SYNGAP1 Patient Stories
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She started getting fevers when she was three weeks old. Her first struggle with pneumonia was terrifying, but we got through it. At six weeks old, she developed RSV, which is very dangerous; we also got through that. She had a sensitive stomach and developed gastric reflux. She was very sick for the first year of her life. I remember watching her breath to know she was still breathing – her retractions were severe. We went to specialists; she was diagnosed with failure to thrive, which means something is wrong, but we can’t figure out what. We spent most of her first year in and out of hospitals. Lizzy was mostly connected to IVs when she should have been walking. I figured it was because she was so sick; she just couldn’t. Never did I imagine her development would be so far behind.
She had been diagnosed with CF, failure to thrive, chronic lung disease, eczema, rhinitis, sinusitis, gastric reflux, and then came the Chiari malformations, asthma, hypotonia, dysphagia, and autism. She had to have a port placed, and after three weeks in the hospital, then released. She continued to have IV medicine for another month through the port, but she was home and gaining weight. I started to take her to Texas Children’s Hospital in Houston. We are from Los Fresnos, Texas, about six hours one way, but I would go anywhere for her to get the best medical care.
We saw Dr. Pitocki, a brilliant doctor (I love her, by the way), who ran the WES test: whole exonerated sequencing. The results took a while, but I was at work when I got that call. “Mrs. Sedlachek, we have news on Elizabeth; results show she has a de novo mutation in an infrequent occurrence. She has Syngap1 deletion; she told me there is NO CURE; this causes epilepsy, mental retardation, and autism and is the cause of her hypotonia and global delays. We don’t know very much about this gene. I asked, “Will my baby ever be normal? Will she ever speak?” I had no answers for myself; I could not breathe and cry hysterically. I couldn’t live. I locked myself in the bathroom at work; I hit the floor and texted my boss to come to the toilet. She rushed over; I told her about the phone call; it was not a good day.
Shortly after, I found Monica Weldon, and she took me under her wing. A stranger treated me like she had known me forever. God bless her for that because I needed hope. Then after you think, nothing else can go wrong. Here come the seizures, epilepsy. There are many unanswered questions, more surgeries, more tests, and more labs, but it’s easier to know you’re not alone. Lizzy is now 5; praise God she made it past three. We continue to fight daily to re-build every skill she has lost; she regressed a lot after a seizure or High fevers.
I want to take this moment to thank the families in the group for their support. Jessica Carmona always helps me if I have questions; she is also another angel to me. Monica, I would not even know without you, the Bridge the Gap Foundation, and all those with Rare Science. Dr. Musso, Dr. Vece, Dr. Rocco, Dr. Elizabeth Hernandez, Lizzy, and I would not be here if it weren’t for your care. Dr. Ringheanu, Dr. Norowski, Dr. Dowdel Smith, Dr. Potocki, Dr. Rochelle Sexton, Dr. Ayres, Dr. Holder, and Dr. Onsongon, to name a few. Lizzy has a substantial medical team, and I thank God for all of them.
Thank you for reading Lizzy’s story. Her journey isn’t over yet, and the unconditional love and devotion we have for our kids will never break; as long as there is hope, we will get through this. Lizzy is a fighter, and she is the light of our lives, always smiling even when on IVs. Thank you for your prayers and support of this fantastic foundation. And thank you to my family that carries me when I can’t keep going on my own; God bless all of you.
John was quiet in the womb. Induced birth due to a pregnancy condition, making John possible to die any time after 37 weeks; he was already 39 weeks. John had a quiet cry, didn’t fuss, had a healthy weight, and loved being cuddled and content. So content that he didn’t even cry, didn’t try to eat, didn’t poop or pee, just slept. After a couple of worrisome days, he e lost weight at his follow-up appointment. We had to force-feed him a bottle to get him back up to standards. You could hear it hitting his stomach. John started to live after that; he smiled and laughed a lot and loved his baths and cuddles.
