Genetic Code Help, Hypo Prolinemia

I’m sorry that you seem to be having trouble with some of these pages. I just put the links into my browser and will look up the rare genetic codes that you provided to see if I can help you since you haven’t received a response. I’m also so sorry to hear that your grandson has this rare genetic cause for his seizures. I haven’t been on the site much, so that’s why I was delayed in responding to you. I do try to follow-up with those that I have responded to in the beginning. I hope to post again with some way to help you in the next day or so, possibly with some answers to your questions about how to use the resources the ConnectHelp provided you. 

I’m sorry that you seem to be having trouble with some of these pages. I just put the links into my browser and will look up the rare genetic codes that you provided to see if I can help you since you haven’t received a response. I’m also so sorry to hear that your grandson has this rare genetic cause for his seizures. I haven’t been on the site much, so that’s why I was delayed in responding to you. I do try to follow-up with those that I have responded to in the beginning. I hope to post again with some way to help you in the next day or so, possibly with some answers to your questions about how to use the resources the ConnectHelp provided you. 

Hi Erika,So, I was able to find some quick answers to your questions for you. The correct codes are PRODH and ALDH4A1. I found this on the page for the first link that was provided by ConnectHelp under the title where it describes Inheritance Pattern.Also, the REN page does allow you to join towards the top of the page under where it has the picture. The text that says “See the REN dashboard and make data requests!” is hyperlinked so that you can click on it. That will open it up to a new page where you can “login’. Select that and then choose Register here. It will then give you the option to sign up. As for why Hyperprolinemia is not on the Epilepsy Foundation’s Rare Genetic Epilepsy pages already...well, I don’t have an answer for you because I’m not on their staff, but my suggestion is that you could make the suggestion that they include it on another board within the forum called Advocate for Epilepsy. I did read about Hyperporlinemia and it sounds like it is rare for Type 1 to experience seizures, although it can happen as well as some other possible disabling conditions. If there is anything that I can do to help support you and your family during this time, please do not hesitate to reach out to me. As a licensed clinical social worker and certified rehabilitation counselor with a background in special education, I am well versed in a number of different disabilities, not just seizures and how they impact the lives of individuals and their families.