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.

IS IT KLEEFSTRA OR IS IT ANGELMANS

Ok well I was just making a list on what my son has more of characteristic wise. He has the facial features of having the Kleefstra syndrome and he has most of the signs and I had spoke to a mother that she told me the same thing, tat my son and her son have te same similarities. Then I have spoken to three other people and they told me that in the beginning that there kids were going to get tested for angelmans and one was negative and the other two they decided not to because they found what they had. Now I took notes on the angelmans and he has all of the signs and features of it except for one and that is the heart problem. His heart is fine.

I have emailed my sons first genetics dr and he tells me your son doesn't have the kleefstra because he doesn't have the long narrow face and the eyebrows connected to each other. Then I had an appt with my sns dr and I stood there for two hours and he tells me that the angelman he does have some similarities of having it but not all of it. So I don't think he has it. But I did my research and I can show anyone who does ask me if my son has nearly all of the signs.

What I know is that dr' don't like it when the parents know more then them and that i'm doing the research. If he isn't doing anything about my son then why are you still his dr? I have decided that I'm going to see another genetics dr in St Petersburg next month. I have had it been through this for nearly three years and nothing yet. He tells me that my son is a mystery case. He knows it is a syndrome but he doesn't know what kind. He is only affilated with the autistic kids and the angelmans. But he still doesn't know. Here is his info. My sons first genetics dr.

what is underneath is pat of an email that we both wre going back and forth to, but this is what he said for the last part of the email about having angelmans.


I know a lot about Angelman and happen to be a world authority on this syndrome. He has too many other findings that are not part of this condition such as his facial changes, contracted thumbs and abnormal toenails and other features. He does have some Angelman traits but not enough to strongly suspect the diagnosis.



Sincerely,



Charlie W.



Charles Williams, MD, Professor
Division of Genetics and Metabolism
Department of Pediatrics, Univ. of Florida
Chair, Angelman Syndrome Foundation Scientific Advisory Committee
Office: (352) 294-5050, Fax: 352-392-3051
http://www.peds.ufl.edu/divisions/genetics/faculty/williams.htm

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7/22/2011 HIS PROGRESS

Well I know I haven't updated in a while, but I'm here now. So far my sons progress has been doing so well. He is playing so much. He loves his crib. He rolls over in his crib and he lays on his stomach and looks up. He has a good posture now. Before he didn't. He loves to look at the light. Once the light is on he looks up at the light with amazement. He has been saying mom for a couple of months now. He is trying to sit but can't get it right yet, but he will. He laughs and smiles all the time. I'm trying to teach him how to chew and eat his food. HE doesn't know the concept of using his teeth. I blend his foods. I at least want him to start eating table food and not baby food. He is three years old. Baby food is out for him. He can swallow though. The only problem that he has is putting his fingers in his mouth. If he would stop that habit he can use his hands to bring himself up. He wears his glasses to see more. They made his prescription a little more stronger. He is near sighted. He likes being in his walker. He can walk backwards but he is trying to walk frontwards with it. He is doing so well. Here are some pictures of him.

A MOTHERS SCRAPPING THOUGHTS IMAGES