Engaging with patients
Pacientes com doença de imunodeficiência primária (DIDP) nascem com parte de seu sistema imunológico ausente ou funcionando inadequadamente. Protegidos por anticorpos adquiridos antes do nascimento de sua mãe, crianças nascidas com XLA (uma DIDP) são geralmente saudáveis durante os primeiros 1-2 meses de sua vida.
Conheça a história de Arne
Arne is a typical 21-year-old who enjoys having fun and spending time with his friends and his girlfriend. But he is also living with a rare disease – diagnosed when Arne was just two years old.
A few days before Christmas 2001, Arne’s mother, Kerstin, noticed that her toddler was not feeling well. He was not acting like his usual curious, energetic self but instead was lethargic and cranky. And he did not want to be touched, which was not like him; usually Arne was very cuddly.
The family was preparing for the festivities in their home town in northern Germany. Christmas dinner was going to be at Arne’s grandparents’ house, but Kerstin insisted they have it at home instead because she felt Arne would be more comfortable in his own bed. Immediately after Christmas, she was going to take him to the doctor but, two days before Christmas Eve, Arne’s fever seemed to break and Kerstin was hopeful that things might be getting better.
However, he remained lethargic and, at noon that day, Kerstin was sitting on the sofa with Arne when he was suddenly sick. She noticed blood in the vomit, and immediately she and her husband drove Arne straight to the nearest hospital. The short journey seemed to take forever.
Arne had pneumonia. The normally playful boy, just short of his second birthday, was missing his usual sunny demeanour and having great difficulty breathing. For the next few months, his condition would improve and then worsen again, a cycle that was very difficult for his parents to witness. During this time, Arne seemed to have intense pain throughout his whole body, as well as dry coughs, fever and joint pain with inflammation in his wrists and hips. “Because of this, I just sat down, even though I had already learned to walk,” recalls Arne. The once bouncy toddler had lost the ability to run, walk or even crawl.
It was six months before he was eventually diagnosed with X-linked agammaglobulinemia (XLA) – a primary immunodeficiency disease (PIDD). The diagnosis was a very difficult moment for the entire family.
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. XLA is the most common PIDD, characterised by a low concentration of antibodies in the blood due to the lack of particular lymphocytes in the blood and lymphatic system.
After diagnosis and treatment, Arne learned how to sit, crawl and walk again, and his affectionate nature and his smile returned. To begin with, he was on intravenous immunoglobulin therapy but then, aged nine, he was switched to Octapharma's subcutaneous human normal immunoglobulin.
Witty, smart and a little bit chaotic – these are the three attributes Arne uses to describe himself today. As he rides the bus to his first class of the week at the Bochum University of Applied Sciences where he studies mechatronics, Arne’s mind is already racing. “It’s as if my brain has arrived in class before my body. I’m already thinking about how to engineer the next assignment I’m working on,” says Arne with a smile, before continuing:
“We don’t realise it, but we use something created by mechatronics engineers every day.”
When Arne was a child, he discovered his passion for science and technology. Watching his father fix a microwave oven or a moped, he would study the principles of motion, energy and force involved. “I've always been interested in technology and how it works. I’m amazed by its uses in everyday life – from something as simple as just turning on your TV or heating your food in the microwave,” says Arne, adding: “For instance, look at the iPhone. It symbolises the pinnacle of design, a device that’s one of the greatest technological advancements of the 21st century.”
Although, he has a PIDD, Arne has been able to lead a relatively normal life without any special restrictions. “I'm able to do everything I imagined,” says the 20-year old lover of football and the rock band Linkin Park. “Thanks to the human normal immunoglobulin solution for injection I use, I can travel, study, do sports or just hang out with my friends.”
Arne has an easy-going attitude. But that doesn’t mean he’s careless; he’s just a fun guy to be around.
“When I visited Brazil three months after my graduation, I lived with a host family,” he explains. “It looked a bit challenging to organise my medication abroad, but in the end it worked out perfectly. So, why worry?”
While Arne has his health back, he continues to think about other people also diagnosed with a rare disease. Sometimes he wonders how differently things would have been if he had been diagnosed later in life. And he also wonders what he would say to someone else with XLA. “I’d probably tell them that despite the disease you can lead a relatively normal life,” he says, thinking out loud. “Stick to your medication plan and keep your antibody level high. There are definitely more “annoying” diseases than these,” he adds with a smile.
Engaging with patients