I was born in 1988 in the North-East of France from a family of four, which I am the youngest. I grew up playing with my brother and sisters without any trouble until 1997, when I was 9 years old and suffered a fracture on my left leg with biopsy of the tibia bone that revealed an osseous anomaly. Throughout the following year, multiple lesions on the ribs, tibia, skull, spleen, cervical, and left arm (with metal brackets inserted into it and the wear of a protective corset) were discovered. No treatment was proposed for still an unknown disease. On November 1998, I suffered pains in the back, tibia and vertebral column together with a fracture on the ribs 2 months later. After many different consultations in Nancy and Paris, doctors talked about osseous angiomatous lesions and then in June 1999 they put a name on my pains “cystic osseous lymphangiomatosis”. I felt anxious and affected by all the exams I was enduring and the fact I just could not live like other children. In August 1999, I was admitted to the Herriot Hospital of Lyon where I had a complete medical control and received pamidronate injections intra venous (Aredia) + vitamin D and calcium. My spleen and column were strongly affected but we all felt better that I had a treatment. Doctors talked about a rare osseous disease, invalidating and potentially evolutionary, called Gorham.
Everything was going fine with Aredia injections in Lyon, that occurred quarterly over a 3 day period, until July 2002, when I began to have multiple epilepsy attacks (through visual troubles). I had an electro encephalogram and a cerebral MRI that revealed multiple lymphangiomatosis in the skull. Doctors prescribed anti epileptic drugs as well as an anxiolitic.
In November 2003, doctors decided to adjust the Aredia injections in Lyon every 6 months over 2 days (considering my growth) and between April and December 2004, after having experimented MRI and scanners, we were told the disease is active again, affecting the 4th cervical, with new lesions on the dorsals as well as a lumbar and demonstrating that the lesion on the leg had progressed.
French doctors did not take any decision in regards to the evolution of the disease so my family decided to search for a solution, beginning with the Internet. They didn’t take long to create an association, l’Association Française d’Aide et Soutien aux Malades de Gorham, AFAS (www.gorhams.org) and my great mum established a valuable contact with the Boston Children’s Hospital where my medical record was immediately sent. On July 8th of 2005, my mother and I met Boston’s medical team and I must say this trip changed my life. First of all because I had the feeling -for the first time- that doctors really know about the disease and willingly accepted to share their knowledge and experience by talking about the research they were performing. Most of all, they agreed to cooperate by suggesting the implementation of a treatment they believed should have positive effects.
In the following months, my family and the whole association were fighting in France so that I could receive the treatment proposed by the Boston medical team. The French health department did not authorize such a treatment and we all looked for a solution abroad. In December, thanks to a very valuable contact established with Dr Juan Carlos Lopez Gutierrez in Madrid (who knows about the disease and is willing to collaborate), I finally start the treatment.
As a result, I had been living in Barcelona since December 2005, where my older sister was already established with her husband. My mum retired shortly afterwards and moved one year later to be closer to us. I never felt so good; the lesions remain stable, whereas some of them could have improved slightly with more bone density. I removed my protective corset and have less epilepsy attacks with deletion of 3 drugs.
The AFAS association, created by my family and their friends, has grown since 2004, and I would like to thank my wonderful family and all the people who helped me and who is helping other affected persons. I would also like to thank my doctors, Dr. Klement, Dr. Lopez, and Dr. Baselga for their constant efforts and dedication and also thank associations like www.anomalievasculaire.org, www.lgdalliance.org and www.gorhams.dk. I encourage everyone to keep a positive attitude at all times.