Along with the failure to thrive, John experienced global delays. His pediatrician at that time said not to worry, and every child grows at their own pace, family member and friends also comforted our worries, but we still felt like something was off. John couldn’t operate his muscles like a typical child. We must teach him every aspect of moving and processing things that come naturally to specific children. His coordination was not regular. John couldn’t hold his head up until he was four months old. At six months, he finally rolled over; at 13 months, he sat up for the first time; at 15 months, John brought tears to our eyes when he crawled for the first time. A month before John’s second birthday, he hit a milestone that, at one point, we weren’t sure we would ever see – John walked. Those first steps ignited the wildfire of hope that has become our compass through this battle against disability.
Lacking motor skills wasn’t John’s only hardship. John has a Sensory Processing Disorder. He would overstuff his mouth when eating or chug multiple drinks, mush his food instead of chew, and couldn’t recognize temperatures of hot or cold, he had a very high pain threshold, so when he hit his head, he wouldn’t even whine. John’s comprehension was minimal; you could call his name but wouldn’t look. He didn’t know any commands and didn’t understand fear. He was regressing in some areas, which we had to reteach. John started to babble and made some noise but then stopped. At age 3, he has yet to say his first word.
Through all these trials, John remained the happiest little boy we knew. He had a powerful love for water and music. He also loves motion, riding on tractors, the lawn mower, side by sides, stroller rides, etc. John was a content, happy, cuddly little boy. Then he turned 2. John started to have meltdowns and became aggressive. He would be satisfied, and content and suddenly throw this toy or drink, scream, plug his ears, and try to bite you. He would use your hand and show you what he wanted and when you grabbed it, he would shove it away and point to it again. We were constantly confused. He would terrorize the house since he didn’t play with toys or watch TV. He would empty all the drawers and spread them across the house. His body never slowed down. Even at night, John is still restless. John started to have a tough time falling and staying asleep, waking up for hours some nights.
We contacted our local school and started PT and OT when John was 11 months old. The therapist then pointed us to a specialty hospital for further investigation of John’s condition. There, they looked into cardiovascular functioning, did an MRI, assessed his metabolic functioning, and put orthopedic braces on his feet, which he still wears. After almost a year of no answers, we decided to go to the Mayo Clinic. They ran an EMG (Muscle Test) and a genetic test. At age 2 ½, John was diagnosed with Mutation Syngap1. The doctors had nothing to tell us. They didn’t know anything about it, except that it is scarce. We thought we would finally get answers and have some guidance in helping John, but instead, they gave us a diagnosis with no history. We felt happy to have reasoning behind his symptoms but still no help or answers. There was no guidance and no expectations of what could come next. After doing our research, we found the Bridge the Gap Foundation, which consisted of less than 100 other families worldwide with children like John. They provide us with hope, confidence, and advice. We would truly be lost without the other Syngap families worldwide with experience and going through the same thing we are.
Now, John is three but mentally, emotionally, and physically at a one-year-old level. John continues to improve. As of now, he is still nonverbal, but we are starting to teach him communication through an AAC Device; however, he understands more than he can express. John also has seizures, intellectual disability, autism, hypotonia, sleeping problems, Sensory Processing Disorder, Apraxia (nonverbal), Aggression, Anxiety, and constipation, and loves Mickey Mouse Clubhouse. He mainly likes me, his mother but is learning to accept other people into his life. He is very grabby, needy, and slowly learning to accept denials. John recognizes places by specific objects. He loves water and musical instruments. John has no fear and will climb super high without even considering what happens next. He adores his little sister, two years younger than John, learning by observing her. At times takes his frustration out on her at times. But she handles it very well. John is always sensory seeking and enjoys going for walks and sliding down slides on his belly.
Anything can go wrong with John’s body, and we must try and catch it to help him since he cannot point yet or indicate something wrong, just through his behavior and mood. He will have a long, tough road ahead of him filled with lots of standard therapy and countless doctors’ appointments. We didn’t imagine the life we live, nor do we ever wish another child or family to go through this. As parents, we feel helpless and guilty. Our biggest fear is ‘What kind of care will John get when we cannot care for his needs anymore?’ We take it one day at a time and sometimes one hour at a time, knowing that this too shall pass. As his parent, I know that we can give John the life he deserves with persistence and resilience.
At around four months of age, I noticed that Sammy sometimes did not reach and grasp things as expected and stared into space. People would ask to hold him as he was so cute. Still, a few minutes later, he would be passed back to me with the question of happy, hungry, tired, or ill? "He's so wiggly, and I don't know how you do it?"
