Speech therapist etc..

I took Kendra to the speech therapist and basically she did not tell me a huge amount. Just some guidelines for feeding and said to stimulate the inside of the mouth with finger or baby toothbrush. She is very young, doubt she has kids of her own so I think it is a little hard to take advice from her. We'll just take it slow and see what happens.

Silly season is definitely upon us, I went to a book club lunch on Sat. as well as a Christmas dinner with friends, both of which were thoroughly enjoyable except for a bit of screaming from K. At lunch she decided to have a real screaming session which lasted about 45 minutes before she fell asleep. She always seems to do this when I don't have all her stuff with me, like Teejel, dummy etc. Not that she takes a dummy. Then at dinner she also had a bit of a crying session. Yesterday I found that her top teeth had started coming out which explains everything. Poor baby, she had good reason to cry!

I have a really, really sore throat, hope I am not coming down with something. Only 3 (maybe 4) sleeps before we leave on holiday. Just cannot afford to be sick now. Going to bed now, goodnight.

PS: Doubt there will be any more posts until we come back from holiday. Hope everyone has a great Christmas.

Doctor's visit

Yesterday it was Kendra's second assessment with Dr van der Walt, the paediatric neurologist. She is very happy with K's progress. She says that developmentally she is at about 5/6 months but she is developing in the right pattern ie everything is developing in more or less the right order. She now weighs 7kg and her head has increased by 3cm in size. Dr Grossfeld, the doctor in America who has made a study of JS children, recommended that she go for endocrine testing. I asked Dr vdW about this and she says there is no need to rush into it. Maybe we can rethink it when K is 1 year old, depending on her development. I am inclined to agree with her. Unless really necessary, I don't want to put K through having more tests. If there is anyone reading this with JS children, I would appreciate your views on this. Have your children been tested and if so what was the outcome?

I also mentioned to the Dr that K has been on solids for about a month now but she still hardly takes anything in. It just all gets pushed out again. She suggested we take her to a speech therapist. Apparently they can help with this sort of thing. So tomorrow I am taking her to one as we are going away on holiday in just over a week and I want to get this sorted out soon.

Kendra has also done 2 new things which we were quite excited about. The other day she grabbed her bottle and pulled it towards her. The first time she's actually reached for something where it was not just grabbing whatever her hands came across. Also she copied something Gathry did. He made a type of 'ba' sound with his mouth and she tried to pull her mouth in the same way. More than once! So exciting! The one thing which I don't really like which she does is she rolls her eyes. She sort of rolls them right back so you just see the whites of the eyes. She does this fairly often. Although in the last few days she seems to be doing it a bit less, unless I am imagining it.

The last month or so has been pretty hectic. Kendra has been to see someone different basically every week. It just seems like we are constantly going to some doctor or other. I sometimes wonder if it is all necessary, but I want to do as much for her as early as possible so that she has the best start possible. Dr. vdW has suggested we take her to someone else next year, a centre where they do special exercises for children with special needs. That will be once a month, so hopefully all we'll have to do then is that and physio which is also once a month.

What a pretty girl

Kendra and Branston. Having breakfast. With adoring brother again

Sitting in her bumbo

Aren't I pretty?

Kendra went for a follow up scan of her kidneys today. The doc says that all is ok, yayyyy!! She must go again middle of next year for her next checkup. I forgot to ask him if she must continue with the antibiotics but I know the answer will be yes. He originally said to keep using them till she was 1 year old. Apparently the positive effects (reduce risk of bladder infection) far outweigh the bad. She is on a very low dose.

Her constipation seems to be easing up a bit, but she is on 2 teaspoons of Laxette a day. I think her teeth are really bugging her, she is always rubbing her gums and chewing on her fingers(or mine). We are planning on having her baptised on the 18th December in PE. If anyone is in PE around then, give me a shout and you can join us.

Next doctor's appointment is on 5 December. We are going to see the pediatric neurologist for another assessment. Will keep you posted.

7 months today!

Happy 7 month birthday Kendra!!

On Sunday we went to the special needs group braai (barbeque for non-SA readers). It was nice to meet the children behind the moms in the group. I also met some new people I had not met at the groups. There were some children there who made me feel like we are getting off quite lightly, but maybe it is too soon to tell. I am going to start a blog for the special needs group as well so that they can all use it to tell their stories or just to share a special moment.

Today I took Kendra to the orthoptist (kind of eye doctor) again. She is the one who has made K wear a patch 3 times a week. She said she was thrilled with K's progress and that her eye is looking really good. We are to continue with the patch treatment until our next appointment which is on 14 Dec and then she may cut it down to once a week.

