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

TAGS MADE FOR MY BLOG

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

THE DOCTORS DON'T KNOW ANYTHING

OK NOW I AM GOING TO TELL YOU ABOUT WHAT HAS BEEN HAPPENING FOR THE PAST COUPLE OF MONTHS. I HAVE BEEN CALLING AND CALLING JOSHUA'S GEENTIC DOCTORS. I HAVE SPOKEN TO HIS ASST. I HAVE TOLD HER THAT I HAVE BEEN LOOKING IN BOOKS AND IN TH INTERENET ABOUT MY SONS CHARACTERISTICS AND THINGS THAT HE HAS BEEN DOING. I THOUGHT IT COULD BE THE PRADER WILLIE SUNDROME AND SHE TELLS ME NO WE THOUGHT THAT TOO BUT IT CAME OUT FINE. SO I ASLO TOLD HER THAT CAN'T THEY DO A FISHING TEST, MAYBE THEY CAN FIND SOMETHING THAT HE MAY BE MISSING A CHROMOSOME. SHE TELLS ME WELL THE CGH TESTING THAT THEY DID TELLS THEM IF HE IS OR NOT MISSING ANYTHING OR IF HE HAS ANY SYNDROMES. WHAT GOT ME MAD WAS THAT SHE TELLS ME THAT I AM THE ONLY PAENT THAT CALLS ABOUT THERE CHILD. WELL LET ME SEE NOW, IF YOU HAVE A CHILD THAT HAS PROBLEMS AND THE DOCTORS WON'T GIVE YOU ANY ANSWERS YOU WILL KEEP ON CALLING AND ASKING MORE QUESTIONS RIGHT?

SO WHAT I DID WAS I TOOK HIM TO ANOTHER GENETICS PLACE, CALLED ALL CHILDRENS HOSPITAL. HE GOES TO THE OUTPATIENT CARE. IT'S A CLINIC. HE WENT THERE FOR THE RENAL DOCTOR AND TOLD ME THAT I HAVE TO WATCH IT AND HE GAVE ME MORE ANSWERS ON HIS KIDNEY. HE CAN PEE NOT ENOUGH LIKE HE IS SUPPOSED TO. BUT THE GNETICS THAT JOSHUA IS SEEING ASKED ALL THE QUESTIONS AND I GAVE HIMA LL THE ANSWERS. THEY DECIDED TO TAKE SOME BLOOD FROM HIM FOR METABOLIC DISORDERS. IF EVERYTHING IS FINE THEY WANT TO TAKE A MUSCLE BIOSPY TO SEE WHY HE IS LOW TONE. AS LONG AS THEY DON'T GIVE UP AND TAKE TESTS ON HIM AND I'M GETTING MORE ANSWERS THEN I AM FINE.

MY SON HAS PROGRESSED SINCE LAST YEAR. HE STARTED WALKING IN HIS WALKER BACKWARDS. HE IS GETTING MORE STRENGTH ON HIS LEGS. HE IS GETTING HEAD STRENGH TOO. HE CAN HOLD HIS HEAD UP MORE THEN EVER. HE IS GRABBING HIS BLANKETS, HE GRABS HIS PACIFIER AND HOLDS IT. I'M TRYING TO MAKE HIM HOLD HIS BABY COOKIE INSTEAD OF PUTTING HIS HANDS IN HIS MOUTH. THATS THE ONLY PROBLEM THAT WE HAVE IS THATBOTH OF HIS HANDS GO INTO HIS MOUTH. IT LIKE SOOTHS HIM. BUT IF HE WOULD STOP THEN HE CAN DO MORE THINGS.

WELL THANK YOU SO MUCH FR READINGMY SONS STORIES. IF YOU HAVE ANY QUESTIONS PLEASE FEEL FREE TO ASK ME ANYTHING.

This is what I found out 07/18/2010

Well since my last post, I found out some other things. My sons seizures has died down. I haven't seen anything ina bout 4 months. Now that is too good. Now One day I told myself not to give up and keep on trying to find out about Joshua. So I looked online on genetics disorders and birth defects. There was one article that tells about my pregnancy. I had too much amnitioc fluid and he wasn't moving alot in my belly. And things happen after a couple of months that appears not after birth. It happens a while after birth. He has a diamond shaped eyes, He has a high narrow head, and he he is developmetnal delayed etc. It all comes out to be the prader willi syndrome. Even though I don't want to admit it that he does have something. Now, the dr's from genetics and his neurologist told me that they took a chromosome testing of the syndromes on what i told you and they said it came out negative. They thought the same thing. so if they took that testing of the prader willi syndrome then what can it be? noone still doesn't know. To me it is good in a way, because He is my son and you know when it comes out that it is your son you don't want to label him or her as a syndrome right?

Also I am going a little crazy here becasue I am still not working and I hear about work from home moms and I can't find any good sites on it. How do I know that it is legitate? If anyone does read this please contact me? Thank you.

Cheryl 'Pepsii' Riley - Thanks For My Child