Rare diseases, families: “The law is an important first step”

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Italy has one law on rare diseases. The single text «Provisions for the treatment of rare diseases and for the support of research and production of orphan drugs» was unanimously approved in the Senate in recent days. An important step by the institutions towards over two million people, in many cases children, who live with a rare disease in Italy.

A condition that distorts the lives of families, forced to fight with diseases for which there is often no definite cure. As for Roberta, 5 years old, born with a campomelic acampomelic dysplasia. A pathological so rare that in Italy it has only affected Roberta. In the world there are a few dozen cases.

“This law offers guarantees but like all laws it must be applied and monitored,” he comments Fortunato Nicoletti, father of Roberta, vice president of the voluntary association Nobody excluded and representative ofRare Diseases Alliance. “It is a text that has had a lot of support from associations and in this sense it can make a difference for all our families”.

The law provides for free care and assistance for rare patients, early screening, support and tax incentives for research, a solidarity fund to support patients and families, which did not exist in Italy. “The fund that has been set up is very important but has been endowed with one million euros, if we think that there are two million sick people, it is an inadequate fund. We hope that funds can be found in the tax decree and in the budget law to replenish it ».

The law establishes the immediate availability of prescribed drugs and a tax credit of 65% of the expenses incurred for research projects on orphan drugs. “Only class A and H drugs are indicated, those classified as lifesaving, the problem is that Class C drugs they are not guaranteed free of charge and this is a critical issue because rare diseases, in 90% of cases, do not have a specific cure. There is therefore no single drug that cures you, for this reason we also need class C drugs which, although not life-saving, serve to maintain an acceptable state of life. It is important that they are equated with others “.

For many families, not having drugs readily available often means traveling across the country, out of their region to receive treatment. “Having reference centers for rare diseases in each region is essential for our families, we almost never have a hospital downstairs that can take care of us. Furthermore, having home, health but also social health assistance is a great advantage “.

When he talks about the birth of his daughter Roberta, Fortunato Nicoletti identifies a before and after in the life of his family. “We had no disability expertise, in pregnancy no one had given us signals, when she arrived and for a year she never got out of the ICU it was devastating. She never got home until after 8 months, then she came with a lot of aids, so the house was invaded by machinery and nurses “.

Then Fortunato decided that he would not let himself be overwhelmed. “We immediately began to fight for our daughter’s rights but these fights become ends in themselves if they are only for your daughter, so we thought they might be useful to others. Thus our association was born and shortly after the book, which bears the same name. The goal is to help people react. Roberta has made a lot of progress, she has fought with us in these five years and as an association we have allowed many to regain that right to be people ».

Other stories of Vanity Fair that may interest you:

-Rare diseases, Armanda Salvucci: “I’ll tell you about achondroplasia”

-Rare diseases, Alessia: “I’ll tell you about my special brother”

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