Sunday, October 24, 2010


I think this one has been a long time coming. I'm very frustrated with some of Joshua's therapists. He has a new OT and so far not so good. His old OT was good but she knew nothing about working on sensory issues with him, she was very nice but we spent a little too much time talking and she wasn't very professional. His new OT isn't doing as much sensory as I had hoped. She had me fill out a sensory questionnaire and I even wrote specific notes about him on it but I'm not sure how much it has helped her working with him. She insisted that he would love a tight fitting suit but he hated it. He does love swinging and we put him in a spandex sheet and swing him and likes that but that's about the only part of her session he likes. Then she tries to work on fine motor with a pound a peg and she wants him to use the hammer to pound the pegs, duh he's not ready for that! I think I need to tell her how I feel, I'm not always good at that. She really got on my nerves Friday when Joshua wasn't feeling well and nothing was helping I suggested a video because I told her he always watches a video at his other OT. So we put the video on and she goes into telling me how bad videos are and that maybe we should use some real objects like the ones in the video while he's watching. When he watches one of his videos he's usually pretty engrossed in it and doesn't pay attention to much else.

I think what's bothering me right now though as much as all of that is that I feel so much pressure and I wonder if parents of other kids who go to therapy feel this way as well, I feel pressure to do the things the therapists want us to do, all the time. I have to admit to not doing as much as I should and certainly not as much as they want me to. I feel like he has to have time to just do whatever he wants to do. A big part of it is I don't know how much it will help him and he fights me on a lot of his therapy. If he doesn't want to do something he's not going to do it. Like walking, if he doesn't want to walk he will just not put weight on his feet, period. It is a waste of my time to try to get him to walk when he doesn't want to which is most of the time. His PT has a special walker that he gets attached to so he can't just sit down, it holds him in it. His walker at home doesn't do that and he hates it and rarely walks in it. This is it

There's also an argument between his OT in Hartsville and his PT who wants him to wear a hand splint which separates his thumb from his other fingers which he apparently likes to hold his thumb in and they don't want him to do that. Now he has the splint and he still tries to put his thumb in his mouth when he's wearing it. The OT was saying that it's only a bandage on the problem.

I personally think that most things as I have seen with Joshua will happen when he is ready. I don't know when and I question pushing him and spending all my time and energy on it when I don't know how well it's working. I think he will get there when he is ready. I know this has been a ramble but I guess what I'm trying to say is that I'm tired of all his therapists wanting us to do so many things me being stuck in the middle. I need to speak out more and tell them but sometimes when I do it falls on deaf ears. I have been signing with him for a long time and he hasn't picked up on it, which is frustrating to me. His early interventionist seems to take whatever the therapists say as gold even when I tell her other things. So moms of kids who go to therapy do you ever have issue with the kids therapists? Do you feel like they ask a lot of you?

Friday, October 8, 2010


Today I finally decided to write letters to the two doctors we have seen who were wrong about Joshua. The one in Greenville I feel like I really put him in his place, where he needed to be. The one in Charleston I just let her know that we chose not to follow the path she tried to put us on. Here they are.

Dear Dr. in Greenville:

You may not remember me, my husband or my son but we saw you in May of this year. It was a brief visit during which you only mentioned the possibility of Autism. I sent you an e-mail and also discussed with you during this visit the possibility of him having sensory issues without being Autistic. You seemed to dismiss this possibility and I know that such a disorder does exist. You have been the only professional to see the possibility of Autism in my son. All other professionals (doctors and therapists) completely disagree with this. He is, however, going to be evaluated for Autism. It turns out that the reason for his developmental delays is a genetic condition that was discovered by a visit to Greenwood Genetics and a blood test, the microarray. It is MECP2 Duplication Syndrome, an x-linked neurodevelopmental disorder. It is possible that with this disorder he can have Autistic like behaviors or symptoms and he does have sensory issues which could be under that umbrella but he does not have any other Autistic behaviors or symptoms. We saw a neurologist this week who was very impressed with Joshua’s eye contact and how social he is. I just wanted to let you know what the status was of our son. I hope you will take into account the possibility of Sensory Integration Disorder as a cause of other children’s behavioral or developmental problems. While those with Autism do have sensory issues it is not required that you must have Autism to have sensory issues, it can stand alone or be associated with something else. We will not be doing ABA therapy with Joshua but will continue with occupational, physical and speech therapy as well as sensory integration therapy and cranial sacral therapy.

