Our Journey to a SYNGAP1 Diagnosis

Ena was born on 20.02.2011. My happiness knew no bounds; I thanked God for giving me her because I was desperate to have children. The childbirth has passed without problems;  my little 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; its good food and sleep were not payable. She cooed and laughed, even though we thought she would be a great speaker. We enjoyed what we had with one another and in one another.

After four months, Ena got a high fever and stayed five days at the Department of Pediatrics in the Sombor hospital. All findings were expected, including the virus diagnosis. Then the doctor observed hypotonia in Ena and sent me to work with her exercises to reinforce muscle tone. I realized that Ena's motor skills were continually delayed month after month.

In the seventh month, the MRI findings are clear. We go to the Institute for Health Protection of Children and Youth of Vojvodina Novi Sad and receive a dystonia diagnosis. The day hospital recommended exercises and control terms. As time passed, it seemed to me that the activities were not very effective. We went to a private physiatry clinic in Novi Sad, where she was diagnosed with global muscular hypotonia. Treatment for parent training exercises (by Vojta and kinesis therapy) lasted two weeks and cost 500 euros. In addition to going privately and in child-psychologist another 250 euros for a two-week treatment. And so every 3-4 months. Progress, but it is prolonged.

Ena sits alone without the support of only 11 months, but the first time he gets up alone in a crib with 14, he does not pronounce the words, sometimes chatting ma-ma, ba-ba, pa-pa. I am aware that something was wrong. I had started to believe the convictions of people (families, doctors, alternative therapists) that none of us are the same. Not all must grow and thrive as the maturing Ena moves forward. That often happens in children "click" and begin rapidly to make up for the lost time.

I hired homeopaths and herbalists and found myself exploring the many horror stories and those that give hope. 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. But the honest answer is no. In the chaos of thoughts, I felt powerless.

In May 2013, Ena began to cross the distance of a few steps, and this gives me hope that she is finally freed and will soon jump, run, and dance like all other children. However, it happens that the new unknowns. The walk with Eno hallway holding her hand. Suddenly, she curtsied and stayed away from her head. Second, 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 noticed that one sometimes gazed, occasionally glanced up, and fluttered her eyelids. Several times in the day, she did not want to walk without holding my hand, disrupted her night sleep, would be often awake, sometimes irritable, and did not get the needed rest days to a half-hour of sleep. This new situation is not tiring or slowing down, but it is becoming more and more every day.

In September 2013, we spent twenty-one days in Sutomore (Montenegro) with the famous healer who says she syrup based on propolis for cleansing the body of toxins, heavy metals, and parasites. That's not brought a significant 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 of turning away when I turn faith in God when praying for Ena become my life.

After several months we go to Novi Sad, and in a private clinic, NEUROPRAXIS does EEG. When reading, the doctor reports that one does not have epilepsy and is probably tics or so attracts attention and manipulate—also, seeing that the Ena had a delay in development. We continued to other specialists, a cardiologist, ENT, ophthalmologist, and geneticist. They recommended that all the time do. All findings were expected to be normal, but one still blinking eyes at me and clones from time to time.

In November, we also worked privately because in-state institutions waited two years for the MRI results. While searching for a diagnosis and a variety of defectological and physiatrist treatments, we visit the monastery of Ostrog, Beochin, and other monasteries throughout Serbia, the father of Joel. He is considered discerning and tells me that this is a harmful effect of the vaccine. Still, I am unsatisfied with the answers and continue searching for a diagnosis.

Thanks to Dr. Milan Arnaut, I managed to get the instructions for inpatient treatment at the Institute for Health Protection of Mother and Child Dr. Vukan Chupic Belgrade at the department metabolomic. I stayed there with Ena for eleven days in December 2014. The EEG shows epilepsy changes and gets a diagnosis of G 40.4 (epilepsy). They tested for microdeletions for Rett syndrome through a lumbar puncture, metabolic blood, and urine screening was completed, and the results are as expected, typical. The doctors advised me to give up the search for a diagnosis and go on with the physiatrist and special treatment. Ena does not have seizures. Since therapy, one gets syrup Eftil (valproate). When we come to the final dose, assaults, thank God and cease from January 2015.
Once, the advanced stages have a clumsy independent walk, but again uncertainty, understanding, and interest were visible; dictionary, the richer the occasional new words. All this resulted from many treatments and empathy.

Ena went to kindergarten "Brownie" in Apatin, where she pays attention; they like it and are making progress. She is a favorite with children and teachers, especially the valuable work of her followers, first Tamara Mrdja, then Zoran Pavicevic, who tirelessly, selflessly, and conscientiously prepared countless activities and exercised Coarse and fine motor skills with Ena. I would also like to thank the great aid and Local Government, municipalities Apatin, which funded additional support for children with disabilities.

I appreciate and am thankful for bioenergy treatments that help Ena. Then came into contact with many parents on the FB pageParents of children with speech and language problems; I learned that in early 2015 adopted, a law that allowed Zoja's diagnosis and treatment of rare diseases abroad and not identified in Serbia. I knew the effectiveness of the Russian drug pantogam, which began to be used and gives excellent results. It's done monthly by a beautiful man from Novi Sad Bela Varga. We went for an examination by Dr. Adriana Sarajlija. She proposed an analysis of the Barcelona-genome sequencing   Biological material for research isolate in December 2015 and submitted a request to us, and the RFZO gets approved. They sent the blood sample was sent in March 2016 for testing. While waiting there, the practice continues, and we enjoy life, hang out, go on vacation, travel, and look forward to seeing Ena of the beautiful, loving, loves singing and dancing, and every day is becoming more mature and advanced.

In September this year, we learned that the results arrived and explained that Ena's 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. We went to the Institute of Cardiology at the time, which, thank God, revealed no pathological changes in the heart. Currently, we are waiting for the soul of IZZMD MRI regarding SYNGAP1 gene mutations. The doctors in Belgrade could not say much to me, but I found valuable information and a group of parents of children with the same problem. In America, The SYNGAP1 Foundation deals with the research of this gene. A possible treatment for children with this mutation. What is encouraging is that Ena's life is not in danger, as well as the functioning of vital organs. The days ahead are promising progress. Following studies launched particularly in America, but I am in contact with Russian researchers, even in the field of wave genetics. As a single mother with absolute responsibility for the child, I dropped a stone from the heart since I knew the diagnosis.

Now I know what hope and research in the world and our country to follow to facilitate their child's life and, God willing, enable her independence and progress.

I urge all parents not to abandon the search for a diagnosis because it is the only way to know which way to go 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.