December 7, 2022, online lecture: The Gailinger concept for dealing with swallowing disorders

December 7, 2022, online lecture: The Gailinger concept for dealing with swallowing disorders

I was able to get to know the "Gailinger concept for dealing with swallowing disorders (not only) in children" during my son's rehabilitation stay at the Hegau-Jugendwerk. Our son benefited greatly from it and so I am delighted that we were able to persuade Christina Rauber (MSc and speech therapist) and Dr. med. Paul Diesener (former head of early rehabilitation at Hegau-Jugendwerk Gailingen) to present their concept in an online lecture. Despite many years of application, the concept is not known to everyone in the professional world. The two speakers presented the concept in an online lecture and were available to answer questions. The recording is permanently available here:

Christina Rauber

Dr. med. Paul Diesener

The Gailinger concept for dealing with swallowing disorders (not only) in children

Since 1994, a special concept for dealing with swallowing disorders has been developed at the Hegau-Jugendwerk neurological rehabilitation clinic for children, adolescents and young adults in Gailingen and was presented for the first time in 2007. It includes sometimes unconventional, but above all individually adapted treatment approaches for breathing problems, dealing with saliva, nutritional and swallowing problems, because there is no one-size-fits-all approach, especially for rare diseases. Our motto is therefore: no treatment without prior diagnosis. The focus is on the child! And: every child is unique.

Focal points:

  • Swallowing diagnostics using flexible endoscopic evaluation of the swallowing act (FEES)
  • Saliva management with capsaicin, belladonna and sialanar
  • Nutrition with PEG
  • Storage

An overview of all online lectures can be found here: Online lectures

Christina Rauber
Dr. med. Paul Diesener
Hegau-Jugendwerk Gailingen GmbH

Further information under:
https://www.hegau-jugendwerk.de/de/leistungsspektrum/abteilungen/Spezialsprechstunden/dysphagie/Dysphagie-Startseite.php

Cycling for BPAN - Million Dollar Bike Ride 2022 a complete success again!

Cycling for BPAN - Million Dollar Bike Ride 2022 a complete success again!

Video: NBIA DA

It worked again – in 2022, the Million Dollar Bike Ride (MDBR, https://www.milliondollarbikeride.org/) at the University of Pennsylvania in Philadelphia, the US$ 20,000 mark was exceeded by far: almost US$ 39,000 in donations were collected!

The interesting thing about the MDBR is that the donations collected are doubled by the University of Pennsylvania for a sum between US$ 20,000 and 30,000. As a result, the US$ 38,735 collected became around US$ 68.735, which can now be put out to tender again for a new BPAN research project.

This year, this charity bike race returned to its original mode as a live event in Philadelphia, USA. However, people from all over the world were once again able to participate virtually. This gave us in Germany the chance to be there again to collect donations for the NBIA variant BPAN together with our partner organization in the USA, the NBIA Disorders Association (NBIA DA). Hoffnungsbaum e.V. called for donations in Germany. So also called Noah Rusch He and his family went cycling again for his son Laurin and, like last year, invited friends, relatives and acquaintances to cycle to him, where the guests were treated to pizza from the wood-fired oven. In return, the guests brought plenty of donations for BPAN research. This campaign raised almost €2,980. But other families also collected donations and so another 1680 € were collected. Hoffnungsbaum e.V. was able to transfer the proud sum of 4,660 € (US$ 4,867) to the USA. We are very grateful to all donors, but also to the many helpers who have made this success possible!

Impressions from the MDBR 2022 in the USA and from the "Cycling for Laurin" campaign:

Photos: Noah Rusch

July 6, 2022, online lecture: Myofasciotomy - a minimally invasive treatment for shortened muscles

July 6, 2022, online lecture: Myofasciotomy - a minimally invasive treatment for shortened muscles

NBIA disorders are often accompanied by restricted movement, alternating muscle tension and involuntary cramps (dystonia), causing the muscles to become increasingly shortened. Under certain conditions, myofasciotomy can provide some relief. Dr. Peter Bernius, Chief Physician of the Center for Pediatric and Neuroorthopaedics at the Schön Clinic Munich Harlaching, has graciously agreed to present this treatment option to us in an online lecture. All NBIA families were invited, as well as their doctors and therapists. Dr. Peter Bernius presented his work to us in a very vivid lecture, which we were allowed to record in order to make it accessible to other interested parties. Thank you very much for that!

Myofasciotomy – a minimally invasive treatment for shortened muscles

Very early on in his orthopaedic training at the Oskar-Helene-Heim, University Hospital Berlin, Dr. Bernius specialized in the treatment of children with and without disabilities and further expanded this knowledge as a senior physician at the University Hospital in Freiburg. Since 2001, he has been head of the Center for Pediatric and Neuroorthopaedics at the Schön Clinic in Munich Harlaching. In recent years, he has focused on gentle surgical methods and functional treatment of children with disabilities. Together with his team of doctors, he performs "myofasciotomies" on muscles of the entire body in order to give stiff children the opportunity to move again. Comparable operations are also referred to as "ulzibat surgery" or "SPLM". Knowing that every pause in movement reduces mobility and strength, he tries to avoid long periods of immobilization in plasters with minimally invasive surgical methods. For him, active movement takes precedence over passive stabilization. This also applies to further treatment. His efforts are aimed at detecting the developing problems as early as possible and then having to treat them prophylactically and not later reconstructively or palliatively.
Dr. Bernius covers the entire field of paediatric orthopaedics in the knowledge that form is determined by function, especially during growth. The goal is therefore to achieve the best possible, age-appropriate function.

An overview of all online lectures can be found here: Online lectures

Dr. Peter Bernius
Chief Physician of the Center for Pediatric and Neuroorthopaedics at the Schön Clinic Munich Harlaching

For more information, please visit:
https://www.schoen-klinik.de/peter-bernius

Million Dollar Bike Ride research grant awarded for BPAN

Million Dollar Bike Ride research grant awarded for BPAN

The Center for Rare Diseases at the University of Pennsylvania, supported by the NBIA DA, has awarded a research grant to study the role of iron in the NBIA disease BPAN. Young-Ah Seo of the University of Michigan will receive the $66,366 award:
https://www.orphandiseasecenter.med.upenn.edu/awarded-grants/iem8yjznwv916kubyg5h4vdsqbddem-ac78h

The funding came from the Million Dollar Bike Ride 2021, which was also supported by "Team BPAN Germany" with $5,000, as we reported here:
https://www.hoffnungsbaum.de/mdbr2021erfolg/

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