40 years awareness of “Rare disease” – Anna and Giuseppe Baschirotto
My visit to B.I.R.D. in September 2017 by Verena Gutmann (IPWSO Board Member – Austria)
Some weeks ago I visited the B.I.R.D. Institute (Baschirotto Institute of rare disease) in Longare di Costozza, a sleepy little village near Vicenza. The agreement between B.I.R.D. and IPWSO needed to be confirmed again and signed.
The B.I.R.D. Institute makes it possible to perform the IPWSO diagnostic molecular tests which allow confirming or excluding the Prader-Willi syndrome in countries which cannot afford the special technical equipment to provide the diagnosis on site. This is the only life-sustaining option for many affected families to care appropriately for a person with PWS.
It is very impressive to see how much mail the institute receives from all over the world. Even test samples on simple coffee filter paper arrive when laboratory filter paper is not available.
Last time I visited B.I.R.D. was in 2002, when Giorgio Fornasier, father of the now 40 years old Daniele with PWS and the former president of IPWSO, organized the IPWSO members meeting of 25 nations at B.I.R.D. That was a truly emotional meeting!
Today, 15 years later, I was really impressed by the Baschirottos. Their life’s work is characterized by their never ending support and their confident empathy. Mauro, their son, died at age 16 because of the now known Apeced autoimmune syndrome. It was then that they decided to support research and therapy for rare diseases. Today, a very dedicated team of molecular biologists, human geneticist and MD´s make it possible to diagnose rare diseases like Prader-Willi Syndrome, Apeced Syndrome, Lesch Nyhan, Krabbe Disease and Metachromatic Leucodystrophy.
Outpatient medical care and rehabilitation programs are also offered on this site. In former times the property was the summer residence of Venetian aristocrats. Later on nuns used it as an orphanage, before finally the Baschirottos became the owners.
It is of great importance that affected families can meet and share in this special environment. They can experience here that support is offered and that they are not alone in this situation. Because of the close contact with Giorgio Fornasier, Prader-Willi syndrome found particular attention at B.I.R.D. PWS rehab camps are offered here twice a year. During these camps, PWS individuals and their families benefit from medical care and also learn more about PWS management.
Beside the DNA diagnosis, PWS genetic research is conducted here. Currently test samples of four PWS patients are kept here under special conditions (temperatures of -80° Celsius) because the financial support of the Canadian Foundation of Prader-Willi Research for the project “Insulin driven-translational capacity is impaired in fibroplasts of Prader-Willi Syndrome” ended. A new sponsor has to be found…
It was such an impressive experience for me to meet a couple like Anna and Giuseppe. Their charisma, their commitment and their humor are priceless, and their encouragement to keep supporting PWS families worldwide is much appreciated.
IPWSO expresses its huge gratitude to the Baschirotto family and their team of staff who make many PWS diagnoses for families around the world. All PWS diagnoses are subsidised by IPWSO and free where this is otherwise unavailable.
