Engaging with patients
Embora a imunodeficiência comum variável (CIVD) seja um distúrbio imunológico relativamente comum, cerca de 80% dos pacientes são diagnosticados apenas na faixa dos 30 anos ou mais. Esse diagnóstico difícil geralmente se deve ao enfoque nas doenças mais prováveis.
Leia a história de Laurel abaixo
Clinical nurse educator (CNE) Laurel has little time to rest when she is travelling the country to meet healthcare professionals and educate them about subcutaneous immunoglobulin therapy and primary immunodeficiency diseases (PIDDs). Whether in New York, Los Angeles or Chicago, Laurel keeps going, as she knows first-hand how important education and advocacy can be for each and every patient.
Sitting in an airport, waiting for a flight is a weekly experience for Laurel. This vibrant and energetic CNE is accustomed to the congested highways and airports of the USA’s largest cities. Late into the night, Laurel combs the primary immunodeficiency (PI) social media support groups, answering questions and providing encouragement to patients. Driven by passion and purpose, she is determined to make an impact on the PI community or to simply help a single person cope or understand their diagnosis, treatment and management.
“I am used to the hectic rhythm,” says Laurel, who was born and raised in Chicago, and lived in South Florida for 20 years. She joined Octapharma in April 2019. As part of her job, she regularly meets with medical staff, pharmacies and patients, helping to advance knowledge and understanding of PIDs and immunoglobulin therapy. “As a CNE I spend most of my time in the field,” Laurel says.
“The immunologists and other healthcare professionals that I meet are knowledgeable about PI, but often lack awareness and insight of the impact that PI has on the individual – how personal lives are impacted, the challenges and what it takes living with this diagnosis.”
Her interactions and education bring a unique perspective, as Laurel herself was diagnosed with the rare disease known as common variable immunodeficiency (CVID) only a few years ago.
Laurel was 49 years old before doctors finally confirmed her CVID diagnosis. Like many other patients, she had spent many years of her life since childhood under the care of multiple specialists without getting an accurate diagnosis to explain the root cause of her recurring illnesses. Unfortunately, a common thread prior to a PI diagnosis is shaming: “My physician and multiple specialists accused me of malingering and attributed my health status to lifestyle issues, work, sleep, diet, exercise and stress,” remembers Laurel.
All the time, her doctors were distracted, only treating individual symptoms. Laurel experienced hallmark symptoms of PI: recurrent ear, sinus, respiratory, skin and urinary tract infections, and systemic inflammation, yet no one thought to look at her immune system. But, most significantly, she developed recurring inflammatory breast disease. Her surgeons were perplexed and giving up hope. In one year, Laurel underwent three surgeries and two hospitalisations. Although she did not have cancer, she required a mastectomy and, as a result, she had to stop working because her body was so taxed. “It was exceptionally challenging to cope with being so sick, forced to abandon my career and imagine what my future will hold,” she says today. “But I always had a strong will and was determined to put the puzzle pieces together, turn it around, so that I could live my best life.”
Looking back at her medical records, Laurel now knows what was not obvious at the time: somebody should have said “Why don’t we look at her immune system?”
The explanation for her infection and fatigue finally came when she was working as a clinical director of operations for a home care company that subcontracted intravenous immunoglobulin (IVIg) nurses for specialty pharmacies in South Florida. Laurel realised that the clinical paths of many of the patients she encountered had a similar history to her own. She immediately contacted a prominent clinical immunologist who, after seeing her, initiated the three-month diagnostic process which confirmed the primary immunodeficiency: CVID. “Confirmation of my suspicion was still a shock, but I was relieved, because finally there was validation of the root cause and available treatment for all that stuff that was going on in my body,” recalls the 54-year-old.
Laurel now dedicates much of her time to reading scientific abstracts and attending immunology conferences to fully understand current research trends in the diagnosis, treatment and management of PIDDs. PIDDs are a group of more than 400 rare, chronic disorders in which part of the body’s immune system is missing or functions improperly. Some patients are more prone to recurrent infections while others have a deregulated inflammatory process which makes them prone to auto-inflammation and auto-immune diseases. The treatment for PIDDs is life-long intravenous or subcutaneous immunoglobulin infusions to replace the missing or defective antibodies.
For the first two years after being diagnosed, Laurel received IVIg infusion therapy. But things got complicated. “I had adverse reactions. I couldn’t go to work for days following my infusions. It was depressing,” she remembers. Her doctors advised her to apply for disability support and referred her to the National Institutes of Health for genetic testing and consideration of a stem cell transplant. Laurel was strong and told herself: “You have to maintain a positive mind-set and decide if you are going to live your life being sick or do everything you can to be well.” She decided to put in the effort and reclaim her life.
Although it took some time for Laurel to bounce back, she was not willing to give up. Now she takes a subcutaneous human normal immunoglobulin (SCIg) infusion. She administers the infusions independently, at home or on her travels. “SCIg was a life changer for me,” she says. “I have no systemic side effects and I no longer require steroids and IV fluids pre/post infusions to mitigate adverse reactions, and very rarely have site reactions. Finally, I am able to plan the infusions around my life and schedule, instead of needing to plan my life around the scheduled infusions.”
She feels invigorated and satisfied when, in the discussions she holds with patients, she hears stories about how doctors have been able to help them. Her positive attitude has helped her to pursue a career with purpose, and maintain good relationships with her family and all of her friends and colleagues over the many difficult years of the disease.
Before closing her suitcase, she sits for a short time at the edge of her bed and tells herself: “I will not let PI steal my life; I am not my diagnosis. I’m flying over the country to help my PI folks. I’m going to make the most out of all my challenges and experiences. No whining, Laurel!”
Engaging with patients