Often in life we have a vision of what we want or imagine our lives to be like, but along that journey, life presents obstacles and opportunities for us. It shapes us and makes us who we are.
My own journey started with its own twists and turns. I was born in Medellin, Colombia and moved to Seattle with my mom at the age of 7. Two months later I got sick. I couldn’t stop throwing up and had a hard time waking up. A year after being hospitalized on and off at Seattle Children’s, I was diagnosed with a cavernous malformation and had brain surgery two months later. My chances of surviving the surgery were small. In Colombia I would have died, but Seattle Children’s saved my life.
When I gave birth to my daughter, Mariana, 27 years later, I never imagined that she too would face a serious medical condition. Much of my life was impacted by my medical condition, but it was nothing compared to what our family would experience as we learned Mariana had an incurable rare disease. It was the beginning of a life-changing journey for our family.
Mariana was born in 2012. My heart was full, but my motherly instincts told me that something was not right.
Mariana couldn’t hold her head up, couldn’t sit and couldn’t crawl because her head was too heavy. My husband and I shared our concerns every visit we had with our pediatrician. Then we were referred to a neurologist at Seattle Children’s when Mariana was 6 months old.
In that appointment, we received the first of many diagnoses to come. There, we learned that Mariana had hydrocephalus, and just two days later, she had surgery to have a shunt put in. It was stressful to say the least, but we felt at peace knowing that Mariana was in the best place she could be with an amazing team of doctors.
After surgery, Mariana started making developmental progress and it wasn’t until two years later that Mariana was diagnosed with Pfeiffer Syndrome and she started seeing the team in Seattle Children’s Craniofacial Center.
Pfeiffer Syndrome is a rare genetic disorder which causes bones to fuse prematurely or extra bones to grow in different parts of the body, including the skull. Symptoms and severity can vary on a spectrum from very mild to life-threatening. If not corrected, fusions in the skull can affect growth of the brain. As bones continue to fuse, or grow excessively, many serious health concerns can arise.
Finding the positive in a rare disease
During the first five years of her life, Mariana spent a lot of time at the hospital seeing around 16 different specialists and making quite a few trips to the Emergency Department. We were at Seattle Children’s several times every month.
Mariana had a lot of respiratory issues and constant croup. Her body was sensitive to heat and her eyes were sensitive to light. As is common in Pfeiffer Syndrome, her skull became fused together.
We tried to look for the positive in everything that came our way. Children with Pfeiffer Syndrome usually have 30-50 surgeries over the course of their lifetime. We are thankful Mariana has only needed three brain surgeries so far.
Through it all, Mariana always has a smile on her face. I remember when Mariana had surgery to repair her blocked shunt. She had been having gradually worsening headaches every day leading up to the surgery. After the procedure, Mariana looked at me and said, “I don’t have a headache anymore.” In that moment, I was amazed by how she found only the positive after going through so much.
This fall, Mariana will most likely have a big facial reconstructive procedure to move her whole face forward over three months. When I ask her about it, in typical Mariana style, she tells me she’s not afraid, but excited to have the procedure.
An unfortunate thing is that in addition to all the health issues that Mariana has had to face, she has to also deal with social issues. Mariana and most children with craniofacial differences confront stares, unpleasant comments and bullying on a daily basis.
Thankfully, Mariana deals with it so positively and lets children know, “I have big eyes because I have Pfeiffer Syndrome,” or strikes her signature pose and decides to take the stares as a compliment. Mariana’s attitude toward social situations inspired me to start a book series called Lucy’s Journey. Based on Mariana’s experiences, I wrote the first book, I am Lucy, and she is now the co-author of the second book, Lucy has a Baby Brother, which comes out this Christmas.
As hard as it is to think about the physical or emotional pain, her big and brave heart continues to change our whole family’s life for the better. I can only see her as inspiration to us and to the world. I pray that nobody and nothing changes her happy and spunky personality. I love this about her.
The birth of BORN A HERO
Her experience has also motivated me to embark on a path I never dreamed I would take in my life. Seeing Mariana’s medical struggles and her positiveness in dealing with things, led me to start a nonprofit called BORN A HERO to help families navigate the medical and social complexities of Pfeiffer Syndrome. I love that I am connected to the rare disease community in this way.
The organization advocates for Pfeiffer Syndrome awareness and research through many different initiatives. One program we developed helps teach children at a young age to celebrate differences, including medical differences, to love yourself, and to choose to be kind. Because we first need to find answers before we can before we can continue to move forward with Pfeiffer Syndrome research, we’ve helped launch a natural history study of Pfeiffer Syndrome to better understand how the condition develops.
Mariana has also become a big advocate in the rare disease space and craniofacial community, and we’re excited to be participating in the 2nd Seattle Rare Disease Fair at Seattle Children’s Research Institute this month. BORN A HERO is proud to partner with Seattle Children’s to host this event that will connect rare disease organizations with researchers. Our hope is that by giving researchers an opportunity to learn more about our community, they will want to include a rare disease in the research that they are already pursuing.
Mariana loves going to Seattle Children’s because all of the doctors and nurses make it a happy place for all children. We are forever grateful for this. Thank you, Seattle Children’s, for saving my life so that I could have the joy of being a wife and mother. Thank you for saving our daughter’s life and thank you for supporting our efforts to make life better for children with rare diseases. Together, we have the opportunity to make a difference not just for children with Pfeiffer Syndrome, but for all rare diseases.