Welcome!
Welcome to our home page: 'Ciao!'
If you've taken the time to open this page, there's a good chance you know about us already. Perhaps you have a child, a relative, a friend or an acquaintance who was born with the disease we're doing our best to find a cure for:
Shwachman-Diamond Syndrome.
The Association
AISS - Italian Shwachman-Diamond Syndrome Association was created a few years ago, by 5 families living in different parts of Italy. Our aim is to offer all the help we can, however little, to anyone and everyone having to deal with this syndrome, which doctors often struggle even to diagnose.
Our motto is simple: 'A small gesture to foster a great hope: find a cure for Shwachman-Diamond Syndrome.'
The Syndrome
Shwachman-Diamond Syndrome (SDS) is a rare disease whose frequency, though difficult to determine exactly, is currently estimated at about 1 in 100,000-150,000 live births.
The basic clinical features are pancreatic insufficiency at birth, resulting in slow growth, with haematological and bone disorders.
For more detailed information, click here.
Guidelines for the management of hematological complications in SDS
Stem Cell Transplantation in Patients Affected by Shwachman-Diamond Syndrome: Expert Consensus and Recommendations From the EBMT Severe Aplastic Anaemia Working Party.
Cesaro, S. et al. Transplant Cell Ther. 2022 Jul 20; S2666-6367(22)01472-5.
View article
Press release Dr. Simone Cesaro
Italian Registry
The Italian SDS Registry (Registro Italiano della Sindrome di Shwachman-Diamond) is a research project to collect and analyse clinical data of patients with SDS, the aim being to improve scientific knowledge and treatment of this rare disease. Visit the site!
Personalised gifts to support us
We prepare personalised celebratory scrolls and party favour boxes, if you wish to use a festive event as an opportunity to support our Association.
Information on the Donate page.
