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901 5101 (1000kr)
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901 5102 (2000kr)
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Neuroscience is absolutely critical

Skilaboð til hlaupara í Reykjavíkurmaraþoninu

 

Allir sem hlaupa fyrir AHC samtökin geta fengið bol og buff merkt AHC samtökunum og Sunnu Valdísi.

Nú þegar eru skráðir 23 hlauparar en gaman væri ef fleiri bættust í hópinn.

Til þess að nálgast bolina og buffin er best að hafa samband við foreldra Sunnu Valdísar:

Sigga 8989097 eða Röggu 6974550 eða senda póst á ahc@ahc.is

 

Við þökkum ykkur kærlega fyrir að hlaupa fyrir samtökin og Sunnu sætu 🙂

Dr. Kathryn J Swoboda hleypur í Reykjavíkurmaraþoninu

Þekktur taugalæknir og genafræðingur Kathryn J Swoboda hleypur fyrir Sunnu Valdísi og AHC samtökin í Reykjavíkurmaraþoninu þetta árið.


Kathryn hefur síðustu 20 ár verið einn helsti sérfræðingur um AHC og SMA og er einnig með rannsóknarstofu í Cambridge, MA þar sem hún vinnur að því að finna meðferðir við SMA og AHC.
Kathryn verður hér á landi í nokkra daga en gefur sér tíma til þess að skoða eina AHC sjúklinginn á Íslandi, Sunnu Valdísi Sigurðardóttir og einnig ætlar hún sér að hlaupa í Reykjavíkurmaraþoninu ásamt syni sínum og frænda.

Þegar Sunna Valdís lenti inn á spítala árið 2008 með óstöðvandi AHC köst þá var það ráðleggingar frá Dr. Swoboda sem björguðu lífi Sunnu Valdísar.

Sunna var búin að vera í hrikalegum köstum í 11 daga og gat ekki lengur borðað, gengið, var með ósjálfráðar hreyfingar og læknarnir á Íslandi höfðu engin ráð. Sunna var að fá yfir 50 köst á dag og hrakaði stöðugt.

Faðir Sunnu, Sigurður Hólmar fékk gsm símanúmer hjá Dr. Swoboda gegnum Bandarísku AHC samtökin.

Dr. Swoboda svaraði símanum þrátt fyrir að vera í sumarfríi og leiðbeindi svo íslensku taugalæknunum hvernig væri best að taka næstu skref. Sunna var svæfð og haldið sofandi í 4 daga. Þegar hún var vakin þá hélt hún áfram að fá köstin en svo fækkaði þeim og að lokum stoppuðu þau eftir nokkra daga. Sunna þurfi að vera í stífri enduhæfingu í 3 mánuði á eftir til þess að læra að, borða, ganga og hreyfa sig eðlilega aftur.

Það er nokkuð ljóst að án ráðlegginga Dr. Swoboda þá hefði Sunna Valdís ekki lifað þetta af….

Allar götur síðan hefur Dr Swoboda ráðlagt með umönnun Sunnu Valdísar.

Hérna er hægt að heita á Dr. Kathryn

http://www.massgeneral.org/children/doctors/doctor.aspx?id=19696#

http://www.scmp.com/news/hong-kong/health-environment/article/2003739/drug-trial-brings-new-hope-sufferers-rare-genetic

https://smanewstoday.com/2015/07/30/cure-smas-2015-researcher-meeting-new-born-screening/

https://www.hlaupastyrkur.is/godgerdafelog/charity/229/ahc-samtokin

Human Timebombs wins another award

„Human Timebombs“ has won the title for Best Global Impact Award for the 7th edition of Move Me Productions’ Festival.“

Congratulations Agusta Fanney, this is the 4th award the film receives. We could not be happier 🙂

www.humantimebombs.com

#humantimebombs #raredisease #rareconnect

6th Symposium on ATP1A3 in Disease

6th Symposium on ATP1A3 in Disease will be held in September 21 and 22, 2017 in Tachikawa, Tokyo, Japan

The 1st Symposium on ATP1A3 in Disease was held in Brussels, Belgium in December 2012, when it was first discovered that alternating hemiplegia of childhood (AHC) was caused by ATP1A3 mutations. Since then the symposiums have been held in Europe and the US. This is the first time that the symposium will be held in Asia. We hope that doctors and researchers who are interested in this field and many family members will attend the symposium.

ATP1A3 encodes the Na+/K+-ATPase α3 subunit which is expressed mainly in the central nervous system. Na+/K+-ATPase is an essential transmembrane protein, which is ubiquitously expressed in all animal cell membranes. The Na+/K+-ATPase transports and exchanges 3Na+ and 2K+ through the plasma membrane using energy from an ATP. This pump function was discovered 60 years ago (1957), and it is said that 30% of cellular ATPs are used by Na+/K+-ATPase in living creatures.

Thirteen years ago (2004), the first human disease caused by ATP1A3 mutations was discovered. It was rapid-onset dystonia–parkinsonism (RDP), which mainly occurs in adulthood. Eight years later (2012), three independent research groups (Heinzen et al, Rosewich et al, and Ishii et al) reported that AHC was caused by ATP1A3 mutations. AHC mainly occurs in early childhood. Since then several rare conditions other than RDP or AHC have been demonstrated to be caused by ATP1A3 mutations. In this symposium, we would like to discuss the physiological functions of the Na+/K+-ATPase, the characteristics of ATP1A3-related diseases, and the possible new treatment methods for ATP1A3-related diseases.

