Just back from ENT appointment. Kian was really good with the Dr looking in his ear and was even having a giggle at it. The hearing test did not go great. Kian seemed to me more interested in the toys that they were using to distract him. They definitely worked in distracting him but he wasnt concentrating on the sounds.
We saw the consultant who is lovely and two teachers of the deaf. They have met Kian before. They agree that Kian does definitely hear but it is hard to determine how much he hears or how he hears. The testing has not shown great results in the hearing.
On the last appointment hearing aids were discussed but we agreed to see how things went. I believe Kian is selective in his hearing but if hearing aids will help, as much as I would rather he didnt need them, then we have to try them. The team have advised us to try them at the beginning for an hour per day and see how they work for Kian. Sometimes Kian will not focus on a person for longer than a couple of moments so it may help his attention if hears more.
Impressions have been taken of his ears. The ears were checked first, then a small spongue inserted and positioned in the ear, then a mould was placed just in the ear. Kian was so good having this done to both ears. We will be called when they are ready. We will go in and the hearing aids will be initially tried with Kian and we will be shown exactly what to do with them. Time will tell hopefully with them!
Monday 2 November 2009
Friday 30 October 2009
What has been happening?
At the end of september we went to see the dietician. These appointments always seem to go well. I think the main reason being is that the dietician has never disregarded Kian's weight issues because he has WHS. When Kian was weighed, he was 24lb 8. The dietician was very pleased as was I. The dietician decided to keep Kian on the paediasure supplements, but have one a day with extra fibre. Kian seems to have loads of fibre in his diet but his last seizures seemed to be connected to constipation and straining. Kian has not yet started these feeds as there was issues with the GP surgery adjusting his perscription. Hopefully we will see a difference when they start.
Kian had been 6 months without having a seizure. I was at work and my brother called, who was babysitting, to say that Kian had a fit and he had gave him midazlom to help bring him out of it. He had been straining before falling asleep then fitted after waking up. He then had another seizure the next morning, again straining. The more recent fits had fell in a pattern of Kian having 2 in 24 hours. 9 hours after the 2nd fit Kian had another one. There was no straining but this one seemed more intense. We took him to hospital to get checked out as it did feel a worry. The doctor said it was possibly a viral infection and to keep him hydrated and on calpol paracetamol. Kian was struggling to drink so we used his medication syringues to keep giving him drinks of water. This was over a month ago, he is fine within himself now but has a cough that seems to have lingered. We spoke to Kian's consultant and she upped his anit-epileptic meds, and perscribed lactalose to help him not be constipated.
Nursery seems to be going ok. Kian goes to nursery tues-thurs on the transport with other children. He does like that. I am pleased that he is doing rebound, music & movement, and swimming, but I do not have a strong enough opinion on the school yet. There is not alot of choice of schools for children with difficulties, this is what I feel anyway. I would like to hope that every person working with children with difficulties or any children in fact have the childs best interests at heart. But that is not always going to be the case.
Physio & OT have worked really well with home and nursery. We have home input, input into the private nursery and then in his special nursery. Speech and Language Therapy seems to be a problem. We ceased working with the last ST because of lack of understanding to what we were asking as parents. I have been in touch with the lead professional of the department which I have not at this time found to be of any help. I was told that when Kian would go into nursery his therapist would transfer to a school based one but we would still have input at home. We had the visit in the summer for the new ST to meet Kian. She said she would assess him at nursery and determine targets for nursery and home. I have asked for these recently and I have now been sent a copy of Kian's SALT targets through the post. I think targets should be discussed and though I understand some things I am not a therapist and I expect a more involved role. One of the targets is something that Kian is achieving so I am wondering exactly about how these targets were reached. I am waiting to hear back as I have asked to discuss them. I have also tried to find out exactly how much therapy Kian is entitled to. It seems to be a very grey area with the department and I dont think our feelings as a family have been taking into consideration. There is an organisation called PALS who can help with any issue that deals with health. I will see what I hear back and if it not satisfactory I think I will have to speak to PALS. They will liase with professionals for you and if there is not enough funding they can apply for more funding to help get what is needed. It is worth a try.
This week we went to see Kian's consultant. She answered alot of questions and will find out others. For example, is Kian a child that should require the flu vaccine or the swine flu vaccine. We are going to carry on without the flu vaccine and she will find out about the swine flu. One of the issues we have had is our health visitor leaving who was also our key worker. I dont think we have had someone yet who has acted as a key worker really. Our consultant has said that if we need something to find out or someone to turn to, she will be the person to do it. Gosh, someone offering to help a little more than what is expected within their job role. These people are hard to come by. The Dr got down on the floor and played with Kian whilst he was shredding the roll that they have in Dr's rooms. As we left the Dr give me a hug, couldnt believe this is our doctor.
We go to the ENT department on monday. We met a lady at the nursery who came to assess Kian. She did get some responses on the hearing test but she thought that it seemed to be that Kian takes a moment or two before he responds to things which I have noticed. This could be the reason why there is doubts on the hearing. If this is the case then hearing aids wont be needed. I dont want Kian to have them if he does not really need them. Will update after monday.
At home Kian is continuing with his swimming lessons. He loves being in the water and can hold himself upright when he has his armbands on.
He is doing really well puting food to his mouth. Though he is also trying to put tissues and play doh in his mouth too. He tries to put his tommee tippee cup to his mouth but does not get much from it. He likes to drink out of the dodi cup, though we hold it for him.
