Plight of adorable girl, 5, who becomes paralyzed at random due to rare genetic disorder

athryn Marszalek could be outside playing with friends, and suddenly she will freeze up.
The five-year-old, from Indianapolis, Indiana, becomes paralyzed at random – unable to move for several minutes. But within moments she will be playing again as if nothing had happened.
This is because Kathryn suffers from a rare genetic disorder called Alternating Hemiplegia of Childhood (AHC), a neurological condition characterized by recurrent episodes of temporary paralysis.

She is one of just 200 in the United States to have been diagnosed.
Now her parents, Josh and Laura, are working to identify more families with the condition and to raise money for a drug that could restore Kathryn’s gene function.

The Marszaleks first realized something was wrong with Kathryn when she was just six weeks old. She had a small episode with the stiffening of her arm, repeated by even stronger episodes at five and seven months old.
Her parents took her to the hospital where underwent a 24-hour EEG, during which she had an episode where she became paralyzed.
Kathryn was then transferred to Riley Hospital for Children in Indianapolis and, according to her father Josh, sat up in bed three days later like nothing had happened.

Read more: http://www.dailymail.co.uk/health/article-4184760/Adorable-girl-5-paralyzed-randomly.html#ixzz4iYSQyZgx
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AHC Patients are Human Timebombs

My name is Sigurdur Holmar Johannesson, I am father to a 10-year-old girl, Sunna Valdis, who is diagnosed with Alternating Hemiplegia of Childhood (AHC).

I work as an air traffic controller and my wife works as a flight attendant. We live in Reykjavik, Iceland, and are blessed with two children, Viktor is 17 and Sunna is 10.

Viktor is a perfectly healthy young man, athletic, gets good grades and has a bright future ahead of him.

Sunna is amazingly happy but her condition is extremely debilitating. She has terrible episodes almost every day, sometimes life threatening episodes.

Our family formed the AHC Association of Iceland in 2009 and my wife and I have been raising awareness for AHC and rare disorders both domestic and internationally ever since.

Alternating Hemiplegia of Childhood, which is one of the most complex neurological disorders known to man, has the prevalence of 1/1.000.000.

AHC incorporates many of the symptoms of other neurological diseases and more.

AHC causes episodes of spasms, paralysis, seizures, and excruciating pain. AHC patients are also cognitively late developed and many are touched with other physical and psychological problems.

AHC has so many different elements and the symptoms are always changing so it is very difficult to explain to another person what goes on in our home every day.

In 2012 when Sunna was 6 years old we decided that in order to explain our situation we had to make a short film about Sunna and her condition in Icelandic and English so family, friends and doctors understood her condition and the complexity of it.

We were lucky enough to meet Agusta Fanney who was at that time studying filmmaking in California and she made the video for us

We uploaded the videos to Youtube but expected nothing. What happened was nothing short of fantastic because we started to get messages saying that children were getting diagnosed because of the video and that other families were getting more understanding from their family and friends, all because if this video.

This positive response made us want to help more. Agusta Fanney had at this time gotten to know Sunna so now it was personal for her, she was now passionate about helping the cause and to expedite research for AHC.

I also got very interested in making films because I saw the effect it was having and realized that the phrase “a picture says more than a thousand words” was indeed very true. Finding funds to raise awareness and support research was also easier when people understood the disease.

We then made an international short video with the help of AHC families from both sides of the Atlantic. That video also got great response and helped many families all over the world.

At that time we decided to make a longer video, 10-15 minutes, that would explain the disease in more detail and started to work on it and to get funding for the film. The funding proved to be quite difficult but in the end it somehow came together but a lot of people either volunteered their work or gave a huge discount. When the project was rolling and we saw that the information we had would possibly be life changing to hundred or even thousands of families and we decided that we would not settle for anything less than a professional grade documentary that would be at least 35 minutes.

The film´s potential also rose when internationally renowned artists like Ólafur Arnalds and Of Monsters and Men offered their music to the film. Our multitalented graphic designer Sigurgeir Arinbjarnarson also surprised us by composing two songs that were needed to escalate the feelings of emotional scenes. Iceland´s best-known actor Ólafur Darri Ólafsson volunteered to narrate a part of the film. Ólafur Darri is a personal friend of the family and has helped us immensely throughout the years.

The making of Human Timebombs was a true roller-coaster ride, a lot of sleepless nights and 2.5 years of work. By the end of filming in the US and Europe and collecting video´s from families all over the globe we had about 70 interviews and 50 hours of material to work with.

To cut the film down to a 35-minute documentary that captured everything we needed to convey was many months of work and a lot of very good film ended up on the director’s floor. We realized this was a waste of precious information so we founded the AHC International Media and opened the website www.ahcim.com where everything we filmed will be open to the public and also we will continue to produce interviews that are of interest to AHC and related diseases.

