OrphanAnesthesia

• Síndrome de bridas amnióticas (Amniotic band syndrome)
• Enfermedad de Behcet (Behcet's disease)
• Dermatomiositis (Dermatomyositis)
• Síndrome de Kartagener (Kartagener syndrome)

• Autism
• Walker-Warburg syndrome
• Becker's disease - Myotonia congenity recesiva

• Argininosuccinate lyase deficiency -  deficiencia de Argininosuccinatoliasa
• Arthrogryposis multiplex congenita - Artrogriposis múltiple congénita
• De Barsy syndrome - sindrome de De Barsy

• Freeman-Burian syndrome
• Rubinstein-Taybi syndrome
• Walker-Warburg syndrome

• de Barsy syndrome
• Niemann Pick type C
• Behcet’s disease
• Congenital diaphragmatic hernia
• Kartagener syndrome
• Gaucher syndrome
• Systemic onset juvenile idiopathic arthritis
• McArdle disease

 New anaesthesia guidelines have been published online for the following rare diseases:

• McCune Albright syndrome
• Klippel-Trénaunay syndrome
• Cerebrotendinous xanthomatosis
• Erdheim-Chester disease
• campomelic dysplasia
• Larsen syndrome
• Huntingtons' disease
• trisomy 18
• biliary artresia

• Miller-Dieker syndrome
• Bullous pemphigoid
• stress cardiomyophathy
• deletion 9p syndrome
• Stickler syndrome
• Inclusion body myositis 

Und wie geht es Ihnen?

Die bisherigen Schwerpunkte von OrphanAnesthesia liegen in der Erstellung von Handlungsempfehlungen „durch Ärzte für Ärzte“. Aber wie ergeht es Patienten und deren Angehörigen bei Narkosen? Wir glauben, dass wir die Versorgung bei seltenen Erkrankungen nochmals wesentlich verbessern können, wenn wir mehr über Ihre persönlichen Erfahrungen lernen.
 
Wir haben unter der Adresse:  https://www.soscisurvey.de/patientsafetycard-dgai eine Befragung von ca. 5-10 Minuten Dauer vorbereitet, die hierzu Klarheit schaffen wird. Dabei richtet sich der Fragebogen auch an Betroffene, die bislang keine Narkose erhalten mussten.
 
Wir danken bereits jetzt für Ihre Teilnahme an unserer Befragung und freuen uns über Ihre Kritik und Anregungen. Bitte kontaktieren Sie uns unter: This email address is being protected from spambots. You need JavaScript enabled to view it..

Weitere Informationen unter: Patienteninfoschreiben

We would like to inform you that the following anaesthesia guidelines have been published online recently: 

• Costello syndrome 
• Arrhythmogenic right ventricular dysplasia
• Dermatomyositis
• Neuromyelitis optica spectrum disorder
• Beckers' disease
• Conjoined twins
• Glutaric acidemia type 1

We would like to inform you that our new OrphanAnesthesia App is online now. The app can be accessed at: http://app.orphananesthesia.eu/. We would like to thank Draeger for their kind support. 

The free-of-charge mobile application is available for iOS, Android and Windows. Our anaesthesia recommendations for rare diseases are therefore even easier accessible and easier to handle for physicians worldwide. 

• Eisenmenger's syndrome 
• Segawa's dystonia
• Biotinidase deficiency
• Escobar syndrome

• Osteopetrosis
• Friedreich’s Ataxia
• Neuronal ceroid lipofuscinosis
• Maroteaux Lamy syndrome
• Timothy syndrome
• Autism spectrum disorder

Starting from April 2016, we offer a new "patient safety card" for all hospitals, patients and support groups dealing with rare diseases. 
Patients or doctors can fill-in the specific name of the rare disease. 

The card is made to alert the anesthesiologist to problems that might occured during anesthesia of a patient with a rare disease. The card should be given to the anesthesiologist before anesthesia. It should be carried by the holder in case of emergency surgery. 

The anesthesiologist will be able to get informed of our OrphanAnesthesia recommendations before anesthesia. 