We are looking forward to going on holiday on 15 Dec so that the grandparents can see how big the children are now. Branston is also shooting up at the moment. By the way, he told me today that he now knows that there is no real Santa Claus and he is now giving his Christmas list to me so that I can start shopping! Apparently the teachers at school told them this but he says that he knew it in his brain because he is clever.

Physio

I meant to do this post last night but little madam Kendra had other plans. She decided it was a good night to keep me busy till 11pm. Shame, I think her teeth are bugging her not to mention her tummy. She still seems to be a bit constipated. Tonight she wanted to stay up but she was in quite a good mood, full of smiles. I let her fall asleep on her own in the pram. She is really developing a little personality now. She is starting to vocalise quite a bit now. Sometimes she just shouts, that is the only way to describe it. It is not a cry or a goo or ga but a real shout, but not an unhappy one. She is also laughing a lot more now. Only problem is every time she laughs she gets hiccups!

We went to the physio last week and she is very happy with her progress. Kendra behaved herself for most of the session, Petro even got a smile. But of course it had to end as Petro kept putting K on her tummy and that is one position she does not like. Petro says that her head control is very good now, she has almost caught up to her age group. She still does not move around much. We have to try and encourage her to roll over and also to touch her feet with her hands. We are going back there next week for our last session of the year.

We have a few other things lined up as well. Next week is also the next visit to the orthoptist to have her eyes checked again and see if the patch has helped. The week after that is a follow up scan to check on her kidneys and then in December another visit to the paediatric neurologist for an assessment. We are looking at going fully comprehensive on our medical aid next year. At this rate we will be needing it.

And the young lady is really getting into her solids now. We are giving her porridge in the morning (rice cereal) and she is getting most of it down though still pushes a lot out with her tongue. I think that she is starting to realise that this is food we are shoving into her mouth. Though I think she just likes to chew on the spoon as she really clamps down on it if it stays in her mouth too long. And those little teeth are really sharp! I don't know how they don't hurt their top gums when they only have bottom teeth. She sometimes bites my finger when I rub her gums (she likes me to do that) and I end up with serious toothmarks on my finger.

Branston is still very happy with his little sister. He can't tell her often enough that he loves her. I worry sometimes that he will get jealous because lately he seems to get into trouble so often. Maybe he is looking for attention as he is constantly doing things he should not be doing and I feel like I spend my life shouting at him, then turn around and coochy coo to Kendra. Poor Kendra sometimes gets the short end of the stick now as I don't like to chastise him and then immediately go gaga over her in front of him. So she sometimes has to wait a little for her bit of attention.

This Sunday is family day for the special needs group. I am quite looking forward to that. It helps I think to see the children who are the reason for people belonging to the group so that one can get a better understanding of their situations. I have already met some of the children but there are still moms I have yet to meet as not everyone can usually attend the meetings. Gosh but this was a long post! See what happens when I do not post regularly. Best I make time to do this more often.

Feeding habits

I took Kendra for her 3 month vaccination today (bit late) and she was not impressed. Firstly she was woken up from a nice sleep to go to the clinic and then we started messing with her. She let us know in no uncertain terms what she thought of that! I had to feed her eventually to calm her down.

Speaking of feeding, she has been on Infasoy for about 2 weeks now and it is making her terribly constipated. We started off on S26 but that seemed to give her quite bad cramps then I changed to Nan. It went fine for a while but then the cramps started again so I thought that she might be allergic to dairy, hence the Infasoy. That started off very well but now she is a bit crampy again. Sister Sue says it is probably the constipation and suggest we stay on the formula but give her other liquid as well, like boiled water or Rooibos tea. I have also been giving her Duphalac dry which she says I can continue. Anyone out there with advice on how to sort out constipation?

Some good news

Kendra with her patch on, with Granny and just looking pretty.

Kendra went for an eye examination today under anaesthetic. She would not hold still for the doctor to get a proper look into her eyes so that had to get her to sleep for it. Such a palava (is that a word?) just for 15 minutes of looking into the eyes. She had to go without food for 6 hours beforehand which meant no breakfast for her as we had to be at the hospital by 7am. I must say I was dreading it but she was a perfect angel. She woke up at 5:30am when I got up and just lay there sucking her hand. She did not even cry when I moved her to the car seat or going to the hospital. The first time she cried was when I had to undress her and the nurse tried to put an armband on. The indignity of those hospital gowns! Anyway the doctor did a thorough exam and said that the optic nerves are fine and that she will not need to wear glasses just yet. They can tell this from an eye exam. So her eyes are ok, just need to work on that lazy left eye. The ptosis (left eye that does not open properly) is something that they would only consider correcting surgically if the lid covered her pupil completely which it does not. Apparently it is a very difficult op. Luckily she will not have to wear glasses as I don't think she would be able to with her funny little ears. They are tiny and very flat on her head.

