We met up with the neurologist for the results of the MRI and EEG.  He explained to us that there was nothing unexpected found on the MRI, that on a whole it was normal.  Unfortunately it is the under development of Jess's brain that is causing her epilepsy.  This will never worsen however can also never improve.  All that we are able to do is keep her seizures under control.  He also advised that he wouldn't go as far to say that Jess has Lennox Gastaut Syndrome however more generalised seizures.  He confirmed that Jess is a perfect case for the ketogenic diet and that he would like us to have a phone consult in a month once we are certain that Jess is completely over the viral infection and we will then adjust her medication a bit.  We are fully aware of Jess's delay but it still makes us very heart sore to hear the words spoken out loud.  Jess was finally discharged from hospital last week Sunday as she managed 24 hours without a fever.  We were so grateful to get out into the fresh air, and it allowed us some time to take in Cape Town before our return to Joburg on Wednesday night.  We are extremely happy to say that we are now on day 8 with no seizures whatsoever.  We are still adapting to the new diet as the portions are tiny and very fatty.  We are so blessed that we had the opportunity to do this trip and thank everyone for their support, prayers and kind words.
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Jess was an absolute star on her first flight!  We were admitted to hospital on Monday afternoon and Jess started on a formula and oil to put her into a state of ketosis.  This is basically a state of starvation but without physically cutting out all food to achieve this.  The formula and oil ensure that the body makes more ketones than glucose so that she will use fat for energy rather than glucose.  We have to monitor her levels of both the ketones and glucose three times a day to ensure that she remains in the state of ketosis permanently.  Once she is in a full state of ketosis, we should see a drop in the frequency of her seizures.  Unfortunately, Jess has picked up a viral infection which has put a little spanner in the works as she was battling to keep any fluids down and the oil just made her gag.  She has now been placed under the care of a paediatrican who is also clued up on the diet and that will now be working with the dietican and neurologist until the infection has cleared.  Jess is currently very weak and tired which are symptoms of the initial phase of ketosis but the infection has also been a contributing factor.  Thankfully, Jess managed to keep at least half of her first keto meal down today so we hope that she is on the mend.  The neurologist has booked her in for an EEG and MRI on Friday afternoon so we should hopefully have better insight thereafter.
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We are so very pleased that we have made contact with a dietican based in Cape Town that specialises in the Ketogenic Diet.  I had such an inspiring phone consult with her two weeks ago where we discussed the benefits of this high fat diet in the prevention of seizures.  The only real side effect is hard work and we are so ready for that!  We leave for Cape Town on 4th March and Jess will be admitted to hospital down there under the care of a neurologist that will monitor her progress on the diet as well as the dietican.  Finally we have a postive outlook towards the prevention of Jess's seizures.  The Ketogenic Diet apparently works on the same basis as Diabetes where the body utilises fat for energy instead of sugar.  During the first few days in hospital, Jess will be put into a state of ketosis via a specialised formula and from there, the new diet will be introduced.
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Jess has been extremely lethargic again and she is still having more seizures that usual.  Her Paediatrician checked the levels of her medication to ensure that they weren't too high or too low however that came back normal.  We took Jess to her Neurologist and we have been told that Jess has a condition called Lennox Gastaut Syndrome which is characterised by the frequency and different types of seizures.  Reading up on this condition, it is noted that it is difficult to treat and can also contribute to Jess's developmental delay.  The dosage of her meds have been adjusted now to see if we can bring the seizures back under control.  We are going to monitor her for the next few days and refer back to the Neurologist if there is no change.
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Results of EEG 01/06/2012
 
A few days before Christmas we took Jess to her Paediatrician as she was lethargic and having more seizures than usual.  The Paed was concerned that either Jess was having more seizures that what we could see or she wasnt completely coming out of the seizures we could see.  Jess had an EEG done which identified that she was having different types of seizures consecutively without us even realising it.  She has now been placed on additional anti epileptic medication and all seems to have stabilised now.  Our Paed is trying to set up an appointment with a paediatric neurologist but we will have to wait until everyone is back from leave. 
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Thank You! 12/12/2011
 
We would again like to express our gratitude to everyone that has very generously supported our plight to get a diagnosis for Jess as well as the specialized equipment that we need to make her life easier.  To our friends and family, anonymous benefactor's and people that we haven't even met, we feel so blessed because of you.  We are meeting with the Orthotist again next week as her Physio Therapist has picked up a slight curvature on her spine.  Luckily it is only muscular at this stage and hasn't moved into the bone.  Jess 'will get a Thera Tog, which is a full body suite that she will need to wear for 8 hours a day to aid in correcting her posture and hip rotation.   
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We have received the final reports from our Gentetics Lab on the tests performed in the UK.  In short, it has been explained to us that females have two X Chromosomes, one active and one inactive.  The majority of female carriers of an Xp duplication would be expected to have the duplication on the inactive X Chromosome  thereby being phenotypically normal. Where the duplication has affected the active X Chromosome, females exhibit borderline to severe mental retardation, speech delay, EEG abnormalities, minor dysmorphic features and early puberty.  In order to confirm if this duplication is the cause of Jess's developmental delay etc., a further test is required to determine her inactivation status.  This test will need to be performed in the UK lab again. Our geneticist has recently resigned and Jess's file has been handed over to a new doctor.  We plan to make an appointment with her in the New Year to discuss the full details on the next test required.
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We collected Jess's new wheelchair today.  It is fantastic!  She is so comfortable in it and her posture is perfect.  We are so happy and grateful to have been blessed with the funds from the Potjie Cook off that enabled us to get her this chair, that was becoming increasingly more needed.
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We have received word back from our Geneticist regarding the latest blood tests performed over in the UK.  It appears that the micro duplication that was picked up in Jessica's sample could not be traced in neither mine nor Brendon's blood.  Therefore the defect is not genetic.  However, they now need to establish what genes are affected in order to confirm if this is the sole cause of Jessica's condition.  So we have a few more weeks of waiting ahead of us for the results but we are grateful that things are moving forward.  Jess should also be receiving her new wheelchair within the next week or so which we are so very excited about.
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On Sunday morning we got to go and visit Brian and Sally Moore who were the winners of Jess's raffle to hand over the prize vouchers.  Check out the photo's page for a pic  Thank you again to everyone for their support.  We are very happy to announce that a grand total of R8 360 was raised through this raffle.
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