He is now cruising along the furniture. He loves to be on his feet. He still is not crawling, but he gets himself around.
One of the big things for myself is that I have given up work. This was a difficult decision, I worked with such lovely people. It was so strange that I went to a new place of work 2 years ago, which was a special needs school. Then Kian was diagnosed a month later. It had got to the point that life was getting very very busy. Kian would not sleep through the night, then he would be up and ready for nursery. I would do some pottering around the house, then Kian would be back, have his lunch, have a sleep. Then an hour later I would go to work and when I came home Kian would be in bed. I want more time with Kian, there is so much to do with him and so much to enjoy. I did not want to be someone who did not have a job, but I felt that my job as mam to Kian has had to come first and there were no negotiations on that.
Kian had been 6 months without having a seizure. I was at work and my brother called, who was babysitting, to say that Kian had a fit and he had gave him midazlom to help bring him out of it. He had been straining before falling asleep then fitted after waking up. He then had another seizure the next morning, again straining. The more recent fits had fell in a pattern of Kian having 2 in 24 hours. 9 hours after the 2nd fit Kian had another one. There was no straining but this one seemed more intense. We took him to hospital to get checked out as it did feel a worry. The doctor said it was possibly a viral infection and to keep him hydrated and on calpol paracetamol. Kian was struggling to drink so we used his medication syringues to keep giving him drinks of water. This was over a month ago, he is fine within himself now but has a cough that seems to have lingered. We spoke to Kian's consultant and she upped his anit-epileptic meds, and perscribed lactalose to help him not be constipated.
Nursery seems to be going ok. Kian goes to nursery tues-thurs on the transport with other children. He does like that. I am pleased that he is doing rebound, music & movement, and swimming, but I do not have a strong enough opinion on the school yet. There is not alot of choice of schools for children with difficulties, this is what I feel anyway. I would like to hope that every person working with children with difficulties or any children in fact have the childs best interests at heart. But that is not always going to be the case.
Physio & OT have worked really well with home and nursery. We have home input, input into the private nursery and then in his special nursery. Speech and Language Therapy seems to be a problem. We ceased working with the last ST because of lack of understanding to what we were asking as parents. I have been in touch with the lead professional of the department which I have not at this time found to be of any help. I was told that when Kian would go into nursery his therapist would transfer to a school based one but we would still have input at home. We had the visit in the summer for the new ST to meet Kian. She said she would assess him at nursery and determine targets for nursery and home. I have asked for these recently and I have now been sent a copy of Kian's SALT targets through the post. I think targets should be discussed and though I understand some things I am not a therapist and I expect a more involved role. One of the targets is something that Kian is achieving so I am wondering exactly about how these targets were reached. I am waiting to hear back as I have asked to discuss them. I have also tried to find out exactly how much therapy Kian is entitled to. It seems to be a very grey area with the department and I dont think our feelings as a family have been taking into consideration. There is an organisation called PALS who can help with any issue that deals with health. I will see what I hear back and if it not satisfactory I think I will have to speak to PALS. They will liase with professionals for you and if there is not enough funding they can apply for more funding to help get what is needed. It is worth a try.
This week we went to see Kian's consultant. She answered alot of questions and will find out others. For example, is Kian a child that should require the flu vaccine or the swine flu vaccine. We are going to carry on without the flu vaccine and she will find out about the swine flu. One of the issues we have had is our health visitor leaving who was also our key worker. I dont think we have had someone yet who has acted as a key worker really. Our consultant has said that if we need something to find out or someone to turn to, she will be the person to do it. Gosh, someone offering to help a little more than what is expected within their job role. These people are hard to come by. The Dr got down on the floor and played with Kian whilst he was shredding the roll that they have in Dr's rooms. As we left the Dr give me a hug, couldnt believe this is our doctor.
We go to the ENT department on monday. We met a lady at the nursery who came to assess Kian. She did get some responses on the hearing test but she thought that it seemed to be that Kian takes a moment or two before he responds to things which I have noticed. This could be the reason why there is doubts on the hearing. If this is the case then hearing aids wont be needed. I dont want Kian to have them if he does not really need them. Will update after monday.
At home Kian is continuing with his swimming lessons. He loves being in the water and can hold himself upright when he has his armbands on.
He is doing really well puting food to his mouth. Though he is also trying to put tissues and play doh in his mouth too. He tries to put his tommee tippee cup to his mouth but does not get much from it. He likes to drink out of the dodi cup, though we hold it for him.
He is now cruising along the furniture. He loves to be on his feet. He still is not crawling, but he gets himself around.
One of the big things for myself is that I have given up work. This was a difficult decision, I worked with such lovely people. It was so strange that I went to a new place of work 2 years ago, which was a special needs school. Then Kian was diagnosed a month later. It had got to the point that life was getting very very busy. Kian would not sleep through the night, then he would be up and ready for nursery. I would do some pottering around the house, then Kian would be back, have his lunch, have a sleep. Then an hour later I would go to work and when I came home Kian would be in bed. I want more time with Kian, there is so much to do with him and so much to enjoy. I did not want to be someone who did not have a job, but I felt that my job as mam to Kian has had to come first and there were no negotiations on that.
Sunday 30 August 2009
The End Of The Hols!
