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