Month: maí 2017

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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

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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

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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

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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