Well it is now the end of the school holidays which means I'm back to work next week. I feel we have all had a great holiday. Craig was home for 3 weeks and had loads of time with Kian. We had a week away in a caravan which was a lovely break. Totally relaxing. Kian loved watching the children in the park, it was sad that he couldn't join in the way he would have been able to if he didn't have his difficulties. But the bonus was that Kian was very interested in the children and what was going on, and he got enjoyment out of watching them. A young girl brought her mam to the park to show her Kian, as she said he was just so cute. That was really nice. Sometimes I wonder if children do realise when there is a child that is a little more vulnerable? It was nice though!
For the last 4 days, Kian has been pulling himself to stand against the sofa. How proud we are! Kian puts himself in the crawling position but does not crawl. I really hope he does, as I can see how many other aspects of his development it will help. But seeing him pull himself up is great. The way Kian gets around is that, he will roll, then sit up, either turn around or get on knees, then lie down and roll in a different direction. This works for Kian and it is lovely to see he has the motivation to get to a particular place.
Kian loves bubbles. He will sign "more" if you put them away and he just gets very excited by them. A week ago he made a "per" sound when we were saying "pop", to pop the bubbles. This was new and he has not done it in the last few days but hopefully this is something new that will develop. I feel we could do with some more input with speech and communication, but Kian begins his special nursery on the 8th Sep, I have heard good things from there and hopefully this will bring a development to all Kian's needs.
We have taken Kian to a tumbletots class for almost 2 years. The class he is in is from 6 months to walking. Well Kian has been in this class for 2 years, where the other children have came and then moved to the next class. Tumbletots has been great. They have soft play activites and alot to encourage children. You begin and end the class in a circle with a sing song. We have just decided that it is the time to not go to this class anymore. Over the time, it has been hard, with it being a mainstream group, to see new parents and babies come in and their babies to do so much more than Kian. But you have to decide whether you want to stop something because of how you feel, when you know your child gets something out of it. We have overcome this feeling so many times. You dread someone asking Kian's age. But we have felt the time has come to leave. Kian will do nursery (mainstream) all day monday, and special nursery 9.30-11.30 tues, wed, and thursday. I don't work a friday so I have decided to keep this day free and then do what we please. Whether we stay in our pjs till lunch time, or whether I take him to a local soft play. I feel it will be nicer to not be committed once Kian's new schooling begins. I must say the staff at tumbletots are absaloutely fantastic. They have encouraged Kian and ourselves, and have been very caring and supportive towards us. Their support and kind words have been a great help when we have felt down. I will really miss taking Kian there. Recently I went to a workshop ran by OT's. Tumbletots was on the list of things to try with young children. I think it has been a great help to our family and would recommend it to anyone.
I have read of another whs family beginning potty training with their daughter. I am really impressed with how it is going for them and also their attitude to it. We have thought of when Kian settles into nursery to think alot more on this and hopefully get some advice and guidance from the nursery. In the meantime we are going to buy a potty and have it around the home, and maybe just give Kian a try now and then. This may seem strange with Kian not being mobile, but I think there is more to it than that. The understanding of it all will be a big factor but we can all but try!
In term time we take Kian to a school for parents class which is based at a fantastic school. This school is funded privately. The school I think is geared towards children with cerebal palsy. The group we go to, is a few hours one day per week. It is based on conductive education, which is fascinating. I could not have too much of an opinion of it right now but it seems quite a clear, gentle and direct method of working towards things. The staff here are fantastic. I have been given some great advice for Kian from one of the staff in particular who I am so pleased to have known. She has had a great relationship with Kian and has seemed at times one step ahead of other people involved with us. We will continue with this group and hopefully it will continue to be a benefit.
Over the next few months we have paediatrician, dietician, and ent appointments. We will continue with his physio and ot therapy at home, Kian will begin his new nursery where his speech therapy will be based. Physio and OT will also work into the nursery. Kian seems to have been quite healthy for awhile. I think the grommets have helped this. I do dread the next poorly time, but it will come eventually. We are really happy with how things are going, Kian is making progress, though it is extremely slow, we are very very proud of him working so hard. And we are thankful to all the people that support us, family, friends and professionals!
For the last 4 days, Kian has been pulling himself to stand against the sofa. How proud we are! Kian puts himself in the crawling position but does not crawl. I really hope he does, as I can see how many other aspects of his development it will help. But seeing him pull himself up is great. The way Kian gets around is that, he will roll, then sit up, either turn around or get on knees, then lie down and roll in a different direction. This works for Kian and it is lovely to see he has the motivation to get to a particular place.
Kian loves bubbles. He will sign "more" if you put them away and he just gets very excited by them. A week ago he made a "per" sound when we were saying "pop", to pop the bubbles. This was new and he has not done it in the last few days but hopefully this is something new that will develop. I feel we could do with some more input with speech and communication, but Kian begins his special nursery on the 8th Sep, I have heard good things from there and hopefully this will bring a development to all Kian's needs.
