So it was blood test day today. I wasnt able to go with him as it was at 9 in the morning and I needed to get the girls to school. His dad took him instead.
They took a load of blood for testing and are confused as to why he didnt bleed once they had finished doing the blood test. They are finding his bloods very confusing as some things dont add up like they think.
I think its going to be another long couple of weeks whilst we wait for the results back from these tests. Just hope that it turns out to be something very simple.
The not knowing is always the most worrying part of all this. I HATE it. The worst things always go through my mind and no matter how hard I try I just cant shake the dread feeling.
He's such a good boy though, he never lets these things get to him and is soooo well behaved whilst they do them.
Fingers crossed that it all just turns out to be the simplest form of Von Willebrands.
Friday 25 November 2011
Monday 21 November 2011
Hospital on Friday
We have a hospital appointment for Jack on Friday. This is the part that I dread with him, it feels so cruel when we have to take him for blood tests.
He is having the test to distinguish which type of Von Willebrands disease he has. None of the types are going to particularly change his life. Its just going to mean that if he needs any type of surgery in the future he will need different medications to stop him bleeding out.
I will feel ever so relieved once this test is over as we can then be given a card to carry around with us. It does worry us at times because he can be so covered in bruises that he looks like he has been hit :(
He's my little peach :)
Will let you know how we get on with the appointment.
He is having the test to distinguish which type of Von Willebrands disease he has. None of the types are going to particularly change his life. Its just going to mean that if he needs any type of surgery in the future he will need different medications to stop him bleeding out.
I will feel ever so relieved once this test is over as we can then be given a card to carry around with us. It does worry us at times because he can be so covered in bruises that he looks like he has been hit :(
He's my little peach :)
Will let you know how we get on with the appointment.
Proud Proud Proud
Hi all,
Thank you for checking in with us. Just a quickie for now to tell you all how PROUD I am of Jack. Everyday he seems to learn something new and even though its only little steps in the bigger picture, its mountainous steps for Jack.
Today he wanted some sweets when he came home from nursery and he said...............................please :)
How fabulous that even though he has such little speech he still has really beautiful manners!
Thank you for checking in with us. Just a quickie for now to tell you all how PROUD I am of Jack. Everyday he seems to learn something new and even though its only little steps in the bigger picture, its mountainous steps for Jack.
Today he wanted some sweets when he came home from nursery and he said...............................please :)
How fabulous that even though he has such little speech he still has really beautiful manners!
Sunday 20 November 2011
Jack at nursery
Hi all,
Just thought I would take a moment to tell you a little bit about Jacks nursery and how we came to get him into a resourced one.
Jack was refered to a scheme called portage through our health visitor. They came out to our home and played with him so they could build up a picture of what sort of area he was at with his learning. Before we had been diagnosed with Mosaic Monosomy 21, we had applied for him to go to the mainstream nursery attached to the girls school. We went to have a look round and immediately I knew that I wouldnt be happy with Jack attending there. Its a lovely nursery but very small and there didnt seem to be the support there that I knew Jack would need. Sadly because we didnt yet have the diagnosis this didnt qualify him for a resourced nursery (silly way it works I know!)
I told our portage worker of my worries and concerns about Jack and she mentioned the nursery that he attends now.
Once we had his diagnosis come through and with a clearer picture built up of his needs we were able to go and view the nursery and wait for the educational psychologist to come and see him. The minute we walked through the doors we knew that he would be so happy to attend there. All the children looked happy and there was lot of staff who were all exceptionally friendly. The facilities just blew us away.
When the educational psychologist had been to see Jack and said that she thought he would be better with a place there we were relieved. When the letter came to say that he had been accepted there it truly was a load off our minds.
He was due to start at the beginning of September but we left it for an extra week as we had just welcomed little Bonnie to the family and he had a little bit of a tough time adjusting. We didnt want him to feel like we had replaced him with Bonnie and then shoved him out to nursery.
