Sophie Muchaidze – is already 6 years old with TSC (rare disease) Drug resistant Epilepsy. Autism. Mitochondrial dysfunction and Secondary Fatty Acids Oxidations problems (FAOD), due to wrong treatment by Keto-diet and incorrect treatment with drugs. Her epilepsy have got worst: from Complex partial seizures with secondary generalization, to Tonic-clonic with total generalization and her seizures increased from 2 seizures till over 12 seizures per day.
Sophie needed urgent medical check ups of metabolic dysfunction. Needed: TMS. OAT test, genetical test and other biochemical tests. Consultation with Geneticist and proper diet for her.
Since, 2017 February, she is on low Methionine diet and without any fats, which does not help any more and just increasing other problems. Without proper fats intakes It can causing , heart disease. De-mielinizacion and death. ((( Please help the little wonderful girl to survive and a little bit improve her life.
Further Surveillance and Tests are needed :
1)Brain MRI – where do have a lot of tubers and Subependymal nodules which can be growing to Subependymal giant cell astrocytoma (SEGA) . EEG as well. Neuropathologist consultation.
2) Heart ultrasound or MRI – to check how is her identified rhabdomyomas are, Electrocardiogram (ECG/EKG) -as has been diagnosed with Wolff-Parkinson-White (WPW) syndrome
3) KIDNEYS MRI – To check up of any possible tumors or cysts which may growing in kidney. Glomerular filtration rate (GFR) test.
4) LUNGS- High resolution computed tomography (HCRT) of chest,: Pulmonary function test. To check up of any possible tumors or cysts which may growing in lungs as well.
5)Abdominal MRI -as well (((
6)Complete eye exam with dilated fundoscopy to exclude Retinal hamartomas.
7) Panoramic radiographs of teeth.
P.S. Sophie is great warrior!!!
She is fighting with all of this since birth (already 6 year). but now your understanding and support are needed in order to keep the fighting. Thank you all in advance!!!
Please help Sophie at GoFundMe https://www.gofundme.com/f/medical-treatment-for-6-years-girl-tsc-epilepsy