We have taken Kian to a tumbletots class for almost 2 years. The class he is in is from 6 months to walking. Well Kian has been in this class for 2 years, where the other children have came and then moved to the next class. Tumbletots has been great. They have soft play activites and alot to encourage children. You begin and end the class in a circle with a sing song. We have just decided that it is the time to not go to this class anymore. Over the time, it has been hard, with it being a mainstream group, to see new parents and babies come in and their babies to do so much more than Kian. But you have to decide whether you want to stop something because of how you feel, when you know your child gets something out of it. We have overcome this feeling so many times. You dread someone asking Kian's age. But we have felt the time has come to leave. Kian will do nursery (mainstream) all day monday, and special nursery 9.30-11.30 tues, wed, and thursday. I don't work a friday so I have decided to keep this day free and then do what we please. Whether we stay in our pjs till lunch time, or whether I take him to a local soft play. I feel it will be nicer to not be committed once Kian's new schooling begins. I must say the staff at tumbletots are absaloutely fantastic. They have encouraged Kian and ourselves, and have been very caring and supportive towards us. Their support and kind words have been a great help when we have felt down. I will really miss taking Kian there. Recently I went to a workshop ran by OT's. Tumbletots was on the list of things to try with young children. I think it has been a great help to our family and would recommend it to anyone.
I have read of another whs family beginning potty training with their daughter. I am really impressed with how it is going for them and also their attitude to it. We have thought of when Kian settles into nursery to think alot more on this and hopefully get some advice and guidance from the nursery. In the meantime we are going to buy a potty and have it around the home, and maybe just give Kian a try now and then. This may seem strange with Kian not being mobile, but I think there is more to it than that. The understanding of it all will be a big factor but we can all but try!
In term time we take Kian to a school for parents class which is based at a fantastic school. This school is funded privately. The school I think is geared towards children with cerebal palsy. The group we go to, is a few hours one day per week. It is based on conductive education, which is fascinating. I could not have too much of an opinion of it right now but it seems quite a clear, gentle and direct method of working towards things. The staff here are fantastic. I have been given some great advice for Kian from one of the staff in particular who I am so pleased to have known. She has had a great relationship with Kian and has seemed at times one step ahead of other people involved with us. We will continue with this group and hopefully it will continue to be a benefit.
Over the next few months we have paediatrician, dietician, and ent appointments. We will continue with his physio and ot therapy at home, Kian will begin his new nursery where his speech therapy will be based. Physio and OT will also work into the nursery. Kian seems to have been quite healthy for awhile. I think the grommets have helped this. I do dread the next poorly time, but it will come eventually. We are really happy with how things are going, Kian is making progress, though it is extremely slow, we are very very proud of him working so hard. And we are thankful to all the people that support us, family, friends and professionals!
Monday 17 August 2009
Bringing us upto date!
We are not far off being two years down the line from when Kian was diagnosed. The previous blogs have been really our history with it all. This blog will be about the last few months, then hopefully we will be upto date with news!
Kian was measured for his second pair of piedro boots in early july. We attend a special needs school where he has his orthhotics appointment. The first pair have been really helpful to him with his standing. We do alot of standing without the shoes also as hopefully he wont have to depend on the shoes forever to give him the correct support.
We have had input from a dietician since march,08. Another whs mum had mentioned being involved with a dietician and I had not even thought of it even though Kian's weight was very slow. I spoke to our then paediatrician who said we knew Kian was going to have slow weight as that is a symptom of whs. If he had downs syndrome we would be able to follow a downs syndrome chart, but there was not one for whs. Eventually with a little nagging we were referred to Kian's dietician. I believe one of the good ones. On the first appointment she told us that even though there would be slow weight gain with whs, we should still maximise Kian's calories. So we started with all the extra cheese, butter, milk etc in food. We then went on to give him a paediasure drink with his breakfast. This did show results. Kian is now on two cartons of paediasure plus a day. One with breakfast and one with supper. He loves a variety of food, so he has fattening food, but also lots of veg and fruit. Our last visit showed Kian was on the 2nd centile line of the "normal" weight chart, weighing 23lbs. We, including the dietician were over the moon. He is 85cm in length. I did give our dietician the link to the whs growth chart that we have found out from other whs parents. These parents have been such a great source of information and give lots of support. The link for growth for whs is http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=2413080
We go back to the dietician at the end of sep.
When Kian had grommets inserted it was believed that his hearing tests would improve. This has not been the case. We have been involved with a teacher of the deaf. We know that Kian does hear, but what or how he hears we do not know. He is going to be monitored at nursery over the next term. At home we think that his hearing is fine, so hopefully when at nursery they will also agree with this. If this is not the case then hearing aids will be tried. Initially I don't think Kian will like them one bit. In my mind I am thinking that possibly his hearing is delayed like everything else. The hearing impaired team have been fantastic and have offered support in other areas which has been great.
At our last paediatrician appointment the doctor was really pleased with how Kian is doing. He is on a lower dose of sodium valporate for his seizures, this being because he has put on weight and as far as we are aware, he has had no more seizures since march. They looked to whether to up his medicine, but we are to wait until he puts on another 2 kilo or if he has any more seizures. I do not like the sound of waiting for him to have more seizures but I obviously do not want it to be a higher dose if it is not nessicary. We spoke of how at the whs meeting it was recommended to have the kidneys checked yearly. The doctor will write to our genetic doctor for advice on that. We spoke of Kian not sleeping too well, and it has been suggested to have an oxygen test done whilst he is sleeping. We are going to see how things go.
