Parents beg doctors for medication for daughter with Niemann-Pick Type C

MAITE ENRICH and Jose Maria Hernandez are begging Barcelona doctors to try a new drug for their daughter, Anabel. The six-year-old has Niemann-Pick Type C disease, a rare genetic disorder affecting the central nervous system, mobility and speech.
Found to have the disease at eight months, Anabel is unlikely to live beyond 10 years of age, doctors warn.
Since she was first diagnosed Anabel has been treated with Zavesca, the only type of medication for the disorder that is authorised and financed by Spain’s state Health system.
It costs €6,855 for 84 capsules and cannot cure the disorder but helps to counteract slow development, difficulty in swallowing and lack of coordination.  Its severe side effects include diarrhoea, weight loss and abdominal pain.
Anabel took Zavesca for five years until she was admitted to hospital last July to change the gastric tube which feeds her directly via the stomach.  She was in hospital for a month and during that time stopped taking Zavesca.
Her parents noticed an immediate improvement which has continued over the last three months.  “She put on weight straight away and looks much better.  She is happy and peaceful all the time,” said Maite. Given the advanced stage of the disease, withdrawing Zavesca would hardly hurt her, she argued. It was the only available medication but both she and Jose Maria felt its side effects were harming Anabel.
Now they are pinning their hopes on a drug called Cyclodextrin to help Anabel.  It was recently authorised by Brussels as an “orphan drug” – one used for diseases or conditions affecting fewer than 200,000 people worldwide.
The Barcelona hospital treating Anabel accepted that Cyclodextrin was now a recognised “orphan drug” but claimed it could not at present be administered to humans.
Maite and Jose Maria are determined to carry on the fight for alternative treatment for Anabel and hope to persuade the ministry of Health to authorise Cyclodextrin’s use. “Perhaps it is too late for our daughter, but it could still help others.  We have to try,” they declared.
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