The patient safety card is editable and ready-to print. It can be downloaded at: 

 Patient Safety Card

• Pantothenate kinase-associated neurodegeneration 
• Bronchopulmonary dysplasia 
• Pompe disease
• 22q11.2 deletion syndrome 
• Proteus syndrome

• Paroxysmal nocturnal haemogloburina
• Treacher Collins syndrome
• Sturge-Weber syndrome
• Stüve-Wiedermann syndrome
• Tracheal agenesis
• Familial Dysautonomia

• Kabuki syndrome
• Systemic scleroris
• Rett syndrome

• Hurler syndrome
• Glucose-6-phosphate dehydrogenase deficiency
• Fragile X syndrome
• Limb-girdle muscular dystrophy
• Liddle's syndrome
• Pfeiffer syndrome
• Moebius syndrome
• Gomez-Lopez-Hernandez syndrome
• Catecholaminergic polymorphic ventricular tachycardia
• TAR-syndrome
• Sanfilippo syndrome

We are pleased to inform you that 3 new anaesthesia guidelines are online: 

-Noonan syndrome
-Smith-McCort dysplasia
-Antiphospholipid syndrome

We'd like to thank all authors and reviewers for their participation. 

Dear readers, 

Please note that another two anaesthesia guidelines have just been published online: 

Fibrodysplasia Ossificans Progressiva
Hunter syndrome
 

• Lenz-Majewski Hyperostotic Dwarfism
• Myasthenia gravis

Starting with issue 5/2014, we will publish the OrphanAnesthesia recommendations as a monthly supplement of the medical journal A&I (Anaesthesiologie & Intensivmedizin). Thus they can be accessed and downloaded online via www.ai-online.info. 

As being part of the journal, the recommendations will also be quotable. Please find a list of all recommendations published in A&I on: http://www.ai-online.info/aionline/Orphsuppl. The recommendations will be published in alphabetical order. 

Moreover, we are pleased to inform you that our anaesthesia recommendations for sickle cell disease (SCD) have just been completed on http://www.orphananesthesia.eu/en/rare-diseases/published-guidelines/cat_view/61-rare-diseases/60-published-guidelines/104-sickle-cell-disease.html

Dear Colleagues, 

At the moment we are about to explore different forms of financial facilities for our voluntary project OrphanAnesthesia. We would like to establish some fundraising / crowdfunding facilities. In order to improve and reinforce our publicity for OrphanAnesthesia, we would like to ask all contributors and/or interested readers to send us all relevant information you might have. 

Has there been a treatment case in your hospital which has been successfully managed based on an OrphanAnesthesia recommendation? Can you tell us an example when OrphanAnesthesia has been useful in your clinical practice for the management of a rare disease? 

Of course all data would be used anonymized and after approval. Maybe there would even be the chance of getting in contact with a patient with a rare disease so that we could be able to place a success story on our website and/or use it for PR activities. (of course subject to patients' approval). This campaign is intended to draw the public attention to OrphanAnesthesia. 

Please feel free to get in contact with us! We are thankfully looking forward to receiving any kind of information, e.g. a success story, some clinical background story etc. based on OrphanAnesthesia! 

---> This email address is being protected from spambots. You need JavaScript enabled to view it.

Moreover, the OrphanAnesthesia Team wants to wish HAPPY EASTER to you all! 

We are pleased to announce that our anaesthesia recommendations for Congenital Central Hypoventilation Syndrome (Ondine's curse) has just been published online. 

We are pleased to inform you that our anaesthesia recommendations for patients suffering from Charcot-Marie-Tooth disease have just been published online. 

http://www.orphananesthesia.eu/en/rare-diseases/published-guidelines/cat_view/61-rare-diseases/60-published-guidelines/101-charcot-marie-tooth-disease.html

We are pleased to inform you that yet another two Spanisch translations have been published:

-Hipertermia maligna
-Enfermedad multiminicore

OrphanAnesthesia becomes thus more and more international.

We are very glad to announce that 5 Spanish translations of our anaesthesia recommendations have already been published online: 

-CADASIL
-Distrofia muscular de Emery-Dreifuss (DMED)
-Central Core Disease
-Distrofia muscular de Duchenne
-Hipertermia maligna

We would like to thank Dr. Carlos Errando for his kind contribution. We consider the Spanish translations very useful to attract even more international readers from Spanish-speaking countries, too. Of course everyone will be welcome to particpate in OrphanAnesthesia as a translator. Please do not hesitate to get in contact with us. 

