Hope for a CURE- You can save lives
AHC is a devastating neurological disorder causing children all over the world to experience extreme pain ona daily basis.
They have horrific episodes causing brain damage and other physical problems that many times leads to death at an early age.
AHC is referred to as MOTHER OF ALL NEUROLOGICAL DISEASES because it has ALL the symptoms of all other neurological diseases.
Our children are dying but now there is HOPE.
We have a targeted plan to use a NEW gene therapy to cure AHC.
In this video Simon Frost, father to a child with AHC, tells us how YOU can help shape the future for
thousands and possibly millions of people by making this research happen.
Fund this AAV gene therapy project and help save thousands and potentially millions of children all over the world!
AAV gene therapy is a new therapy that uses a virus to carry a string of healthy gene to the correct location where is it released and then it starts to function normally and replaces the function of the broken gene.
This method if successful can be used in other diseases where the cause is a mutated or a missing gene.
To learn more about AHC, please watch our documentary for free at www.humantimebombs.com
What is Alternating Hemiplegia of Childhood?
AHC is a neurological disorder caused by an ion imbalance in the brain that prevents the correct functioning of neurons. AHC affects one in a million people, and there are approximately 1,000 diagnosed cases in the world. Due to its rarity and its wide and varied phenotype, AHC is often misdiagnosed, most commonly as epilepsy. It is associated with devastating outcomes like death, brain atrophy, and sudden and permanent degeneration.
AHC is most frequently caused by a genetic mutation in the ATP1A3 gene, a gene that codes for the protein that is responsible for maintaining the critical electrochemical gradient in neurons in the brain. This protein is known as the “sodium-potassium pump”, or the Na+, K+ ATPase. Approximately 70% of AHC patients have a mutation in the ATP1A3 gene. Close to 100 disease-causing mutations of the ATP1A3 gene have been identified. Annabel’s specific mutation has been identified in only two other patients in the world.
What are the Symptoms of AHC?
For patients, AHC is like having seven conditions at one time:
- Paralysis like stroke. Patients experience debilitating periods of paralysis, which can last for over a week.
-Seizures and spells of reduced consciousness like epilepsy. These episodes carry a high risk of rapid, severe, and permanent deterioration. Clinical epilepsy occurs in more than 50% of AHC cases.
Low muscle tone like cerebral palsy. Low tone contributes to other serious complications, including the inability to breathe and swallow properly.
Movement problems like Parkinson’s. Patients often experience painful dystonia or involuntary muscle contractions.
Neurodegeneration like Alzheimer’s. Brain atrophy can cause a decline in motor function, learning capacity, memory, and the ability to breathe, eat and swallow as patients reach adulthood.
Behavioral issues like ADHD. Patients may also have behavioral issues driven in part by pain, frustration, fear and cognitive dysfunction.
Learning challenges like autism. Patients can have cognitive challenges and difficulty with speech, learning, and psychological issues.