https://boards.hellobee.com/ Pregnancy, Baby and Parenting blog, by Hellobee en Thu, 04 Jun 2026 14:28:29 +0000 https://boards.hellobee.com/topic/genetic-disorder-diagnosis#post-1972691 Fri, 05 Dec 2014 14:52:29 +0000 Becksabee 1972691@https://boards.hellobee.com/ <p>@Ms.Badger:<br /> I believe they checked both, but I'm not 100%. They mentioned the level for the enzyme as well as gene mutation. It's not super low though. They said normal is 7 or above. His is 6.69 </p> https://boards.hellobee.com/topic/genetic-disorder-diagnosis#post-1972496 Fri, 05 Dec 2014 12:46:44 +0000 Ms.Badger 1972496@https://boards.hellobee.com/ <p>If I'm understanding correctly, they tested for activity of the enzyme and not just mutations in the gene, correct? I work in clinical genetic testing (but not specifically in this gene) and if you need general info feel free to wall me. </p> https://boards.hellobee.com/topic/genetic-disorder-diagnosis#post-1972455 Fri, 05 Dec 2014 12:27:34 +0000 Mrs. Tiger 1972455@https://boards.hellobee.com/ <p>I'm not familiar with this disorder or generally, but I do have a LO with chronic health issues. Wall me if you want to talk! Good luck to you both. </p> https://boards.hellobee.com/topic/genetic-disorder-diagnosis#post-1972449 Fri, 05 Dec 2014 12:24:11 +0000 RsMom 1972449@https://boards.hellobee.com/ <p>Fabry disease runs on my mothers side of the family and I have family members that have it or are carriers with no symptoms. The treatment has come along way and the enzyme replacement therapy has helped a lot of people.<br /> They will probably suggest that you get your oldest LO tested too just so that you can know if they carry the gene.<br /> My son was born with a genetic endocrine issue and we did genetic testing and genetic counseling for it when he was a baby. Before the appointment I made sure to write all my questions down so that I wouldn't be on the spot when we were there. They were really good at going through the inheritance and how it would affect future children/grandchildren. </p> https://boards.hellobee.com/topic/genetic-disorder-diagnosis#post-1972394 Fri, 05 Dec 2014 11:51:34 +0000 BabyBoecksMom 1972394@https://boards.hellobee.com/ <p>&lt;3 I agree with @FliegepilzHut: that there is some good in knowing that there is an enzyme replacement out there. </p> https://boards.hellobee.com/topic/genetic-disorder-diagnosis#post-1972388 Fri, 05 Dec 2014 11:48:31 +0000 FliegepilzHut 1972388@https://boards.hellobee.com/ <p>@Becksabee: As hard as this is, it sounds like great news that there is now an enzyme replacement! Hang in there, mama! :heart: </p> https://boards.hellobee.com/topic/genetic-disorder-diagnosis#post-1972376 Fri, 05 Dec 2014 11:38:47 +0000 Lilbear 1972376@https://boards.hellobee.com/ <p>I have had experience with genetic screening with my LO. She has a hereditary seizure disorder that showed up when she was 6 months old. We had to have blood work/genetic screening done to verify the cause of the seizures, and we will have to have this same screening done with any future children that we may have. It super sucks, but it is in their best interest to have all the information up front so you can make well informed medical decisions on their behalf. I'm sorry you are going through this. It's so tough https://boards.hellobee.com/topic/genetic-disorder-diagnosis#post-1972326 Fri, 05 Dec 2014 11:09:03 +0000 MrsRcCar 1972326@https://boards.hellobee.com/ <p>Thinking of you. :heart: </p> https://boards.hellobee.com/topic/genetic-disorder-diagnosis#post-1972308 Fri, 05 Dec 2014 11:00:11 +0000 autumnlove 1972308@https://boards.hellobee.com/ <p>Thinking of you. &lt;3 </p> https://boards.hellobee.com/topic/genetic-disorder-diagnosis#post-1972302 Fri, 05 Dec 2014 10:54:50 +0000 Becksabee 1972302@https://boards.hellobee.com/ <p>Our new LO (now 5 weeks old) had something come up on the newborn screening for Fabry Disease ... which is a missing enzyme that can cause problems later in life. They said they just added to the screening recently because they can now replace the enzyme. It wasn't showing he was completely missing it, his level was just on the low side.</p> <p>We had to take him to a children's hospital when he was a week old to get blood drawn for the genetic test, which they sent off to Mayo. Got the call this morning that the second test was also low and they do think he has the disorder. They said they don't do any sort of treatment during the newborn period, but they want to set up with a genetic counselor to talk about the disease and treatment in detail. Just curious if anyone else has gone through this. I'm guessing they will want to test our 3 year old for it as well. </p>