my son has a genetic syndrome

Charlotte - posted on 01/15/2009 ( 11 moms have responded )

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hello am charlotte



i have a 20mth old who has a genetic syndrome not sure what it is as yet still having tests dun, and thats driving me mad, no 1 would listen 2 me when he was born when i said there was sumthing rong just by looking at him. he looks great now but he has delayed development and several features around his body that arnt quiet rite and inside him aswell like his enlarged ventricles by his brain and an enlarged kidney hopefully have sum results by the time he turns 2 in may. any have the same problem. not bin on the circle of mums 4 long but its great.

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Rosa - posted on 04/23/2009

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hello my daughter cassy was born with a genetic disorder called feingold syndrome it is rare and its haed to diagnose it comes with mental and or physical dissabilities, cassy has cognitive and learning problems,odd,speach delays cassy also has web toes on her baby toe on both feet, very small stature, and only weighs 56 pounds at 9 years old.there is not much info on this so i dont know how to deal with this when i dont know what to expect as she gets older.its getting harder she needs help with basic everyday things because she forgets.she wont die from this but she will have a learning disibility for the rest of her life and someday when or if she has her own children they have a 50% chance of having it.

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Irene - posted on 06/08/2011

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Hi everyone. My name is Irene, I'm 24yrs old && a SAHM with 2 wonderful Kids with my High School sweetheart lol. My son is 5yrs old, he will b starting kindergarten in a couple mths! Hes so excited to get back to school! My daughter will b turning 3 in Sept, She was 5mths old when she was diagnosed with Williams Syndrome. She had a heart murmur which the Dr thought was supposed to disappear after a couple weeks, when it didn't she was referred to a Pediatric Cardiologist, who then referred us to a Geneticist with the suspicion of WS. She was diagnosed with WS, which I had no clue what it was, in fact there are many ppl who have never heard of this syndrome before. I now know a lil more about it, she's getting PT, OT && Speech, && I've been noticing that her delays are Improving SO much! Ummm....If anyone has any questions about what Williams Syndrome is, I can answer any questions to the best of my knowledge :)

Michelle - posted on 05/18/2009

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My daughter will be 3 in September and we just found out a few months ago that she has partial deletion of Chromosome 17.

Joanne - posted on 04/30/2009

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Hi im jo

you little boy is beautiful my son is 3 in august and he has a genetic condition his is still undergoing tests he has global developmental delay a visual impairment and an enlarged liver they have been doing tests on adrian since he was approx 4 months old and still they have come up with nothing so please dont get your hopes up just for them to tell you they havent pin pointed the problem yet

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hi charlotte my name is mand i live in queensland australia my son was bourn 10th of march 2008 he is now 14 months he was born with a few properlams in side and out looking at him he looks normal we have 2 older childen both were healthy but max was not so lucky he has had to opperations both befor his first birthday and the last 14 months have had appointment after appointment we went to genitics doctors at 8 weeks of age and we are waiting for a 12 month reviwe to see were he is at thay think it is a genitic disorder called opitz syndrome it is rare cant find much support on it but i read you post and i felt for you it good to know we are not alone i know doctors brush you offf but one thing i have relized you know you baby best just keep getting defferent oppionins thank you for listening manda

Jennifer - posted on 04/27/2009

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My son is now 10 yo and has a syndrome called Saethre Chotzen.. It is a craniosynostosis syndrome. It has been a lot of work advocating for his needs. Good luck on your venture to helping your son!!

Trish - posted on 04/26/2009

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My son was born with Non-Ketotic hyperglycinemia. he sadly passed away in 2002 aged 2. I really hope that you get answers soon. Good for you for continuing to push for answers for your son. Just remember that you have to be a very special mom to get a special child. Enjoy him as much as you can.

Katie - posted on 04/25/2009

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hi there i was just reading what u have put and my son has an enlarged kidney and he is going to have it opperated on it soon! My son has di george syndrome and this is a genetic syndrome cause i have it aswell! We have just found out about it last summer and he has had all the tests! It does sound quite similar! hope this has been helpfull for you, from katie

Martha - posted on 04/24/2009

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Hi Charlotte,

My son is 7 years old with Developmntal Delay. I knew as soon as he was born that something wasn't quite right. I have 2 older boys so I could tell that. Luckily I delivered in a University Children's Hospital and they told me then that it appeared he had a genetic condition. We have been doing different genetic testing since he was born and the tests have always come back as normal. He is definately delayed, he is only now starting to use the few word that he has in sentences. He is a very sweet boy with a great temperment so I am lucky there.

I can give you this advice. Don't beat yourself up if you do not get a "formal" diagnosis. You know your child so look have them put a plan in place that will meet his needs. I came to the realization that my son would need different therapys whether or not we had a diagnosis.

My son is doing really well in school now and has come a long way. Even though 7 years later we don't have a diagnosis.

It is a hard road but when we look at them we know it is worth it!

[deleted account]

hello my son just turned 1 on the 10th of march and we were told he has a genetic syndrome and its likely to be opitz there is no testing in australia so there for we have to wait we should know more wean we go back to genetics doctor in a couple of months he has already had 2 surgurys so far fingers crossed he needs no more but he is such a happy little boy and so strong his nick name is super max or miricale max

Dawn - posted on 03/28/2009

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hello my daughter jade was born with genetic syndrom we didnt know that before she was born sadly she passed away in 2001 aged 11 .hope you get results soon keep in touch its not the end off the world to have a special child.i enjoyed jade everday hard work but worth it



 

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