In July 2012, my little princess Amy became very ill and was diagnosed with Brown-Vialetto-Van Laere syndrome (BVVL syndrome), an exceptionally rare neurological disorder of unknown cause, characterized primarily by deafness and paralysis of the muscles of the face, neck, shoulders and limbs. Amy was only given days to live and we had to make a difficult choice on what was best for her future. Doctors told us they weren’t hopeful as she suffered cardiac arrest and was taken into intensive care where she stayed for six weeks.
Amy was born a healthy child with no problems up until the age of 20 months. Just before she turned 2 years old, she lost her hearing, her ability to walk, sit up, move any limbs, blink, swallow, cough, breath on her own or talk all in the space of a few weeks. We decided to give her a fighting chance for survival. As her Mum, I trusted my motherly instincts and asked for her to have an operation to have a tracheostomy placed and long term ventilation and gastrostomy.
Today, Amy is 3 1/2 years old and it has taken a lot of hard work to bring her back to being stable. With recent studies and a trial vitamin she is taking, she is walking well (actually running), started eating and drinking bits, can now blink, is able to have at least six hours a day off of her ventilator, can make noises and recently had signs of hearing some pitches. Originally, we were told she had a life expediency of weeks and then no more than 5 years. Now were been told she could live to be 10 to 20 years old. If this isn’t hope for a miracle, I don’t know what is.
Amy is only the 59th case of this rare condition in the world found in the past 100 years. If anyone has a child or loved one with this condition, please don’t lose hope as my little girl has done amazingly well and is a true miracle in our eyes.