Foundation for children with rare conditions: Research that heals
14 Jun 2023
The Care for Rare Foundation at the Dr. von Haunersches Children’s Hospital in Munich sees research into and the treatment of rare diseases in children as the key to a new way of thinking in medicine.
“In the medical world, children with rare conditions are treated like poor relations,” says Professor Christoph Klein, Director of the Pediatric Clinic and Outpatient Unit at LMU’s Dr. von Haunersches Children’s Hospital. Many young patients come here after an odyssey that has taken them to countless doctors.
The less common a disease, the harder it is to find experts who know how to diagnose and treat it. Based on the principle that no child should suffer because a disease is too rare and has therefore been the object of too little research, Klein therefore set up the Care for Rare Foundation in 2009. The foundation helps bring hope of healing to children with rare diseases – across national borders and irrespective of their origins or financial situation.
The first patient may be able to help many others
“Our research often begins with just one child from a single family,” Klein notes. “We invite them to take part in research projects. And ideally, this cooperation will not only help the individual child whose illness we are studying, but will also lay a foundation on which we can cure patients who come to us later with completely different diseases.”
One example is a boy by the name of Sevkan, who was six years old when he and his family approached the Care for Rare Foundation looking for help. “Sevkan had spent half his life in hospitals," Klein recalls. “For a total of three years, he was treated at twelve different hospitals for severe inflammation of the bowel that no one was able to get a handle on. The doctors had tried everything in the book, from nutrition therapy to anti-inflammatory medication to the surgical removal of part of his colon. But nothing helped.”
When Sevkan’s family turned to the Care for Rare Foundation, it seemed that they had exhausted all the known therapeutic options. With the aid of the foundation, Klein therefore launched a research project: A team of doctors set out to discover what it was that was making the boy so seriously ill. Ultimately, Klein and his colleagues found a tiny flaw in Sevkan’s genome. “The severe inflammation of the colon came about because an antenna on his immune cells wasn’t working,” Klein explains. “Once we had found that out, we were able to select a completely new method of treatment and replace Sevkan’s stem cells. As a result, the boy’s bowel inflammation healed up in a few weeks.”
Sevkan’s recovery encouraged Klein to invite other hospitals to share in studying the causes of severe bowel inflammation in children. Since then, the international research consortium that came together under the aegis of the Care for Rare Foundation has examined more than 3,000 children and found a host of new genetic defects for which new therapeutic approaches are now being tried out systematically. “And all because of little Sevkan,” Klein muses. “He is our hero.”
We are realizing that children who stood in the background for so long are increasingly become pioneers of a new way of thinking in medicine.
Pioneering a new way of thinking in medicine
Sevkan’s case illustrates one possible way of approaching research into rare conditions. Taking the time-consuming and resource-intensive study of a single individual’s rare disease as their starting point, the physicians were able to gain new insights not only into this particular illness but into many other diseases besides. “We are realizing that children who stood in the background for so long are increasingly become pioneers of a new way of thinking in medicine,” Klein says. “In this form of personalized medicine, we look very carefully at the individual cases. And precisely by using this personalized approach, we can gain a much better understanding of the individual expressions of complex diseases – based on which we can then draw generally valid conclusions.”
Many of the more than 8,000 rare conditions known to date have one thing in common: They can be traced back to a single genetic flaw. Most genetic illnesses manifest themselves in childhood and youth. And these monogenetic diseases open up new avenues of research. “When you observe diseases in adults and examine what people die of – cardiovascular problems, for example, or diabetes – you find thousands of genetic variations, a chaotic web of signal paths in the cells,” Klein continues. “There are broken proteins. There are metabolic processes or receptors that don’t work. But it is very difficult to understand why it all happens. With these children, we can conduct more focused research because all changes are attributable to a single gene. And that also helps us better understand the complex changes in conditions that are common among adults.” Klein’s words perfectly explain why researching rare diseases among children is of great importance to the health of adults, too.
University of Munich Hospital – groundbreaking for “New Hauner”
Christoph Klein is grateful that the Neues Hauner (New Hauner), to be built in the coming years, will give pediatric medicine in Munich a new and modern children’s hospital. That alone will not solve the problems faced by pediatric medicine, however. In medical care, as in other areas, the rule of thumb is that “everything to do with children suffers from structural shortcomings”. Which is precisely why the Care for Rare Foundation plays such a pivotal role, because the foundation leaves room for fresh thinking. “The healthcare industry rewards processes that use few people and are technology-intensive, that can be scheduled like a production line. Anyone who works with children knows that this doesn’t work with them,” Klein stresses.
While a district hospital will deal with something like 200 different diseases in a normal day, the mission of the Dr. von Haunersches Children’s Hospital is to be able to cope with all 8,000 or so rare conditions – not only in terms of clinical care, but also on the research level. That presupposes setting aside suitable space for scientific study – space that is not factored into the current plans for the new hospital. Klein is therefore pinning his hopes on philanthropic engagement: At the New Hauner, he wants to establish a Care for Rare Research Center that forges high-level links between clinical practice and research and connects pediatric medicine in Munich to a network of international partners. As part of the new German Center for Child and Adolescent Health (DZKJ), the hope is that it will transform yesterday’s “poor relations of medicine” into tomorrow’s pioneers of personalized precision medicine.
Foundations to support the children’s hospital Dr. von Hauner
To translate his vision of providing in-patient care to children and youngsters, Dr. von Hauner established an “association of noble-minded people” in 1846. Since its inception, many benefactors have joined its ranks, setting up foundations large and small at LMU to support the children’s hospital that bears the doctor’s name.
In addition to the Care for Rare Foundation, the following foundations and endowments are also parties to the cause:
• Retzbach & Meth Foundation, supporting medical treatment and care for children suffering from cancer, cystic fibrosis, rheumatism and other serious illnesses
• Marianne Schmidbauer-Landes Foundation, supporting medical treatment and care for seriously ill children and support their families
• Margarete Eder Foundation, supporting treatment and care for children suffering from cancer and providing financial support to their relatives
• Estate of Augusta Welser, supporting the oncological department of the Dr. von Haunersches Children’s Hospital
• Christina Bergmann Foundation, supporting children’s cancer research
• Prinz Lennart von Hohenzollern Foundation, supporting research into congenital metabolic diseases