December 2016 Family Spotlight: "SERBIA - JOURNEY TO SYNGAP1 DIGNOSIS"
Ena was born 20.02.2011. My happiness knew no bounds, I thanked God that gave me because I was desperate to. Childbirth has passed without problems, one received a score of 9. My dear, sweet, happy girl and I have a few days later arrived in a maternity home. Ena was a good baby, it's good food and sleep, was not payable. Cooed and laughed, even we thought it would be a real speaker. We enjoyed we have with one another and in one another. With 4 months Ena gets high fever and stay 5 days at the Department of Pediatrics in the Sombor hospital. All findings were normal, the diagnosis-virus. Then the doctor observes hipotonus at Ena and sent me to work with her exercises to reinforce muscle tone. Month after month, I realize that Enas motor skills delayed.
In the seventh month working UZ head and findings is clear. We go to the Institute for Health Protection of Children and Youth of Vojvodina Novi Sad and then receives a diagnosis of dystonia alia. The day hospital are recommended exercises and control terms. As time passes, it seems to me that the exercises are not very effective, and we go to private physiatry clinic in Novi Sad, where she was diagnosed with muscular hypotonia global. Treatment for parent training exercises (by Vojta and kinesis therapy) lasted 2 weeks and cost 500 euros. In addition to go privately and in child-psychologist another 250 euros for a two-week treatment. And so every 3-4 months. Progress, but it is very slow.
Ena sits alone without the support of only 11 months, but the first time he gets up alone in a crib with 14, not pronounced the words, sometimes chatting ma-ma, ba-ba, pa-pa. I am aware that something was wrong, but I'm starting to believe convictions of people (families, doctors, alternative therapists) that none of us are the same, not all have to grow and thrive as the maturing Ena will move forward, that it often happens in children "click" and began rapidly to make up for lost time. Hire homeopaths, herbalists, and I find myself exploring the many horror stories, but also those that give hope. But the real answer is no. I wonder if I'm wrong somewhere, whether it's affected me being physically attacked and injured in the 4th month of pregnancy, was supposed to be vaccinated, is my child a look askance, if someone brought the curse of bad luck. In the chaos of thoughts, become powerless.
May 2013. Ena begins itself to cross the distance of a few steps, and this gives me hope that finally freed and would soon jump, run, dance like all other children. However, it happens that the new unknowns. The walk with Eno hallway holding her hand. Suddenly, she curtsied and stay away from her head. Second, or new anxiety and fear overcome me. There is a feeling that only a mother can recognize-instinct that this is not a good sign.
In the coming days I notice that one sometimes gaze, occasionally glanced up and fluttered her eyelids. This new situation is not tiring or slowing down, but it became more and more every day, then several times in the day, the hour ... Again she did not want to walk without holding my hand, disrupted her sleep of the night would was often awake, sometimes irritable, daily rest is reduced to a half hour of sleep. In September 2013, twenty-one days we spend in Sutomore (Montenegro) with the famous healer who says she syrup based on propolis for cleansing the body of toxins, heavy metals, parasites. That's not brought a major shift, but there I met a friend who directed me to the religion and to whom I will be forever grateful for that. My anxiety and fear to turn away when I turn faith in God when praying for Enu becomes my life.
After several months we go to Novi Sad, and in a private clinic NEUROPRAXIS do EEG. When reading, the doctor reports that one does not have epilepsy and are probably tics or so attracts attention and manipulate. Also, seeing that the child is delayed in development, it is recommended that all the time to do. This was followed by a cardiologist, ENT, ophthalmologist and geneticist. All findings were normal, but one still blinking eyes at me and clones from time to time. In November we work, also private, because in state institutions waiting up to two years, MR head, where the results are again normal.
During the search for a diagnosis, a variety of defectological and physiatrist treatment, we visit the monastery of Ostrog, Beochin and other monasteries throughout Serbia, father of Joel, who is considered discerning and he tells me that this is a harmful effect of the vaccine. I'm still not satisfied with the answers and searching for a diagnosis. Thanks to the receptiveness of Sombor pediatrician Epilepsy Dr. Milan Arnaut, I manage to get to the instructions for inpatient treatment at the Institute for Health Protection of Mother and Child Dr Vukan Chupic Belgrade at the department metabologia and dwell there with Ena eleven days in December 2014. The EEG shows epileptorne changes and get a diagnosis G 40.4 (epilepsy). They were made in the analysis microdeletiones syndrome, Rett syndrome, lumbar puncture, metabolic screening blood and urine. All results are clear and the doctors advised me to give up the search for a diagnosis and go on with the physiatrist and special treatment. Since therapy, one gets syrup Eftil (valproat). When we come to the final dose, assaults, thank God, and cease from January 2015. Ena does not have seizures.
One time, the advanced stages have independent clumsy walk, but again uncertainty, understanding and interest were visible, dictionary, the richer the occasional new words. All this was the result of many treatments, as well as empathy and the fact that the Ena extremely accepted in kindergarten "Brownie" in Apatin where it all pay attention, they like it and are making progress. One is a favorite with children and teachers, and especially the valuable work of her own followers, first Tamara Mrdja, then Zoran Pavicevic who tirelessly, selflessly and conscientiously preparing countless activities and exercise Coarse and fine motor skills with Ena. I would also like to thank the extraordinary aid and Local Government, municipalities Apatin which funded additional support for children with disabilities.
Then come into contact with many parents on fb page Parents of children with speech and language problems, where I learned that in early 2015 adopted a law that allows Zoja's diagnosis and treatment of rare diseases abroad if the diagnosis is not set in Serbia. Here I learn and the effectiveness of the Russian drug pantogam who begin to use and gives excellent results. Also, I appreciate and thank bioenergy treatments that help Ena, and with it's done once a month wonderful man from Novi Sad Bela Varga. Again, go to the control examination by Dr. Adriana Sarajlija who proposes an analysis of the Barcelona-genome sequencing. Biological material for analysis isolate in December 2015, submit a request to us RFZO gets approved and the blood with IZZMD sent in March 2016. While waiting there, and the practice continues, and enjoy life, we hang out, we go on vacation, we travel, we look forward se. Ena of the wonderful, loving, loves singing and dancing, people and every day is becoming more mature and advanced.
In September this year we learned that the results arrived and explained that Enas condition found mutations in the gene SYNGAP1. Also, we advised on PKP2 gene mutation that points to the possibility of arrhythmogenic right ventricular dysplasia, heart, and go to the Institute of Cardiology at the time, which, thank God, revealed no pathological changes in the heart. Currently we are waiting for the heart to IZZMD MR. Regarding SYNGAP1 gene mutations, doctors in Belgrade could not say much to me, but I personally found valuable information and a group of parents of children with the same problem. In America, there is already a foundation that deals with research of this gene, as well as possible treatment for children with this mutation. What is encouraging is that Enas life is not in danger, as well as the functioning of vital organs. The days ahead are promising progress. As a mother who is single and has the absolute responsibility for the child, since I know the diagnosis, I dropped a stone from the heart. Now I know what hope and what research in the world and in our country to follow in order to facilitate the life of their child and, God willing, enabled her independence and progress. Following studies launched particularly in America, but I am in contact with Russian researchers, even in the field of wave genetic.
I urge all parents to not abandon the search for a diagnosis because it is the only way to know which way to go in order to help their children. I thank most Bojana Mirosavljevic that all of us struggle with their possible Zoja's Law and all that we have it enabled.
