10/10/2013-Joshua's update

Joshua has been doing very well. About two days before school started, which was August 17th 2013 he was laughing and pushing himself up. I was laughing too. The kids were all there watching him. He was so determined to get up. He pushed himself up so hard that he sat up for a couple of seconds and fell down. Luckily I was right behind him. I couldn't record it though. I was proud of him that I cried almost all day.

His genetics counselor Troy called a couple of weeks ago telling me that the Mitochondria 2nd test came back with something about the aptx gene. So they decided to take a gene testing. It has come back already but have to wait until the genetics counselor to come back from vacation to get called. So we are getting somewhere. I can't wait until next week. So I will be discharging him from the shands genetics Dr. Williams. Since he wasn't really doing anything.

He is doing very well in school. He is in Marion Oaks Elementary School. He has his therapies too. He is doing a whole lot more here then he was at Ppec. They have told me well if it doesn't work out in school make sure you bring him back. Hell no I'm not. They don't do nothing for him. They don't want him to progress. Well he is now.

Joshua's Genetics and Neurology appt

OK I know I haven't updated Joshua's story lately. There wasn't anything to update yet. But now there is. Ok May 8th Joshua had an appt to see genetics in St Petersburg. Dr Crenshaw decided to take another test which is the second part of the mitochondria testing. I spoke to her about the cdkl5. She said well lets see what happens with the results about this testing and once you see Neurology if she decided to say that it is the cdkl5 she will make an appt to take the test. The person who took the test was great one poke and she was done. Then the good news is that they took two tubes of blood. One for the test and the other to bank it. Which means if they need more blood from him to take that test then they don't have to poke him again. They can use that one.

May 28th 2013. His Neurology Dr. She is his new dr from now on. The one near us in no longer his dr. They discharged him. I gave her all of his paper work. She copied all of them. She looked on one of the genetics paper from st petersburg and she said I see here that you may think it is cdkl5. So tell me about that. So I told her that he has all of the symptoms. Except for two of them. And she said she agrees with me. She wants an updated eeg and mri. and he is getting blood drawn. Then she wants my husband and I to take a genetics testing. Which is the whole exome sequencing test to see which side is it coming from.

I thank the lord that these two doctors are actually doing something to help my son. these dr's that are closer to me isn't doing anything cause he doesn't know what is going on. He doesn't want to test my son for anything. How are you not going to know if you don't take the test? Once it comes out positive for cdkl5 I will go see Dr Williams and tell him that he is positive for it. He is also shock that I know more then he does.

Marion Oaks Elementary School

Well Joshua is now about to start public school. He has been in Ppec for three years. I wasn't to happy with them for a while. They don't listen to me when I kept on telling them not to put tape on his stomach. They kept on putting the tight gloves on him cause he always put his hands in his mouth. But he only put one finger but like I said they didn't listen. They kept on putting different diapers on him knowing that I had diapers there. They always had him on his chair most of them time. It was like a daycare for him. Yes he did some therapies on him but a lot where he can do things on his own. So thats why he is going to public school. The manager there Linda Lied to me. Last year when he was three years old he could of have started pre-k. But when I filled out the paperwork she told me that they lost it. For a whole years? Come on now. So she told me when he starts school tell them he will be staying here. I wondered why she told me that. Thats a no no in my book. So the process finally went through. It took a while but it is in and finally I went to the meeting that also took for ever. He could of started last month. But they kept on cancelling the meeting. So now the meeting went very well. It took about an hour and half. I met his ese teacher and his next years teacher for kindergarden. and the nurse and two other ladies. They all were great. He should be starting by next week. I have to send some papers to guidance once I am done. I can't wait to see him go. The first day of school I ahve to take him so I can teach them on how to feed him. And stay there for a while to see how they do things and see the special needs children wings. It is further but it will fit his needs. I will be posting pics of him here soon when he starts.