Other news, the boob is out! Kendra officially prefers the bottle. I have been thinking long and hard about continuing to breastfeed. On the plus side, it is very good for her immune system and for preventing constipation(big plus). It is also very easy and convenient esp. in the middle of the night. On the negative side she has teeth(big minus), there is the leaking and discomfort, and did I mention she has teeth (BIG Big minus) and she's not afraid to use them. And since I stopped taking the Espiride(milk producing tablets) I am not such a good milk cow as I used to be. I also plan on starting her on solids this weekend. She seems to have settled well with the change of formula, no more bad cramping. Although she does seem to get a bit constipated now. Every day when the nanny comes on duty first question is 'Did she poo?' and when I get home it is my first question to her! Amazing how interested one can suddenly become in the subject of poop.

We have physio again next week. The nanny is not happy about it, she does not like anyone who makes Kendra cry!

Thank you to those who have commented. It is nice to get comments and see who is reading the blog. If anyone has anything to say please feel free to comment. Besides family and friends (always nice to hear from you) it would be nice to hear who else has read the blog and is interested in Kendra's story esp. if you also have children with JS. I put the blog into the 11q website so hopefully more people with 11q children will read it.

Busy busy busy...

I have been feeling really bad for not posting anything for so long but life has been hectic.

Therefore you find me in front of the computer on a Sunday night when I should be in bed.

See Kendra in her party dress on the left. Also a pic of her and her nanny, Bulelwa. Week before last on Thursday we took K. for physio again. I especially planned it so that she had already eaten and would not scream from hunger as she did the previous time we went. But 5 minutes into our session the physio stretched K's leg and I think she hurt it so K screamed non-stop for the rest of the session. The nanny, who came with, was not impressed. She does not like the physio! Eventually K was handed over to Bulelwa to pacify while the physio showed me the remainder of the exercises on a doll! Besides the leg stretches we now have to also try and exercise her arms by opening her hands and putting pressure on them. She must also spend more time on her stomach.

Last Saturday was a busy day. In the morning we went to Connor's birthday party. Connor is a very special little boy who has Mytochondrial disorder. He turned 2 and a lot of the people from the special needs support group were there. It was nice to see the children so now when the moms talk about their kids in the group we know what they look like. Makes me realise how lucky we have been so far with Kendra. At least she does not have to have stomach tubes or anything like that. After that party was my sister's birthday party at her place. Amazingly K eventually slept through some very loud music. It was a good party. The next day we went to another birthday party. This time it was Peter who turned 1 year old. Kendra looked very cute in her little party dress.

Yesterday we had yet another birthday party to go to. This time it was Catherine turning 4. Branston had a ball as there was loads for the kids to do. Kendra was a little bit miserable as she has been very crampy lately. I thought that changing over to Nan formula had sorted out the cramps but yesterday afternoon and evening she had them really bad. I bought some Soymilk formula today. Maybe she is sensitive to dairy. If it is still bad tomorrow then we are off to the doctor. Yesterday afternoon I went to a craft afternoon (after the party) at Fiona's place. I belong to this time out kind of club called KKC (Kit Kat Club) and every month we do something, just the girls. This time everyone took some sort of craft and showed the others how to do it. I did not do much as Kendra was not happy and did not want to go to anyone. Poor Janine, we gave her a hard time as she tried to look after K for me so I could do something but K kept crying so Janine got teased for making the baby cry. K was much better today so hopefully this week will also be ok. She kept me up last week 2 nights in a row which is most unusual for her. Wed. night she kept throwing up, could not keep her food down and Thursday nite she was crampy again.

We are supposed to be taking K to hospital to go under anaesthetic so that the eye specialist can take a look at the optic nerves on Weds this week but I may cancel as Gathry may be going to Joburg. I don't really want to take her alone. The worst part of it is that she is not allowed to eat for 6 hours before and it is in the morning so she will wake up and be hungry. I will keep you posted.

Baldilocks

First pic above is Kendra at 10 days, 2nd is her at 3 months in the same basket. I must still take a picture of her now in the basket. She is much bigger now.

