Press release

The British rock band The Vaccines made a generous donation to the AHC association of Iceland recently. The Vaccines which has the Icelandic bass guitar player Árni Hjörvar was recently nominated to the Brit awards in thYe category of “Best breakthrough act”

Why donate to AHCF?

We are on the verge of getting at the root cause of AHC
Many symptoms of AHC are found in other more prevalent diseases such as epilepsy & autism. Our research may help further discoveries for many other children and adults
Our kids and adults need a champion
It is so easy to make a difference
DONATE NOW and support the researchers in their work including:

Confirm the genetic findings from the full genome sequencing project including initial development of potential treatments & cure
Build a natural history database serving as "control group" towards clinical trials of treatments/cure
Investigate Developmental/Behavioral Treatments for AHC. See if learning & behavior advances in autism & other disorders can benefit AHC Sufferers
Reach the likely THOUSANDS of undiagnosed cases. The ratio is 1 in a million in the US & Europe. We should know 7,000 cases worldwide, but only know 700

Hello again, readers.  Over the past few months, I have been speaking to you about the truly incredible organization - AHCF - that is working night and day to help families and children whose lives have been dramatically affected by AHC - Alternating Hemiplegia of Childhood.

I.B.AHC is composed of two main repositories, the Clinical Registry and the Biological Bank (Biobank), designed to collect, organize, keep and share both the clinical data and the biological samples (DNA, RNA and Cellular Lines) of the patients affected by AHC.

Thanks to I.B.AHC, the collected clinical data and biological material are available for any scientifically valuable and non duplicated study and research on AHC.

For further information, please contact info@ibahc.org

From the book created by Eurordis, the Voice of 12,000 Patients
Sections of this chapter were written with the collaboration of the European Association for Research
on Alternating Hemiplegia (ENRAH), Alternating Hemiplegia of Childhood Deutschland E.V
and Associazione Italiana per la Sindrome di Emiplegia Alternate

Chapter Contents:

Living with AH

Access to Medical and Social Services

Expectations Regarding Centres of Expertise for Rare Disease

Reactions to Results

Je m'appel Kaya Dion-Hawkins. Je suis née à Montréal le 19 juillet 2005 en pleine santé. Dès mon premier souffle, je suis entourée d'une famille aimante et attentionnée. Je rencontre finalement mon Daddy Peter, ma maman Caroline et mon grand frère adoré Loïc.

Alternating hemiplegia of childhood (AHC) is a rare disorder characterized by repeated plegic attacks, movement disorders, autonomic phenomena, and developmental delay. To obtain insights into the pathophysiology of AHC, we..

Abstract

Aim: To define clinical features of patients with alternating hemiplegia of childhood.

Methods: We retrospectively reviewed the clinical presentation and course of the disease in patients diagnosed between January 2003 and December 2008 at the Pediatric Neurology Department of the Istanbul Medical Faculty. Results: The nine patients had a mean age of 6.6 months (2-15 months) at the onset of symptoms. Paroxysmal eye movements were the early symptom of five patients. All patients had recurrent alternating hemiplegic episodes and relief of symptoms while sleeping. Duration of events varied widely from few minutes to several days and was associated with slowly progressive neurological deterioration. Flunarizine might decrease frequency of events but is not effective to neurological deterioration. Amantadine as an alternative agent is used in add-on therapy, but epileptogenic side effect prevented the evaluation of long-term efficacy. Conclusion: Trials on new agents like amantadine are necessary for more effective control of the disease.

Abstract

Alternating hemiplegia of childhood (AHC) is a rare neuropediatric disorder classically characterized by episodes of hemiplegia developing in the first months of life, various non-epileptic paroxysmal events and global neurological impairment. If the etiology is unresolved, the disorder is highly suspected to be monogenic with DE NOVO autosomal dominant mutations. A missense mutation in the SLC2A1 gene encoding the facilitative glucose transporter-1 (GLUT1) was recently described in a child fulfilling the existing criteria for the diagnosis of AHC, with the exception of age at onset, thus suggesting a clinical overlap between AHC and GLUT1 deficiency syndrome due to SLC2A1 mutations. We have studied a cohort of 23 patients to investigate whether patients with classical AHC harbor SLC2A1 mutations. Automated Sanger sequencing and MLPA analyses failed to detect any SLC2A1 mutations in the 23 patients analyzed, thus excluding mutations of this gene as a frequent cause of classical AHC.

Abstract only.

We report here the efficacy of amantadine hydrochloride for two patients with alternating hemiplegia of childhood (AHC) that did not respond to flunarizine.

The goal of this study is to evaluate whether the study drug can safely and effectively decrease AHC episodes and improve the quality of life of individuals with AHC.

You are asked to enroll in the AHC Registry so that we may quickly and efficiently contact you in the future with information about new treatments for AHC, or about studies for which you may be eligible.

The primary benefit is to gain knowledge regarding the characteristics of AHC in children and adults.  There is no immediate personal benefit to you for participating in completing the AHC Questionnaire. However, we hope that information gained will help us in our search for effective therapies in AHC.  Risks include the very small risk of loss of confidentiality that results from any activity involved in disclosing personal information.  You will be asked to submit the AHC Questionnaire once, but we may need to update it in the future. This will involve a minimal time commitment on your part.

Tim hat alternierende Hemiplegie im Kindesalter (AHC), eine Krankheit, die bisher nur bei 30 Menschen in Deutschland diagnostiziert wurde.

L'emiplegia alternante (AHC o sindrome di emiplegia alternante) è una rara malattia neurologica, con manifestazioni parossistiche molto invalidanti, le cui cause sono ancora sconosciute e per la quale non esiste una cura. Attualmente i casi conosciuti in tutto il mondo sono circa 500, 45 dei quali italiani.

In other ways, Kiley is practically unique;  she suffers from Alternating Hemiplegia of Childhood (AHC), a neurological disorder that’s so rare there are just three or four other children in the surrounding area who are afflicted with it.