ASIM issues statement to BMG (German Federal Department of Health) – ASIM supports DIG PKU’s initiative to alter §116 b SGB V: term „children“ must be changed to „patients“

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!

2020_11_12 Statement BMG

Infection Risks with COVID-19 in Inborn Errors of Metabolism – Recommendations

Infektionsrisiken durch COVID.docx

2021

Annual Meeting
18th April 2021
Inborn Errors of Metabolism – What are we Facing?
Organized by: ASIM in cooperation with DGIM (German Society for Internal Medicine)
Location: Wiesbaden
Preliminary Agenda ASIM-Symposium 2021

 

ASIM Councils

Expert-Network Promotes Advancement in Quality of Medical Care

ASIM Initiates Regular Exchange Between Experts in Inborn Errors of Metabolism

„Not only patients and their family members benefit from the mutual exchange of views and experiences. In order to meet the need for regular exchange on clinical issues in the care of adult patients, the Association for the Study of Inborn Errors of Metabolism (ASIM) has extablished telephone conferences for physicians, dieticians and other experts in inborn errors of metabolism.

These “ASIM Councils” will prospectively be held two to four times a year. ASIM experts can discuss any clinical questions and problems. These may relate to diagnostics, treatment or ethical questions including specific anonymized individual cases.

As a result of the need-based exchange of information, these councils may make an essential and immediate contribution to improving the quality of medical care for adult patients. Not only physicians who have previously had little experience with patients suffering from in born errors of metabolism benefit from the knowledge of their experienced colleagues. Concomitantly, the ASIM gains an overview of the most important questions and treatment aspects, conducive for further continuing medical education and research projects….“ 1

1 published in the magazine PHEline by the Association DIG PKU (German Interest Group Phenylketonuria and Related Inborn Errors of Metabolism e.V.)

Further informationen on ASIM-Councils can be found under the heading: ASIM-Councils

2020

23rd/24th October 2020
EGS – Galnet 2020 Zoom Webinar on the 23rd and 24th of October 2020 (Galactoseamia)
EGS – GalNet 2020 online conference

 

01st February 2020
Pregnancy and PKU (Curriculum Modul B)
Training Course to Prevent maternal PKU-Syndrom

Organized by: Universitätsklinik Leipzig
Stoffwechselzentrum der Kinder- und Erwachsenenmedizin
Ort: Leipzig
Vorbereitung von PKU-Patientinnen auf eine Schwangerschaft – Leipzig

 

26th April 2020
CANCELED:  Annual Meeting 2020
Inborn Errors of Metabolism – What are we Facing?
Organized by: ASIM in cooperation with DGIM (German Society for Internal Medicine)
Location: Wiesbaden, Germany
Agenda ASIM-Symposium 2020 – GB

 

17th July 2020
3. PKU in Focus
New Horizons: Palynziq in Deutschland

Organized by: Biomarin
Type of Meeting: Webinar
ProgrammPKUimFokus Webinar (deutsch) FINAL

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.

2019

5th May 2019
Annual Meeting 2019
Fatigue and Exercise Intolerance:
Considering Rare Inborn Errors of Metabolism
Organized by: ASIM in cooperation with DGIM (German Society for Internal Medicine)
Location: Wiesbaden, Germany

Agenda ASIM-Symposium 2019

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28th September 2019
Pregnancy and PKU (Curriculum Modul A)
Training Program for the Prevention of Maternal PKU Syndrome

Organized by: Universitätsklinik Leipzig
Stoffwechselzentrum der Kinder- und Erwachsenenmedizin
Location: Leipzig, Germany

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

 

2018

16 th April 2018
Annual Meeting 2018
Inborn Errors of Lipid Metabolism: Rare Facts on Cholesterol & Co.
Organized by: ASIM in cooperation with DGIM (German Society for Internal Medicine)
Location: Mannheim, Germany

Flyer Programm-ASIM-Sympos2018_20180316

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07th November 2018
14th Metabolism Colloquium
Integration of C-Centers into NAMSE – Phenylketonuria

Organized by: Interdisziplinäres Stoffwechsel-Centrum
Charité Univ.medizin, Campus Virchow Klinikum
Location: Berlin

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26th September 2018
13th Metabolism Colloquium
Integration of C-Centers into NAMSE – Mucopolysaccharidosis

Organized by: Interdisziplinäres Stoffwechsel-Centrum
Charité Univ.medizin, Campus Virchow Klinikum
Location: Berlin

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06th June 2018
12th Metabolism Colloquium
Integration of C-Centers into NAMSE – Morbus Pompe

Organized by: Interdisziplinäres Stoffwechsel-Centrum
Charité Univ.medizin, Campus Virchow Klinikum
Location: Berlin

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09th May 2018
Fundamentals of Human Genetics and Human Genetic Studies in
Diabetes Mellitus, Lipid Metabolism Disorders and Cardiovascular Ciseases

Organized by: Deutsche Diabetes Gesellschaft (DDG)
Location: Berlin

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25th April 2018
11th Metabolism Colloquium
Integration of C-Centers into NAMSE – Morbus Gaucher

Organized by: Interdisziplinäres Stoffwechsel-Centrum
Charité Univ.medizin, Campus Virchow Klinikum
Location: Berlin

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28th February 2018
10th Metabolism Colloquium
Integration of C-Centers into NAMSE – Launch Event

Organized by: Interdisziplinäres Stoffwechsel-Centrum
Charité Univ.medizin, Campus Virchow Klinikum
Location: Berlin