Still undiagnosed after undergoing a genetic examination at a university hospital
If an undiagnosed child has not been diagnosed despite the child having undergone a genetic examination in the past year at a university hospital, we recommend parents to ask for a referral for a second opinion to a UDP (Undiagnosed Diseases Program) a diagnostic center with specialists in diagnosis. In Sweden there is Karolinska-UDP, where Professor Geneticist Ann Nordgren and her team are working to solve the unsolved undiagnosed diseases.
Professor Ann Nordgren collaborates with specialists around the world
Professor Nordgren is very skilled and she and her team are considered to be the best in diagnosing in the country. But even abroad, Karolinska-UDP and Ann Nordgren have a very good reputation. The UDP team collaborates with Prof. geneticist Anna Wedell at the Centre for Congenital Metabolic Diseases (CMMS) at Karolinska Hospital. CMMS consists of a number of expert teams working with various rare diseases and disease groups.
Shares information in the UDNI network,(Undiagnosed Diseases Network International)
Prof. Nordgren is a member of UDNI. This means that she and her team work with specialists from all over the world and share newly discovered gene abnormalities and diseases. Should the child not receive a diagnosis despite having undergone a genetic examination with weekend resequencing at Karolinska UDP, the parents can apply for a UDP abroad. There is a small chance that the child will get a diagnosis but there is a chance.
Apply to a UDP abroad
Parents can apply to one of the different UDPs in the world. The diagnostic investigation on a UDP is intended to be free of charge even for foreign patients. It is important to check it early in the application process, as some UDP may deviate and thus charge for the care.
Wilhelm Foundation's rekommendation är att söka till ett UDP utomlands om barnet fortfarande inte har någon diagnos efter att ha varit på Karolinska-UDP, även om chansen till diagnos minskat. Det är inget krav att man måste ha varit på ett UDP innan man söker sig utomlands, men vi rekommenderar det.
Det är en ansökningsprocess att söka till ett UDP utomlands och det är inte någon garanti att ditt barn blir antagen. Wilhelm Foundation vill vara behjälplig med råd och stöd vid ansökan men kan tyvärr i dagsläget inte bistå med ekonomisk hjälp.
What is needed to search
Most UDPs abroad, want the patient to have a doctor in their home country who is prepared to inform doctors abroad about the patient and also write a "referral". After the investigation is complete, the doctor should also be aware that UDP's doctor wants the opportunity to discuss about the patient's continued care. In order to be a possible candidate for the top spots abroad, what can be investigated should preferably be done.
The Wilhelm Foundation would also like to clarify that all the studies that have previously been carried out in the home country will be reviewed by the specialists at UDP, to see if they can possibly find anything there that leads to diagnosis, which has happened, which is why it is important to send all the material when UDP requests it.
Should your child be admitted, it will be five days of admission with a day of practice when doing MRI, biopsies but also blood tests. It happens that they also do if examinations the child made earlier in the home country. It is important to keep in mind whether there is any charge for the investigations. The trip is paid for by the patient himself and possibly subsistence for the parent.
The Wilhelm Foundation tries to help parents with undiagnosed children where verifiable, which one must be aware of is that it unfortunately takes time to seek diagnosis both in Sweden and abroad.
Application documents for a UDP abroad
You are most welcome to contactWilhelm Foundation