RESEARCH GIVES HOPE
Today we celebrate the International AHC day, today we raise awareness on Alternating Hemiplegia of Childhood in order to speed up research process and ultimately to find a treatment for AHC.
3 years ago scientists discovered the mutated gene ATP1A3 that is the cause AHC for the majority of AHC champions.
AHC has been called by neurologist “The most complex disorder known to man”
If scientists discover what triggers the AHC episodes then we are also discovering basic functions of other much more common disorders that will eventually help millions of people all over the world.
To help us find a treatment for AHC will help not just help our AHC champions but also millions of people with other disorders, perhaps someone in YOUR family……
WHAT IS AHC?
AHC is short for Alternating Hemiplegia of Childhood. Plegia refers to forms of paralysis of the body and or limbs, Hemi adds the scale of half the entire body to it and Alternating indicates that the forms of paralysis may change from one side of the body to the other. Childhood means that the disease is most often diagnosed during childhood.
AHC is a very rare neurological disorder with only about 800 diagnosed patients worldwide.
Alternating hemiplegia of Childhood is a condition that causes transient weakness of either, or both, sides of the body. The attacks may alternate or sometimes overlap, that is the second side is affected before the first recovers. Attacks start in the first eighteen months of life but the earliest episodes are often unusual irregular eye movements. The attacks last from less than an hour, which is unusual, to several days. When the attacks are prolonged the manifestations are not apparent during sleep or for the first fifteen to twenty minutes on waking when they then return. This is a very characteristic finding and when there are bilateral attacks, this may allow feeding and drinking to occur in that short clear period after waking. The episodes of hemiplegia are not epileptic in nature but epileptic seizures also occur in about half of those affected and require separate anti-epileptic drug treatment.
WHAT TRIGGERS AHC EPISODES?
All children and young adults are different and have different triggers. Some common ones are as follows:-
Water – bathing and swimming.
Changes in temperature.
Bright lights and loud noises.
Childhood illnesses and infections.
Tiredness and lack of sleep.
What causes AHC?
A de novo mutation in ATP1A3 causes the episodes for 80% of the AHC individuals but other mutated genes cause the episodes for the remaining 20%.
Diagnoses can be confirmed by exome sequencing in majority of cases.
What’s the treatment?
The treatment most commonly used is Flunarizine (a calcium channel blocker). Other drugs have not been found to be consistently helpful. Management is complex because of the multiple impairments and episodic deterioration. Bilateral attacks (those that occur on both sides of the body) may pose hazards for nutrition, hydration and breathing.
As each child is so different with this condition a treatment or medication that works for one will not necessarily work for another.