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MyStory
Evin, a 26-year-old woman with primary
Q: How did you find out that you had a primary immune deficiency? Since my birth in 1975, I was considered "sickly." Failure to thrive, high fevers, bronchitis, pneumonia, meningitis, and frequent infections punctuated my childhood. I was very small for my age, weighing only 25 pounds when I entered kindergarten. Though my parents were attentive to my health problems, the underlying problem went undiscovered until 1987. When I was 11 years old, I became increasingly sick as a result of mononucleosis. I ended up in the hospital, having been diagnosed with a platelet disorder known as Idiopathic Thrombocytopenic Purpura (ITP).1 My first infusion of intravenous immune globulin (IVIG) to treat this disorder resulted in anaphylaxis, which is a severe allergic reaction that can cause difficulty in breathing. My mother brought me to a research hospital in another state hoping to find answers, and we did. The IgA2 levels in the original IVIG were the problem. The doctors began to conduct tests that had never been done before, and it finally felt like we understood what had been happening with my health all my life. It was a challenge to piece together all of the peculiar symptoms and illnesses to see the puzzle as a whole, but once I found out I had a primary immune deficiency as well as ITP, it all came together. To everyone's amazement, the infections stopped almost immediately after I received treatment with IVIG. At that point, my doctors realized that I had some sort of primary immune disease. The treatment makes a world of difference in my health and my life. It means so much to me that with the right treatment regime I am able to fight infection better than I could before I was diagnosed. Q: How often are you (or your child) infused? Julia: My daughter should be infused every
four to six weeks, but she sometimes waits as long as three months
due to conflicts with her dual diagnosis of ITP and primary immune
deficiency. If she is treated for her primary immune deficiency
while her platelets are still at a normal level, she will be at
risk for a high platelet count. Maintaining a balance in her treatment
regimen is essential. Evin: My treatment lasts for about 24 hours. I usually go to the doctor to get my blood count checked and to pick up my orders. The hospital orders detail all the medications, pre-medications, diet, and other details required for my treatment. When I get to the hospital, I settle into my room and order my meals for the day. With my food allergies, I need to be careful about my diet. Once my IV is hooked up to my port and my treatment is started, I relax. Usually, I spend the infusion time reading, watching TV, surfing on the Internet, using my laptop, or sleeping. Q: What has been your experience with your immunologist? Evin: I have been so pleased with my physicians' level of care for my illness and me. My hematologist has been overseeing my treatment regime for 12 years. I actually found him through the phone book! When we interviewed with him, he had a good sense of humor and a positive perspective, which are two of the qualities I appreciate in a doctor. We work together to fine-tune my orders to create the most effective and comfortable infusion possible. I was referred to my current immunologist/allergist four years ago. He helps keep my allergic reactions to IgA to a minimum, while following my illness and aggressively treating my infections. Both are more than just doctors managing my medical care–––I feel like they actually care. Q: Have any organizations or support groups helped you cope with this chronic disease? Evin: It's been a huge comfort just knowing that there are other patients dealing with many of the same medical issues that I face. Julia: The Immune Deficiency Foundation (IDF)4 has provided us with the chance to meet others with many forms of primary immune disease. It's amazing how much we have in common, even though the various diseases have different symptoms. The Jeffrey Modell Foundation (JMF)5 has also helped a lot. Through their Web site, Evin and I have learned a lot about symptoms and support. I wish these two organizations had been around when she was young. Evin would have been diagnosed much earlier and suffered much less. Because there was no Internet when she was young, most of my research was done on my own through medical textbooks and journals. The Internet has made medical information more accessible and much easier to search by a specific topic. Though it does require that I evaluate the facts more often, since not all Web sites are created equal. Q: What's the most difficult part about living with a primary immune deficiency (or caring for a child who does)? Evin: The limitations. My illness does not hinder my dreaming and wishing for various life accomplishments and joys, but it does take away some of the energy I need to go out and fulfill these dreams. This has been difficult, but also a gift. I constantly remind myself to include things that make me happy in my daily life and to strive to learn from my illness and the experiences it offers me. My illness has opened doors, allowing me to meet many interesting people and develop a good sense of priorities and patience. The other thing I find to be most difficult is that on the outside, I look like any other 20-something woman. Sometimes it makes it harder for new acquaintances to grasp my restrictions. On a day-to-day basis, I need to be careful about what I eat and about getting enough rest. Another restriction is that I can't always make long-range plans, because I might need to be in the hospital for a treatment. When someone tells me that taking an extra vitamin or altering my habits or