The staring of others during the endless crying while trying to settle and cuddle my raging child was hard to cope with during those times. Sammy was as stiff as a board, arched in the shape of a banana, between the crying.
I can only describe the dawning of knowing that there is something amiss with your perfect baby as a dark and chilling shadow that whispers into your ear. Only to speak out loud to loved ones and hope for the "professionals" to arrive. Our heart doesn't want to believe it, but your gut knows the truth. Our wrestling with this until you can no longer deny it.
We knew there was something very different about Sammy, but what? We noticed and reported a lack of development, the stressful and impossible crying, appointments, assessments, poking and prodding, traumatic drawing of blood, and medical tests. After the examination for terrible, devastating conditions returned negative, Sammy continued to miss every milestone. The next few years are now a sleep-deprived stress-induced blur; I call them the dark days.
I'm not sure if I had not grasped the magnitude of the situation or if I was holding onto the hope that somehow things would get more accessible, we would get some answers, and go from there, but for a long time, I did not cry.
Until one day, after a much anticipated pediatric appointment, I was looked in the eye and told straight.
"He will not catch up."
I remember staring back, glaring, hyperaware of the clock ticking and that I wasn't responding. It hit me like a train. Sammy was severely disabled; the doctor couldn't tell us why. The gap between him and his peers was becoming a chasm.
I had suspected Sammy had epilepsy for a long time. When he developed atonic drop seizures at three years, my fears took him more seriously than before; a second EEG test followed his second diagnosis. The news utterly destroyed us; things were getting worse, not better! However, we could commence anti-epileptic drugs, which thankfully and luckily worked gradually with the first drug we tried. So Sammy's overall development and distressed screaming improved a little.
I now believe he was having seizures from a very young age, and my concerns early on were correct.
Since tests started with Sammy, I have spent many hours researching the internet. Doing what I now amuse myself by calling "shopping for syndromes" involved researching every possible known syndrome to see if they matched Sammy's symptoms; so many did, but not quite. I pestered the pediatrician to test for them. I asked him about the DDD study as it seemed most likely that Sammy's differences were rare genetic differences. I exhausted myself emotionally and physically and drove myself bonkers.
I also spent ridiculous amounts of time researching various therapies and interventions, hassling the relevant person, and making charity applications to make things happen. I quickly learned that you don't get it if you don't fight hard for your child's needs!
Exhaustion has been a feature of our unexpected journey. The endless medical appointments, telephone calls, school meetings, assessments, funding applications, benefit applications (and appeals and tribunals!), on top of the daily needs of looking after a severely impaired child, severe and prolonged sleep deprivation, plus the self-appointed position of the chief researcher can add up to an emotionally and physically draining existence.
The worrying does not know that if you don't drive this thing like a tank through no man's land, nobody else will. It is a heavy load to carry.
Heartache has been a feature of our lives. It's unavoidable.
Watching your child struggle with every aspect of existing and functioning is heartache.
I love my older boy, Sammy's brother, so much it hurt not being able to spend time with him. My crushed dreams of functioning as a typical family disappeared. Doing fun things and learning about the world were gone. The guilt I had while watching his nativity play and sobbing silently throughout, not being able to peel my eyes away from the row of children Sammy's age singing a perfectly rehearsed song with an accompanied Makaton sign. Watch him play alone, endlessly, patiently, and sadly waiting for me to sort out whatever was bothering Sammy at the time.
Sammy remains nonverbal, with a severe intellectual disability. He scrambles for the snippets of information that a typical child processes every moment. It is constant interaction with the environment and social interactions that go on to build cognitive skills. He learned very slowly, in a haphazard way, are often forgotten, and the "diagnosis doesn't matter." I heard a lot, and I disagreed with it. Through my research, I knew that neuroscience had made gains in recent years and that the technology of whole gene exome could potentially reveal hundreds of new syndromes or conditions.
I knew that a lot of research in the past focused on genes associated with autism. Ten years ago, a diagnosis would not have been possible, but as things stood, I thought maybe we could get a diagnosis for Sammy.
