Gaia was born in Mangenta, Italy 10.June.06 with no apparent problems.
But as new parents it was several months before we realised that something was different from other children. We then started a long ordeal of tests, surveys… without being able to arrive at an answer… then finally we went to Mondino of Pavia where through muscle biopsy they diagnosed nemaline myopathy.
Gaia is a serene little girl, sweet, never had problems swallowing and nutrition, breathing independently. Hypotonia is apparent, she tires easily. Certain milestones were never reached (crawl). But now, two years later, she is taking her first steps aided by a walking frame. Of her illness, what has hurt us more was the lack of support structures that we always spend too little time, waiting too long… and in these cases we have learned more from this website, and meet other families with our own problem. Thanks to this useful site by DAVID. A heartfelt thanks to him !!!!!
Sonia, Michele and Gaia

Gaia. June 2008

Giacomo was born on the 5th of July 1993 in the hospital of Albenga, weight 4180g. At birth he was cyanotic but he soon recovered without needing oxygen. He was also very hypotonic and could not be breast-fed. For this reason he was transferred to the G.Gaslini hospital in Genoa where after having been examined, they found everything to be normal. The doctors thought that Giacomo had suffered during birth. Our baby slowly learned to suck and with the help of his physiotherapist could sit within 6 months and walk by 15 months. As he fell frequently he wore a helmet. Within 18 months he suffered from his first bronchio-pneumonia. At 22 months, at the suggestion of the paediatrician, Giacomo underwent a muscle biopsy, and nemaline myopathy was diagnosed. There after, Giacomo continued to make progress. At the age of 3 years he had learned how to get up, while sitting on the floor, without any help; he started to go to prep school where he learned to climb on seats and tables and to scale stairs with the help of the banister. Now Giacomo goes to school, he is very intelligent and nearly totally independent. He has many friends who help him every day. He is learning to swim but he cannot run, jump or carry heavy things. He walks slowly and tumbles now and then. Going up is quite a strain, especially stairs. When he is not tired we encourage him to do everything himself. His voice is very nasal especially so after his tonsils had to be taken out. He has speech therapy. He did not have any respiratory problems since he was vaccinated at the age of 2 years with the antipneumococci vaccine "PNEUMO 23" of the Pasteur Institute, Paris. Every day, Giacomo gives us much satisfaction. He is very affectionate and everybody loves him. We wish that he could have a quiet life and accept his disease without problems. Thank you David for what you have done for us. Hope to hear from you soon.

Monia and Domenico Bogliolo

Giacomo with his sister Eleonora

Beatrice Bogliolo, (b: July 8th, 2003)