It's not quite that simple. I need to write this down so I can remember. Brynlee has one marker for Hurler's Syndrome. Most with this diagnosis have two. That can mean two things. Either both of her parents have the same mutation, or one has a mutation and the other has a deletion. Deletions are incredibly rare (we're already talking crazy odds!), so the most likely scenario is that deletions aren't involved, and both my sister and her husband have the same mutation.
So, I could be tested for the mutation. BUT, if it came back negative, it's still possible that I have a deletion. To test for both would be quite expensive. In other words, I should wait until my sister is able to be tested. She's currently at the Children's Hospital with Brynlee, and it will be several months before she can return home, where she would be able to have the tests.
In the meantime, the world continues to spin without me knowing if I can have children with my husband, or anyone for that matter.
No comments:
Post a Comment