Elizabeth Brown

Dear Dr. in Charleston:

You may not remember me, my husband or my son but we came to see you in June of this year. I found you through the Sensory Processing Disorder’s website, listed you as a pediatrician who specialized in sensory disorders. I have to tell you that we were made to wait an hour before we saw you and we were coming from Columbia, I feel that is too long to wait. Your assessment of him was brief but you said you would be in contact with us and all of his therapists. We did get blood work and an eye exam done but I had to make quite a few phone calls to ensure those appointments were made. You never did contact any of my son’s therapists and I was disappointed, I felt that you would help us and I was let down. We have found an OT in Hartsville who has been helping my son with his sensory issues. We did not choose to change his diet though the blood tests said he was allergic/intolerant of some foods. We saw an allergist who said that since he was having no visible reactions to the food that he did not think we needed to worry about it. I feel that we have so much to worry about with our son as it is that a drastic change in his diet would be too much for all of us to deal with. We have found out that our son has a genetic condition, MECP2 Duplication Syndrome. It is a x-linked neurodevelopmental disorder. So it turns out that his delays are not caused by food but by this disorder and no one that we have spoken with has thought that changing his diet would help. We are continuing with all of his therapies; occupational, physical and speech and have added sensory integration and cranial sacral therapies as well. We saw a neurologist this week who was very impressed with our son’s eye contact and how social he is. We are having him evaluated for Autism, with his disorder Autistic behaviors and symptoms are possible but we are only seeing the sensory issues. I just wanted to update you on him.

Elizabeth Brown

Wednesday, October 6, 2010

Good Neurology Appt.!

This morning was our first visit with the pediatric neurologist. He was very positive about Joshua!! He said a lot of what I had already heard from the genetic counselor, that we can't predict what Joshua's future will be, it is a variable condition but that Joshua was doing really well!! He said it was great that he was social and makes eye contact, he said it multiple times so it must be very good!! He has some patients with Joshua's condition and he is doing much better than they are. He said it's thought that sometimes we have protective genes so even though he has this condition he may have other genes which are protecting him or something like that. He did mention quite a lot that there is possibility for seizure but even if he has one it's highly unlikely that they would cause brain damage. He also told us about the possibility of regression with his disorder so we would be aware. He gave us the option of coming back in or not and we decided we would call if we had questions but for now we will only come in as needed. He said we should keep up the good work with all the therapy, that we were doing a great job! He said we could do an MRI but he didn't see the need unless he was having seizures or regression. Overall very pleased with the appt. and the neurologist! He said that the geneticist did all the work so now we have an answer and for now there's no cure or treatment except for what we're already doing. He also said that his sensory issues probably stem from his condition.

Monday, October 4, 2010

New Diagnosis

Last week we spent the week on vacation in the beautiful Smokey Mountains. We stayed a resort in Gatlinburg, TN, in a gorgeous location. We went to the aquarium which Joshua loved, we went to a little zoo and traveled all over the area seeing the sights, it was wonderful and we can't wait to go back next year. Here's a link to our vacation album

It had been a few weeks since we had seen the geneticist and gotten ourselves tested for myotonic dystrophy and we were still waiting on the results from that and from Joshua's other tests. While we were on vacation the results came in and I had two messages waiting for me from the genetic counselor. I called her back on Friday and left her a message but I found out this morning she was in a conference on Friday so I was left wondering all weekend what the results were, not fun.

This morning I called and left her another message, this time she called me back. Apparently my husband tested negative for myotonic dystrophy or I should say that his numbers were too low for him to test positive. I, on the other hand, tested positive just barely high enough to be considered positive yet I've had no symptoms of the disorder and I pray I never will.

The bigger news was that I was probably right that it was not the myotonic dystrophy causing Joshua's delays. Joshua's other genetic test came back positive for something else, MECP2 Duplication Syndrome. I don't know a lot about it, I have chosen at this time not to research it like crazy and scare myself with all the possibilities (the genetic counselor warned me that most of the information about it is negative). What I do know is that it is a x-linked neurodevelopmental disorder. Joshua only tested positive on one of the two genes that this disorder is linked to and that's good. Something else that's good is that 75% of kids have recurrent infections from birth and Joshua has not, 50% have seizures and Joshua doesn't. She said that his case is not textbook and that is good. She said he will still show us what he can do, it's a variable disorder. I'm not going to let this define him. If you want to look it up take the information with a grain of salt (that's what she told me to do).