International Niemann–Pick Disease Alliance
Sometimes in such a big organisation as the INPDA, our various member groups can be overshadowed, but we want to show just how important each and every member group is in making the INPDA work. In the INPDA Spotlight this month is Associazione Italiana Niemann Pick Onlus. In the post below we learn more about their wonderful organisation, including their history, the opportunities they have had, and the challenges they have faced.
Tell us how your organization got started.
The association was founded in 2005 by the will of Luigi Bonavita, father of Erika and Stefano, both suffering from Niemann Pick type C. The association’s objectives are many: to promote awareness about this disease and other similar diseases; offer these families the opportunity to exchange experiences and discuss among themselves; favor early diagnosis. Our association currently has 80 members.
What are some of the opportunities that your organization has?
Our association has created the “Day to Day care” project which includes almost all the activities carried out in favor of our patients and their families. Training courses on patient home management, support for families both of an emotional-psychological type but also practical on requests for aids and tax benefits, the organization of meetings with expert clinicians on Niemann Pick’s disease, the creation of meeting moments for families, are all activities that are part of this big project that was born at the same time as the association was born.
What are some of the biggest challenges your organization faces?
In 2009 the association participated in and promoted the multicenter study that led to the approval of the drug Zavesca (now Miglustat) for the treatment of the neurological symptoms of Niemann Pick type C. It was a great achievement for both patients and their families because having a treatment, even if it does not resolve the disease, changes the way you face the situation.
Are there government resources and support available to those in your community?
Yes, there are many tax breaks and social welfare benefits (e.g. invalidity pension) but they are always difficult to access and strictly related to the family income and / or the civil invalidity score assigned to the person. Each pathology has a percentage based on which benefits are paid, but it also depends on the level of severity of the disease. The scores are assigned by a “multidisciplinary” commission that often does not assign scores correctly, especially when there are patients who have no symptoms so obvious: families therefore have to assist alone a person recognized as autonomous and able to work, but who in reality needs 24-hour support. There are also differences between regions because health care is delegated to the regions with expense amounts allocated differently.
Are there gaps you see currently or emerging in the support government gives your community?
There are gaps in the patient care system: there is a lack of direction in the treatment of the rare patient, due to a lack of collaboration between specialists that causes a sense of fragmentation in the patient. Also from the welfare point of view there are several things that could be done better by collaborating between associations and public bodies. Now a legislative decree has recently passed which provides for the co-planning between public administrations and third sector entities: we will see if and how it will materialize. We can certainly be of great support to each other by making contributions and different points of view to the patient’s care. Another big gap is the care of the adult patient: most of the centers of reference for the pathology are pediatric and when the patient becomes an adult, he is “broken up” among various hospitals, thus losing 360 ° monitoring of the person’s pathology and state of health.
What would be your one wish for your organization in the years ahead?
To be able to restart the “Take care” project that we had to stop due to Covid. The project provides for the sending of specialized operators to the patient’s home to supplement the home care provided by the NHS. The association would like to work together with the operators who already provide assistance to the patient in order to build a project tailored to the individual patient, based on his needs and those of his caregiver; this would make it possible to improve assistance and ensure that the impact of the project is long-term therefore also at the end of the project. We would like to be more involved internationally and be able to follow more what is happening in the rest of the world for what concerns research on Niemann Pick and lysosomal diseases in general.
Is there anything else you would like to share about your organization?
The training summer camps that we have organized for years (and which we hope to be able to restart soon) have taught us a lot: thanks to the importance we have always given to the opinion of families, by detecting of their needs from time to time we have been able to understand what is really helpful for them. The risk is often to stay too much on the other side and undertake projects and actions that in fact do not have such an important impact for the people for whom the association was born. Never forget to listen to families and learn from them!
A huge thank you to Associazione Italiana Niemann Pick Onlus for taking part in our INPDA Spotlight series and providing an insight into their fantastic organisation. If you want to learn more about Associazione Italiana Niemann Pick Onlus email info@niemannpick.org, take a look at their website here, or see what they have been up to lately by checking them out on Facebook. If you are interested in learning more about the member group that represents you, why not check out our ‘About’ page for a list of the organisations that are part of the INPDA? Stay tuned for another INPDA Spotlight next month!