The story of Pika Bindi
Living with rare genetic disorder EEF1A2 ~ Pika Bindi
Pika’ s representative card to EEF1A2 group
My daughter Pika Bindi is 14 years old and have diagnosed EEF1A2
chr. 20-Glu122Lys (from November 2016 when she was 9 years old). She has all clinical symptoms of the Angelman syndrome. She has gone through 7 genetically researches but not one of them didn’ t approve A.S. diagnosys also clinical signs. Genetically researches: FISH analise (15q11-q13), genetic analysis of E1a gen of pyruvate dehydrogenase-doctors suspected lactacidemia (because of index laktat/piruvat 41 – too much), SNRPN gene, UBE3A, CDKL5, CDG, ARRAY-CHG (ARRAY-COMPARATIVE GENOME HYBRIDIZATION), MECP2, MLPA, sequence of human exom, DNA.
As she was 7 years old she did her first independent steps. She doesn’ t talk but she has developed a wide range of facial expressions. She absolutely adores water. She suffered from insomnia up to her 3 years. She still has some sleeping disorders as many times. She stays awake at nights. She has also autistic trouble, senzoric…, at times/periodicly is also very agresive, she pulls my hair. She like music (especially quitar&accordion), books with pictures, communication books, songs, cartoons, ball game, animals, rottating objects, etc. She has still pacifier for better sleeping ☻
She’ s a very happy girl but can get also very emotional, she changes mood behaviour if she tired, frustrated… At the begining doctors suspected mitohondrical citopaty disease, Leigh syndrome, also Rett syndrome because of her rapidly rotating hands by movements which she likes very much.
We live in Europe, in Slovenia 💚
Beautiful regards from Pika Bindi&Lidija