chromosome 18q deletion syndrome and nystagmus.

Helen - posted on 06/13/2011 ( 3 moms have responded )

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My 21 month old son has just been diagnosed with a rare chromosome disorder called Chromosome 18q Deletion Syndrome no one knows exactly what this will mean for him in the future but we have been told that he will more then likely suffer with learning, development and speech difficulties and that his nerves don't send messages around his body properly. He also has a high chance of suffering from aggression which he is already showing signs of (unfortunately for his big sister). He has quite a lot of physical symptoms of the disorder including a small jaw, wide nose, thinning of the ear canals and dimples all over his body, as well as having a history of Acid Reflux, Asthma and ear and chest infections.

On top of this he was diagnosed at 9 months old with having Nystagmus (wobbly eyes) and has just been registered as being partially sighted due to this - his vision is currently 6/60 in both eyes and will be monitored closely for his whole life.

There is no cure for either of my sons medical problems although with his eyes operations are available from around 12 years old to adjust his eyes most stable position which is currently the left side of his eyes to a more central location by shortening muscles in his eyes, and ease his head posture that he has developed.

I was just wondering if anyone else is going through this sort of Chromosome disorder or Nystagmus with their child or if they themselves are suffers of either? or if anyone knows of any ways i can help my son with his learning and development at this age to help bring him more in line with his peers.

thanks xxx

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Tabitha - posted on 09/07/2013

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Hey I have just come across your post. My son also has 18q- . He is now nine and in a main stream school though he has a one to one teacher. He is a very emotional child. Always wants to help and I honestly wouldn't have him any other way. He still has difficulty with his speech and is grossly over weight. He has had ti have teeth removed as they wouldn't develop (back ones thank goodness). He has so many friends and any one who meets him falls in lovw with his beautiful nature. I hope now that your son is a bit older that you too are starting to see him develop. I wont lie, it jas been really hars work and we didn't notice any significant differences until he qas five but now he surprises us daily, particularly with his wicked sense of humour.

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Jessica - posted on 09/01/2011

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my daughter was just diagnosed with 18q- about a month ago. We have spent the last year going from dr. to dr. trying to figure out why she was so delayed. we live in SC and got involved with babynet which has allowed us to get her into speech, physical and occupational therapy weekly. She has made great improvements! Started walking about 4 months ago, and has finally started to make improvements with speaking. This is hard since they all say they dont know what the future holds. I just have to have hope that i am doing everything i can to help her. Good luck with everything, I know it can be overwhelming and frustrating at times.

Sarah - posted on 06/14/2011

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I luckily do not have or know anyone with these disorders however as a mother and former nursery nurse i could maybe help with the development side?! I honestly dont know alot about chromosone disorders but any kind of learning developmental delays will always benefit from lots and lots and lots of exercise and freeplay then short amounts structured play creating bounderies that are easily understood but firm and consistant!
You sound as though you are very 'together' and i absolutely commend you, i think people are very unappreciative of the 'norms' in their children and have expectations that everything will be 'normal' (a term i use loosely) but iv worked with so many different children with so many different behaviours and developmental problems i can totally appreciate where you are coming fom! I hope all goes well and you get the information you are looking for! xx xx xx xx xx

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