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.