Winners never quit, quitters never win

10/12/2020
Histoires de patients

Kristopher and his brother Robin have been using Octapharma's subcutaneous human normal immunoglobulin ever since they were born. Today it’s Monday morning, the sun is streaming through the curtains in the living room, and Kersti, the boys’ mum, is the first one up as always, ready to make coffee for her husband. “I simply love the smell of coffee. It slowly but surely awakens your senses,” says this nurse who specialises in primary and secondary immunodeficiency.

As she pours steaming mugs for her husband and herself, she tells him about her plans to take the boys to the nearby lake in the afternoon. After discussing the logistics of the day, both parents prepare all the medications needed. “We can handle things easily now!” adds Kersti, brightly. But this wasn’t always the case.

Learning to handle things as a family

From Toila in Estonia, both boys were diagnosed with the rare immune disease X-linked agammaglobulinemia (XLA), which means they lack the antibodies needed to defend their bodies against infection.

Now aged 19 and, like his brother, enrolled at a vocational school to study construction, Kristopher was diagnosed when he was only nine months old. The doctors immediately advised he start medication, since though XLA isn’t curable it is possible to replace the antibodies that the body needs. Robin, now 18, was actually diagnosed before he was born, after an analysis of his mother’s amniotic fluid revealed he was a boy.

“At first, there were a whole lot of questions and not many answers. Or rather, we did not know what to ask”, recalls Kersti. “Later, we heard about the International Patient Organisation for Primary Immunodeficiencies and joined their family, and it became a lot easier to handle. It was great to realise that we are not alone in this anymore and we had access to all the information we needed.”

Also known as Bruton’s agammaglobulinemia, XLA is a rare genetic disease which causes a weakened immune system. ‘X-linked’ means that the gene that causes this disease is located on the X chromosome, and it therefore affects boys almost exclusively because they only have one X chromosome.

Children with this disease can’t make antibodies (which are immunoglobulins), meaning they can’t fight off infections caused by bacteria and by some viruses. Anyone with this disease is more likely, therefore, to get more frequent and severe infections. These infections are often located in the middle ear, sinuses and lungs, but can also involve the bloodstream or internal organs.

On top of all this, as toddlers the brothers were also diagnosed with Mohr–Tranebjærg syndrome, which is a rare X-linked recessive syndrome also known as deafness–dystonia syndrome.

Taking treatment in their stride

Treatment is by intravenous immunoglobulin (IVIG) which requires 6–8 hours in hospital every three weeks. “Our usual treatment day starts with a 2-hour drive to the hospital, which is in the same city where the boys go to school,” explains Kersti.

With all the waiting for tests, a day at the hospital can seem endless, but the family is grateful for every doctor’s support. “As a mother, I have faith in the medicine and that’s why we are strong supporters of the intravenous treatment. It ensures that their immunoglobulins are stable and keeps the boys’ life quality up,” adds Kersti.

Both brothers have always been very involved in their treatment, and always very patient. From a very early age, they have had an in-built understanding that they are a bit different from the boy or girl next door. However, they very quickly made friends and have never been bullied or treated badly due to their condition.

“The bravest boys I know”

“Kristopher and Robin are the bravest boys I know,” says Mariliis, their older sister, proudly, adding: “They make me a better person. When I get annoyed over the smallest things, Robin just says, “Pole vaja kuri!” (“There’s no need to be angry”). That’s his motto! And I gain courage from Kristopher’s eyes. He seems the quiet one, but he shows me that you don’t need to be extrovert to be confident.”

Both boys are very sensitive and perceptive and know instantly if somebody is angry or bitter. As they say, “there is no need to be like that.”

Their life is definitely different and challenging but is still beautiful. They are close as brothers and stick together as a family and can handle everything. As Robin adds with a grin: “Some things just take us a little longer to learn, but winners never quit, and quitters never win.”

Keywords

Maladies et thérapies

Immunologie