We went to see our genetic doctor last week. Kian was asleep till the end, typical. Craig wanted to show off his signs. He has suggested urine samples for the kidney check annually until Kian is 5. We have heard people speak of micro deletions, he told us that we can find out the size of the deletion and the complete breakdown, but it would not determine what Kian will or will not be able to achieve. We said we will leave that for now, but possibly in the future find out more. We also asked whether a brain scan would be helpful. He said it would be interested to see what it would look like from a research point of view, but it would not tell us anything more for Kian. We also spoke of possible future children, how we felt about it and also what our options would be for us to feel as much informed if we do decide to have more children. We will go back again in 6 months.
Kian has went to a private mainstream nursery since last oct. He started by doing 2 half days and recently it has changed to one full day a week. He started in the second baby room where the children were a little younger than him but were more developed. We wanted Kian to see what children can do to be motivated. He moved into the next room in Jan, which was a good changed for Kian. He gets great enjoyment from other children. In this room the children were more active, they played more with gloop etc. This was the room where the therapists began showing the exercises. The nursery have been very good, and Kian has a great relationship with his key worker. She tries very hard with Kian but it comes so natural with her. Kian was awarded funding which would give him one to one support. This would be extremely helpful when Kian moved to his next room "the penguins", in june. His key worker agreed to work in the next room on the times that Kian was in there. With the nursery working alongside what we do at home has been great. We have had 3 multi-disciplinary meetings there, where all the professionals involved and myself and Craig discuss Kian and what happens next for him.
We have chose for Kian to access a special needs nursery from sep. He will do 3 mornings for 2 1/2 hours. He could go in for 5 mornings. This is from the age of 2 1/1. We did want to keep the mainstream involvement for as long as we can. We are not nieve about Kian's needs but hopefully at this age it is not an issue of inclusion. Kian has the support which means he and his peers are safe and he has the mainstream experience. At the special needs nursery he will do music and movement on one day, rebound on another, and then swimming on the last. Hopefully this will bring great benefits. This nursery will also assess Kian's needs and who and where they can be best met. It will be an exciting time come september!
Finally, we are hopefully going to be part of a behaviour study in people with whs. Though Kian is still quite young, if sharing our experiences help, then great. There was talk at the conference in May of autism. Hopefully more research will go into whs which will help us find out more, but we are keeping an open mind about autism. Kian is very loving, but there have been a few characteristics that have made me wonder. Some people say, all special needs people will have some autistic traits. Some people say that ALL people have some autistic traits. ???
Kian was measured for his second pair of piedro boots in early july. We attend a special needs school where he has his orthhotics appointment. The first pair have been really helpful to him with his standing. We do alot of standing without the shoes also as hopefully he wont have to depend on the shoes forever to give him the correct support.
We have had input from a dietician since march,08. Another whs mum had mentioned being involved with a dietician and I had not even thought of it even though Kian's weight was very slow. I spoke to our then paediatrician who said we knew Kian was going to have slow weight as that is a symptom of whs. If he had downs syndrome we would be able to follow a downs syndrome chart, but there was not one for whs. Eventually with a little nagging we were referred to Kian's dietician. I believe one of the good ones. On the first appointment she told us that even though there would be slow weight gain with whs, we should still maximise Kian's calories. So we started with all the extra cheese, butter, milk etc in food. We then went on to give him a paediasure drink with his breakfast. This did show results. Kian is now on two cartons of paediasure plus a day. One with breakfast and one with supper. He loves a variety of food, so he has fattening food, but also lots of veg and fruit. Our last visit showed Kian was on the 2nd centile line of the "normal" weight chart, weighing 23lbs. We, including the dietician were over the moon. He is 85cm in length. I did give our dietician the link to the whs growth chart that we have found out from other whs parents. These parents have been such a great source of information and give lots of support. The link for growth for whs is http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=2413080
We go back to the dietician at the end of sep.
When Kian had grommets inserted it was believed that his hearing tests would improve. This has not been the case. We have been involved with a teacher of the deaf. We know that Kian does hear, but what or how he hears we do not know. He is going to be monitored at nursery over the next term. At home we think that his hearing is fine, so hopefully when at nursery they will also agree with this. If this is not the case then hearing aids will be tried. Initially I don't think Kian will like them one bit. In my mind I am thinking that possibly his hearing is delayed like everything else. The hearing impaired team have been fantastic and have offered support in other areas which has been great.
At our last paediatrician appointment the doctor was really pleased with how Kian is doing. He is on a lower dose of sodium valporate for his seizures, this being because he has put on weight and as far as we are aware, he has had no more seizures since march. They looked to whether to up his medicine, but we are to wait until he puts on another 2 kilo or if he has any more seizures. I do not like the sound of waiting for him to have more seizures but I obviously do not want it to be a higher dose if it is not nessicary. We spoke of how at the whs meeting it was recommended to have the kidneys checked yearly. The doctor will write to our genetic doctor for advice on that. We spoke of Kian not sleeping too well, and it has been suggested to have an oxygen test done whilst he is sleeping. We are going to see how things go.
We went to see our genetic doctor last week. Kian was asleep till the end, typical. Craig wanted to show off his signs. He has suggested urine samples for the kidney check annually until Kian is 5. We have heard people speak of micro deletions, he told us that we can find out the size of the deletion and the complete breakdown, but it would not determine what Kian will or will not be able to achieve. We said we will leave that for now, but possibly in the future find out more. We also asked whether a brain scan would be helpful. He said it would be interested to see what it would look like from a research point of view, but it would not tell us anything more for Kian. We also spoke of possible future children, how we felt about it and also what our options would be for us to feel as much informed if we do decide to have more children. We will go back again in 6 months.
