Today I pulled some strings and got Ryley seen by the dentist that comes to my work. This dentist travels up from the RCH Melbourne to see kids in our EI program, and I happened to request (ok, beg a little) for Ryley to be seen.
This dentist is by far the most awesome dentist I have ever come across. He is so very patient and somehow manages to get kids to open their mouth. Although today, Ryley cottoned on pretty quick that it wasn't all fun and games and clamped his teeth down on the little mirror thingy very very quickly.
The dentist did manage to look at Ryley's teeth though, and it wasn't exactly great news. Ryley's back molars have basically eroded away due to the grinding and the medications. His 6 year old molars haven't even come through yet. He will need those teeth removed. Though the good news was that it wouldn't be causing him any pain at all which is a huge relief.
The front teeth will need to come out too because they have a higher risk of infection. He does have a second set of adult teeth so they will all be replaced eventually.
So the dentist is putting through an urgent request for Ryley to go under a GA asap to have all the work done.
It is good in a way because I have been worried about his teeth for a while, but it is crap that we have to have another GA and he will have to recover from more surgery.
*Sigh*
Wednesday, September 30, 2009
Tuesday, September 29, 2009
It's all in the Genes...ya know?
So I have wonky DNA.
Crappy chromosomes.
A Balanced Translocation.
So does Braeden now. I passed my crappy chromsomes onto him.
And don't forget Ryley, he sure did get the raw end of the deal.
For those that don't know too much about chromosomes, here is a lesson for you.
I will call it...Crappy Chromosome Arrangements 101.
We all have 46 chromosomes. Or two pairs of 23. One long arm (q) and one short arm (p). And we inherit one of each of these pairs from our mother and our father. You should have all learnt this in science in Year 7-remember-school..!?
All of these chromosomes are numbered from 1 to 23, with 1 being the biggest chromosome with the largest amount of genetic material.
WHS affects chromosome 4. To be more specific, it affects the short arm (p). To be even more specific, to have a diagnosis of WHS, there needs to be a deletion in a critical region on that short arm-on the band 16.3.
WHS is often referred to as being only a part of a spectrum of disorders, also known has 4p- syndrome. Included is another disorder known as Pitts-Rogers-Danks Syndrome (PRDS). In fact, one of those doctors who has him name to PRDS (don't ask me which one, I can't remember) was actually a doctor at the RCH Melbourne.
Anyway. Back to my crappy chromsomes.
I have, what is known as a balanced translocation. So basically these means that some of my chromosome 4 and some of my chromosome 8 swapped places. No genetic material was lost. It is all balanced out.
So when it came to Ryley inheriting a pair of chromosomes, instead of inheriting both of my balanced ones, he inherited only one. Which has resulted in the WHS.
Clear as mud hey?
Probably not.
Hard to explain without a diagram really.
Braeden, on the other hand, has really struck it lucky and inherited my balanced translocation. So he will go on to have the same issues as me in terms of offspring. Which is basically, a 1 in 4 chance of having a child with WHS.
Let's hope by the time he is ready to reproduce there will be some new technology or something.
For more info look here: WHS Gene Review It probably explains it all better-though perhaps a little more scientifically.
Sometimes I wonder how useful all this genetic information is. I can't even begin to write about what it means knowing that I am the one who has passed this faulty stuff onto my children.
Crappy chromosomes.
A Balanced Translocation.
So does Braeden now. I passed my crappy chromsomes onto him.
And don't forget Ryley, he sure did get the raw end of the deal.
For those that don't know too much about chromosomes, here is a lesson for you.
I will call it...Crappy Chromosome Arrangements 101.
We all have 46 chromosomes. Or two pairs of 23. One long arm (q) and one short arm (p). And we inherit one of each of these pairs from our mother and our father. You should have all learnt this in science in Year 7-remember-school..!?
All of these chromosomes are numbered from 1 to 23, with 1 being the biggest chromosome with the largest amount of genetic material.
WHS affects chromosome 4. To be more specific, it affects the short arm (p). To be even more specific, to have a diagnosis of WHS, there needs to be a deletion in a critical region on that short arm-on the band 16.3.
WHS is often referred to as being only a part of a spectrum of disorders, also known has 4p- syndrome. Included is another disorder known as Pitts-Rogers-Danks Syndrome (PRDS). In fact, one of those doctors who has him name to PRDS (don't ask me which one, I can't remember) was actually a doctor at the RCH Melbourne.
