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.
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.
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.
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.
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.
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.
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.
We met up with the Geneticist this morning to discuss the results for the recent chromosome tests done in the UK. Apparently a micro duplication has been identified on Jess's X Chromosome. This was never picked up in either of the chromosome tests done here in SA however the Geneticist explained that this can be traced with the intensive laser test that was performed in the UK. All three of us had blood taken today. Firstly from Jess to reconfirm the results found and then from Brendon and myself to identify if one of us perhaps has the same defect which would verify if it is herediatory or not. Our samples will be couriered off to the UK shortly and we have to wait another 4 - 6 weeks for the follow on results. Finally, we have a new starting point and a renewed hope for some answers.
We have just completed the prize draw and we are pleased to announce the winner for the raffle is Brian Moore. Congratulations!!!! Brian has won the family photoshoot, a voucher for haircuts and styling for the photoshoot and spa vouchers. We would like to take this opportunity to thank our family and friends that assisted us in selling the raffle tickets and everyone to participated in the raffle by purchasing tickets. A very special thank you to our sponsors and especially to our dear friends Debbie and Duncan who were the masterminds behind the whole concept.
Due to Jess having to be admitted to hospital on Sunday, we had to postpone the prize draw. The doctor initially feared Meningitis however we were extremely relieved when the tests came back negative. The paediatrician put it down to a severe chest infection however Jess was discharged on Wednesday and is making a full recovery. We have therefore decided to hold the prize draw on Saturday 6 August. The winner will then be notified and announced here on Jess's site and on her Facebook page. We also have confirmation from the Geneticist that she has received the results back from the UK on Jess's chromosome tests. We are meeting with her on Wednesday to discuss the results and she has advised that they need to collect blood from all three of us. We sincerely hope that this means something was picked up in these last tests to assist in identifying Jess's condition.