Mikk and Helene Cederroth, the founders of the Wilhelm Foundation became Swedish care heroes in 2020 three months ago.
The news reached as far as Italy's Ministero della Salute - Istituto Superiore di Sanità and an article was published in their magazine Rare diseases after an interview with Helene.
Undiagnosed rare diseases, Swedish Cederroth couple 'heroes of the year' for commitment and care of children with unknown conditions
It must have sounded really strange for Helene and Mikk Cederroth to be called "heroes" when they were awarded the "Care Heroes of the year 2020" prize on December 17. During the award ceremony at the Swedish Gala, dedicated to those who have left a mark on the lives of others, they said that they do not feel like heroes, but that they are at the service of the real heroes: children affected by unknown diseases and, as such, undiagnosed.
An enemy, that of undiagnosed diseases, visible only in the symptoms that it causes and in the signs that it leaves, but unknown to such an extent that it cannot be called by name, therefore it cannot be the target of drugs and therapies, guilty of physical suffering for children, psychological for parents who see their children worsen without being able to do anything, and a harbinger of great loneliness because, if to rarity is added a clinical picture so complex that it is not possible to place the disease in any known group of diseases, then it also becomes difficult to find a case the same throughout the world.
Helene and Mikk ran into this enemy three times, having lost three of their four children (only the first was born and remained healthy) to a disease, to this day, undiagnosed. A story in which, however, despair has not had the last word, because Mr. and Mrs. Cederroth have been able to put their experience at the service of others, through the Wilhelm Foundation, which tirelessly supports hundreds of families in the attempt to obtain a diagnosis and all the help they need: access to medical facilities, aids for the disabled, tools and rehabilitation therapies.
Helene, how important is it to get a diagnosis? And why is it important to get it early?
"It is critical to receive a diagnosis to know what the disease is and what can and should not be done to treat the child. A diagnosis gives the family a prognosis and also knowledge of the risk to present or future siblings. Time is extremely important to prevent irreversible damage and, in the worst case, even death."
It all begins shortly after Wilhelm's birth and Wilhelm's story repeats with Hugo and Emma....
"At one year of age Wilhelm, our second child, was exhibiting epilepsy, asthma and severe stomach problems. The doctors told us that he would get better as he grew, as the results of all the tests and medical investigations were normal. They also told us that it was not a genetic disease. But Wilhelm got worse and at one point he developed dementia as well, so young...we noticed because he no longer recognized his grandmother. Our third son, little Hugo, had his first seizure six hours after birth, at four months he had the same stomach problem as Wilhelm, and at six months he had an asthma attack. Again, test results showed no abnormalities. We were told that if we had a baby girl she would be healthy. I got pregnant again, but our Emma had her first seizure just 30 minutes after delivery. Wilhelm, Hugo, and Emma couldn't eat regular food because they had so much pain, coughing, and a very swollen stomach, and no one was able to tell us why. They ended up taking Neocate (a complete nutritional solution) and didn't eat anything else. It tasted and smelled so bad that we gave them this solution in Coca Cola cups with lids and straws to minimize the smell, and we tried to make sure that all meals were memorable: for example, every day at 11 we went to the woods 50 meters from the house to have a picnic. Despite the difficulties the children had, we found our way of life and our children were wonderful! We moved to the country and built a house that became our little paradise, surrounded by nature. We never stopped looking for an answer. We went to Johns Hopkins Hospital in the US and Great Ormond Street in the UK, biological samples were sent all over the world, but no one was ever able to find anything, not even a clue, much less a diagnosis. Wilhelm died at age 16. A year later it was Emma's turn, she was six years old and had been in and out of a coma many times over the past year until she never woke up. Two years later the same fate befell Hugo, who was 10 years old. All three of our children died of the same undiagnosed disease, unknown to this day. Shortly after Wilhelm's funeral, we started the Foundation that bears his name: through its activities, our children are always with us to help others."
What are the Wilhelm Foundation's projects?
"Our dream was to be able to help other children with undiagnosed diseases by organizing a world congress that would bring together specialists to collaborate. The first congress of this kind was held in Rome right at the Istituto Superiore di Sanità in 2014 thanks to Dr. Domenica Taruscio, Director of the National Centre for Rare Diseases of ISS, and Dr. William Gahl, Director of the National Human Genome Research Institute of NIH in Bethesda (USA). At the end of the congress, Domenica suggested the formation of an international network that everyone supported: a dream come true! Thus was born the Undiagnosed Diseases Network International (UDNI), a reference center for all the Undiagnosed Diseases Program (UDP), i.e. those national programs adopted by some clinical centers to study these unknown diseases. To date, in addition to the founding countries, Italy and USA, many other European countries participate in UDNI, including Sweden, Austria, Belgium, Bulgaria, France, Germany, Hungary, Spain, Switzerland, the Netherlands, and non-European countries, such as Turkey, Thailand, Sri Lanka, Philippines, New Zealand, Mali, Korea, Japan, Israel, India, Hong Kong, Georgia, Ghana, Ecuador, China, Canada, Brazil, Australia. Through the UDNI website, maintained and hosted by the ISS, parents can fill out an application in which, after describing in detail the condition of their child, they can ask for further investigations at the UDP of their country, in order to finally find a diagnosis; through the same network and for the same purpose, doctors, geneticists and researchers can enter their data and their findings in a database shared globally, thus finding, perhaps, "a second patient" with similar characteristics and, perhaps, increase the knowledge on a particular disease.
In addition, the Wilhelm Foundation has a photo project to help children who have already been evaluated by the UDP but have not yet received a diagnosis. The project aims to give them a second chance: that is, to find "the second patient" also through physical traits, by showing photographs of children taken by photographer Rick Guidotti, accompanied by their clinical history, at world congresses and on the UDNI website.
Another thing we care a lot about is the situation in developing countries and among indigenous peoples, so we participate in the UDNI's working group in developing countries."
Helene, you and your husband were recently named Care Heroes of the year 2020. What does this award mean?
"It means a lot to all children with undiagnosed diseases and their families, as it raises awareness about these diseases. The message we want to give is to never lose hope, in fact to nurture it even through the creation of more UDPs participating in the UDNI network, where the necessary collaboration between specialists from all over the world allows more children to be diagnosed".