Kendra is losing all her hair! All she has left is a few long hairs here and there as well as a ring of hair by her neck. Hopefully the new hair does not take too long to grow. We have been putting her patch on every second day and you can see an improvement for a while after you take it off, then it goes back the way it was. So I suppose the longer we keep doing it the better it will get. She really hates the patch though. She keeps rubbing her eye with her hand. This is actually great to see as it means that she is developing her coordination quite well.

She went for her vaccination yesterday and was really good. Hardly made a squeak even with the burny one. Tomorrow we go to physio. Branston had his 7th birthday party on Sunday. Hectic!! Not going to have another party at home for a while. No, it was not too bad. I had some help. Thanks to Janine, Lucy, Fiona and Cindy for entertaining the kids. Kendra basically slept through the whole thing. She practically slept the whole day. I think she was making up for Friday night when she kept me up till 1:30am. I thought she was suddenly developing colic but it seems it was a reaction to her formula as she is much better since I changed it. She is having 2 bottles of formula a day now which are apparently producing some very messy nappies. Luckily she has so far saved the worst of it for the nanny.

One-eyed Jack...

Kendra went to see an orthoptist today. This is someone who specialises in the muscle control of the eye. Or something to that effect. She had a good look in Kendra's eyes and K cooperated a bit more this time so allowed her a better look. Plus she had some squeaky toys for K to look at. K has to wear an eye patch! The doc still wants the other specialist to look at K's eyes under anaesthetic just to rule out any major problems but she reckons that the eye patch should help to strengthen the left eye. She has to wear it on her right eye 3 days a week and we must go back for a check up in a month.

Kendra does NOT like the patch one bit! She rubs her eye, either with her hand or against me. This in itself I consider progress as she would not have done it a few weeks ago. She has also found her thumbs and she now has a thumb in her mouth a lot of the time. Her neck is also getting much stronger.

Some old pictures

Some pics of Kendra between 0 and 2 weeks old.


Kendra and big brother Branston. Kendra a bit older.

Kendra and Oupa.

Kendra and Branston with Oupa, Ouma, Chelsey and Kayleigh

Eye doctor

Today we took Kendra to an opthalmologist, also known as an eye specialist - Dr Ancker. Kendra was not all all keen to have somebody messing with her eyes. She was very wiggly and every time the doc tried to hold her eye open (and this was the good eye) she rolled her eyeballs back. The doc put some drops in to make her pupils dilate but she still could not get a good look at the nerve in the back of the eye to see if it is ok. She says that because Kendra does focus a lot of the time that we should just give it a bit of time, rather than putting her under a general anaesthetic, which is what she will have to do to get a good look at the eyes. The doctor also said that we must watch to see how much of K's left eye's pupil is uncovered whenever she is awake. They would only operate if not enough light reaches the eye. Apparently the operation to correct the ptosis is very difficult and they normally only do this when the child is in their teens unless it is absolutely necessary. She said we must take K to see a lady who will have a look at the eye muscles around the left eye (the one with ptosis). So that is scheduled for next week. The week after that is another visit to the physio.

These doctor's visits are draining our medical aid. I think we need to change to a more comprehensive plan.

K's big brother Branston is reading this over my shoulder as fast as I type it. His reading is getting very good. He will be 7 years old in a week and a half. Very clever boy although he is a bit hyper lately. His dad stayed home to spend the holidays with him. But the weather has not been that great so they haven't been able to do as much as they had hoped. (Very difficult to type with someone reading everything out loud as you type)

5 months old already!

Posted on 26.09.05:Kendra was 5 months old on Friday. Can you believe how time flies? We have an appointment with the eye specialist tomorrow so hold thumbs that it goes well and no more ops are required.
We got a few giggles out of her the other day. And she sometimes 'talks' so nicely. It is great to see signs of 'normal' behaviour or rather age appropriate behaviour. We went back to Dr Brown today for a follow up visit (he did the op on her bum) and he says it looks great. We just have to watch that she doesn't get constipated esp. now that she has started on formula. Yes, she has started 1 bottle of formula a day although according to the nanny she refused breastmilk (I express) on Friday so she had to give her 2 bottles of formual. Hmph! Mommy not good enough now that we have a taste for something obviously yummier. Weekend was ok though. I took her and Branston shopping and I gave her a bottle in the restaurant where we had lunch. She was ok with the boob at her next feed so maybe it's just breastmilk in a bottle that she doesn't like.

