Skildi það vera Jólahjól?

AHC Samtökin gefa Klettaskóla svokallað Rickshaw hjól þar sem 2-3 krakkar geta farið saman út að hjóla.

Þörfin er mikil því mörg barnanna í Klettaskóla hafa ekki getu til að hjóla og verða því eftir þegar hin börnin fara í hjólatúr.

Hjólið er útbúið rafmagnsmótor og því auðavelt að hjóla á því þrátt fyrir að bera fjóra.

Það er von samtakanna að hjólið muni auka lífgæði barnanna í Klettaskóla um ókomna framtíð.

AHC samtökin vinna að lækningu fyrir taugasjúkdóminn Alternating Hemiplegia of Childhood (AHC). AHC sjúkdómurinn hefur verið nefndur móðir allra taugasjúkdóma því hann inniheldur öll einkenni allra annarra taugasjúkdóma.

Hann er einnig flóknasti taugasjúkdómur sem vitað er um og engin lyf til við honum. Lækning á AHC mun hjálpa öllum öðrum taugasjúkdómum og þess vegna áríðandi að finna lausn áhonum eins fljótt og auðið er.

AHC Samtökin munu halda ráðstefnu á Íslandi um genið ATP1A3 sem veldur sjúkdómnum.


Ráðstefnan verður haldin á Grand Hótel Reykjavik dagana 3-4 október 2019 og mun forseti Íslands opna ráðstefnuna og Kári Stefánsson mun vera með erindi. Tauglæknar og rannsakendur úr öllum heimsálfum munu sækja ráðstefnuna og er búist við um 150 sérfræðingum enda um mjög mikilvægt gen að ræða þar sem ATP1A3 stjórnar orkunni til heilans.

Sue Freckington supports Sunna

 

Sue Frecklington from Skellingthorpe, Lincolnshire, England, supported the AHC Association of Iceland by 500 GBP this week.

Sue has been raising sponsorship for AHC association of Iceland this year through her BIKE TO ICELAND challenge.

Sue Frecklington

 

Sue (born 1948) made it her mission to bicycle from Skellingthorpe to Garðabær and has been collecting pledges along the way.

Of course she did not actually bicycle to Iceland as the Atlantic ocean would make that a bit difficult but she rode the same mileage as a straight line from Skellingthorphe to Gardabær or 1076 miles

This is the second time Sue donates to AHC Association of Iceland and we thank her from the bottom of our hearts 3>

Vefsíður fyrir sjaldgæfa sjúkdóma

Eurordis eru regnhlifasamtök fyrir sjaldgæra sjúkdóma í Evrópu og samtökin voru að útbúa nýja síðu fyrir kannanir sem sjúklingar og foreldrar geta tekið þátt í – https://www.eurordis.org/voices

Einnig var verið að uppfæra samfélagssíðuna www.rareconnect.org en þar er hægt að finna aðra með sama sjúkdóm og læra um nýjar uppgötvanir og fréttir af þínum sjaldgæfa sjúkdómi.

 

The disease that is removed by dreams

A very good article from a Spanish website about AHC, here is a summary from the article:

„The triggers of attacks are diverse and unpredictable, they are often related to good times. Marta no longer wants to go to the carnival because the parade involves ending up paralysed.“

 

Ollie from Spain with her twin sister Charlotte

Ollie is a little girl with golden curls that her twin sister Charlotte calls Lele. When parents show Charlotte a video of Ollie eating a porridge her pupils begin to move, she smiles, shouts her name and goes to look for her in the crib where she sleeps.

Ollie is 21 months old and just diagnosed with AHC.
Ollie and the other 18 cases of Spain are loved.  Now they just need a cure to leave the pain and the paralysis behind.

„when Charlotte sees something happening with Ollie, she takes care of her, it’s a great encouragement because Ollie imitates her, chases her around the house and they both mess up,“ said her mother Bridget Vranckx.

Ollie and the other 18 cases of Spain have love. Now they just need a cure with which to leave the pain and the paralysis behind.

„Rachel’s attacks come with happy moments. Opening the birthday presents, going to the carnival or seeing the boy she likes becomes a torture.“

Human Timebombs, a documentary filmed to spread awareness of the disease that can be seen in the website www.humantimebombs.com

One of the main characters tells us about a particular event where his daughter forgot the word „dad“ after a bad crisis. It erased the word so that she could not say dad again until a year later.