We are pleased to announce that another guideline has just been published online: 

Malignant Hyperthermia (MH) is now available at http://www.orphananesthesia.eu/en/rare-diseases/published-guidelines/cat_view/61-rare-diseases/60-published-guidelines/99-malignant-hyperthermia.html. 

Another two guidelines have just been published online: Ehlers-Danlos syndrome and macrophage activation system. We'd like to thank our authors and reviewers once again for their effort. 

We are pleased to announce that yet another 3 anesthesia recommendations have just been published online: There is a recommendation for patients suffering from ROHHAD, another guideline for merosin-deficient congenital muscular dystrophy and the third one for Morquio syndrome.

Moreover, we would like to take the chance to thank all participators again.

Right now, there are two more guidelines available. We just published anesthesia recommendations for patients suffering from alpha-mannosidosis and from Marfan syndrome.

The Project OrphanAnesthesia just recently received the "Safe Anaesthesia-Award" granted by the "Stiftung Deutsche Anästhesiologie". The Award was presented at the annual meeting of the German Society of Anaesthesiology and Intensive Care Medicine in Nuremberg end of april. This award is given for outstanding projects or scientific research on the field of patient safety in anaesthesiology.

Furthermore OrphanAnesthesia has made some substantial progress in setting up new structures. So we now welcome Nina Schnabel as a new member of our team. She will support the project coordination starting her work this month. With her help we will hopefully can present another 20 Guidelines by the end of the year.

"OrphanAnesthesia" wants to wish everybody a successful new year.

"OrphanAnesthesia" is now presenting 15 guidelines and spread out its expertise (regarding authors and reviewers) within Europe and the United states. Nevertheless we still grow not fast enough and had hoped for a bigger number of guidelines.

In the next year we will try hard to find some financial support to consolidate our organisational structures and to expand our activities.

Everybody who is willing to support our project "OrphanAnesthesia" will be welcomed and encouraged to participate.

In the coming days OrphanAnesthesia will celebrate its first birthday. This may be the right time to reflect the last year and to name the goals coming up next year.

Actually 13 guidelines (3 have been added within the last month) are published at OrphanAnesthesia homepage. Four of these guidelines are already available in a second language (German) and another 20 are in preparation or under review. The number of registered members increased to more than 100.

Furthermore OrphanAnesthesia is on the way to professionalise and internationalise its structure and processes even more. Therefore we started to set up first cooperation’s, initiated fund raising activities and deliberated on the question of the future management structure of OrphanAnesthesia.

In the coming year our most important goal is still to markedly increase the number of the published guidelines. But nevertheless in second - but not less important - line we hope to acquire some effective financial support and to establish international cooperation’s in order to let OrphanAnesthesia grow and bloom.

While saying thank you again to everybody who participates in OrphanAnesthesia we will motivate and encourage everybody to get involved in the project OrphanAnesthesia as an author, a reviewer or translator.
 

The Project Team "OrphanAnesthesia" wants to wish everybody happy holidays and a successful new year.

Looking back on 2011, we succesfully set up the internet platform for the project "Orphananesthesia". Although there is still a lot work to do, We are proud to present the first 10 guidelines for anesthesia in patients with rare diseases. At this point we would like to mention that we just recently published Guidelines for anesthesia in patients with CHARGE syndrome, Apert syndrome and Russel-Silver syndrome.

We want to say "Thank you" to everyybody who participated in the project OrphanAnesthesia. We hope for your further support in the future. There is still plenty of work to do given the fact that there are several thousand rare diseases...

The importance of rare diseases is becoming evident. In the october issue of the Europen Journal of Anaesthesiology an Editorial adressed the impact of the topic and introduced the project OrphanAnesthesia. 

At the same time the Editorial Board of the European Journal of Anaesthesiology initiated a section: "Anaesthesia for Orphan Diseases". This will be a platform for publishing case reports or case series regarding anaesthesia for patients with rare diseases.

The aim of these project is to improve patients safety. Especially in cases of rare diseases this safety is depending on information, but even more on provision of information. These projects will in future contribute to this ambitious aim.

The publications regarding the topic you will find here:

Editorial OrphanAnesthesia

Anaesthesia for Orphan Diseases

The German version of the anesthesia recommendation for patients suffering from Duchenne muscular dystrophy contained a minor mistake.

This mistake is now revised.