Newly diagnosed – first steps after diagnosis
Help for affected individuals or their relatives who have just received an NBIA diagnosis.
The first days, weeks and months after the diagnosis are tough. Everything is turned upside down and due to the rarity of the disease it is very difficult to get more precise information. One staggers between uncertainty and shock. We from Hoffnungsbaum e.V. also went through this, because we are also either parents and relatives of affected people or affected ourselves. It is all the better that you have found us, because we can help you with the first steps to deal with this diagnosis. You are not alone!
Our goal is to help researchers find better therapies that will halt the progression of disease and ideally find a cure for our NBIA diseases. We bring researchers, doctors and patients together and are there for you - as personal support and for your questions about the NBIA diagnosis you have received in your family. We also provide information about the current state of research. We can also put you in contact with other affected people who are going through the same thing.
We recommend that you go through the following steps in the near future. Valuable information is linked at the respective place.
Contact Hoffnungsbaum e.V.
Please contact us - We are parents of people affected by NBIA and have gone through similar experiences, but we are now very well informed about NBIA and have gained a lot of experience. We will be happy to help or provide you with information.
German speeking families can get Findings and consultation folder . This includes up-to-date information on your NBIA variant and the possibility of systematically organising your doctor's letters and findings in it.
Subscribe to our Hoffnungsbaum to get valuable current information about NBIA.
Through a participation in our German Hoffnungsbaum-Family network you can get in contact with other affected persons.
NBIA Disorders Association
If you speak English, you can also use the information offered by the NBIA Disorders Association. This is the patient organization for NBIA in the USA. You can subscribe to the Newsletter and if you would like to exchange information with affected persons worldwide, you can also subscribe to the Family network of the NBIA Disorders Association .
Contact the Friedrich-Baur-Institut
In the Friedrich Baur Institute in Munich NBIA expert Prof. Dr. med. Thomas Klopstock heads a team of doctors who look after NBIA patients. This is where all information on international NBIA research comes together and the institute is the headquarters of the international NBIA patient register.
If you would like to make an appointment for an appointment and have yourself or your affected child included in the NBIA patient register, please send an e-mail to:
fbi.mito@med.uni-muenchen.de
Registration with NBIAcure
NBIAcure is the website of the leading NBIA researchers at the University of Oregon in Portland, USA, who are also networked with the Friedrich Baur Institute. If you are interested register with NBIAcure. Then you will get information in English about the NBIA research being conducted there.
Find out more about the individual NBIA diseases
At Info about NBIA you will find comprehensive information and further links to the different NBIA diseases.
Genetic consultation
To get answers to questions about the genetics of NBIA disease in your family and its effects on your life, we recommend a genetic consultation with a specialist in human genetics of your choice. Here you will find a general Overview of genetics in NBIA diseases.
Find even more information worldwide
You can find more information about NBIA on the Internet:
- NBIA Disorders Association
- NBIAcure
- Orphanet (use search function)
- GeneReviews® (Overview of NBIA and further articles on individual NBIA diseases)
- PubMed (Search engine for medical research articles)
