My son is two years old, and has seen twelve different doctors in his life.
His weekly schedule is jammed packed with 11 hours of therapy – PT, ST, OT, ABA, ITDS – a sea of simplified acronyms for a world that is so complex. Curren is a busy guy. He enjoys new environments and meeting new people. His favorite color is orange, and he is a thrill seeker. He giggles when startled (more like laughs in the face of danger), loves loud noises and bright lights, and gets a big kick out of being turned upside-down. He is a water baby, and loves to swim in the pool and relax at bath time. Life is instantly better if performed with song and dance, and I pity the person who stands in the way of Curren and his food.
Curren’s first few weeks of life started out calm and beautiful. But he caught his first cold when he was 6 weeks old, and was perpetually sick for the next year and a half. We went to the ER at 4 months old due to respiratory distress. Shortly after, Curren was diagnosed with failure to thrive due to weight loss. At daycare, the main caretaker pulled me aside one day and told me that Curren wasn’t like other babies and we should talk to a specialist. At this point, he was behind on developmental milestones. Over the next few years, Curren’s growth and development remained stagnant as we desperately tried to pinpoint the reason behind his delays and regressions. Eventually we arrived at an answer through Whole Exome Sequencing. Curren is the fourth person in the world to be diagnosed with HIVEP2 Syndrome. He has a loss of function mutation in the HIVEP2 gene that affects brain growth and development, immunity, hormone production, and bone remodeling.
What I had least expected from this journey is the underwhelment that has occurred since we received the diagnosis. I have been unsuccessful in finding a doctor or program that understands this ultra-rare condition or that is interested in learning more. We have been specifically excluded from rare disease studies due to the fact that we already have a diagnosis. But what good is a diagnosis if there is no support, no management, and no treatment options? So far, this journey has not been easy. Seeing my son work so hard to learn a skill, only to lose it for months is honestly heartbreaking. But the reward of celebrating inchstones is no better appreciated when you truly understand the magnitude of effort it took to arrive at that point. Life is enriched by difficulty, and I am grateful each day for the beauty that is given to me.
My hope is that organizations like Global Genes bring a new level of awareness to a critical issue. More people are affected by Rare Diseases than cancer and AIDS combined, but many with Rare Diseases have no resources, support groups, or research opportunities. A doctor that saw us recently said that Curren is a pioneer, and is just writing the beginning of the story. It would be a much better journey if we could find others to help us write the best story possible.