deficiency, and in December, she addressed the American Lung Association's National Board meeting in New Orleans. Few people are aware of this treatable-but-not-curable disease, which affects more than 100,000 people in the United States. Only 3,000 of those are receiving treatment. An estimated 25 million Americans carry the Alpha-1 Deficiency gene.

Q: What is Alpha-1 Deficiency?

A: Alpha-1 is a protein that's found in your liver. In your liver you have many proteins and enzymes, and without this protein — or enough of it — [your liver] can't break down your body's own natural enzymes, which come out when you're sick as part of your immune system to battle the illness. For instance, when you get a cold, your liver releases enzymes into your system to fight the aging or damaged cells in bacteria. ... When you're well, your body automatically releases this protein, Alpha-1, that breaks down the enzymes and helps you to recover. Well, these enzymes are like a little machine that [does its] job, but without the protein to break them down, they don't go anywhere and continue to feed on good cells and bacteria. So the enzymes feed on your vital organs.

Q: How does the disease progress?

A: You're born with it, because it's genetic, so every time you're sick as a child, your enzymes are attacking your vital organs. It takes about 30 years for the symptoms to start — 30 years of damage. All this time, all these other things are manifesting as a result of the enzymes breaking down the lung tissue, liver's lining and things like that. So you can get [diseases] as a byproduct like liver cancer, cirrhosis of the liver, emphysema and COPD (Chronic Obstructive Pulmonary Disease). I have something called bronchiectisis, which resembles asthma symptoms, but it's not asthma. I have severe inflammation of my lungs and they don't exchange oxygen properly because I have a lot of mucus that sits at the bottom of my lungs. That's my byproduct of Alpha-1 Deficiency.

Q: So it takes 30 years for symptoms to manifest?

A: Approximately. There are different gene makeups (for the condition). I am an SZ. ZZ is the worst, and MZ is a carrier (MM is normal). So I'm just below a carrier, but not as bad as a ZZ, which doesn't take 30 years (for the damage to become apparent). A friend's baby, 2 years old, was a ZZ and had to have a liver transplant. For instance, you have a parent who is an MZ carrier — they're never going to be symptomatic most likely. They marry another MZ carrier, those two have a baby, and they potentially could either pass on an MM, an MZ or a ZZ. I know a family in Florida where both parents are carriers and all three of their children are ZZ.

Q: Isn't it typical for children with Alpha-1 Deficiency to fall through the cracks?

A: Yes. It takes so many years to get diagnosed because doctors are just not testing for it. It's just classified as a rare disease and many doctors don't even know what it is, which is why I'm doing what I'm doing.

Q: And you were put on a treatment plan?

A: A nurse comes to my house once a week and gives me intravenous transfusions of the drug Zemaira. So I get the plasma treatments — they take 15 minutes. ... I'm within range now (of enough Alpha-1 protein). It's not a cure; it's not going to make me better; it's not going to fix me. Whatever damage has been done is irreversible, but it's going to keep me from getting worse and dying. That's why early detection is key, before you do harmful damage to your organs, before you damage your lung beyond repair.

Q: If a correct diagnosis is so difficult to obtain, what do you suggest to parents who have children with pulmonary problems?

A: I'm urging all doctors, parents, everyone to test anybody with asthma symptoms, chronic anything, or anyone with severe breathing problems. It's not that expensive of a test. There are free test kits out there you can get (www.alphaoneregistry.org). Now it's easier to get testing, and we're working on getting babies tested and things like that.

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