I am a psychotherapist who has a patient who has been diagnosed with "De George Syndrome". I am looking for information concerning the symptoms and the management as well as prognosis of the syndrome.
|
I am a psychotherapist who has a patient who has been diagnosed with "De George Syndrome". I am looking for information concerning the symptoms and the management as well as prognosis of the syndrome.
Are you spelling it right? There is DiGeorge Syndrome:
DiGeorge syndrome
Genes and disease provides short descriptions of inherited disorders. It is hosted
By the National Center for Biotechnology Information (NCBI),.
DiGeorge syndrome
EMedicine - DiGeorge Syndrome : Article by Iftikhar Hussain
Conditions associated with DiGeorge syndrome are 22q11 deletion syndromes,
Velocardiofacial syndrome (VCFS or Shprintzen.
eMedicine - DiGeorge Syndrome : Article by Iftikhar Hussain
DiGeorge Syndrome
Detailed information on DiGeorge syndrome, including causes, features, diagnosis,
And treatment.
DiGeorge Syndrome
Quote:
Originally Posted by shygrneyzs
Thank you for your prompt response... I have investigated the www.site and the info and I wonder if the mother gave me the correct information. My patient has none of the physical symptoms described... interesting... thanx again.
I did find this post by a member of the Help Desk, about her child who is diagnosed with Degeorge Syndrome:
https://www.askmehelpdesk.com/disabi...eorge+syndrome
I appreciate your guidance. This is a GREAT www.site. I feel fortunate to have stumbled across it.
I have investigated further and read the posts from the others and I believe that my patient's mother has probably been misguided or has misunderstood her child's diagnosis. NONE of the symptoms described appear to be present in the child to whom I am referring.
If I find any information which is in anyway pertinent I will post it asap.
Thank you again.
You are most welcome. If I come across anything else, I will let you know.
My son has this syndrome he has all the heart problems he's deaf in 1 ear he gets obseesed with certain things i.e. doctor who , disney but speaking to other people with this condition he sounds nothing like them this is a very complex condition & quite confusing as there is so much that this conditon entails sometimes people with this condition get mental health problems at puberty like manic depression scitzophrenia etc, please god my son will not have these! I know that if you contacted the discevery team at Dyscovery they could give you some good info on this condition I can't see how they can diagnose this he either has it or hasn't only a blood test to check chromozone 22 can detct this.Quote:
Originally Posted by pkdisme
We had our baby girl checked when she was born and the test came back negative ,she was also born with tetralogy of fallot a rare heart condition ,she has had oh surgery to repair ,all has gone well but it was very hard to deal with.at her last heart check up we told her doc about the signs we were having with her .not talking not paying attention getting attached to certain toys ,mouthing toys a lot .so were going to have her checked again for degeorge again ,her doc said the test we had done 4 years ago may have not been accurate.degeorge syndrome is linked with hearyt defects ,from what I have read .Quote:
Originally Posted by pkdisme
Put me on you buddy list would like to talk more
Our son was diagnosed about 7 years ago, and as others have stated the disease has wide spread problems. We have used Children's Hospital in Philadelphia (CHIP) as our resource. They have a wonderful Genetic Team, many who have published on this.
I wish you and your patient the best, it is a rollar coaster of issues, problems and sleepless nights for parents.
Quote:
Originally Posted by AWC59
What types of problems, our baby girl does nt talk at all she makes noises and laughs sometimes has problems sleeping ,but hat could be the train that's not to far away .she likes to hit and when she gets mad she will bump her head.
Hi,
The not speaking, we went through that. It took two years with a speech therapist. Our son can go almost 48 hours without sleep and still function, then he crashes. Its been like that since he was little. E. would lash out when he was upset, we never had the bumping of the head, but he would rock, and rock to the point we would get dizzy.
We have gone through motor skill problems, he would tip to the left when he walked, sometimes falling over. If you can manage it, make sure that her hearing is tested and if she is old enough her vision. E's hearing was good, but we found his vision was so poor that what we thought was his motor skills getting worse, was that he was not seeing very well. For years he walked on the balls of his feet. Children with this problem also have problems with their red blood counts, sometimes they drop to unhealthy levels. The problem can involve the spleen holding the red blood cells. E. becomes fatigued and you can pick it up right away.
So many things come with this package, and each group is different.
When they did the original test did they also do a physical examination, like measuring her head, the bridge of her nose, the shape of her eyes and the position of her ears. The Doctor that first picked up the problem was a psychologist who specialized in children. The benefit is that he did a rotation at Hershey Med. Ctr in the genetics department and noticed the anomalies just watching our son and speaking with him. Needless to say he pointed us in a different direction away from his field. When they do the test again, question that it is a test specifically for chromosome damage. The test can only be done by specific certified labs, and the results take sometime. We have only one lab in our area and it is within a hospital setting, after that the next place was Philadelphia or New York. I don't if any of this helps, but I will certainly add you to my buddy list. We have been through a lot and maybe something we have encounter will help you and others in this group. Just look at that adorable face you have there with you, they can tell you a lot of things without even talking. Their movements, their fascinations with things, the things they only touch once and will never again. Oh yes, they have an adversion to certain materials and foods. E will not touch or wear material similar to polar fleece, no jello, nothing carbonated. If you watch you will see reactions. Like I said, a whole gambit of things. Let me leave you with this, E is now 17 going into his senior year in high school, plays HS Soccer, the guitar and will be learning to drive soon... are we over it all, never, but there is light when you know what you are dealing with. Not the ADD or ADHD or any of the cover all basis labels. Push ahead until you get a definitive answer from the doctors.
Just wondering how old he is. We have an 11 month old with like not full degeorge. He was born at 33 weeks and has a heart disease. In the future he will have either one or both values to the heart repaired. He had heart surgery back in Jan. so the balloons would not be a waste of time. He had two done before this surgery. He sees the heart dr every few months. We have noticed his hearing is not what it should be. He goes to the ENT dr. this coming week. You can snap your fingers and he really does not respond to it. If he is not facing you or can not see you and you call him does not act on that either. He is behind on many things like sitting up alone, crawling, walking. One thing he does have though is 7 teeth. His sisters didn't have that at this age.Quote:
Originally Posted by bridie butts
| All times are GMT -7. The time now is 05:18 PM. |