diet will cure me, I just have to remember that the person means well and I know better. Though it is sad that not everyone is better educated about immune deficiency, it is sweet that people have such hope for me to find good health. Julia: Probably the most difficult thing was convincing her doctors that what looked like a cold would not stay that way. Before diagnosis and treatment for her primary immune deficiency, Evin's infections would worsen rapidly—so her sore throat at noon could turn into respiratory distress by midnight. Luckily, her first pediatrician always treated her infections aggressively. When she developed meningitis as a toddler, I went to the emergency room and was sent home three times. The doctor thought Evin had the flu and didn't believe mothers were competent to make medical "diagnoses." As a result, I have learned to be a strong advocate for my daughter, for others, and for myself. I am often asked to accompany my friends to the hospital to advocate for them. The company that produces the therapy Evin receives has also been incredibly supportive. I first contacted them when she was having a problem getting her therapy. Everyone involved in Evin's treatment regimen keeps in touch by e-mail and phone to be sure that she is doing well. In addition, we have been lucky enough to meet the people who produce the therapy and arrange for shipment. Q: What advice would you give a person newly diagnosed with a primary immune deficiency (or the parent of one)? What advice would you give to that person's family? Evin: Listen to your gut. If you are told something, but it just doesn't sit right with you, do your own research or get a second opinion. Learn to read test results so you can stay informed. Julia: Don't panic. Primary immune disease is treatable. Find a competent physician. (The Jeffrey Modell Foundation or the Immune Deficiency Foundation can help with this.) And, most of all, take each day as it comes. Q: Describe your experience with your insurance company? Julia: Until our daughter turned 25, she was covered under our policy. Since then, we have had to purchase an individual policy, which is expensive and does not cover her treatment well. Because she has several conditions that complicate her health, she is unable to work full-time right now. We are looking for other coverage to alleviate some of the out-of-pocket expenses associated with this policy. Insurance can be a frustration in managing chronic illness, but I try not to get overwhelmed by it. Q: Is there any "silver lining" to having this condition? Evin: Understanding chronic illness and its effects on daily life has given me the ability to empathize with others—something that I cherish. I used to be very shy, but having to be an advocate for my health and welfare on a daily basis has encouraged me to be more assertive and outgoing. I have an interesting perspective on life that I've gained through my experience with chronic illness, and that is a part of who I am. I have squelched my shyness to the point that I am able to make speeches to large and small groups on behalf of different organizations. Julia: It has brought our family closer together and given us a real perspective on what is important in life. We operate as a team, with all of us pulling together. Since Evin is an only child, we have been able to focus a lot on supporting her and have spent more time together than most families do. We have met wonderful people: other patients, families, doctors, nurses, and pharmaceutical company representatives. Our family is much stronger. Q: What improvements in your IVIG would you like to see from processors of IVIG therapies? Evin: I wish for a treatment regimen that makes life more accessible. I would like to see more progress in eliminating IgA from my therapy. Julia: I would like to maintain the current confidence we have about the purity of the product we use. It would be wonderful to have a product with no IgA so we can eliminate allergic reactions. An educational program for physicians and hospital staff—especially pharmacists—would be great. Not everyone is informed about the needs of a patient with a primary immune deficiency and additional training in drug sensitivity, caring for patients with chronic illnesses, and being prepared for regular hospital admissions would be an asset to the field of medical care. References: 1. IgA is an antibody that is part of the normal immune system. Some immune-deficient patients have anti-IgA antibodies and, as a result, might suffer from an allergic reaction to IVIG preparations that contain high levels of IgA. 2. Although IgA is a naturally occurring antibody in the normal immune system, it is considered a contaminant in an IVIG preparation that will be infused in immune-deficient patients. 3. ITP is a disorder of the blood in which the number of platelets (blood cells involved in clotting) is reduced. As a result of low platelet counts, excessive bleeding can occur. (This definition was adapted from the Jewish Hospital Healthcare Services Web site, at www.jhhs.org.) 4. The IDF is a patient organization whose mission is to improve the diagnosis and treatment of patients with primary immunodeficiency disease through research and education. The IDF Web site address is www.primaryimmune.org. 5. The Jeffrey Modell Foundation is a patient organization that is active in research, physician and patient education, patient support, and public awareness. The foundation's Web site address is www.jmfworld.org. |
Note:
This interview features a person with a primary immune deficiency.
It was not written by a healthcare professional and is not meant
to replace the expert care of a qualified physician. Please consult
your physician with any questions you might have about your health.
