WHO WE ARE

Presentation letter and invitation to the 18th October 2003 meeting

We are a group of parents whose children were born affected by Goldenhar Syndrome.
All of us, after a beginning moment of dismay due to the scarce knowledge of this pathology, felt the need to be able to know other parents that are facing our very problems.
The first contact took place also thanks to the http://fmfpc.altervista.org site through which we got to know and started to share our experiences.
Secondly, we felt the need to go farther, thus creating a specific Association that could take care of the pathology affecting our children.
Such opportunity was given us by M. Baschirotto Rare Diseases Association in Vicenza (Italy) that offered us its help knowing our intentions. And we eventually created an “Association inside the Association”, that is a Group devoted to Goldenhar Syndrome inside the Bird Foundation.
We maintain that this positively relevant opportunity allows us to act at once inside an organisation with an experience of many decades. It gives us the possibility to be visible on the http://www.birdfoundation.org Internet site - which is very often visited. And it also gives us the chance of letting the Goldenhar Syndrome be better known by the Authorities and seeing our rights recognised thanks to the importance of such a national Association.
As you can easily imagine, to make this enterprise effective and operative, it is necessary that all parents concerned devote some of their time in favour of this project. For such reason we thought that the first step was to gather, and associate the largest number of Goldenhar families. Besides, on 18th October 2003, at the B.I.R.D. Foundation seat in Vicenza (Italy), a meeting with all parents will take place so that we can finally know each other, exchange experiences, and plan future activities.
We hope there will be many of us!
We are looking forward to see you face to face!

SEE YOU SOON

SEPTEMBER 2003

PINO AND IVANO (FATHERS)

ELENA (MOTHER)

GOLDENHAR SYNDROME WHICH TOOK PLACE ON 18TH OCTOBER AT THE “M. BASCHIROTTO” CENTRE IN VICENZA (Italy)

On Saturday 18th October, 10 Italian Goldenhar families met for the first time at “B.I.R.D.” Centre in Costozza (Vicenza).
Guided by Mr. Baschirotto, we visited analysis and research laboratories of the Institute and learnt about future projects to study rare genetic diseases.

Mutual knowledge was as important as letting personal experiences with our children be known by other parents there. At once emerged diagnostic features common to all patients as well as those anomalies variety commonly associated to the Goldenhar Syndrome.

At first we concentrated on diagnosis. Since very few cases had a punctual description of the Syndrome at birth; some were defined “presumes Goldenhar Syndrome”. In other cases the name of the syndrome did not appear on the medical documents since only the visible anomalies were described. To obviate such inaccuracies, the “B.I.R.D.” centre itself made us available to provide a genetic consulence with a group of many doctors specialised in rare diseases on 25th November. Only thanks to a positive diagnosis, one can have exemption code n 0910 (patient affected by Goldenhar Syndrome) written on one’s health documents and consequently have a series of facilities and economic supports for specialist visits and drugs.

Each parents named specialises doctors or centres to which they turned to to solve malformation problems - and not only - affecting their children. Because we all had contacts, expectations and various opinions. Addresses were made mutually available, but we urged to understand concretely which are those highly specialised centres in Italy and abroad that take care of anomalies connected to the pathology. For this reason we decided to act locally, to signal specialised centres that can diagnose and care the Syndrome, according to the Italian National Law on Rare Diseases, passed on 18/05/01.

To act more effectively, we elected Mr. Giuseppe Troccoli, as the national representative and many other regional representatives. They are to act in the region where they dwell controlling that those centres are locally signalled in any region where the representatives live in. Besides, as far as the medical, side is concerned, we have the possibility of availing ourselves of the precious contribution of Professor Ammon Cohen, as scientific collaborator. He is the head physician of the Pediatric Department in the Hospital “S. Paolo”, in Savona (Italy).

We want to organise a medical-scientific congress in the future with the greatest experts in those fields connected to the Goldenhar Syndrome anomalies. In the meantime we are also planning a serious research project on the causes of the Syndrome in collaboration with “B.I.R.D.” Institute and other laboratories in Europe and all over the world which have already begin studies on the disease.

Thanks to a mother’s good knowledge of the English language, we can put us in contact with the Goldenhar Foundation and, above all, with the Dr. Goldenhar’s daughter, Edith, to whom we will ask some information and the latest news on the state of the research dealing with the pathology. For the same reason we will contact Goldenhar Parents’ associations in England, Scotland, Canada and the U.S.A., established since more than ten years ago. They are precious interlocutors as far as knowledge, high specialisation centres, psychological support and the latest news about the Syndrome are concerned.

We are confident that this first meeting was a necessary event, precious and constructive. We like thinking to the image of bricks: alone they do not mean much, but gathered with others - with constancy and time - can make a steady building, active and visible by all those parents and children that are and will be in need of our help.

SEE YOU SOON

OCTOBER 2003

Elena, Paolo and Pino