Pediatric nurse Franny Slingerland knows all too well that care for rare diseases is complex. She organizes the annual check-up day for patients with Duchenne and Becker muscle diseases at the Leiden University Medical Center (LUMC). They see about eight specialists a day and the treatment plan is discussed afterwards. A busy and exciting day. But fortunately there is Franny, who is a rock in the surf for both the patients and the parents, also outside this control day.
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. World Duchenne Awareness Day is therefore all about Duchenne among women to draw more attention to them as well.
Duchenne’s disease in boys has a severe course. Their muscles continue to deteriorate. At a young age, most children can no longer walk well and they develop complaints such as heart failure and problems with breathing.
Relieving families
Unfortunately, there is no cure yet. The care in the LUMC is therefore aimed at optimally guiding the patient and the parents. “Every year we organize a check-up day for Duchenne patients, but also for patients with another muscle disease,” says Franny. “Because it is a progressive disease, it is important to keep a finger on the pulse and adjust the treatment plan if necessary.” On this day, the boys see several specialists, such as a neurologist, cardiologist, lung specialist, rehabilitation specialist, orthopaedist, physiotherapist, but also a dietician. “By planning everything in one day, we save them hospital visits and relieve the families a bit.” The children are received on this day in the Willem-Alexander Children’s Hospital. Franny is there all day to make sure everything runs smoothly for the family and patient. “I am an accessible point of contact and if something goes wrong, I am there to smooth it out again.”
It’s a long day for the boys and their families, Franny has to admit. “And of course it’s also very exciting,” she says. “They are told how their hearts, lungs and muscles are doing. If we see them deteriorate, it is obviously very confrontational for the boys and their parents.”
Franny now organizes the annual check-up day for about 150 children and adults with a muscle disease. As she says herself, she grows with them in this way. “I really enjoy being involved in these guys’ journey. And it’s also nice for them to see the same face every time they come here,” says Franny. “Even when they turn eighteen and switch from the children’s to the adult team, I will remain their point of contact.” In the coming year, such a multidisciplinary day will be possible for all children with a muscle disease in the LUMC.
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.”
Missed diagnosis
Most boys with Duchenne who come to the check-up day for the first time are around 4 years old. “Occasionally, the diagnosis is discovered at a later age.” The disease has already progressed further. It is then more difficult to slow down the disease with medication. “That is why it is important that general practitioners, but also other healthcare providers, are aware of what Duchenne is and recognize it, so that they can be referred as soon as possible.” Franny is committed to this together with colleagues from the Duchenne Center Netherlands and patient organizations. The greatest wish of Franny and the team is to have all the boys with Duchenne in the picture as early as possible. “They all deserve the best possible care.”
With a rare disease, the right tailor-made care is needed in the right place. Unfortunately, not every hospital can offer that. The Ministry of Health, Welfare and Sport therefore tests and accredits centers of expertise for rare diseases. The LUMC has a total of 36 recognized expertise centers for rare disorders. Within these centers of expertise, patients have access to the specialist care they need. In addition, patient care and research are strongly linked within these centers of expertise. There are also virtual knowledge networks at European level for rare diseases, the so-called European Reference Networks (ERNs). The LUMC participates in 14 of the 24 existing ERNs. The Duchenne Center Netherlands is a collaboration between the LUMC, Radboud umc and Kempenhaeghe.