Kian has went to a private mainstream nursery since last oct. He started by doing 2 half days and recently it has changed to one full day a week. He started in the second baby room where the children were a little younger than him but were more developed. We wanted Kian to see what children can do to be motivated. He moved into the next room in Jan, which was a good changed for Kian. He gets great enjoyment from other children. In this room the children were more active, they played more with gloop etc. This was the room where the therapists began showing the exercises. The nursery have been very good, and Kian has a great relationship with his key worker. She tries very hard with Kian but it comes so natural with her. Kian was awarded funding which would give him one to one support. This would be extremely helpful when Kian moved to his next room "the penguins", in june. His key worker agreed to work in the next room on the times that Kian was in there. With the nursery working alongside what we do at home has been great. We have had 3 multi-disciplinary meetings there, where all the professionals involved and myself and Craig discuss Kian and what happens next for him.
We have chose for Kian to access a special needs nursery from sep. He will do 3 mornings for 2 1/2 hours. He could go in for 5 mornings. This is from the age of 2 1/1. We did want to keep the mainstream involvement for as long as we can. We are not nieve about Kian's needs but hopefully at this age it is not an issue of inclusion. Kian has the support which means he and his peers are safe and he has the mainstream experience. At the special needs nursery he will do music and movement on one day, rebound on another, and then swimming on the last. Hopefully this will bring great benefits. This nursery will also assess Kian's needs and who and where they can be best met. It will be an exciting time come september!
Finally, we are hopefully going to be part of a behaviour study in people with whs. Though Kian is still quite young, if sharing our experiences help, then great. There was talk at the conference in May of autism. Hopefully more research will go into whs which will help us find out more, but we are keeping an open mind about autism. Kian is very loving, but there have been a few characteristics that have made me wonder. Some people say, all special needs people will have some autistic traits. Some people say that ALL people have some autistic traits. ???
Therapists
When our paediatrician told us about wolf hirschhorn syndrome, we were told there was no treatment, no cure but lots of support would be given. I have found that this support is not automatically given. You have to keep on at services, sometimes you feel like you are begging for what SHOULD BE there to help your child and your family. There are some great professionals out there, but there are also the ones that you wish you did not have to come across.
- PHYSIO Referral was made to physio and Kian's first appointment was 31st Jan,08. Kian had 6 appointments over 6 weeks with a gap in between. Then his appointments were set to one per month. I asked why this was and was told that because Kian was not changing quickly then there was no need for more frequent sessions. We were doing the exercises at home, though there was not a great variety. We were issued with a corner chair, which did help, a table and a wedge to use for tummy time. I questioned the monthly sessions again as I heard so much about early intervention. I did not expect miracles but we wanted to give Kian the best opportunity. We have a report from that physio which states that she would continue to work with Kian within the limits of his medical condition. ??? What excactly are the limits? We knew that low muscle tone plays a massive part in the delay of Kians motor development, but there are children with whs that have crawled and walked at different ages, one girl before the age of 2. She told us that Kian's condition had a poor prognosis and that some children do not get further than where Kian was, which was sitting supported. This was no good to us. We try as a family to be realistic but also hopeful of Kian maximising HIS potential. We requested another physio. We had a meeting which ended up with the head physio asking if she could take Kian on. We would try blocks of therapy and then possibly a period of consolidation. This was a great result. This physio now overlooks Kian. She goes into his nursery to show the staff there positions etc, she comes out to us reguarly, and we have a physio technical instructor who comes out weekly in term time. A TI is not a qualified through university physio, but more of who has learned through hands on. We had changed physio's a year ago. Kian can now sit, sit himself up, stand supported, get in the crawling position (though not yet getting anywhere), pull onto knees, and most recently he has pulled himself from sitting to standing against the sofa. This is early days though. Kian does not have a standing frame. His physio decided that it would not be best for Kian, and I am hoping that it is the right decision. I am excited for Kian to crawl if he is going to, as I think it will open loads more avenues for him. He has the motivation, so fingers crossed!
- SPEECH THERAPY Kian was referred by physio in february to SALT. Our first appointment was in march which was initially for an eating and swallowing assessment. We were given good advice on feeding and which foods to try. We recently had problems with the service when we asked for a little more advice and ideas to try with Kian for communication. Kian loves children and we would like more than ever for him to be able to communicate with other people. There has been times of frustration for him which makes us frustrated for him. What we have come up against, is being told there is not enough man hours from the services, and we were recently told that we should count ourselves lucky for the therapy that we had received. Is this something that parents of a disabled child should be faced with? Is there not enough that we have to cope with! Well, it may be fact that services need more money, hours, staff, but our child is disabled and we need those services to help our son progress. Our therapist did use exercises from the Hanen Centre http://www.hanen.org/. We have a new therapist coming out tomorrow who works in the nursery that Kian will be going to in Sep. We do use objects of reference alot with Kian, this works for us. Also Kian has went to a sing and sign class which is a mainstream group aimed at babies and toddlers. We have went for over a year. Kian's first sign was more. A couple of months ago he began signing all gone, finished. Then recently he has been signing friend. We are really proud of him. These are makaton signs. Yesterday when we were out and his dad came up to him from somewhere else he signed friend. I feel he associates this with people who are familiar. He also signs it when his favourite programme, In the night garden, comes on. I don't know how his speech will develop, but we will keep trying!