As Sammy had turned six, I began to give up hope. I felt sick at discovering that his condition was worse than it somehow appeared. The DDD study results were imminent, and I had convinced myself they wouldn't find anything. Perhaps protecting myself by deciding that if there were no results, I would give up searching and accept not knowing. Surprisingly, the DDD study did find a cause of Sammy's disabilities. It was SYNGAP1!! I said to myself, SYNGAP1, what?!
I did what anybody would do, given that I had to wait six weeks for further information from genetics. I began the search in my trusty friend and tool called Google, of course! I was astonished to find there were OTHERS and that some knowledge was available and research had already begun. When I saw a photograph and read a mum's description of her daughter, I literally could not breathe for a few minutes. Finally, we had the answer, and we were no longer alone.
There was an end to the chapter of knowing, which brought about some sadness too, but overwhelmingly the end of the dangling on a string and wondering feeling being over is an excellent relief. And no, a new chapter of learning all there is to know about SYNGAP1 and the other children. Having access to the knowledge and experience of others has been helpful for us to move in a more refined direction.
And Sammy, well, he's just Sammy! He can drive you from tears of exhausted frustration to make your heart sing with love and admiration for his ability. To experience bliss and joy from things that most people take for granted much of the time. The feel of water sprinkled or flowing, watching it ripple, the reflections, shadows, and mud in a puddle. He has taught us to notice these simple, beautiful things and be in the moment.
Sammy can walk, but he's wobbly and falls over a lot, he tries hard to talk, and we are hopeful that he will learn to say some words reliably; behavior is like a toddler, and this has been the most challenging aspect of SYNGAP1 for him and you. He was recently further diagnosed with oral dyspraxia and an unrelated to SYNGAP1 (we think) hearing impairment. We are grateful the doctors have his epilepsy under control. Although we carefully watch for changes.
He loves food and animal. He goes to a particular school and enjoys the sensory-rich environment and the activities. He has a respite worker, which he adores, and we want the time doing stuff that Sammy doesn't like! He can get overwhelmed easily and requires a lot of sensory input.
The diagnosis doesn't look to matter. It does!
As I sat and wrote this story, a new post popped up on the Syngap1 Facebook group. These snippets of information are like good dust to a desperate parent flailing around in the dark for six-year! The latest search and findings into SYNGAP1.
Miracles could happen if a drug could be developed and safely given to our children to target the lacking protein SYNGAP1 and allow more efficient learning while their brains develop! We live in hope for this.
We also live in the hope that we can continue to refill our cups each day to face the next, knowing that the love we have for our special SYNGAP1 baby and his wonderful, caring, and loving brother will see us through whatever life has to throw at us next.
Our story of a child waiting for eight years and then this birth, which we finally give the joy to being parents. We do not know how one becomes a parent; you learn to be – our instinct guides us this far. The pediatrician did not see fit to make examinations, and then Juliano moved into the house with a trotter pretty quickly. Around six months, Juliano roosts with eyes in the air when dripping!!! It was not until around 15 months that I realized something was not going well.
My pediatrician told me not to worry, that boys are slower than girls in walking and talking!! Around the age of 27 months, I require careful consideration, and there the nightmare begins. Echenne, neurologist Professor of Chauliac Gui’s Hospital of Montpellier in France, requires an EEG, a scanner, and conventional examinations of Fragile-X, etc. Referrals for three years in psychiatry and, of course, the hell reviews of all syndromes that exist in the world: Angelman and schizophrenia. Nothing! Again! I demand he has to pass the test for autism, the behavior!!!! Anything either pervasive or personality disorders (PDD) in genetics and continue to find nothing in all its stages. Juliano is already six years old and still nothing definite.
In August 2015, I had a pretty extraordinary encounter by chance with Monica Dudley via Facebook. We participated in a research protocol two years ago, and there we finally had a diagnosis in March 2015, when Juliano was then eight years old. SYNGAP1 says Dr. Willems, the geneticist. So I ask questions that are unanswered or vague in response.
Although I do not speak English, I could get more answers from him, and she significantly helped me discover that my child had epilepsy. The great doctors had not seen me for diagnosing anxiety attacks in September 2014 when I went to the emergency room. With this diagnosis, Juliano started the micropakine (Sodium Valproate) antiepileptic therapy for one month with a 500 Mg morning dosing and 500 Mg evening dose. He continues to have epilepsy after the neurologist agreed we would administer Lamictal to complement the micropakine. Juliano is an extraordinary child, and he proves it to me every day; despite his heavy new treatment, he accepts all the changes around it: new school, new teacher, and new schedule and is a delighted child full of resources.