He has settled so well into nursery life and the progress he has made even in the little time he has been there, has astounded us. We cant even begin to put into words how proud we are of him and how grateful we are to all the staff that work with him. I had begun to feel like he would never learn how to talk and now he is coming out with new words its just a really special feeling. Hes a trooper and never lets himself become frustrated and is learning everyday how to communicate with people around him.
I will definately be sad to say goodbye to the staff at his nursery, even though its a long time off yet!!
This is a pic of Jack on his first day :)
Just thought I would take a moment to tell you a little bit about Jacks nursery and how we came to get him into a resourced one.
Jack was refered to a scheme called portage through our health visitor. They came out to our home and played with him so they could build up a picture of what sort of area he was at with his learning. Before we had been diagnosed with Mosaic Monosomy 21, we had applied for him to go to the mainstream nursery attached to the girls school. We went to have a look round and immediately I knew that I wouldnt be happy with Jack attending there. Its a lovely nursery but very small and there didnt seem to be the support there that I knew Jack would need. Sadly because we didnt yet have the diagnosis this didnt qualify him for a resourced nursery (silly way it works I know!)
I told our portage worker of my worries and concerns about Jack and she mentioned the nursery that he attends now.
Once we had his diagnosis come through and with a clearer picture built up of his needs we were able to go and view the nursery and wait for the educational psychologist to come and see him. The minute we walked through the doors we knew that he would be so happy to attend there. All the children looked happy and there was lot of staff who were all exceptionally friendly. The facilities just blew us away.
When the educational psychologist had been to see Jack and said that she thought he would be better with a place there we were relieved. When the letter came to say that he had been accepted there it truly was a load off our minds.
He was due to start at the beginning of September but we left it for an extra week as we had just welcomed little Bonnie to the family and he had a little bit of a tough time adjusting. We didnt want him to feel like we had replaced him with Bonnie and then shoved him out to nursery.
He has settled so well into nursery life and the progress he has made even in the little time he has been there, has astounded us. We cant even begin to put into words how proud we are of him and how grateful we are to all the staff that work with him. I had begun to feel like he would never learn how to talk and now he is coming out with new words its just a really special feeling. Hes a trooper and never lets himself become frustrated and is learning everyday how to communicate with people around him.
I will definately be sad to say goodbye to the staff at his nursery, even though its a long time off yet!!
Wednesday 16 November 2011
Problems that have arisen with Jack
This is a list of some of the problems that have arisen over time with Jack.
* He is growing on the 2nd centile for weight and height
* He has some 'dysmorphic' features, broad nose, low set ears. His hair is also exceptionally wirey and grows totally wild. Its such a lovely feature of his though :)
* He has very very little speech as of yet. He can say Daddy clearly and mama and no. He can say yes in a way I think others could tel what he was saying and over the last few weeks has started to attempt a couple of new words.
* He has Von Willebrands disease. Blood clotting issue but we are still going through testing to find out exactly which type this is.
* His walking is getting much better but on a longer stretch can still be quite toddler like with one of his knees seeming to give way. He struggles with steps unless he has hold of your hand.
* He has hyper mobility in his joints, his thumbs are the worst affected and almost look like they are set in the wrong position.
* He has a slight abnormality in his heart, though causing no problems. 2 valves open as one instead of separately. Aortic bicuspid valve.
I think at the moment these are the biggest things we have found. He is yet to be able to use a potty when he has clothes on as he struggles to get his own clothes on and off. If he is naked from the waist down he can manage all day. Its very difficult to know how affected his learning is as with no speech there is no way to know exactly what he does and doesn't know.
* He is growing on the 2nd centile for weight and height
* He has some 'dysmorphic' features, broad nose, low set ears. His hair is also exceptionally wirey and grows totally wild. Its such a lovely feature of his though :)
* He has very very little speech as of yet. He can say Daddy clearly and mama and no. He can say yes in a way I think others could tel what he was saying and over the last few weeks has started to attempt a couple of new words.
* He has Von Willebrands disease. Blood clotting issue but we are still going through testing to find out exactly which type this is.