- OCCUPATIONAL THERAPY Kian was referred to OT in Feb, 08. We filled in a questionnaire. We waited a year to be seen. This was a service well worth the wait. In the time that we waited some professionals said it did not matter not having this service at Kian's age. I may not be a professional but I disagree. They encourage work on the tummy, exercises to strengthen the shoulders, and work on the finer motor skills. We have an OT TI who comes out every two weeks, Kian gets on very well with her and she takes no nonsence. Then we have an OT who oversees the TI and who goes into the nursery to give recommendations. There is lots more to this service for us to find out about and also to utalise.
- PORTAGE Portage is a home service where a pre-school teacher comes into your home with lots of different toys and ideas to try. They incorporate all things that the other therapists are working on. Our paediatrician told us of portage even before Kian was diagnosed. When the diagnosis was made, I made a phonecall a few weeks later and asked him for information on portage. He then told me it wasn't a well established service in our area. This was confusing as he spoke highly of this in previous appointments. I came off the phone, straight onto the internet, found a contact, and then emailed a lady to do with portage. The next day she replied, came out the following week and has been Kian's portage worker ever since. At first she came out weekly, more recently it has been every two weeks. Now it will be once a month as Kian is doing more sessions at nursery. Once nursery is full time the portage will stop. This is a lovely service, if you make use of it how you want. They generally have information of events happening and will loan out their toys if required.
Sunday 12 July 2009
Medical History
- Sep 07 Kian had blood tests taken at 8 months because of the unexplained development delay, this blood test was chased up 2 months later and the result was Kian had a deletion of the small arm of his chromosome 4. This is the condition Wolf Hirschhorn Syndrome. He also has a duplicate of chromosome 8 but we were told a deletion overides any duplicate.
- Jan 08 US Renal Area Scan /Ultrasound of kidneys and bladder - The results came back fine, though we have recently been told that Kian's kidneys should be checked yearly.
- Jan 08 Echocardiography - Kian's cardiovascular examination was "entirely normal". Echocardiograph was performed and as far as doctor could see, heart was normal. Kian had a normal ECG. At 13 months we were told Kian had a small heart murmur, this is something so small we should never have to worry about.
- Feb 08 Genetics at the Centre for Life - We have a fantastic genetic doctor, fantastic as in caring, positive and knowledgable. We were referred initially by our paediatrician, as he suggested we should get tested for the abnormality chromosome in myself or Craig, so that we could think about having another child to look after Kian when we are no longer here. We no longer see this paediatrician. Our immediate and main concern is Kian. Our genetic doctor told us lots of things, but with it being so rare and the children so different nothing was conclusive. We have saw Kians chromosomes and have his caryotpye der(4)t(4;8)(p16.1or2;p23.1). In May, myself and Craig had our blood taken to find out if we had any abnormality with our chromosomes, we felt ready to do this, and that having the test done was going to be for the correct reasons for us. Our doctor called us on such a sad week, he called saying he had good news for us. We were sad as my dad had passed away 3 days beforehand. How can you receive good news at such an awful time? Well, all our chromosomes are fine, basically it was just one of those things! We go back in 6 months.
- Feb 09 Seizures - The dreaded happened. I even dreaded this before Kian was diagnosed. Epilepsy or to see anyone have any kind of seizure is awful. Kian had his first seizure. I awakened to Kian making a quiet but terrible noise, he was fitting. I called an ambulance, though I admit I called Craig first who was working in London. I think I was in shock of this happening. The 999 operater was excellent and talked myself through it all. I have saw some seizures, all my family and friends know why, but nothing prepared me for this. It was nothing big or loud but our 1 year old baby was having a seizure. My friend came around, and was great. She was there when the paramedics administered diazepam to bring him out of the fit in the ambulance by then. I was trying to function to dress, I had to talk myself through simple instructions, this was 6am in the morning which is why I wasnt dressed. This seizure happened to be 11 days after his last routine injection. Later when I spoke to our GP, she looked it up and saw that in some cases this can happen. I was given midazolam to give Kian if he fitted again, if he fits for 5 minutes then we give him the medicine, which will bring him out of it. I did hope it was just a connection to the injection but Kian had more seizures. He had an eeg, which did not show anything conclusive. Eventually after more seizures Kian was started on anti epileptic medicines, the seizures do seem to be temperature related, but I think Kian was possibly having absences which lasted a couple of seconds before that first big siezure. At this moment of time Kian has been seizure free for 4 months. This is the longest time since they began. Another WHS parent told me of her child having grommets inserted seemed to decrease seizures. I think the grommets have helped Kian though it will be said there is no evidence of this.
- Apr 08 Ophthalmology - Kian went for a few appointments at the clinic at the RVI, Kian's vision is fine, but we will go back if we have any concerns.
