The story of Jennifer
2 of my 3 boys have BH4 Deficiency (PTPS Deficiency). My older one is now 10 and has speech and learning delays, but is one of the happiest, most accepting and loving kids you could ever meet. He is a friend to everyone! My youngest is almost 2 and also has motor and speech delays as well as delayed cognitive development. He loves his older brothers so much, and my 2 rare boys dote on each other.
Their roads are hard, they were both born at around 3 pounds and had to spend a month+ in the NICU. I almost lost both of them before they were born. I am so grateful for newborn metabolic screening because without it my eldest would not have been diagnosed properly for a much longer time, and the results of delayed treatment could have been devastating for his future development. I am forever grateful for the amazing doctors and researchers that have and continue to help our children reach their full potential through new medications and treatments.Â