By Michael Davies

From an early age, Melissa Biggs had the attitude, brains, looks and drive to be a success. She was also, unbeknownst to everyone, one of the many faces of Alpha-1 Antitrypsin (AAT) Deficiency. While leading a successful life (starring in the wildly popular “Baywatch” series, starting her own line of clothing, and raising a 12 year old daughter) this 35 year-old single mother also suffered from lifelong respiratory ailments. From chronic colds and sore throats to asthma and allergies, this ever-moving woman suffered from persistent respiratory complaints since childhood.

Alpha-1 Antitrypsin Deficiency is an inherited disorder that can cause lung disease in adults and liver disease in adults and children. Alpha-1 antitrypsin – AAT or A1AT - is a protein that protects the lungs. The liver usually makes the protein, and releases it into the bloodstream. Because of a gene problem, some people have little or none of it. Not having enough AAT puts you at risk of emphysema or liver problems. Three in four adults with a severe deficiency will get emphysema, some when they are younger than 40. If you smoke, you increase your risk.

Signs and symptoms include shortness of breath at rest or with exercise, wheezing, coughing, repeated lung infections, sputum production, a history of suspected allergies, and/or asthma. Alpha-1 Antitrypsin Deficiency is associated with a number of diseases, including: cirrhosis, COPD, asthma, Wegener’s granulomatosis, pancreatis, gallstones, bronchiectasis (of which Melissa suffers from as well – See ER’s Late Winter 2008, Vol. 3, Issue 1 for a feature on bronchiectasis), prolapse, primary sclerosing cholangitis, autoimmune hepatitis, emphysema, cancer (lung, hepatocellular, liver, bladder, gallbladder) and lymphoma.

After bouts with pneumonia in 2005, Melissa’s allergist conducted extensive tests, which showed that she was “severely allergic”, and a stoic asthmatic – which meant that she had suffered from asthma her entire life, but had “just lived with it.” “I always felt kind of weird – I couldn’t run long distance – couldn’t swim laps. I just thought this is what life was like – some people run and some can’t,” Melissa says. Melissa’s lifelong illnesses were now linked solely to her extensive allergies.

In the midst of Melissa’s health crisis, she received a call one day from her mother who had discovered there was a strange illness running on her side of the family. Among some distant relatives, eight were suffering from it – and two had died. Melissa asked her allergist if in all of the blood screenings that she performed, had she been tested for something called AAT deficiency. She hadn’t, stating that this was a very “specific test” (Note: two years later over 25 of Melissa’s relatives are found to be affected in some way by Alpha-1! – and that number is growing).

In fact, Alpha-1 Antitrypsin Deficiency can be diagnosed through a simple,quick blood test – just a prick of your finger, but you must tell your doctor about this test, as many are unaware of its availability. There are three types of Alpha-1 Antitrypsin Deficiency tests that can be done to detect this condition:

• Alpha-1 genotyping examines your genes and determines your genotype • Alpha-1 antitrypsin PI type or phenotype test determines the type of AAT protein

• Alpha-1 antitrypsin level test determines the amount of AAT in your blood.

Ultimately, Melissa was tested for the deficiency and a critical care pulmonary specialist told her that she did have Alpha-1 Antitrypsin Deficiency! He informed her that he didn’t know much about it except that it was incurable and fatal. He was aware of a treatment, but required a huge commitment consisting of 8-hour hospital stays for intravenous infusions of human plasma. He went on to say that because the condition was very rare it was very expensive, costing more than $20,000 per month and that her insurance probably wouldn’t cover it. But without the treatment, her condition was fatal. Then he asked her to give him six months to research it and that she could get worse and then her insurance would cover it. Melissa was devastated.

The very next week, something serendipitous and strangely coincidental occurred. A patient support specialist from CSL Behring walked into the office of Melissa’s physician offering information about the drug Zemaira, which is used to treat patients with Alpha-1 deficiency. Melissa learned that virtually everything her doctor had told her was inaccurate and while the disease was serious, it was completely manageable and that with treatment with Zemaira they could slow it down and almost stop it. More surprising for Melissa was learning that AAT deficiency is not all that rare. There are an
estimated 100,000 people walking around with it in the U.S., while only 3,000 people are being treated for the disease. Almost no one knows about it! What was even more frightening to Melissa was that many of the best critical care specialists around are unfamiliar with the disorder and are not testing for it (it takes an average of seven to eight years from symptom onset to correct diagnosis).