The discovery SYNGAP1 gene consolidated me in the idea that since the age of six months, Juliano has had epilepsy, and nobody has seen it. I fully believe that epilepsy does damage.
The French neurologist and geneticist say, unlike Dr. Rumbaugh that epilepsy is not damaged and is the result of brain disease. It is important not to antagonize!!!! Juliano said more words now before he lost the overall pronunciation of certain words like dad and coffee.
So here, I think in six months, a significant cognitive improvement we will be able to observe as Juliano was eventually interfering with epilepsy. What we expect of a research program is to help us help our children. As for parents suffering, the worst is to live by seeing their child suffer. I know we have a real and severe track, and I will not drop.
Mainly, I could never thank Monica enough for the help she gave me. Despite the language barrier, we come to understand ourselves because our engine is love for our child.
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 page Parents 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.
At 2, we knew something was going on with our little Payton. She wasn’t talking as much as her sister. It took her almost 17 months to walk. We always called her our quiet child. During this time, we started looking into tests and procedures to uncover what was happening with Payton—beginning with the pediatric doctor and neurologist, genetics, and metabolic. Around age two and a half, maybe 3, an EEG revealed she was having seizures, which broke our hearts. We moved on to more tests were done and all of which uncovered nothing. Until last October 2014 (age 6). When we got a call from metabolic indicating they found what Payton has, Syngap1!
What is that, I asked? And she briefly told me it is the cause of intellectual disability and seizures. Wow! No cure as of today, but maybe, there will be one day. The news was hard to hear. But in the same breath, we had an answer. An answer as to what was going on with Payton. How will this affect her? She is slower than most children her age. She has apraxia of speech, so she doesn’t talk smoothly like everyone else. She has to stop and think about what she wants to say. Payton is like a drunken sailor. She is off balance due to her medication or
condition, low muscle tone, accidents, and falls occasionally. She works hard to fit in and wants to be accepted. She is loved by many, and her smile lights up the room. She is amazing to me with her determination to try hard and stubbornness to be independent.
We have tried cheerleading but couldn’t keep up with the routine. Swimming, but wasn’t accepted on the swim team. Softball, which we never got to hit the ball and be on 1st base. Now in soccer and trying hard to find a sport of her own. Her ability to not have seizures intrude on her ability to learn and grow. She loves to create and color and paint. She might be an artist at heart. We love her for everything she does and is and wouldn’t change anything other than this genetic mutation. If we could give her anything in life, it would be to have all the abilities that the rest of us have. The power to increase her intelligence, grow up, have a career and a family, be loved and appreciated, and give back to the world in a way that she would enjoy. I pray that continued research finds solutions to help us find the normal button. Thank you for reading our story and not giving up on our family and many others.
Eleanor is our spunky, loving, and creative four years old. She was diagnosed with SYNGAP 1 at the end of August 2016, following the results of Whole Exome Sequencing through Children's Hospital in St. Paul, MN. Eleanor was born a week overdue with hip dysplasia and jaundice. Her first four months were spent in a hip harness, followed by a cranial cap for flathead. She also received physical therapy for torticollis as an infant and visited the feeding clinic to help her swallow even the simplest of baby foods. Yet, she was the happiest baby, despite these challenges. She has always been a super trooper in tolerating new things(We are fortunate!) It wasn't until we noticed she wasn't crawling or making "typical" baby sounds that we reached out to our school district and began the birth-three program. Eleanor didn't start crawling until very late and didn't walk until around age 2. Around age 2, she had her first MRI, followed by a one-hour EEG; both came back normal.
After seeing every imaginable doctor and specialist, we returned to genetics, who referred us for genetic testing. They told us they were looking for Fragile X and Angelman Syndrome. Again, all tests came back normal. But Eleanor was NOT normal. Through a special grant, we received the whole-exome sequencing this past May, where we got our answer. She is non-verbal but has started to use a talking app to choose foods at mealtime, which she loves to do! I pray for a day in the future when I hear her say, mommy and daddy.
