JScreen - Pontocerebellar Hypoplasia Type 1A

Imagine my surprise! I was messaging with one of my cousins regarding World Rare Disease Day. She's only been married for about a year so I decided to remind her that when they are ready, she can be tested for VRK1. I told her all she should l have to do is let her doctor know there is a family history. She told me they were planning on using JScreen. She sent me a link to the diseases JScreen tests for and can you believe it; Pontocerebellar Hypoplasia Type 1A is on the list. Really this can't be. I decided to send them an email because you can get Pontocerebellar Hypoplasia Type 1A from more than just a mutation of the VRK1 gene. I emailed JScreen saying I saw Pontocerebellar Hypoplasia Type 1A on their list but I wanted to confirm it was caused by the mutation of the VRK1 gene. The amazing reply I got "Thanks for reaching out, and I'm sorry to hear your son had pontocerebellar hypoplasia Type 1; (VRK1) is on our panel, so your family member will be screened for that condition. If you would like to see a full list of diseases on the panel, check out our website." Again, REALLY! This blew my mind. I am checking with them to make sure they can test for the exact location of the mutation on the gene for our family history, I'm expediting they will be able to.

JScreen was not around when Brian and I decided to have kids. It was started in 2009 by a family who was screened for Jewish genetic diseases to have their daughter diagnosed with Mucolipidosis Type IV (ML4), a very daunting and completely preventable Jewish genetic disease. The couple was screened for Jewish genetic diseases beforehand, only to realize the test covered just 8 of the 19 most common ones at that time. Along with Emory University, JScreen was born. Now there are over 200 genetic diseases on their list, some Jewish related, others not. Again, REALLY! JScreen aims at spreading awareness of Jewish genetic diseases through both education and testing. At this point and time, according to JScreen, less than 1 in 500 people are carriers of PCH1A. These numbers will be adjusted once more data is collected. In order for more data to be collected as well as to find others who are carriers of PCH1A as well as other genetic conditions, we never know if someone is a carrier unless they are tested.

Bottom line, CAN YOU BELIEVE IT PONTOCEREBELLAR HYPOPLASIA TYPE 1A; VRK1 IS ON THE LIST OF TEST THROUGH JSCREEN. ONE DAY IT WILL BE ON MORE.