- May 08 Hearing - We went to our local clinic to check Kian's hearing. It was not proving that his hearing was fine, but the doctor was unsure if it was to do with the fact he had to sit on our knee as he was not sitting independently. He had passed his hearing test in hospital before we left when he was born. He was referred to the Freemon for further testing. After 2 appointments, it was noticed that Kian had glue ear. We waited 2 months to see if it would disappear on its own. On the following appointment, Kian still had glue ear and failed his hearing test. In jan, we decided with a lovely doctor that because of Kian's difficulties we would try grommets, instead of leaving more time to see if it would clear up on it' own. His appointment eventually came through for March. Kian had a seizure the night before this operation date, he had been seizure free for 3 months, we phoned the hospital and they cancelled his operation. We then got a cancellation in April. Kian went in and had an anesthestic, I will be honest and say he was very distressed in having the injection. Whilst under he had the glue drained (there was a lot), grommets inserted, his adnoids removed and had a brain stem which tested his hearing whilst under anesthetic. Afterwards he was in quite a state, I think more because of the adnoids being removed. With lax muscles being a major issue, it takes such along time to recover from things. His brain stem showed his hearing was fine but not perfect. They took impressions for hearing aids whilst he was under, incase Kian needs them. Kian has had a further hearing test which has not proved too good, so we are now involved with a teacher of the deaf who is monitoring Kian. If he needs hearing aids then he needs and will have them, but he does appear to hear, so we need to find out more.
Wednesday 24 June 2009
The Diagnosis
Kian was born at 39 weeks. We were induced and had a pretty straight forward delivery, though I didnt think that at the time. He was 4lbs 15 born and had no noticable physical problems. He had to be encouraged to feed by bottle as he at first struggled with it. He looked perfect and I had never held something so precious and small. We went home after 5 days as Kian was feeding fine by bottle and unbeknown to us there was no other concerns.
Over the next 5 months Kian slowly put on weight and was making progress on the weight centile line. He was a pleasure but with not having any other children, myself and Craig did not see any delay, though at baby groups people would just say he was small and he would catch up. Our health visitor referred us to a paediatrician at 6 months. This was because he did not have much head control, and maybe she had noticed other things, but did not say.
On our first visit we were told that Kians development was behind, but the paediatrician did not feel investigations were appropriate just yet. Our next appointment was 2 months later where we were told the developmental gap had widened. Kian was 8 months at this time and had not long rolled for the first time and could not sit unsupported. His weight was slow but it was increasing slowly. His head circumference was quite small. We were referred for investigations. Kian had lots of blood taken and we were told that if we heard nothing back in 2 months then those tests were negative.
We went back to the paediatrician 3 months after the previous appointment. Kian had made progress but the gap in development was still increasing. There was also one blood test that had not came back with a result, this was going to be chased up. More investigations could be done but it could be that Kian had developmental delay with no other explanation.
We received a phonecall at home that night to say that the blood test that was chased up had came back with an abnormality. The paediatrician would not tell us the condition of what Kian had, as he said he wanted to find out more about it. He would visit us in 3 days time. He told us that there was no cure, no treatment for Kian but lots of support would be given. What we heard that day would lead our lives into a completely different direction to the one we anticipated. 3 days we waited to hear of wolf hirschhorn syndrome and how it could and would affect our little boy. We were told Kian may or may not walk, speech would be little or nothing, epilepsy occurs in over half the children and that he would never live independently. Also myself or Craig was possibly a carrier of the gene.
This feels such a long time ago now and so much has happened in that space of time. Life does not feel sad or worthless, though receiving the diagnosis was one of the most devastating times of our lives. We are very proud of Kian, he is developing, no matter how slow, he tries very hard, and has quite a personality. We do come across many challenges along the way but our family are strong enough to deal with what arises. Things could be so much worse and we appreciate that we have Kian and love him to pieces!
Over the next 5 months Kian slowly put on weight and was making progress on the weight centile line. He was a pleasure but with not having any other children, myself and Craig did not see any delay, though at baby groups people would just say he was small and he would catch up. Our health visitor referred us to a paediatrician at 6 months. This was because he did not have much head control, and maybe she had noticed other things, but did not say.
On our first visit we were told that Kians development was behind, but the paediatrician did not feel investigations were appropriate just yet. Our next appointment was 2 months later where we were told the developmental gap had widened. Kian was 8 months at this time and had not long rolled for the first time and could not sit unsupported. His weight was slow but it was increasing slowly. His head circumference was quite small. We were referred for investigations. Kian had lots of blood taken and we were told that if we heard nothing back in 2 months then those tests were negative.
We went back to the paediatrician 3 months after the previous appointment. Kian had made progress but the gap in development was still increasing. There was also one blood test that had not came back with a result, this was going to be chased up. More investigations could be done but it could be that Kian had developmental delay with no other explanation.
We received a phonecall at home that night to say that the blood test that was chased up had came back with an abnormality. The paediatrician would not tell us the condition of what Kian had, as he said he wanted to find out more about it. He would visit us in 3 days time. He told us that there was no cure, no treatment for Kian but lots of support would be given. What we heard that day would lead our lives into a completely different direction to the one we anticipated. 3 days we waited to hear of wolf hirschhorn syndrome and how it could and would affect our little boy. We were told Kian may or may not walk, speech would be little or nothing, epilepsy occurs in over half the children and that he would never live independently. Also myself or Craig was possibly a carrier of the gene.
This feels such a long time ago now and so much has happened in that space of time. Life does not feel sad or worthless, though receiving the diagnosis was one of the most devastating times of our lives. We are very proud of Kian, he is developing, no matter how slow, he tries very hard, and has quite a personality. We do come across many challenges along the way but our family are strong enough to deal with what arises. Things could be so much worse and we appreciate that we have Kian and love him to pieces!
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