"C" for CHLOE
The Challenge Is On For This Extraordinary 10 year old with A Super Rare Condition
Up until age three, Chloe was a normal, happy and healthy little girl but almost overnight, she suddenly became unable to do things she could do easily before like keeping balance, walking, drinking, and understanding when her parents spoke to her. The family sought medical help straight away, but as one of the rarest diseases in the world, doctors had no answers and week by week Chloe’s condition progressed rapidly.
There are only 12 cases known in the world of the disease Chloe suffers from and she is the only case in the whole of Spain. At the moment there is little information known about the neurodegenerative disease, its origin was only discovered last year in February 2018 when Dr. Matilla and Dr. Posada Carlos III found that it was the result of a mutation in the gene called VPS13D. What we do know is that it’s an extremely rare, progressive and invalidating disease with fatal consequences if there is no treatment.
Chloe is described by all her friends and family as a lovely sweet girl that’s full of hope and with a HUGE heart. Unfortunately, the damages from Chloe’s condition are irreversible and affect her muscular and nervous system. She currently has a recognized degree of disability of 75% with her hips and legs are already very affected, her speech and swallowing too is becoming increasingly affected.
However, thanks to a joint program of physiotherapists, speech therapists and enzymatic treatments Chloe has managed to recover some of her speech, walk and eat a little. With her entire body aching most of the time, Chloe’s day to day life is now very difficult and her future outlook seems slow and painful without treatment.
Chloe’s mother Jorgelina explains “Children laugh at her because she walks badly, talks badly and eats badly; she just wonders why they make fun of her, but she doesn't hold a grudge on her… Chloe is good, different, sweet, beautiful… She grows a small flower garden at home and cries if a leaf breaks on her plants.”
After 7 years constantly looking for help and answers throughout the world and seeing so many doors closed in front of them, there is a glimmer of hope... Together with Dr. Posadas Carlos III of Madrid at The Germans Trias and Pujol Institute, Dr. Matilla, is finally creating a research project to stop the neurodegenerative process of the disease that affects Chloe. What they discover through this research project will also serve other people who suffer from this rare disease.
The problem is that the cost of the project is estimated in approximate €200,000, so the challenge is now on to get those funds and begin the research. Biomarkers show that there is much hope for the research project, and the team would also use a new, faster, more efficient and cheaper technique to find suitable treatment. The study would take place over the next two years and would be a breakthrough in the cure of this super rare disease.
The family are doing everything they can to raise the funds required for the research to commence and be completed, and they appreciate all the help they have received so far. Currently they have raised around the €14k mark, so they still have a long way to go with fundraising with time running out for dear Chloe. If you would like to support Chloe and the research project, you can make your donation on the GoFundMe page, just click the button below.
All the funds go directly to the research center Fundación Instituto de Investigación - Ciencias de la Salud
German Trias i Pujol.
PLEASE HELP! EVERY LITTLE COUNTS!