Doctor's visit

I just switched over from another blogsite so the next few posts are copied from that.
Entered on 22.09.05:
We took Kendra to see a paediatric neurologist today for an assessment. Our normal paed said we only need to take her for an assessment at 1 year of age but after doing some research and speaking to moms of other special needs children we decided to take her now. I am also concerned about her eye. Anyway, Dr van der Walt was lovely. She got a full history from us and did a thorough examination. She says Kendra still has the muscle tone of an 8 week old but in other ways, like her 'talking', she is more developed. She responds to us talking to her and smiles quite a bit now. She will need to continue with physio regularly.
Dr van der Walt also wants us to take her for a skull xray, although this is not critical, just to give her an idea of whether the skull is fused on the side. It won't affect her too much if it is maybe just her head shape. She weighs 5.2kg now, more than double her birth weight. The dr also says that she may take longer to walk than a normal child but she will walk eventually. All in all, I was happy with the assessment. The doc wants to see Kendra every 3 months to start with and says I must send her any info I find on JS. It is so nice to have a medical professional take an active interest in her condition. The geneticist at the Red Cross hospital had not even heard of the syndrome but did not even show an interest or ask us to bring her back at any stage.
Re comment to my previous posting: thank you for your comment. I think the 'failure to thrive' stems from any health problems they may have such as the problems with eating/swallowing.
Kendra has a big brother Branston(6) who is very proud of his little sister and who will also be featured quite a lot on this blog. Branston does not yet realise that there is something different with his sister, I think we will explain more when it becomes more noticeable. I am just thankful that I left such an age gap as I think it will be easier to deal with Kendra's special needs having a more independent sibling.

Hello

This blog is aimed at family and friends and is just to keep everyone up to date about Kendra's condition, but for the sake of anyone not already familiar with her, I will give a bit of the history behind it.
Kendra Meiring was born on 23 April 2005. She weighed 2.5kg and arrived 5 weeks early. She is a real fighter and was out of high care within a day. Our paediatrician advised us to have chromosome tests done as he thought that she might have Turner Syndrome. Before that could happen she had to be readmitted to hospital with a bit of jaundice and an infection. She was in hospital for a week and lost quite a bit of weight. We also discovered that her blood count was dangerously low ie she was a bleeder. I had to take her back for a full blood count after about a week so I asked them to do the chromosome test then. After a week our paediatrician asked myself and my husband to also go for chromosome tests. This was a sure sign that something was not right. After another week we went in to see her (Dr De Waal) and she gave us the news that Kendra had Jacobsen's Syndrome(also known as 11q-). This was obviously a bit of a shock to the system and it has taken quite a while and a bit of research for it to sink in. Please see the attached leaflet on Jacobsens for more info about the syndrome.
Kendra has the following characteristics of the syndrome:

• First of all, she does NOT have a heart condition, thank goodness
• Low blood count (this seems to have become normal as per the last blood count done)
• Kidney problems: she has a double kidney on the left side, but this is apparently functioning normally so no operation is required.
• Problems with digestive system: she is sucking without any problems (another blessing) and only problem was a malformed anus which was surgically corrected 3 weeks ago.
• One eye does not open properly - called Ptosis. I have to still find out if this needs to be surgically corrected
• Her head is still quite floppy for 5 months but is getting stronger daily.
• Apparently her muscle tone is quite tight and we have been to the physio to get stretching exercises
• Her ears are also slightly malformed - they are a bit small and low
  

These are the things we have picked up so far but we are not sure how she is going to develop. I have looked up info on the net about the syndrome but there are so few cases that it is hard to tell how it will work out. Up to today we had not heard of another case of JS in South Africa but this morning a colleague said that he had heard of someone in Cape Town at dinner last night. Hopefully they can put us in touch with them.
Kendra's breakpoint on the chromosome is at 23.1 which by all indications should mean that she would get the worst of the symptoms, from what we have read. If there is anyone out there who knows better we would be really happy to hear from you. I have read and heard about children with a break on 23.3 who only walked at 5 years of age and had to be tube fed for their first year. However Kendra is feeding so well and is starting to respond so nicely to us that we have hope that maybe she will be the exception to the rule. But I am not expecting miracles and we will take each day as it comes.
I would love to hear from anyone out there who knows someone with JS and would like to correspond with us. I have joined a support group here for parents of special needs children but they all have different conditions eg mytochondrial disorder, cerebral palsy etc. I will be updating this blog regularly with updates but don't expect daily updates as I do not have loads of time, being a working mom and all.
More info on Kendra and her brother and some more photos to follow.

Kendra

Welcome to Kendra's world

Kendra is my 5 month old daughter who has Jacobsen's syndrome. This is a test post to see what the blog looks like.