Anyway. Back to my crappy chromsomes.
I have, what is known as a balanced translocation. So basically these means that some of my chromosome 4 and some of my chromosome 8 swapped places. No genetic material was lost. It is all balanced out.
So when it came to Ryley inheriting a pair of chromosomes, instead of inheriting both of my balanced ones, he inherited only one. Which has resulted in the WHS.
Clear as mud hey?
Probably not.
Hard to explain without a diagram really.
Braeden, on the other hand, has really struck it lucky and inherited my balanced translocation. So he will go on to have the same issues as me in terms of offspring. Which is basically, a 1 in 4 chance of having a child with WHS.
Let's hope by the time he is ready to reproduce there will be some new technology or something.
For more info look here: WHS Gene Review It probably explains it all better-though perhaps a little more scientifically.
Sometimes I wonder how useful all this genetic information is. I can't even begin to write about what it means knowing that I am the one who has passed this faulty stuff onto my children.
Monday, September 28, 2009
The Toddler
The Toddler.
Don't you dare look at him.
If you take his Meerkat, it better be for a damn good reason.
NO. Nooooo. No No No.
Oh No.
Uh-oh.
Luckily he knows where to hide.
The Toddler.
Loves to laugh. To show off.
Has a great sense of humour.
Likes to make everyone else happy, because,
well, life is good.
Favourite food: Breastmilk.
Sleep? Only if absolutely neccessary.
The Toddler.
Loves his brother even when he gives squishy cuddles.
Loves to help anyone who needs it.
Knows when to snuggle.
Gives the best kisses.
Is the light of our lives.
Sunday, September 27, 2009
Just 'cos
This is a photo of Ryley and one of his best mates Zoe. They are such great friends.
They have grown up together and have had lots of fun times.
Zoe is a very special and beautiful little girl.
We are lucky to have all the Wheelers in our lives!
Saturday, September 26, 2009
GO SAINTS!
I have a very excited household of boys today although Ryley is giving me the death stare in this picture and Braeden is happily eating the red streamers! Ryley is still feeling quite tired, but can't wait for Zoe to come over. In fact he has been pretty well behaved because he knows Zoe is coming!
Looking forward to a fun day!
Friday, September 25, 2009
All Clear
Good News is that Ryley's chest x-ray came back all clear!! YAY!! So we haven't got antibiotics...yet! He vomited again last night from coughing so much and he is still fairly miserable today, but at least we know with rest, fluids and cuddles (and playschool) he will be fine!
Maybe it would help if we had some weather that was more than 10 degrees.
Think it might have to be a PJ day today seeing as neither of the boys want to get dressed.
Maybe it would help if we had some weather that was more than 10 degrees.
Think it might have to be a PJ day today seeing as neither of the boys want to get dressed.
Wednesday, September 23, 2009
Ryley sick again
I had been so looking forward to today and tomorrow. Ryley is on school holidays and I have taken two days off to spend with him and only him. Braeden is at daycare and I had all these lovely things planned for us to do together.
Only problem is. The poor kid is sick again.
He has had a cough for the past 5 weeks and he managed to put up with it while we were away (he coughed so hard that he vomited most days). I thought that the sunshine had cleared it up a bit, but seems I was wrong. The poor little man has been for a chest x-ray today and we are waiting for the results. I am hoping it is nothing serious, but he is sound asleep at the moment. Even sleeping through the electricians as they bang around.
There will always be other days for us to hang out together. I just hope he starts to feel better soon.
Most people know that I am not one to race off to the doctor at the first sign of a sniffle. I don't like using antibiotics unless absolutely neccessary because I believe that in order to build up immunity, your body needs to be able to attack the virus itself. And particularly with someone like Ryley where his immune system is already compromised, he needs to be able to fight things off himself. He can't rely on medication all the time (Lord know his body is already full of enough toxins from the seizures meds). So I guess when I actually take Ryley to the doctor, it is usually because I am fairly worried. In fact, Braeden still hasn't been to see a doctor yet, despite having various coughs and cold and gastro. Though with him, he has enough breastmilk to keep him well so I am lucky.
Maybe I am just anti-doctors? I have spent so much time in hospitals and with specialists in the past 7+ years that I just don't think they know it all. I learnt a long time ago to trust my own instincts. I know my children better than anyone else. I also know that a high temp is just the body's natural way of fighting off disease. I know that most viruses run their course. But I also know when the body needs some extra help. Which is why I took Ryley today. I tried to see the x-ray, but it got whipped off the screen so quickly! Damn.
