Current Issues

Press Release: Rare Diseases – UKD-Physician Prof. Dr. Stephan vom Dahl receives German Cross of Merit

Commitment for „Orphan Diseases“: Düsseldorfer Outpatient Clinics for Inborn Errors of Metabolism in Adults is one of the Largest Medical Centres in Germany

Press Release, 14th February 2018

Prof. Dr. Stephan vom Dahl mit dem Bundesverdienstkreuz. In der Ambulanz für angeborene Stoffwechselkrankheiten bei Erwachsenen am UKD werden jährlich über 450 Patientinnen und Patienten betreut. Die Ambulanz war eine der ersten ihrer Art in Deutschland. Foto: UKD/Kesting

Prof. Dr. Stephan vom Dahl mit dem Bundesverdienstkreuz. In der Ambulanz für angeborene Stoffwechselkrankheiten bei Erwachsenen am UKD werden jährlich über 450 Patientinnen und Patienten betreut. Die Ambulanz war eine der ersten ihrer Art in Deutschland. Foto: UKD/Kesting

Düsseldorf (ukd/dre). As an expert in rare metabolic diseases, he cares for patients from all over Germany at the University Hospital Düsseldorf (UKD). However, his volunteer work for patients suffering from rare diseases goes far beyond that: at the end of January, UKD physician Prof. Dr. med. Stephan vom Dahl received the Cross of Merit on the ribbon of the Order of Merit of the Federal Republic of Germany.

Prof. Dr. Stephan vom Dahl works as a senior physician at the Department of Gastroenterology, Hepatology and Infectiology of the UKD (clinic director: Prof. Dr. Dieter Häussinger). More than 450 patients are taken care of each year at the Clinic for Rare Metabolic Diseases in Adults. The outpatient department was one of the first of its kind in Germany. „Our work for these patients is also an important pillar of the Centre for Rare Diseases at the UKD.“ In this clinic-wide centre, experts from different disciplines work closely together, for example, from Department of Human Genetics or the Children’s Clinic of the UKD.

Currently, around 6,000 different diseases are counted among the rare diseases. Overall, it is estimated that up to eight percent of the population is affected by a rare disease. Prof. von Dahl: „Rare diseases are therefore quite a common diagnosis in its entirety. However, because of the rarity and complexity of each disease, many people, and especially their loved ones, often have to go a long way before a medical professional makes an accurate diagnosis and they can benefit from adequate treatment.“

For Prof. vom Dahl, close and often long-term cooperation with patients and their relatives is important: „Of course, it can take a long time to find a solution to a complex problem. But if you have found this solution and the therapy works: This is an enormous and rapid improvement for the lives of patients and their relatives.“ In the light of these facts, Prof. Dahl volunteers in numerous patient associations, such as the Gaucher Society Germany , the Hemochromatosis Association Germany e. V. (HVD) and the Liver League e.V. based in Düsseldorf.“ He is also editor of the scientific book „Inborn Errors of Metabolism in Adults“.

Together with his colleagues, „Transition Consultation-Hours“ for young patients are offered, who were previously taken care of by pediatricians, but have now reached adulthood. „So we can closely accompany the transition from pediatric medicine to adult medicine. This is especially important for the patients and their families, since they have often been cared for by ‚their‘ doctor for a large part of their lives and now have to establish a new relationship of trust.“ The need for specialized outpatient clinics is high: „Our outpatient clinic for inborn metabolic diseases in adults is one of the largest of its kind in Germany. But even here patients have to wait around six months for an appointment.“

Having been awarded the Federal Order of Merit, Prof. vom Dahl likes to think of it as additional motivation for his work in the clinic, but also for his volunteer work outside the clinic. Clinic director Prof. Dr. Dieter Häussinger agrees: „The award for Prof. Dahl is a great recognition for the work with the patients, who often have a long odyssey behind them, until they meet the right expert. And even then, the work is often arduous, requires patience and enormous expertise. I am very glad that this commitment has now been acknowledged in this form.“

