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.