Town mobilizes to help woman with rare disease
Only 80 people worldwide have rare Brown-Vialetto-Van Laere Syndrome
A Catalan woman diagnosed with the rare disease Brown-Vialetto-Van Laere Syndrome (BVVL) which causes, among other symptoms, loss of hearing and muscle weakness, is planning to hold a charity dinner in order to raise funds for her case.
There are only 80 people worldwide who have the uncommon condition, and one other person in the whole of Spain.
A degenerative neuromotor disease by nature, there is very little medical research on it, which is mostly focussed on childhood cases.
“In cases of young adults such as mine,” Alba Saskia Rivas said, “there is zero research.” She added that “there is no supportive care in the whole State.”
She was diagnosed with the disease 5 years ago, when she was 21 years old. The main reason for the delayed diagnosis is the rarity of the condition.
The main symptoms are loss of hearing, progressive bulbar palsy, which affects speech, muscle weakness, and breathing problems. It is caused by a deficiency in vitamin B2. Making a diagnosis can be problematic. It usually takes between 5 and 10 years to detect the syndrome.
A charity dinner, organised by the Hope association set up by Alba and her mother, will take place in the Catalan coastal town of Blanes in April 2018.
The main goal of Hope is to reduce the BVVL diagnostic time to prevent families from remaining without support, and to ensure that patients are treated adequately. The second goal is to promote the medical research carried out by one of the main authorities of the condition, a doctor from Holland.
In 2016, Alba was shortlisted in the literary Planet Prize. Although she says she does not stop thinking, she will not appear in any other literary competition in the foreseeable future.
The April dinner will serve to give a boost to the Hope association and to help people like her.