Kontakt:

Prof. Dr. med. Stephan vom Dahl
Senior Physician
Department of Gastroenterology, Hepatology and Infectiology
(Clinic director: Prof. Dr. Dieter Häussinger)
University Hospital Düsseldorf
Senior Physician Office: +49- (0)211 / 81-04041
stephan.vomdahl@med.uni-duesseldorf.de

Informationen zur Ambulanz für angeborene Stoffwechselkrankheiten bei Erwachsenen am UKD gibt es hier.

Terminhinweis:

Rare Disease Day
24.02.2018 – 10:00 bis 14:00 Uhr

Das Netzwerk NRW-ZSE lädt Patienten, Angehörigen und Ärzte ein zum Informationstag
in das Haus der Ärzteschaft (Saal), Tersteegenstraße 9, 40474 Düsseldorf

ASIM appreciates the longer-term funding of the NAMSE office

Petition successful

https://www.change.org/p/vernetzteversorgungjetzt-menschen-mit-seltenen-erkrankungen-können-nicht-länger-warten/u/23366958?cs_tk=ATd7XtShZyJGM0YzulsAVNKDu4VOFe_BZGzde7fqtA%3D%3D&utm_campaign=603ba56e08534bf29c378c1f0e4c2c0e&utm_medium=email&utm_source=petition_update&utm_term=cs

Petition of the DIG PKU for the establishment of specialized medical outpatient clinics also for adults with rare metabolic disorders rejected

Adults with inborn errors of metabolism continue to have no legal claim to specialist medical care – § 116 b paragraph 2 of SGB V remains unchanged. The ASIM will continue to remain politically active in order to repeal this unfounded and absurd restriction in §116.

Press Release of the DIG PKU concerning TSVG

In a query addressed to politicians, the DIG PKU demands the warranty of an adequate care for patients with inborn errors of metabolism

To Politics

 

Press Release: European Recommendations for Treatment of Patients Suffering from Phenylketonuria

ASIM Adopts European Recommendations for Phenylketonuria
The ASIM approves of the publication of the new guidelines  for diagnosis and treatment of patients suffering from Phenylketonuria from January 2017. Published in LANCET Diabetes & Endocrinology, January 2017. The ASIM recommends the implementation of the new guidelines to all Centres for the Treatment of Metabolic Diseases.

http://thelancet.com/journals/landia/article/PIIS2213-8587(16)30320-5/abstract

Press Release by the G-BA / Opinions of the ASIM

The press release No. 09/2017 by the Common Federal Committee, Germany (Gemeinsamen Bundesausschuss) under §1 SGB V: Dietetic Therapy for Patients Suffering from Rare Inborn Errors of Metabolism and Mucoviscidosis to be available on presription

Pressemitteilung Nr. 09-2017 vom 16. März 2017 des G-BA – Ernährungstherapie (Press Release)

Statement of the ASIM

The Statement of the ASIM on the Medical Therapy Guidelines (Heilmittelrichtlinien – HeilM.RL) for the Common Federal Committee, Germany (Gemeinsamen Bundesausschuss – G-BA)

Outpatient nutrition consultation for rare diseases and cystic fibrosis

may be requested at the ASIM office at
Email: I.Peukert@outlook.de

Alteration of § 116b SGB V

SGB V § 116b addresses the outpatient health care by medically specialized consultants.
No. 2 specifies rare diseases and conditions with correspondingly few numbers of cases that form part of this paragraph. Listed below j) is:
Medical specialist care for children with inborn errors of metabolism

In conjunction with other registered medical associations such as the APS, the ASIM claims a modification of this paragraph. Inborn errors of metabolism do subsist for a lifetime. Especially to adults suffering from these diseases no adequate medical treatment is rendered in Germany. The limitation to children needs to be abolished in this paragraph!