In the film not only are the fears visualised: You can also see that the hope persists when the film ends.

In 2012, researchers, working closely with family associations, were able to discover that the mutation that causes Alternating Hemiplegia is found in the ATP1A3 gene and with sufficient funding, finding an effective treatment seems possible.

„The key is to find out how the function of the gene can be restored or at least to stabilize the pump so that patients can lead a life as normal as possible,“ says Dr. Carme Fons Estupinà, a neurologist who has investigated the syndrome in the Sant Joan de Dèu since 2006.

„In Spain, Ollie’s parents, the recent case diagnosed two months ago, drink from that yearning. Aware that no pharmaceutical company is betting on this syndrome, they joined the Spanish Association of Alternating Hemiplegia Syndrome headed by Rafi Muñoz and Pilar Tejero, the mothers of Raquel and Marta, to raise funds.

 

For the full article click HERE

LIFE ON THE EDGE

The Johannessons consider themselves an ordinary family. They live in an ordinary house on an ordinary street in Reykjavik, Iceland. But inside their home, they are living with what the father, Sigurdur, calls a human time bomb. He’s referring to his 10-year-old daughter, Sunna, who was diagnosed at 14 months with alternating hemiplegia of childhood (AHC), a neurologic disorder that causes episodes of spasms, paralysis, seizures, and excruciating pain.

Sunna ERM

The family’s journey is chronicled in Human Timebombs, a 40-minute film directed by Agusta Fanney and produced by Sigurdur H. Johannesson, Sunna’s father. The documentary was funded by several entities, including Svolurnar, a charity founded by flight attendants in Iceland. A five-minute version of the film won the Grand Prize and the Fan Favorite award at the American Academy of Neurology’s 2016 Neuro Film Festival.As the Johannessons cope with Sunna’s illness, researchers around the world collaborate to unlock the mysteries of AHC.

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The first breakthrough came on January 18, 2012, when scientists at Duke University discovered that a mutation in the gene, ATP1A3, causes the disease. “When we found the gene, we were really excited because that gives a direction for treatment,” says David Goldstein, PhD, a Duke researcher interviewed in the film. Sigurdur hopes the film will raise awareness of AHC and inspire researchers and drug companies to work toward a cure and better treatment. He also hopes the film will find the many children with undiagnosed AHC. “Today, only 850 people are diagnosed, but we know there are thousands of people living with the disease without knowing it is AHC.”

American Academy on Neurology

http://journals.lww.com/neurologynow/Fulltext/2016/12040/Sunna_s_Story__A_powerful_documentary_charts_the.11.aspx

Viðtal við Laufey Ýr Sigurðardóttir taugalækni

Viðtal þetta var tekið árið 2014 í tengslum við gerð heimildarmyndarinnar Human Timebombs.

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Laufey Ýr var taugalæknir Sunnu Valdísar og þar til hún fluttist til Florida og greindi hana árið 2007 þegar Sunna var 14 mánaða.
Sum börn greinast ekki fyrr en eftir mörg ár og eru tilfelli þar sem einstaklingar eru að greinast með AHC á fullorðinsárum.

 

Sunna with friend and actor Ólafur Darri Ólafsson in Independent people

Sunna and Darri

Ólafur Darri was a guest on the Icelandic television show Independent people, a show where Icelandic persons that excel in their profession are interviewed. Ólafur Darri just won best actor awards at Eddan (Icelandic Oscars) and is presently working with Hollywood stars like Liam Neeson in the movie A Walk Among the Tombstones and also with Matthew McConaughey  and  Woody Harrelson in the TV series True Detectives. Darri tells Jón Ársæll how he and Sunna became friends, Sunna started to collect pictures of Darri from the newspapers and clued them on a pink cardboard that she wanted to take with her where ever she went. It escalated so that she wanted to have him over for coffee.  Sunna´s father then called Darri and told him that his daughter was a kind of a „stalker“ and that she wanted to invite him over for coffee and pastries. Darri accepted the offer and from that moment they have been friends.
Darri tells about his need to help Sunna this year by dedicating his 40th birthday to her, he is thinking about charging family and friends admission to come to his party;)
He also is determined to run in the Reykjavik Marathon this August for Sunna. Sunna is not confident that Darri will run the marathon but we will see how that goes;)

Here is a clip from the TV show Independent people that shows the wonderful chemistry between them.

Matthew McConaughey