Franny Slingerland is a pediatric nurse and works as a care coordinator for patients with Duchenne and Becker at the LUMC. During our conversation she invariably refers to this patient group as ‘our boys’. “They are almost always boys,” she says. “That’s because this muscle disease is caused by a DNA error in the X chromosome. Women have two of them and men have one.” This means that women can compensate for the error with their ‘good’ X chromosome, so they usually have no complaints. Women who do have complaints are an even rarer group.
Home-situation
The care in the LUMC is not only aimed at the physical complaints of Duchenne patients. About 30 to 40% of boys also have behavioral and learning problems, such as ADHD or autism. That’s because the broken protein that the DNA error leads to is also located in the brains of these guys. “The educational service of the LUMC is therefore involved in healthcare,” says Franny. “They give schools advice on how to deal with this patient group and they also pay a lot of attention to the other children in the family.” In addition, the LUMC works closely with the neuropsychologist from Kempenhaeghe. Here they are specialized in strengthening the learning potential of a child with Duchenne or Becker and they guide the family in the home situation.
Care in motion
The care for Duchenne patients is constantly evolving. That’s because the boys are getting older, and that’s because of improved medical care. “They are now more likely to reach the age where they start studying, fall in love and want to live more independently,” says Franny. “And that requires a different approach. As a team, we are there to hear and feel what they need and to adjust our care accordingly.” The team encourages boys to become more independent if their situation allows. “One of our boys now lives independently and has arranged appropriate support and care himself, which we are very proud of.”
Improve arm muscles
The LUMC therefore offers Duchenne patients broad care and support. But the expertise in this area extends beyond the walls of the outpatient clinics. Duchenne is also an important point of attention in our laboratories. From research into biomarkers that predict the course of the disease, to developing a therapy that can repair the DNA error. “It is special that the care and the basic and translational research into Duchenne all take place in one center. In this way, scientific developments reach the patient faster.” For example, a study is currently underway to improve arm function. Researchers Niels Geijsen, Erik Niks, Annemiek Aartsma-Rus and Hermien Kan want to use local treatment to make the genetic code for the protein that causes the disease readable again. By administering this into the arm, the researchers hope to slow the disease in that spot. “The arms are very important for the boys, it gives them more freedom. Think, for example, of eating independently, operating the wheelchair and of course gaming.”
By: National Care Guide