tag:blogger.com,1999:blog-4675590510792979183.post678237698874352784..comments2024-03-18T19:18:39.701-04:00Comments on Uncommon Sense: Diagnosed. Danahttp://www.blogger.com/profile/11193445038085911249noreply@blogger.comBlogger6125tag:blogger.com,1999:blog-4675590510792979183.post-81412190378744653712023-12-23T01:37:14.961-05:002023-12-23T01:37:14.961-05:00It had been a while, but wondering how you are doi...It had been a while, but wondering how you are doing and whether you were able to find the strength to eventually open that next doorAnonymousnoreply@blogger.comtag:blogger.com,1999:blog-4675590510792979183.post-58700559522919167282018-10-20T08:24:17.575-04:002018-10-20T08:24:17.575-04:00My son was diagnosed with MED13L this week (18 Oct...My son was diagnosed with MED13L this week (18 October 2018), I agree with the bittersweet. I always lived with a little kernel of hope that he was delay, not disabled, and would eventually catch up. That door was firmly closed on Thursday and I'm trying to find the energy to push open the next door on the next chapter of our lives. I'm so tired.....Anonymoushttps://www.blogger.com/profile/11028330108800212673noreply@blogger.comtag:blogger.com,1999:blog-4675590510792979183.post-65971797207164872242018-05-15T20:22:06.599-04:002018-05-15T20:22:06.599-04:00My daughter turned 18 March 2018 and just last wee...My daughter turned 18 March 2018 and just last week she was diagnosed with MED13L. It’s been a relief finally having some answers. Nicolehttps://www.blogger.com/profile/05813646452076655518noreply@blogger.comtag:blogger.com,1999:blog-4675590510792979183.post-56019877527590863882017-06-29T18:29:28.791-04:002017-06-29T18:29:28.791-04:00I'm happy to hear that! i hope we will find ou...I'm happy to hear that! i hope we will find our answers some dayAnonymousnoreply@blogger.comtag:blogger.com,1999:blog-4675590510792979183.post-88621941790916511342017-06-02T01:15:36.508-04:002017-06-02T01:15:36.508-04:00She's Maya. Absolutely one of a kind. Teaching...She's Maya. Absolutely one of a kind. Teaching us all something new everyday. Dx or no Dx, she has an amazing team of people who believe in her and support her. You never gave up. Let's see what this next chapter brings. Anonymoushttps://www.blogger.com/profile/10568595972384386776noreply@blogger.comtag:blogger.com,1999:blog-4675590510792979183.post-66004990934903376962017-06-01T23:40:00.717-04:002017-06-01T23:40:00.717-04:00My daughter also has a rare genetic change. She i...My daughter also has a rare genetic change. She is one of about 200 or so diagnosed right now worldwide. Our numbers keep growing with so many more whole exome tests being run and there are probably a lot of undiagnosed kids and adult out there as well. It is a strange feeling being some of the "first" batch of diagnosed individuals. We have found that having the connection with other parents of kids with the same gene change is life changing. No one understands our kids like we do. We can see so many small similarities in our kids, but they are truly a spectrum from devastating epilepsy, to children with no seizures, but non verbal, to kids with speech (although they are the very rare ones right now), but other delays. I hope you do connect with the other families, it is the weirdest feeling when you almost instantly bond with a stranger because of this one little gene. Good luck on this new chapter. Yours, Maya's and your whole family's experience will touch even more lives moving forward. Karen Knoreply@blogger.com