I really hope that we can sort Ryley out quickly. He has started to lose weight now because he isn't tolerating his feeds. Plus he is just plain miserable. I know how much he is looking forward to the weekend too. We had planned to make some coloured cupcakes. But that might have to wait.
Hopefully, the doctor will tell me all is fine, and all Ryley is needs is cuddles and rest.
Only problem is. The poor kid is sick again.
He has had a cough for the past 5 weeks and he managed to put up with it while we were away (he coughed so hard that he vomited most days). I thought that the sunshine had cleared it up a bit, but seems I was wrong. The poor little man has been for a chest x-ray today and we are waiting for the results. I am hoping it is nothing serious, but he is sound asleep at the moment. Even sleeping through the electricians as they bang around.
There will always be other days for us to hang out together. I just hope he starts to feel better soon.
Most people know that I am not one to race off to the doctor at the first sign of a sniffle. I don't like using antibiotics unless absolutely neccessary because I believe that in order to build up immunity, your body needs to be able to attack the virus itself. And particularly with someone like Ryley where his immune system is already compromised, he needs to be able to fight things off himself. He can't rely on medication all the time (Lord know his body is already full of enough toxins from the seizures meds). So I guess when I actually take Ryley to the doctor, it is usually because I am fairly worried. In fact, Braeden still hasn't been to see a doctor yet, despite having various coughs and cold and gastro. Though with him, he has enough breastmilk to keep him well so I am lucky.
Maybe I am just anti-doctors? I have spent so much time in hospitals and with specialists in the past 7+ years that I just don't think they know it all. I learnt a long time ago to trust my own instincts. I know my children better than anyone else. I also know that a high temp is just the body's natural way of fighting off disease. I know that most viruses run their course. But I also know when the body needs some extra help. Which is why I took Ryley today. I tried to see the x-ray, but it got whipped off the screen so quickly! Damn.
I really hope that we can sort Ryley out quickly. He has started to lose weight now because he isn't tolerating his feeds. Plus he is just plain miserable. I know how much he is looking forward to the weekend too. We had planned to make some coloured cupcakes. But that might have to wait.
Hopefully, the doctor will tell me all is fine, and all Ryley is needs is cuddles and rest.
Tuesday, September 22, 2009
More photos soon..
I haven't had time to post anything the last few days. In between madly trying to paint the back extension and keeping kids occupied ('cos it's school hols and that makes for a very bored Ryley), I have barely had any computer time.
I will try and get some more photos posted up though. Our WHS kids are so gorgeous and inspirational!
I am also desperate to get writing again and have some interesting topics I want to write about. At the moment I am organising a little Grand Final get together because I have a very excited husband and Ryley (Braeden doesn't really care so much yet!) because the SAINTS have made it into the Grand Final!! So looking forward to sharing the day with some good friends and plenty of excited kids!!
I will try and get some more photos posted up though. Our WHS kids are so gorgeous and inspirational!
I am also desperate to get writing again and have some interesting topics I want to write about. At the moment I am organising a little Grand Final get together because I have a very excited husband and Ryley (Braeden doesn't really care so much yet!) because the SAINTS have made it into the Grand Final!! So looking forward to sharing the day with some good friends and plenty of excited kids!!
Wednesday, September 16, 2009
Nicholas
Nicholas is a happy boy, music, motion, loves tv, video games,though gets upset waiting for them to load up. He does not speak. Nichoas is fairly mobile and can walk aided though he will walk unaided if he thinks no one is watching. He does make some noises and other sounds. Nicholas has an infectious laugh.
This is a photo of Nicholas at Wet 'n' Wild!
Our Aussie families
As I start to get some permissions through, I will start adding some pictures! I have also asked families if they wanted to share a bit about their WHS child!
Matthew:
A happy, carefree boy, who is happy to be in his own surroundings, and loves to be with his family, but also loves seeing new people. . He eats and drinks all by mouth, he is non verbal, and has quite good mobility, but he dosent look where he is walking, so does need supervision most times.He has no interest in Television or toys, but does enjoy music playing, he loves swings and horse riding, and travelling in the car or a plane. No obvious internal health problems as such.