HAMPTON OAKS OPTICAL CENTER

Well on 01/10/2013 my son Joshua had a eye appt. It has been two years that he was seen. The dr he saw wasn't the dr he always sees. I really wasn't happy on what she said. She wanted to know why his other dr gave my son those prescriptions. He was -8.00 and -8.50. Lets say that he wasn't still seeing very well with those. So he is really near sighted. They had to double it to -18.00. That isn't good at all. I won't get his new glasses until next week. I thought he can see me every time I come into the room.

Joshua's Milestones

Joshua now since he was younger he couldn't anything really. He is now 4 years old now and he can do alot. I would like to see his dr that told me that he wasn't going to do anything in his life. Right now he can play around and he can roll over and do a 360 in his bed or on the floor. He loves to play all the time. He can say mom. He sounds like he wants to say dad too but can't quit hear him clearly. He pushes himself in his walker backwards and forwards. He is like a kangaroo too. He likes to jump up and down in the walker or when you put him on the floor to see if he can walk, he goes up and down. When I take him out of the carseat I say "up, up, up". So he knows that mean that I am going to take him out. He pushes his body up and out of the chair. Whn he is on the highchair and I am feeding him, he again jumps and he halfway comes out of the chair. I had to grab him fast before he fell out. My son Joshua sleeps in different times. When he comes home from ppec, which is a place for him to get therapy and they take care of him, he plays for a little while and then goes to take a nap for a couple of minutes or if not taking a nap he sleeps until about midnight to 2in the morning and plays all morning. I put the tv on for him and he watches it. He likes the colors. He follows the cartoons where ever they go. Just like the light. I put a flashlight near his eyes and go back and forth and he follows it. He has eaten while abck with no problem, but now he hasn't eaten anything. He doesn't want anything in his mouth. I tried to put food in his mouth and most of the time he will keep his mouth shut. I really want the gtube off. But the only way that they will take it off is if he can eat by mouth for three months without putting anything in his gtube. August 28th he went to go see his surgeon about his gtube. He had to change it. This is about his 7th time changing it within 3 years. He broke a couple of them. But I have spoken to his GI dr and he told me that if he doesn't eat by mouth within another month then they are going to have to put a tube down his mouth to see what is going on in there. But I don't think it's his stomach. I wish I knew what it is. The other thing that he has done is break his kitty kart a couple of times. His strength has approved. From weak to being so strong. HE broke his headrest and the foot rest. He kept on kicking the footrest and the headrest and he broke it. His thereapist looked at me and said what are you giving him? WHeaties?!. I said no he just got stronger. When they gave him another new one within two weeks he broke that one too. I am so proud of my boy.

FEVERS

Ok last month he ended up in the hospital because he had a high fever of 103. Found out that he had a pink eye and a ear infection. He was on antibiotics. It took a while for the medicine to work but it finally kicked in. Then the next day he had diarrhea. Boy lets just say that he had the virus. I had to give him a bath 4 times that day. Now he is has another fever. It isn't high like before but it is still a fever. I lost my thermometer. I don't know how, but I usually leave it in his room in his draw. I need a good one that doesn't go bad. I had a friend that her child had the ear infections and ended up with tubes in his ear. That willnever happen to my son. Last year he only had about three ear infections in one year. If this becomes an ear infection again this will be two, but in two months and that isn't good.

FEEDING EVALUATION

Today I have went to take my son to his first appt in the new year. Which is the feeding evaluation. He hasn't really eaten and swallowed anything for the past couple of months. When I got there I had a to wait a few minutes. Then she finally called me in. She asked me what has been going on? So I told her what happened since he was 5 months old. Everything that has happened. So she said he has been through alot huh? and so have you too. I said yes. so I told her every time I put food in his mouth he leaves it there. He doesn't chew or swallow it. So she decided to try some things on him. she gave him baby food, grape lollipop, laffy taffy candy. It was for different types of foods like sweet, sour, and some other things. Of course he is going to like the lollipop. She knew off the back that what problem he has. She told me that he has ore jaw movement them tongue and mouth. Since he is low tone his mouth will be too. So what we all ahve to do is strenghten his mouth muscles and show him ways of moving his mouth and so he can start eating. He was already in a cranky mood because he has been grinding his teeth He cries when he does that. Why? I don't know. So he will be going once or twice a week.