“Receiving the diagnosis of Sofia syndrome was a shock. First because of the impact of the news and then because of the lack of available information.
Jacobsen Syndrome is a very rare condition that is estimated to affect 1 person in every 100 births. It is caused by a small change in the long arm of chromosome 11.
After extensive research, I discovered an American NGO called 11q to support family members of people with Jacobsen and support research on the subject. I was welcomed by this group who invited me to participate in a biennial conference that takes place in San Diego, California.
For me, it was a unique and very important experience, as I met other families there and learned a lot about the syndrome and its care.
I was thinking, then, that not everyone had access to information in English and it is not always possible to participate in the conference, so I became the Spanish representative of this NGO and decided to make the information I receive in Portuguese available to also help other families.
It was from there that I created the blog Maternidade Rara. On the blog, I tell a little about our history and provide different information”, says Mariana Melzi.
Mariana is the mother of Sofia, who has Jacobsen Syndrome, a rare disease caused by the deletion of a small portion of chromosome 11. In addition, she is the Spanish representative of the American NGO 11q that provides support and organizational efforts to parents, friends and family. of patients with Jacobsen syndrome.
Dear readers, we inform you that comments made on Marianna Gomes' articles cannot be answered. Our dear columnist left this earth plane in June 2018, and is now illuminating other spheres. We are very grateful for her interest, and also to her for having contributed beautifully to this project.
Immense gratitude.