Human Timebombs was finished in August 2015. The name of the documentary arrives from the fact that AHC kids can have an episode or a seizure at any given moment without warning and are therefore sometimes referred to by some parents as ticking timebombs.

We made a 5 minute version of Human Timebombs that was sent to a short film festival hosted by the Annual Academy of Neurologist in Vancouver this year and it won the First prize and also the Fan Favorite prize. That version is shown at the top of this article.

Agusta Fanney also received an award for Human Timebombs at the Accolade Global Film Competition last year in the category of woman filmmakers.

The film was first aired in public television in June this year by the Icelandic National Broadcasting Service and will be available in Icelandair´s onboard entertainment system from November 1st. Human Timebombs has been translated to10 languages so far.

Human Timebombs has been distributed as a teaching tool to many hospitals in Europe and the US. Hospitals such as Duke University hospital, Vanderbilt, University hospital of Utah, Northwestern, Nemours Children hospital in Orlando, Massachusetts General Hospital and more. We intend to continue to distribute the film to teaching hospitals, if you are interested in receiving a copy for your hospital please contact ahc@ahc.is

AHC is still not known by a majority of neurologists in the world and only a very small percentage of the general public is familiar with rare diseases in general and only a fraction of them know AHC, so it´s fair to say that the disease needs a voice and we hope that Human Timebombs will be that voice. We would also like to help researchers and the public to realize that by finding a treatment for AHC we could very possibly find a treatment for other much more common diseases and help millions of people all over the world improve their quality of life.

If you would like to donate or to help the cause please contact your nearest AHC association www.ahcia.org

For the full article click HERE

Dr Kenneth Silver Explains Alternating Hemiplegia of Childhood

Alternating hemiplegia of childhood (AHC) is a rare neurological disorder in which repeated, transient attacks of hemiplegia occur, usually affecting one side of the body or the other, or both sides of the body at once. It ranges from simple numbness in an extremity to full loss of feeling and movement.

People with AHC exhibit a wide range of symptoms. These include tonic attacks (lack of muscle tone), dystonic posturing (stiffening of extremities), ataxia (lack of coordination when performing voluntary movements), nystagmus (fast uncontrollable movements of the eyes that may be side to side, up and down, or rotary) and other ocular motor abnormalities (eye disorders), developmental delays, and seizures.

In the video below, Kenneth Silver, MD, of the University of Chicago Comer Children’s Hospital discusses the condition and the need for more research to find a treatment for this rare disease.

The Time-Sucking House Guest

For the last 14 years, my family has lived with a rare disease known as Alternating Hemiplegia of Childhood, or AHC. It took up residence in our home without invitation and will never leave.

Our home has been rearranged, modified, and expanded to accommodate the needs of AHC. We wake up and go to sleep based on AHC’s schedule and our lives have forever been changed. Even though AHC will never be welcome in our home, there are a number of attributes we have grown to appreciate.

AHC is one of 7,000 rare diseases that affect over 30 million Americans. This means that there are a lot of families living with some of the same challenges as me. Some of the hurdles that face the entire community of rare diseases include delay in diagnosis, lack of public awareness and understanding, the need for more research, financial hardship, insurance headaches, educational roadblocks, lack of resources, and a sense of being marginalized. By joining forces with groups like the National Organization for Rare Disorders (NORD), I can learn from their experience and not feel so alone.

On the days when it feels like AHC is taking over our house, I am fortunate to have an amazing group of fellow AHC parents with whom I can connect. My fellow parents have provided me with insight on how to manage new symptoms, seek resources, ask for help, and find strength when I think it no longer exists. These parents have shared stories of their own challenges with such frankness that their kindness is overwhelming. They often share stories that aren’t meant to be funny, but they are. They sometimes come at such unexpected times that they truly make my day.

The time-sucking house guest that is AHC has taught me to spend quality time with those in my house that are not affected with AHC. That would be AHC’s siblings. Siblings can really struggle with how to fit in a family that is being consumed by AHC. To make sure AHC does no more harm, I have learned to keep my true priorities in focus and put spending one-on-one time with my daughter at the top of the list.

And finally, AHC has taught me to learn as much as possible about AHC in order to live with it. When I stopped fighting it and learned to understand it, I gained a much stronger sense of what AHC is really about. By educating myself about AHC, I became a better advocate for my entire family. By joining forces with other AHC families, I became part of a supportive and amazing group. While I will never wish AHC to visit anyone else, I certainly can appreciate where AHC comes from and I can make its stay in my house as calm, loving, and acceptable as possible.

For more information about ANC, visit www.ahckids.org

Written by Vicky Platt, mom to AHC daughter Emma who is adorable, loveable and a true fighter!

For the full article click HERE

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