Nearly a year after first meeting Dr. Yang and the genetics counselors, he feels comfortable making a clinical diagnosis. I’ll spare you the two hours of chit chat I just had to suffer through before hearing the diagnosis. They’re calling it Dubowitz syndrome. Or “Dubowitz-like syndrome,” since they don’t exactly know which gene causes the syndrome, and the thing is so rare, they don’t have a ton of published cases to work with.
They took blood to look at a gene called LIG4. It’s the only gene they know to be associated with Dubowitz syndrome. The test will take 3-4 weeks. I’m surprised at how anxious I am to hear those results. Dr. Yang doesn’t expect there to be any mutation in this gene, especially since Evelyn doesn’t show a lot of the classic symptoms: mental retardation, eczema, immune system deficiencies. Since LIG4 is a DNA repair gene, mutation can cause radiation sensitivity. I’m hoping this isn’t the case with Evelyn. She’s already had dozens of chest X-rays.
The diagnosis is overwhelming.
I’m glad that this new baby boy is the last biological baby we plan to have. Dubowitz is thought to be a recessive genetic disorder, so baby boy has a 25% chance of also receiving both Thane’s and my mutated mystery gene. I’d rather not knowingly risk this with another child. I guess it’s good timing to find this out now. We had always wanted to have 4 biological kids and then adopt one or two kids. Something to thank God for!
Please pray for our nerves these next few weeks while we wait for the results of the LIG4 test. And then for what that means for Evelyn.
I keep thinking “this” will be “over” if I wait long enough. But I’m still accepting that “this” is just our life. It’s not exactly the life I had planned, but whose is? This is getting older. This is the real adulting.