Turkish kızım elmas 8 aylıkken gözlerde dengesizlik ve dalmalarla baslayan nöbetler basladı.15 aylıkken yürümeye baslayınca denge kaybı,yorulma,halsizlik,dıkkatkaybı ve gözlerde haraketlılık olmaya basladı.mıyoklenıkastetık epılepsı tanısı kondu ve lumınatten.depakın,rıvotrıl,convulex,lamıctal,trıleptal,kortızon,kepra,sıbelyum gıbı epıleptık ılaclar aldı.hic bırının faydasını görmedık.25\05\2009da bos sıvısından glukoz transport defektı tanısı kondu ve ketojenık dıyet tek tedavısı dendı ve basladık.bıraz faydasını gördük ama gec teshıs ve convulex adlı ılac hastalıgımızı tetıklemış!dyet ıcın ketocaal adlı mama almamız gerekıyor ama maalesef getırtemıyoruz.cünkü hastalıgı kımse bılmıyor.dr.lara ben anlatmaya calısıyoru bıldıgım kadar.DİKKAT>BU HASTALAR YEŞİL CAY,CİKOLATA,COLA,KAHVE,ÖMÜR BOYU UZAK DURUN.cümkü hastalıgı tetikliyormuş.kızım 15 yasında ama sözel zeka yası 10,el becerı yası 5 yas cıvarında.lütfen bırbırımızı bılgılendırelım cünkü dr.lar bıze dogru bılgı vermedıler,bır bıgıde alamıyorum.herkese allah yardım etsın saygılar English translation When our daughter Elmas was just 8 months old we were able to see imbalance, vision problems and seizures that began with what appeared to be daydreaming. By the time she was 15 months old and walking, we could clearly see that she was having difficulty with balance, fatigued easily and could not concentrate at times. She was then diagnosed with myoclonic astatic epilepsy and took a number of medications including valproic acid (depakenr, convulex), clonazepam, luminatten, lamotrigine (lamictal), oxcarbazapine (trileptal), cortisone, levetiracetam (keppra), flunarizine (sibelyum), unfortunately none of these medications worked. Her diagnosis was then changed on 05/25/2009 to a glucose transport defect and she was placed on a ketogenic diet. She responded with moderate improvement compared to past treatments, unfortunately the valproic acid she had taken did more harm than good. We were also unable to obtain the formula called KetoCal that she should be taking since it is not available on the market (in Turkey). It is difficult getting treatment for her since it is not a well known illness and doctors are unfortunately not as knowledgeable on the subject. Please pay attention to not give your children any foods such as green tea, chocolate, coke and coffee since they seem to exacerbate this illness. My daughter is now 15 years old yet her vocabulary is at that of a 10 year old and her hand eye coordinatation is equivalent to that of a 5 year old, all because we were unable to diagnose her early on and provide her with the care she has need. Let us please try harder to inform everyone out there especially the physicians. May god help us all, respectfully yours.