The Lourenço Family Story

Daniel, born 2007

Adriana Lourenço of Bauru in Spain shares the story of her son, Daniel:

My son, Daniel, is 14 years old. We received the diagnosis of Pelizaeus-Merzbacher just two years ago. 

Daniel has motor difficulties as well as difficulty with speech and hearing. He started to have seizures when he was one and, until Daniel was ten years old, he was treated as an epileptic. Then, when he was about 11 years old, he started to lose muscle strength, have spasms, and express difficulty in understanding.

Today, he has a cystostomy as he has lost bladder function, an ileostomy to assist intestinal function, and a gastrostomy for stomach function. In addition, Daniel uses several medications daily. He can still make some movements, though the disease is advancing fast.

I feel it is very important to have contact with other families who also suffer from PMD. These communities are an important channel for us to exchange experiences, learn about PMD news, and talk about the research and studies.