Francesca Sofia interviews Rosaria Vavassori – Final

Last episode of the interview on the creation of a Rare Disease Registry and on the proactive role that patients can have in this process.
Many thanks again to Francesca Sofia for this fantastic experience!
You can watch the full interview on Youtube
https://www.youtube.com/watch?v=i5Io_k3uKA0&feature=youtu.be

Piattaforme di registri (sesta parte intervista Rosaria Vavass…

Con oggi si conclude la serie dedicata ai registri di malattia con un'ospite eccezionale, Rosaria Vavassori! In questo estratto affrontiamo il tema delle piattaforme informatiche che offrono l'infrastruttura già pronta ai registri nascenti.L'intervista completa è disponibile qui: https://youtu.be/i5Io_k3uKA0

Posted by Science Compass on 9. maí 2017

Francesca Sofia interviews Rosaria Vavassori – part 5

The fifth episode of the interview with Francesca Sofia about Rosaria´s experience with the creation of the Italian Registry and the European Registry for Alternating Hemiplegia.
The Register for a Rare Disease, as a valuable tool to support the research until the final development of an effective treatment, is by its very nature a long-term investment and requires considerable planning and management skills for the patients associations that want to have an active role in this process.

Motivazione e competenze (quinta parte intervista Rosaria Vava…

"Acquisire uno spirito più "imprenditoriale" è un passaggio difficile ma cruciale per le associazioni che vogliono fare la differenza nello sviluppo della ricerca sulla propria malattia". Rosaria Vavassori

Posted by Science Compass on 8. maí 2017

Francesca Sofia interviews Rosaria Vavassori – part 4

Fourth part of the inteview with Francesca Sofia.
The patient associations play a strategic role not only in the creation and governance of a Rare Disease Registry, but also in its sustainability

Registro Internazionale (quarta parte intervista Rosaria Vavas…

7 minuti per capire come può crescere un registro di malattia rara su scala internazionale, quali sono i rischi che si corrono e chi sono gli attori fondamentali per la sopravvivenza e lo sviluppo dello strumento a lungo termine. In questo quarto estratto della conversazione con Rosaria Vavassori tantissime riflessioni e spunti che possono cambiare già da oggi il nostro modo di pianificare un registro!

Posted by Science Compass on 7. maí 2017

Francesca Sofia interviews Rosaria Vavassori – part 3

Motivation, competence and mutual respect and trust: these are the key ingredients of a multidisciplinary workgroup responsible of the creation and management of an effective Registry for a Rare Disease.

Il gruppo di lavoro (terza parte intervista Rosaria Vavassori)

Quanto è importante il gruppo di lavoro che realizzerà il registro? E come raggiungere il livello di collaborazione necessario per farlo funzionare al meglio? Terza puntata della nostra coversazione sui registri con Rosaria Vavassori, una delle persone più esperte e con maggiore esperienza in questo campo!

Posted by Science Compass on 6. maí 2017

Francesca Sofia interviews Rosaria Vavassori – part 2

Here is the second episode of Rosaria´s interview with Francesca Sofia about the creation of the Italian Registry for AHC.

Il Registro Italiano (seconda parte intervista Rosaria Vavassori)

In questo secondo estratto dell'intervista a Rosaria Vavassori, past president dell'associazione Emiplegia Alternante, il racconto di come è nato il registro italiano e i segreti del suo successo.

Posted by Science Compass on 5. maí 2017

Francesca Sofia interviews Rosaria Vavassori – part 1

The first episode of Rosaria´s interview with Francesca Sofia about the creation of the Italian Registry for AHC, published by Science Compass
“Are you planning to create a Registry for a Rare Disease?
Do you want to understand what steps to take and what actions can guarantee the best result?
In this video the first part of the interview with Rosaria Vavassori. Past President of the Italian Association for AHC (A.I.S.EA); about 15 years ago she created a Registry that contributed to the identification of the gene responsible for her son’s disease. In this first video she tells us about her motivations and the push after the diagnosis.
PS
The interview is divided into 6 episodes

La diagnosi (prima parte intervista Rosaria Vavassori)

State pensando di costruire un registro di malattia? Volete capire quali passi compiere e quali azioni garantiscono il massimo risultato? In questo video la prima parte della nostra conversazione con Rosaria Vavassori. Past president dell'associazione Emiplegia Alternante, circa 15 anni fa ha realizzato un registro che ha portato all'identificazione del gene responsabile della malattia di suo figlio. In questa prima clip, ci racconta le sue motivazioni e la spinta dopo la diagnosi.p.s.L'intervista è suddivisa in 6 puntate (una al giorno a partire da oggi). Stay tuned 😉

Posted by Science Compass on 4. maí 2017

Local girl battles rare, debilitating disease

NEW JERSEY (WTXF) – A local girl is battling a rare, debilitating disease. Her mom is fighting to find a cure.

