Tuesday, August 24, 2010

Genetics continued

I was just reading the printout that we got today from the geneticist and wanted to add a little information about myotonic dystrophy. Joshua has type 1 which is a multisystem disorder that affects all systems but he has mild which only says it affects the eyes and includes mild myotonia (sustained muscle contraction). Classic and congenital affect other systems of the body it appears that Joshua will not have to worry about that although they may do an occasional ECG. The best part is that it says life span is normal! Individuals with mild DM1 may have only cataract, mild myotonia or diabetes. They may have fully active lives and a normal or minimally shortened life span.


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.

Thursday, August 5, 2010

Sensational Kids

An excerpt of a sample letter from the book Sensational Kids.

Dear Grandma and Grandpa:

I have heard that we will be staying with you again for Christmas this year! I know you have noticed that visits away from home are very hard for me, so I decided to write you and give you some ideas for making my time with you a lot better than it was last year.

I know Mom has told you about my "hidden handicap" called Sensory Processing Disorder. SPD is a neurodevelopmental disorder that affects my brain and makes it different than others.SPD is a complicated disorder and research is only starting to come out about it.

The best thing you can do is don't judge my parent's efforts. Everyone is always giving them advice about me- like they know better how to handle me than Mom and Dad. But nobody else lives with me, and it's really hard on my parents when people who don't live with me try to tell them how to do it. They know you have the best intentions but, honestly, we have been through so much already and they are so familiar with me and my needs. I know they are human, but sometimes I think they must be angels. They are such great people and they need your support.

It might sound like I'm asking you to change yourself, but I'm really not. I just want to ask you to be patient with me and understanding with my parents. I am trying hard to cope with everything, and they're doing their best to help me.

Do you think you see the world now a little bit like I do? That's what I hope. I am just me. I am like you in lots of ways and I'm different in other ways. There will be a place for me in the world, and I plan to do great things when I grow up. But in the meantime, at this family celebration, we'll all have a better time if you can take the time to imagine how I feel, to realize that I want to be "good" and participate, and I am doing the best I can!

See you soon!

Wednesday, August 4, 2010

A blog I've been following prefaced a post with an honesty alert, well I think I should do the same. My blog is usually just about big things going on in our lives. I don't go into much detail about the day to day and I certainly don't talk about me or my emotions. Well, I think it's time for a change. Not that I will be doing it all that often but events lately have got me in a mood.

I've been feeling rather blah lately, maybe more than lately. Ever since Joshua started early intervention my life hasn't been exactly peaches and cream. First it was just physical therapy, now we're doing speech and occupational. I have really been feeling like I need to be doing more. I am hoping that we are on the right track with the OT we found in Hartsville who we will be traveling the 2.5 hours round trip to see once a week for now. He is also on a waiting list for Total Rehab SC to go there for OT but it will be at least October before that happens. There are other similar places I have called but they all have waiting lists at least as long and this one is the closest to our house. In the meantime he will be getting a new OT who has some sensory experience but that will be a few weeks. I have called OTs who are experienced in sensory and none are available right now, apparently they're in very high demand in my area. Basically an OT usually works on fine motor but we need one who will also address Joshua's sensory issues.

For a long time I felt like we were in a holding pattern, I didn't know what else to do, I was so frustrated. Since Joshua started early intervention it has pretty much been my life, I handle most of it so my husband can do what keeps him just as busy, his business. Joshua is my own little business. I read books and do research on the internet about what else we can do for him. Then I try things out with him. The OT has us working on improving his grip and of course we're trying to get him to walk. Joshua is very, very stubborn. If he does not want to do something you can stand on your head and he still won't do it. The PT wants him to use his walker but if he doesn't want to he won't stand up and I can't make him. Same with any other type of therapy. I want him to pull the rings off his ring stacker but if he doesn't want to he won't do it, he knows I want him to do it so he goes to play with something else. It's frustrating and heart breaking. I want nothing more than for him to do the things other kids his age do but what more can I do? That's what I am always asking myself, what else can I do? I would do anything for him.