It all started when…
Matheus turned 13 years old, and was diagnosed with BRS in 2017. New York City is his home. This is a little bit of his story, as told by Matheus’ mother, Jacqueline.
“It has been a long journey to get here: innumerable exams, countless therapies, and the most diverse list of uncertainties. Early on we realized that Matheus was not developing as expected. He was diagnosed with ‘failure to thrive’, severe reflux, and hypotonia, so we began the first of many series of treatments at two months of age. Over the years we’ve had physical, speech, occupational, aquatic, and equine therapies. With each exam came increased expectation and the inevitable process of more trials and errors. Doctors and therapists were always trying to find ways to improve Matheus's quality of life without knowing exactly the origin of the global developmental delays, persistent crying, sudden dehydration, sensory disorders, and ever-below-average growth.
At two years of age, we decided to have a gastrostomy tube inserted so Matheus could be fed with a hydrolyzed formula every hour. It was 24 hours a day of care. At age five, he started walking and underwent fundoplication surgery. It was a huge milestone because he was able to start eating orally again. Matheus started to become more independent and was able to enjoy his favorite things. He loves to be in contact with nature, whether on the beach, in the mountains, or on leafy fields each Fall. The ocean (where he learned to hold his breath underwater), the sand, the snow, the trees, are all a great exploration resources. Oh, and music! Matheus loves to dance. He listens to everything that beats, from classical to reggae to samba.
Unfortunately, the constant pains and potential seizure episodes prevent him from having a joyful and quiet life. We must always be prepared and ready to care for and protect him, or rush him to the Emergency Room. The doctors have not yet been able to discover the origin of his frequent abdominal pain, so once again we are trying a new diet, hoping that it works this time. Matheus speaks only a few words. He is learning sign language and uses a communication device. Most of the time, the limits of his communication can be circumvented, but it is very difficult when we need to know what he is feeling, where exactly it hurts … The lack of complete understanding as to how we, his family, can help him now, and in the future, is one of the most challenging questions that remains unanswered. Our daily life is full of near misses and absolute hits, of great love and small disasters.
Until the diagnosis, we had a very lonely path. We knew that Matheus was a rare child, but we did not have the benefit of knowing how. With the diagnosis, we somewhat understood the reasons behind many symptoms, but since BRS was discovered so recently, we realized that we are still at the beginning of our quest. We did not come this far to quit. We urgently need to intensify research and share information among the medical community and amongst the families affected by this rare genetic syndrome. Every little achievement is a great victory; every day is a fresh start, every mistake a chance to learn. We will not give up, we will keep doing our best. Matheus teaches us every day how to be strong. Even with the successive anesthesia, continual doctor appointments, an extensive routine of therapies and special diets, he rises every morning with a big smile and an enormous willingness to life to the fullest.”