Emilia Schalick is a bubbly, fun loving, affectionate 5-year-old girl with so much personality she lights up any room. Spend a few minutes with her and she’ll melt your heart and you’re a fan forever.

Soon after she was born her mother, Meredith Schalick, noticed something wasn’t quite right. In the recovery room right her eyes were sort of wandering a bit and she was having trouble breathing.

“They brought her to my room about a half hour later she had a blue spell. She stopped breathing altogether,” she told FOX 29.

As Emilia got older she missed some of her developmental milestones.

“We had 7 specialists working with us and we couldn’t figure out what it was,” Meredith explained.

They did brain scans, tests and MRIs but everything came back normal. That’s when Kristy researched online and found an article that sort of matched her symptoms 2 and a half years later, Emilia was diagnosed with alternating hemiplegia of childhood or AHC.

“A rare neurological development disorder that’s characterized by recurrent episodes,” CHOP neurologist Dr. Katherine Taub said.

Dr. Katherine Taub is a neurologist at Children’s Hospital of Philadelphia and she’s been helping Emilia since the beginning.

“It wasn’t until she was working with her occupational therapist at the Children’s Hospital of Philadelphia who witnessed a few episodes of weakness,” her mother said.

Emilia goes to CHOP at Virtua in Voorhees for therapy once a week with longtime therapist Kristy Pucci. Like others with AHC, Emilia has episodes of paralysis once or twice a week.

“When we started working together especially in the pool she would have these periods of just becoming completely almost paralyzed. A limp doll.”

Living with AHC is a challenge. It’s a debilitating disease while the disease is diagnosed before a child is 2, kids don’t grow out of it. Emilia’s mom worries about Emilia’s future while she is used to the episodes they are still scary.

These episodes happen once or twice a day for Emilia but when there are changes in weather or she gets over-stimulated they can increase. The episodes can last for a few minutes or hours but if Emilia can sleep she’s back to normal.

Emilia’s mom, a law professor at Rutgers law school in Camden, is patient, compassionate and determined to raise awareness and find a cure for this debilitating disease.

Despite the fact that Emilia has a potentially devastating and rare disease she triumphs over the limitations of her condition in amazing ways.

If you want to learn more about AHC or support medical research for a cure, please visit http://ahckids.org/.

Matthew Sweney – Minneapolis 2014

Dr. Matthew Sweney was interviewed by AHCIM in July 2014

“AHC robs the child of functions that everyone of us take for granted”

The purpose of AHC International Library is to collect information about AHC and related disorders and make them visible for everyone.

Doctors, researchers and family can share information on this media and together we can help each other get closer to the goal of having an effective treatment for AHC.

AHCIM will continue to interview interested parties that have information on AHC or related disorders to share .

For more information: www.ahcim.com

Contact us at ahc@ahc.is

David Goldstein – Duke University 2014

Dr. David Goldstein was interviewed by AHCIM in October 2014

 

David Goldstein is an American human geneticist. He trained in theoretical population genetics at Stanford University (PhD 1994), where he worked with Marcus Feldman and Luca Cavalli Sforza. Goldstein is founding Director of the Institute for Genomic Medicine at the Columbia University Medical Center, Professor of Genetics and Development and directs the genomics core of Epi4K and administrative cores of Epi4K with Dan Lowenstein and Sam Berkovic.

The purpose of AHC International Library is to collect information about AHC and related disorders and make them visible for everyone.

Doctors, researchers and family can share information on this media and together we can help each other get closer to the goal of having an effective treatment for AHC.

AHCIM will continue to interview interested parties that have information on AHC or related disorders to share .

For more information: www.ahcim.com

Contact us at ahc@ahc.is