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- Member
Sat Dec 29, 2007 3:16 pm
My name is Marion. I am single Mum of 3 children aged 4, 6 and 7.
My eldest daughter has a rare chromosome disorder - she has ring 21 but also trisomy 21 - so although diagnosed with Downs Syndrome - because of the deleted information in her ring chromosome (which is not the duplicated chromosome) she doesnt look like Downs Syndrome, - however she does have a lot of problems the same and some not.
She has lots of medical needs and I dont often get to discuss them outside of appointments as I dont know anyone with similar to her disabilities - She is now at the mental age of 4 and still in nappies she is also lactose intolerant and has very severe epilepsy - is partially blind in her left eye and has hypotonic muscles. She also has autistic tendancies and does not sleep very well. She has been suffering with seizures all her life and an eeg showed that she has in the region of 100 seizures a day. Currently they are lessened with medication but yet again they are changing this as they are still occuring and specifically a lot of absences... on the up side of things - Sophie has developed a natural ability musically and creatively.
She is the kind of child who is accepted by everyone - she is so lucky how popular she is and this carries her through along with her contentment and I am so proud to be her parent, even though she has a lot of care needs.
So onto my son who is 6 who has recently been diagnosed with ADD - and his paediatrician is also looking at a diagnosis of Higher level Functioning Aspergers syndrome, he also was diagnosed with ring 21 and perceptive evasion syndrome. I have had a struggle with my son to get diagnosis and also help for him as he has such poor social skills and sometimes he can get me down with his negativity - although he doesnt realise sometimes what he is saying - it can be very hard to hear your 6 year old saying that everything is their fault and that they want to die. He now gets Action plus at school and also see's a play therapist and has 'nurture sessions' at school. So it's lovely when he comes out with a sentence like 'you're such a kind girl mummy' - some of his habits are hard work when he lines things up constantly and shouts a lot. Lucky for me that on the positive side of things he has an almost perfect memory for details (like when it comes to watching a film) and is brilliant with numbers and when he is getting attention he can be the most loving child, typically known as a real mummy's boy.
And although I have two children who both have disabilities my youngest who appears to be problem free - well lets just say understandably, she is constantly fighting for attention and is a little challenge all on her own. But very understanding to her siblings.
I came to this site as I was hoping I may be able to get some support/advice and possibly to communicate with other carers of children with rare chromosome disorders or similar to my own children's disabilities.
My eldest daughter has a rare chromosome disorder - she has ring 21 but also trisomy 21 - so although diagnosed with Downs Syndrome - because of the deleted information in her ring chromosome (which is not the duplicated chromosome) she doesnt look like Downs Syndrome, - however she does have a lot of problems the same and some not.
She has lots of medical needs and I dont often get to discuss them outside of appointments as I dont know anyone with similar to her disabilities - She is now at the mental age of 4 and still in nappies she is also lactose intolerant and has very severe epilepsy - is partially blind in her left eye and has hypotonic muscles. She also has autistic tendancies and does not sleep very well. She has been suffering with seizures all her life and an eeg showed that she has in the region of 100 seizures a day. Currently they are lessened with medication but yet again they are changing this as they are still occuring and specifically a lot of absences... on the up side of things - Sophie has developed a natural ability musically and creatively.
She is the kind of child who is accepted by everyone - she is so lucky how popular she is and this carries her through along with her contentment and I am so proud to be her parent, even though she has a lot of care needs.
So onto my son who is 6 who has recently been diagnosed with ADD - and his paediatrician is also looking at a diagnosis of Higher level Functioning Aspergers syndrome, he also was diagnosed with ring 21 and perceptive evasion syndrome. I have had a struggle with my son to get diagnosis and also help for him as he has such poor social skills and sometimes he can get me down with his negativity - although he doesnt realise sometimes what he is saying - it can be very hard to hear your 6 year old saying that everything is their fault and that they want to die. He now gets Action plus at school and also see's a play therapist and has 'nurture sessions' at school. So it's lovely when he comes out with a sentence like 'you're such a kind girl mummy' - some of his habits are hard work when he lines things up constantly and shouts a lot. Lucky for me that on the positive side of things he has an almost perfect memory for details (like when it comes to watching a film) and is brilliant with numbers and when he is getting attention he can be the most loving child, typically known as a real mummy's boy.
And although I have two children who both have disabilities my youngest who appears to be problem free - well lets just say understandably, she is constantly fighting for attention and is a little challenge all on her own. But very understanding to her siblings.
I came to this site as I was hoping I may be able to get some support/advice and possibly to communicate with other carers of children with rare chromosome disorders or similar to my own children's disabilities.
