Derek from Pennsylvania
Derek was diagnosed with HCU during the newborn blood screening, so we were lucky enough to have been able to start treatment from birth. As for most parents, the initial phone call we received was shocking and filled with many unanswered questions. We received the call from our local lab who said there was an issue with Derek's labs and we needed to set up an appointment at our local Children's Hospital. The following week we were seen at Children's Hospital in Philadelphia (CHOP) by the genetics team. Many of our questions were still not answered at this appointment, but we were told to start him on a special formula and that he was not able to break down protein. We did some research on the internet which was a big mistake as most people know this can cause a lot of fear (my best advice - do not google HCU). We do have a good team at CHOP and they were able to provide us with some reassuring answers and have been very supportive ever since.
Derek is now 16 and will turn 17 in February (2020). He does not talk about the disorder and he keeps it very hush, hush. We struggle with getting him to take his medicine and follow his diet. To date I am very thankful he has not had any medical issues, but I worry daily about the side effects he may experience because he does not take HCU serious. His levels are never at a normal range and for the most part are extremely high. At his age, he needs to be accountable and it is very hard to make him understand that. He is very involved in sports and is very athletic. As parents, we are extremely thankful he leads a normal life, and outside of the diet and medicine he is very lucky. Trying to get him to understand the long term effects has been our biggest challenge. I have recently become part of the HCU Network America group on Facebook and the support from there has been a great help to me. Before that it was just me researching and not having any support or others to talk about his issues. We met some of the members over the summer in Atlanta and that was an incredible experience for me. I hope one day as he matures, he will find support and help in the group as well. Explaining the disorder is also challenging because of how rare it is. Derek is also in the new OT-58 study and is part of the second group. We have not had much feedback and have no idea if it is helping or not. But the nurse comes weekly and we go to CHOP every 6 weeks. We pray this may be the answer patients have been looking for but only time will tell. He still has about another year in the study. Our story is pretty simple but nonetheless I wanted to get his story out there. All of the support is appreciated even if he does not want to participate; it helps my peace of mind.