* His walking is getting much better but on a longer stretch can still be quite toddler like with one of his knees seeming to give way. He struggles with steps unless he has hold of your hand.
* He has hyper mobility in his joints, his thumbs are the worst affected and almost look like they are set in the wrong position.
* He has a slight abnormality in his heart, though causing no problems. 2 valves open as one instead of separately. Aortic bicuspid valve.
I think at the moment these are the biggest things we have found. He is yet to be able to use a potty when he has clothes on as he struggles to get his own clothes on and off. If he is naked from the waist down he can manage all day. Its very difficult to know how affected his learning is as with no speech there is no way to know exactly what he does and doesn't know.
Introduction and welcome to the mad house.
Well hello to anyone stopping by to see us.
Just wanted to do a quick introduction and let you know a little bit about me and why I have decided to start this blog.
I'm a CRAZY mother of 6! Yes 6! Being one of 8 children myself, this has always felt normal to me. Love having children running around me and asking me silly questions and making me laugh. Don't get me wrong there are days where I feel like I could run off and live in the wilderness too.
The children are Emily (12), Amy (10), Charlotte (8), Isabelle (5), Jack (3) and Bonnie (9 weeks).
We absolutely adore all of our girls. They are truly the most lovely children we could have ever asked for. We had always wanted a son as well to add to the clan we had going on and all the girls were desperate for a little brother. On January 29th 2008 during our 20 week scan we heard the words 'Oh I can tell what this little one is, its a BOY' I burst into tears with absolute joy. Of course we would have been just as blessed with another little lady but we were just thrilled at having a little man on the way.
Our special little fella arrived on June 21st 2008 after an uneventful pregnancy (uneventful aside from the desperate craving to smell sponges hmmm!?)
For months and maybe even into the first year I still couldn't believe that we had a son. His sisters were equally as in love with him as were the extended family. I think maybe some of this joy covered some of the little pointers that things weren't quite as they should be. After 4 girls as well you can put some of it down to the difference in gender as well.
At his 9 month check he still wasn't sitting very well and was exceptionally tiny for his age. The health visitor and nursery nurse that we saw were so sharp and accusing that I ended up in tears. Telling me that I wasn't feeding him enough and we needed to feed him mash and gravy to bulk him up. They asked us to go back and we never did because of the way we were treated. Looking back on it now maybe we should have as the process of diagnosis may have got underway much earlier.
At 18 months, Jack came down with a chest infection and was really unwell so we took him to see the GP. As Jack still wasn't walking or talking at all and was still very tiny we were referred on to the paediatricians at the hospital. At this point neither of us were particularly worried as he was just our Jack.
For a long time we were back and forward to various departments and each time they would notice another little abnormality with Jack which was just heartbreaking as all you want to hear is that everything is fine.
We were sent on to another hospital to go under their genetics department. We had a full chromosome test done and were told that everything had come back normal so again we were no clearer.
At the beginning of this year we had another chromosome test done which our geneticist said was unlikely to give us any more answers as he was getting more convinced that it was a gene issue rather than a chromosome issue. In the meantime we had become pregnant with our 6th wonderful little person.
In May of this year we were sent the letter that we had been expecting although half hoping would never come, they had found something with the blood tests and would like to see us in June. Everything went through my mind and all I wanted was to walk in and be told exactly what was wrong and what the long term prognosis would be. When we were told that he had Mosaic monosomy 21 (One half of chromosome 21 decided to wander off from some of his cells) it came as a real shock as there was literally nothing they could tell us about it. Its so rare that we havent been able to find much out about it ourselves which at first was difficult but I now believe that it has made it slightly easier just to take a day at a time and see what happens. Which in fairness is all that anybody can do anyway as you never know what is just around the corner.
I cant begin to describe the emotional roller coaster that myself and Tony have been through with this news but the one thing I can be totally sure of is that he truly is a special special little man. I knew how blessed we were to have our son but we could never have begin to imagine what a miracle he would be and how unique.