Four AHC associations fund international AHC patient registry

 

AHC Vereniging Nederland, AHC UK support groupCure AHC and the AHC Association of Iceland have joined forces to fund the IAHCRC-CLOUD platform which will be operated by the International AHC Research Consortium in collaboration with patient driven AHC associations.
This project is headed by Rosaria Vavassori who is the IAHCRC Data Manager and will be crucial for new studies, trials and collecting of information for the international AHC community.

The IAHCRC-CLOUD platform will be developed by the IEMEST Institute

The IAHCRC International Consortium for the Research on AHC and other ATP1A3 related diseases was created officially on November 2014


The Consortium involves clinicians, geneticists and researchers working at University centers in Europe, USA and Australia; it works in close collaboration with health professionals and patients


IAHCRC-CLOUD Platform is an on-line platform that collects and hosts data from IAHCRC Centers and from external sources and shares them for the IAHCRC Studies and Projects. The registry is Accessible to Researchers, Clinicians and Patients

AHC samtökin óska eftir styrk

Fyrir sjaldgæfa sjúkdóma er nauðsynlegt að hafa nákvæma sjúklingaskrá sem rannsakendur og læknar geta dregið upplýsingar úr þegar verið er að vinna að rannsóknum.


AHC samtökin á Íslandi vilja styðja við alþjóðlega rannsóknarhópinn IAHCRC sem er búinn að undirbúa gerð sjúklingarskrár en vantar fjármagn til þess að klára verkefnið
Verkefnið þarf 20.000 Evrur eða um 2.3m isk og óskum við hér með eftir stuðningsaðila/aðilum sem væru tilbúnir að hjálpa til við að láta þetta mikilvæga verkefni verða að veruleika.
Þeir sem hafa áhuga hafi samband í síma 8989097 eða sendi email á ahc@ahc.is

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

Diagnosis and Treatment of Alternating Hemiplegia of Childhood

The diagnosis and treatment of patients with Alternating Hemiplegia of Childhood (AHC) and related disorders should be provided by a multidisciplinary team experienced with the spectrum of presentations of this disease, with its related disorders, with its complex and fluctuating manifestations, and with cutting edge advances occurring in the field.

Involvement in research to advance the understanding of this disease and partnership with international collaborators and family organizations are also important. An example of such an approach is that of The Duke AHC and Related Disorders Multi-Disciplinary Clinic and Program, which, in partnership with the Cure AHC Foundation, has developed and applied this approach to patients seen since early 2013. The program provides comprehensive care and education directly to AHC patients and their families and collaborates with referring physicians on the care of patients with AHC whether evaluated at Duke clinics or not.

It also is involved in clinical and basic research and in collaborations with other International AHC Research Consortium (IAHCRC) partners. The clinic is staffed with physicians and experts from Neurology, Cardiology, Child Behavioral Health, Medical Genetics, Neurodevelopment, Neuropsychology, Nursing, Physical and Occupational Therapies, Psychiatry, Sleep Medicine, and Speech/Language Pathology. Patients are seen either for full comprehensive evaluations that last several days or for targeted evaluations with one or few appointments.

Alternating hemiplegia of childhood is a serious disorder that, together with its related disorders, is becoming increasingly recognized. Its diagnosis and management require a multidisciplinary team that addresses all aspects of this very complex disease and the needs of the patient and family. Active clinical and basic science research and collaboration among centers concentrating on this disease are creating opportunities to deepen the understanding of this disorder and to better treat it.

For the full article click HERE

A novel SLC2A1 mutation linking hemiplegic migraine with alternating hemiplegia of childhood.

Abstract
BACKGROUND:
Hemiplegic migraine (HM) and alternating hemiplegia of childhood (AHC) are rare episodic neurological brain disorders with partial clinical and genetic overlap. Recently, ATP1A3 mutations were shown to account for the majority of AHC patients. In addition, a mutation in the SLC2A1 gene was reported in a patient with atypical AHC. We therefore investigated whether mutations in these genes may also be involved in HM. Furthermore, we studied the role of SLC2A1 mutations in a small set of AHC patients without ATP1A3 mutations.
METHODS:
We screened 42 HM patients (21 familial and 21 sporadic patients) for ATP1A3 and SLC2A1 mutations. In addition, four typical AHC patients and one atypical patient with overlapping symptoms of both disorders were screened for SLC2A1 mutations.
RESULTS:
A pathogenic de novo SLC2A1 mutation (p.Gly18Arg) was found in the atypical patient with overlapping symptoms of AHC and hemiplegic migraine. No mutations were found in the HM and the other AHC patients.
CONCLUSION:
Screening for a mutation in the SLC2A1 gene should be considered in patients with a complex phenotype with overlapping symptoms of hemiplegic migraine and AHC.

See the full article HERE

Research conference summary

Research conference summary from the 2014 International Task Force on ATP1A3-Related Disorders
Hendrik Rosewich, MD, Matthew T. Sweney, MD, Suzanne DeBrosse, MD, Kevin Ess, MD, PhD, Laurie Ozelius, PhD, Eva Andermann, MD, PhD, Frederick Andermann, MD, Gene Andrasco, Alice Belgrade, BCBA, Allison Brashear, MD, Sharon Ciccodicola, RN, Lynn Egan, Alfred L. George Jr, MD, Aga Lewelt, MD, Joshua Magelby, PhD, Mario Merida, MD, Tara Newcomb, MS, Vicky Platt, Dominic Poncelin, Sandra Reyna, MD, Masayuki Sasaki, MD, Marcio Sotero de Menezes, MD, Kathleen Sweadner, PhD, Louis Viollet, MD, PhD, Mary Zupanc, MD, Kenneth Silver, MD and Kathryn Swoboda, MD

For the Article click HERE