Matthew at our family fun day at Wet 'n' Wild
Matthew:
A happy, carefree boy, who is happy to be in his own surroundings, and loves to be with his family, but also loves seeing new people. . He eats and drinks all by mouth, he is non verbal, and has quite good mobility, but he dosent look where he is walking, so does need supervision most times.He has no interest in Television or toys, but does enjoy music playing, he loves swings and horse riding, and travelling in the car or a plane. No obvious internal health problems as such.
Matthew at our family fun day at Wet 'n' Wild
Monday, September 14, 2009
Where do I start?
The best place to start would be with the conference! This was our 3rd conference (they are held bi-annually) and it is just so wonderful to see how all the kids and adults have grown and changed. It is always lovely to meet new families as well and we were lucky enough to meet a couple of families who hadn't been to any of the recent meets that we had attended.
The conference itself was quite a whirlwind of shared meals, playtime for the children (although don't get me started on Ryley's respite carer-consider a complaint lodged is all I can say), listening to speakers, and most of all, talking and sharing stories with other families.
It think the most important thing is that family-to-family contact. Being able to talk about our experiences and share ideas is just so empowering. All of our WHS kids are unique and different. Some walk and talk. Some have seizures. Some are attending mainstream school, some specialist settings. Some are fed via artificial means (PEG, NG), some eat orally. All have different abilities. But the best part of all is seeing the smiles, hearing the laughs and watching all the WHS kids communicate with each other. Everyone has a very different personality.
We were really lucky to get to know some families better that we didn't know as well before. We have vowed to catch up with some of the families before the next conference (Liv & Littles to start with and then Thomas and his family later next year).
Something that really stood out this year for me was the siblings. The older ones (Sarah, Talia, Indi, Savannah in particular) were just fantastic and they gave us such a wonderful break by playing with Ryley and Braeden. We aren't used to having anyone just take our kids away to play so we can relax and enjoy ourselves. It is so nice to know that Braeden will grow up surrounded by all these beautiful role models. I hope that the siblings all realise just how awesome they are.
Before I put photos up I do want to get permission from those whose children/adults are in them. So bear with me while I do that.
The conference itself was quite a whirlwind of shared meals, playtime for the children (although don't get me started on Ryley's respite carer-consider a complaint lodged is all I can say), listening to speakers, and most of all, talking and sharing stories with other families.
It think the most important thing is that family-to-family contact. Being able to talk about our experiences and share ideas is just so empowering. All of our WHS kids are unique and different. Some walk and talk. Some have seizures. Some are attending mainstream school, some specialist settings. Some are fed via artificial means (PEG, NG), some eat orally. All have different abilities. But the best part of all is seeing the smiles, hearing the laughs and watching all the WHS kids communicate with each other. Everyone has a very different personality.
We were really lucky to get to know some families better that we didn't know as well before. We have vowed to catch up with some of the families before the next conference (Liv & Littles to start with and then Thomas and his family later next year).
Something that really stood out this year for me was the siblings. The older ones (Sarah, Talia, Indi, Savannah in particular) were just fantastic and they gave us such a wonderful break by playing with Ryley and Braeden. We aren't used to having anyone just take our kids away to play so we can relax and enjoy ourselves. It is so nice to know that Braeden will grow up surrounded by all these beautiful role models. I hope that the siblings all realise just how awesome they are.
Before I put photos up I do want to get permission from those whose children/adults are in them. So bear with me while I do that.
Sunday, September 13, 2009
WOW
We are finally home after 10 days on the road and 5 awesome days on the Gold Coast catching up with our WHS family. There is so much to share and a million photos, but seeing as we just got home yesterday arvo, I have lots to do (namely, unpack and restock our fridge because beer just won't cut it).
It truly has been a trip full of memories, and I don't think we had a day where we did nothing! We were always on the go, exploring new places and visiting places of interest.
I will just say that the next bi-annual AWHSSG conference will be hosted by US here in BALLARAT! So I have two years to come up with an awesome 4 days for all our families! I am excited and have lots of great ideas...now to just start thinking about the funding side of things!
I will be back later when I have some time to share the highlights of our trip!
It is good to be home.
It truly has been a trip full of memories, and I don't think we had a day where we did nothing! We were always on the go, exploring new places and visiting places of interest.
I will just say that the next bi-annual AWHSSG conference will be hosted by US here in BALLARAT! So I have two years to come up with an awesome 4 days for all our families! I am excited and have lots of great ideas...now to just start thinking about the funding side of things!
I will be back later when I have some time to share the highlights of our trip!
It is good to be home.
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