The fight for Chloe's life began eight years ago. Over this time, Jorgelina Borda has visited countless hospitals, laboratories, institutions and scientific foundations in search of a diagnosis for the vicious combination of symptoms that affect her daughter, who is almost 10. The journey has been long, desperate and fruitless, until now. Researchers from the Carlos III Institutes in Madrid and German Trias and Pujol in Barcelona have identified the faulty gene that torments this Marbella child and just 10 other people across the world. Its name is VPS13D.
Scientific report in hand, Jorgelina's emotions are mixed. On one hand, she's exhilarated at having finally found some answers. On the other, she approaches this new search for treatment with trepidation and denounces the public health system for their scarce support. This discovery has given way to a new battle, explains Jorgelina, “to find someone who wants to study this gene, or to spark interest in someone who possesses the knowledge and the facilities to do so”. She continues, “unless more cases like Chloe's appear, the funds for research will be lacking.” Jorgelina Borda is the founder of Bubbles and Dreams, a not-for-profit organisation that supports children suffering from rare and undiagnosed illnesses.
When the researchers initially identified the gene alteration, which affects mitochondrial function, their work solely focused upon five people. Over the past week, five more cases of the illness have been registered (two in the US, one in Holland and one in Germany).
The road to diagnosis
Chloe was born a healthy child in Marbella on 3rd August 2008. She was precocious and quickly learnt how to walk and talk (both of which she now struggles with).
The first problems began in May 2011. She started to drool more regularly and as the days went on she became difficult to understand. There commenced a string of medical appointments. The dentist attributed it to a problem with her teeth. The speech therapist suggested that her pronunciation issues were down to the fact that she grew up speaking both Spanish and English.
One month later, Chloe's left foot began to turn inwards, giving her trouble walking. Soon after, she started to experience extreme tiredness. Chloe was referred to a neurologist at the Costa del Sol hospital which resulted in her urgent admission to the Malaga children's hospital. She remained there for three weeks. “It happened very quickly. I honestly did not think that these separate symptoms were linked to the same illness,” explains Jorgelina.
The doctors searched for a brain tumour. When it could not be found, they suggested physiotherapy. This was not sufficient and Chloe began to deteriorate further, collapsing when she tried to walk and choking on food.
Jorgelina and Chloe then set foot on a journey around Spain, Italy, Argentina and Israel in search of a diagnosis derived from endless tests at various medical institutions. This proved a highly traumatic experience, both personally and economically.
This surely highlights the significance of this latest discovery. Already, both of Chloe's legs have turned inwards and she has began to exhibit some minor memory issues.
Jorgelina is still in shock. “I've spent over seven years fighting against everyone, writing to doctors and scientists night after night, with almost no response. I cried with exhaustion and anger at every closed door.” Among all this, the desperate mother found doctors Matilla and Posadas from the German Trias and Pujol and the Carlos III Institutes, who were sensitive to Chloe's cause. Jorgelina is forever grateful.
“There's nothing good in knowing that my daughter has a mitochondrial problem which will become progressively worse. However, it is amazing to know that there now exists the possibility of finding a treatment for it,” Jorgelina explains. “I might spend the next 20 years looking for something that I never find, but at least now I know where I am”.