Melissa began a once a week treatment with augmentation therapy utilizing CSL Behring’s Zemaira (an Alpha-1 human plasma proteinase inhibitor, proven to raise and maintain levels of alpha-1), which is administered to her by a visiting nurse. The in-home treatments take less than fifteen minutes to administer. They are not a cure for Alpha-1, but they give Melissa the peace of mind knowing that she won’t be getting any worse. “That kind of reassurance, for someone like me, is immeasurable,” she says. To learn more about CSL Behring and Zemaira visit http://www.zemaira.com.

After beginning the augmentation therapy, Melissa became involved with patient advocacy through CSL Behring. In addition to her work with the company, Melissa is active in fundraising efforts and is a member of the Development Committee of the Alpha-1 Foundation, a nonprofit organization dedicated to providing the leadership and resources that will result inincreased research, improved health among Alphas, improved worldwide detection, and possibly even a cure for Alpha-1. Melissa was also provided with various resources, including The Caring Voice Coalition, or CVC (www.caringvoice.org), a non-profit organization that helps people with Chronic Respiratory Illnesses. To help raise awareness of Alpha-1 deficiency among healthcare professionals and the
general public, Melissa shares her experiences in numerous appearances around the country and stresses the importance of being tested. Melissa wants to tell everyone that “the sooner patients get diagnosed, the sooner they can get the medical help they need to live the best life possible.” In order to promote awareness as well as give something back to the Alpha-1 community, Melissa, who created and runs P.G.D. Style Luxury Clothing Collection, a beautiful collection of women’s contemporary clothing, including couture cut T’s, novelty tops and dresses, will donate a percentage of sales to help others suffering from AAT deficiency. Everything Respiratory encourages you to visitP.G.D.’s website www.pgdstyle.com to see the beautiful creations and support her efforts. The entire collection is available for purchase www.couturecandy.com. “P.G.D. is going to be a vehicle that helps me bring awareness to AAT deficiency,” she says, also noting that all of the trials and tribulations really paid off, because they enabled her to help others.

Now in full control of her life, Melissa manages her illness with the weekly augmentation therapy treatments, along with maintaining a healthy diet and exercising. She still suffers from asthma-like symptoms, shortness of breath and mucus in the lungs, all symptoms caused by Bronchiectasis, a condition Melissa developed as a result of the AAT deficiency. But Melissa has found methods that keep her healthy and alleviate some of these symptoms. She recently discovered that probiotics play a big role in managing her illness. One in particular, Bio-K+, is a 100% probiotic drink found in natural food stores that has dramatically changed her health for the better. Melissa says she has been drinking Bio-K daily for months and has not been sick once in that time, which has resulted in
decrease usage of her inhaler as well as other prescribed medications. “I wonder if you can imagine”, says Melissa, “after years of constantly being sick, and fighting illness practically every day of my life, to learn I didn’t have to be sick all the time anymore. It has really transformed my life for the better.” (for more information on Bio-K+‚ visit www.biokplus.com). You can contact Melissa at her blog, where she is trying to generate a dialog including helpful hints and questions about Alpha-1, at www.melissabiggs.com.

“Aside from raising my daughter, my number one goal this year is to bring awareness to this disease,” says Melissa. “I especially want to help reach out to the medical community. In this day and age, there is simply no good reason why people shouldn’t know what AAT deficiency is about,
and what the right tools available are much misinformation in the medical community and although an Alpha-1 Antitrypsin Deficiency diagnosis can be traumatizing, it’s okay to have, you’re not alone, and with the help of caring people like Melissa Biggs, who is now one of the many faces of Alpha-1, AAT deficiency awareness will be increased and gain the needed attention it deserves.

Editor’s Note: ER wishes to thank Ms. Biggs for her tireless work educating our readers about Alpha-1 Antitrypsin Deficiency. Also of note is new information from the Social Security Administration. The Compassionate Allowance List is a list of diseases that are recognized by Social Security for disability benefits and will not require individuals to engage in an appeals process, as they will no longer be denied. The Alpha-1 Association and Alpha-1 Foundation petitioned the Social Security Administration to include Alpha-1 Antitrypsin Deficiency on the new Compassionate Allowance List. Unfortunately, it was not. ER suggests you contact your local and state representatives so they appeal this decision directly to the SSA.