Genetics

Last week I got a call from the genetic counselor at Greenwood Genetics where we had our appt. last month. They ran a test for myotonic dystrophy. The results came back abnormal meaning positive for it. Normal is 3-34, borderline is 35-49, Joshua's result on one of the genes for it was 12 on another it was 55 which is a positive result. There is good news in that he definitely has a mild case. The numbers continue to go up, into the thousands so Joshua's is barely positive. Other good news is that it is a very slow progressing disease and also highly variable so he may not have too many issues with it. There are lots of possibilities but most are for adults as it is usually adult onset but he has child onset. Most of the health issues are things to be monitored as he gets older but for now we will have his eyes checked yearly as there is a risk for cataracts, that is it though for now.

It may or may not be responsible for all of Joshua's delays. It can affect all areas of his development and the geneticist said even some of his sensory issues so he may or may not have sensory processing disorder, there is really no way to tell and the therapy we would do is the same so we will continue doing what we are doing. One thing that both the geneticist and the genetic counselor said is that Joshua will show us what he can and will do, that we should not underestimate him at all.

So for now no changes to his therapy. We are still going to Hartsville once a week for cranial sacral therapy. Joshua's OT at home will be doing sensory integration therapy with him starting this week. So we are doing all that we can be doing.