I would be lying if I said that each day is easy and that you can ever get used to the fact that your child has any type of disability but you can come to live with it and also appreciate just how special these children truly are and how blessed the families are that contain them. I wanted to start this blog as a little insight into raising a big family and also so that anyone else that might go through the journey we have to find their child has mosaic monosomy 21 can have a little somewhere to read about another child as we haven't been able to ourselves.
Just wanted to do a quick introduction and let you know a little bit about me and why I have decided to start this blog.
I'm a CRAZY mother of 6! Yes 6! Being one of 8 children myself, this has always felt normal to me. Love having children running around me and asking me silly questions and making me laugh. Don't get me wrong there are days where I feel like I could run off and live in the wilderness too.
The children are Emily (12), Amy (10), Charlotte (8), Isabelle (5), Jack (3) and Bonnie (9 weeks).
We absolutely adore all of our girls. They are truly the most lovely children we could have ever asked for. We had always wanted a son as well to add to the clan we had going on and all the girls were desperate for a little brother. On January 29th 2008 during our 20 week scan we heard the words 'Oh I can tell what this little one is, its a BOY' I burst into tears with absolute joy. Of course we would have been just as blessed with another little lady but we were just thrilled at having a little man on the way.
Our special little fella arrived on June 21st 2008 after an uneventful pregnancy (uneventful aside from the desperate craving to smell sponges hmmm!?)
For months and maybe even into the first year I still couldn't believe that we had a son. His sisters were equally as in love with him as were the extended family. I think maybe some of this joy covered some of the little pointers that things weren't quite as they should be. After 4 girls as well you can put some of it down to the difference in gender as well.
At his 9 month check he still wasn't sitting very well and was exceptionally tiny for his age. The health visitor and nursery nurse that we saw were so sharp and accusing that I ended up in tears. Telling me that I wasn't feeding him enough and we needed to feed him mash and gravy to bulk him up. They asked us to go back and we never did because of the way we were treated. Looking back on it now maybe we should have as the process of diagnosis may have got underway much earlier.
At 18 months, Jack came down with a chest infection and was really unwell so we took him to see the GP. As Jack still wasn't walking or talking at all and was still very tiny we were referred on to the paediatricians at the hospital. At this point neither of us were particularly worried as he was just our Jack.
For a long time we were back and forward to various departments and each time they would notice another little abnormality with Jack which was just heartbreaking as all you want to hear is that everything is fine.
We were sent on to another hospital to go under their genetics department. We had a full chromosome test done and were told that everything had come back normal so again we were no clearer.
At the beginning of this year we had another chromosome test done which our geneticist said was unlikely to give us any more answers as he was getting more convinced that it was a gene issue rather than a chromosome issue. In the meantime we had become pregnant with our 6th wonderful little person.
In May of this year we were sent the letter that we had been expecting although half hoping would never come, they had found something with the blood tests and would like to see us in June. Everything went through my mind and all I wanted was to walk in and be told exactly what was wrong and what the long term prognosis would be. When we were told that he had Mosaic monosomy 21 (One half of chromosome 21 decided to wander off from some of his cells) it came as a real shock as there was literally nothing they could tell us about it. Its so rare that we havent been able to find much out about it ourselves which at first was difficult but I now believe that it has made it slightly easier just to take a day at a time and see what happens. Which in fairness is all that anybody can do anyway as you never know what is just around the corner.
I cant begin to describe the emotional roller coaster that myself and Tony have been through with this news but the one thing I can be totally sure of is that he truly is a special special little man. I knew how blessed we were to have our son but we could never have begin to imagine what a miracle he would be and how unique.
I would be lying if I said that each day is easy and that you can ever get used to the fact that your child has any type of disability but you can come to live with it and also appreciate just how special these children truly are and how blessed the families are that contain them. I wanted to start this blog as a little insight into raising a big family and also so that anyone else that might go through the journey we have to find their child has mosaic monosomy 21 can have a little somewhere to read about another child as we haven't been able to ourselves.
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