Our beautiful daughter, Faith Autumn Tremblay was born on 2/14/03 with a rare brain disorder is called Periventricular Heterotopia. PVNH is a neuronal migration disorder, which takes place during early stages of pregnancy. It is characterized by the presence of uncalcified nodules of neurons ectopically situated along the surface of the lateral ventricles. Faith has it on both sides of her brain. Along with this disorder she also has Epilepsy, Blood Dyscrasia's, Immunocompromised State, Borderline Aortic Root, Ehlers Danlos, Sensory Disorder, Speech issues and learning disabilities in Reading, Writing and Math.
Faiths condition of PVNH was instilled within her, it was not inherited, only 26% have the simplex case with no family history, which makes her case even more rare. This condition is prenatal and neonatally lethal to most males, but we have found a few miracles. Most males will die before they are born or within 5 months after birth. So the majority of affected individuals are females for that reason. When Faith was first diagnosed only a simple blood test for the FLNA sequencing was done. This was the standard testing when this gene was first found. Newer ways of examing the gene can tell if all or parts of the gene are completely missing. Recently it was found that some were found to have parts of the gene missing completely, giving them the symptoms of heterotopia.
Dr. Walsh at the Neurogenetics Clinic, Beth Israel Deaconess Medical Center in Boston, MA. is the doctor researching PVNH. See our Links page to help you get onto his site fast and easy to learn more about her condition. We sincerely hope this will answer more questions & we thank them for there hardwork and dedication.
Over the past 5 months Faith has been very sick. In December she spent 14 days at Yale New Haven Children's Hospital. After having endless blood tests, having samples flown to The Ohio State University Wexner Medical Center, having ultrasounds done on the lymph nodes in her neck, spleen and liver, echo cardiograms done on the chambers of her heart, receiving 2 rounds of IV immunoglobulin therapy, enduring a spinal tap and a bone marrow biopsy she was diagnosed with a severe case of Kawasaki Disease which triggered off MAS (Macrophage Activation Syndrome). This is a rare life threatening complication. Normally, when the immune system is activated, it fights the infection in a controlled manner. In individuals with MAS the immune system is uncontrolled & works in overdrive, leading to too much inflammation in the entire body. This inflammation is very serious and it made her very sick. She had a non stop fever of 103 to 108 over the course of 20 days. Her entire body was bright red and so forth. She is currently on a high dose of steriods & getting a once a month injection for the next year of Canakinumab, which is a monoclonal antibody that blocks certain proteins in the body that can affect inflammation & other immune responses. We will be forever grateful to the doctors, nurses and the whole staff in Unit 7-2. They never gave up and they saved her life.
Currently we have more than 300 families from over 24+ different countries, that have someone confirmed of PVNH in there family through social media on Facebook and Instagram.
And Faith Autumn's journey continues....