Curren was born a magical baby, so sweet and happy. I fell completely in love, and those first few months of Curren's life were some of the best of mine so far! It soon became obvious that Curren was different than most babies. He was not hitting developmental milestones, he had trouble eating and gaining weight, and he wouldn't bear any weight on his legs. We started seeing a Neurologist and a Geneticist, and by the time Curren was 9 months old, we had accumulated "normal" results from a brain MRI, EEG, Chromosomal Microarray, Comprehensive Metabolic Panel, and many other specific tests. We started Early Intervention physical, occupational, and speech therapies, and began part-time daycare at an early intervention preschool. We expanded our team of medical specialists, adjusted Curren's diet, and started daily supplements.
We received a diagnosis for Curren just after his 2nd birthday. He has an incredibly rare neurogenetic disorder that affects brain growth and development, called HIVEP2 disorder (named after the gene with the mutation). The clinical features of HIVEP2 dysfuntion are moderate to severe intellectual disability, developmental delay, autism spectrum disorder, easy fatigability, and hypotonia (low muscle tone). The HIVEP2 gene's function is very complex - it is responsible for regulating the activity of many other genes. Curren’s variant is predicted to be damaging to DNA structure and function, resulting in loss of function in the brain. Other areas that seem to be affected are immunity at a cellular level, brain signaling pathways, pituitary hormone production, bone remodeling, and memory.
Curren turned 3 last September. He goes through periods of regressions, and is pretty much at the level of a 15 month old in most aspects of life. We have developed an incredible team of therapists, doctors, nurses, teachers, and advocates, and are forever grateful to all the people that have made a difference in Curren's life.
Despite the challenges, my heart is full. We are so thankful for the perspective Curren has given us. We celebrate small inchstones for what they are - magnificent accomplishments not to be taken for granted. We are so proud of Curren's triumphs, and look forward to what the future holds. To infinity and beyond....
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