Soon after a recent visit, an assessment with a neuropsychologist said that her receptive language is average for a 33-month-old. Still, her expression is at the developmental level of a 4-month-old. Our most recent 24-hour EEG revealed there were little spikes but no seizures. These happened when she would close her eyes, about once every hour. they shared with us her brain would shut them down. Therefore, she was on a low dosage of Keppra, which she seems to tolerate just fine. Our daily struggles stemEleanor'sanor's inability to communicate when upset or frustrated with something. The most challenging part is seeing her bang her hands against her head to show her frustration. We practice basic skills like using a spoon, holding the cup with both hands, dressing, and rejoice in the little (BIG in our eyes) successes like when she can take her shoes off herself. We have a long road ahead as we seek more tailored speech therapy, O.T, and P.T. Eleanor continues to amaze mom and dad with her perseverance. Even her doctors, therapists, and pre-school teachers comment on what a hard worker she is. Her outer strength and muscle tone might be weak, but the courage and commitment she has inside her cannot be broken or beat. We both believe she was given to us for a purpose and have learned so much from her!
was born on a gorgeous Sunday morning with the sweetest smile and the biggest blue eyes you have ever seen. Just like any typical family we were extremely happy and proud of our little baby girl. When she was 3 months old the storm clouds started rolling in.
Claira began to miss many developmental milestones. Her Pediatrician and well-intentioned others insisted she was “just a slow baby” and “she will catch up.” I could not accept this, and I became obsessed with research. I was her mother, and my little girl needed my help. Nothing was going to stand in our way. By the time she was one, she still could not sit up or stand by herself and had trouble eating her baby food or drink without choking. She was not speaking words or making expressions. She did not play with toys or physically hold anything in her hands.
At 17 months, Claira began Early Intervention services, including occupational, physical, and speech therapy. We drove from Jacksonville to Birmingham every Monday, Wednesday, and Friday. By 2 ½ years old, Claira was still not walking, eating solid food without choking, and still no communication. Her cognitive ability was still at the infant level. Finally, we made an appointment with a neuropsychologist. Claira received a diagnosis of autism, hypotonia, and global developmental delays. The information provided some answers and also confirmed many fears. We vowed to get her the best possible care and therapies we could find. Dreams of tea parties, dance recitals, and sleepovers had to be put on hold.
At three years old, the questions returned as she began to show signs of seizure activity. We had feared earlier in her little life but never could catch them on camera, which was very sporadic. Now, they were becoming more and more apparent, to where she was having up to 50-60 per day. We knew there was more than just autism lurking in the darkness.
A neurologist saw the same seizure activity at five years old in Atlanta. He sent off for a genetic panel to see how he needed to treat her seizures. All our questions had answers when the tests came back in July 2015. It was SYNGAP1! We had an absolute path to take.
We had an appointment with a genetics panel at UAB, and they showed us pictures and printouts of her diagnosis, which was a whole new world to us. It was our child! In the photos of the children, we saw the same little quirks, delays, and little perfections just like Claira, and every printout was reading as if it were made just for us. We were getting to know our little girl for the first time.
SYNGAP1 was discovered in 2009 and is a rare chromosome disorder where chromosome 6 is either mutated, like in Claira’s case or deleted. It is an epilepsy disorder and can present with hypotonia, intellectual disability, severe language or loss, physical delays, ataxic gait, schizophrenia, and autism-type behaviors. Our lives are filled with EEGs, MRIs, and more abbreviations than you can count! But our child is perfect and beautiful! Blood work is a bi-monthly activity, and she has a complete drug cabinet all to herself.
We know around 250 more perfect children like our Claira Beth in the world! It has been a long seven-year journey, but now we hope our daughter will continue to learn and grow like other children. We have been fortunate to meet several other families from around the world, Canada, France, Germany, the UK, Texas, California, Illinois, Montana, North Carolina, Australia, and so many more. It will be a lifetime challenge daily to keep seizures stable as possible and maintain normalcy in a ‘rare disease’ world. But, now, with a support group like The Syngap1 Foundation, we are connected daily with other families, where we can share our struggles with someone who ‘gets it,’ we can share our ever-so-tiny accomplishments. They understand why we get so excited and celebrate together as if we roped the moon! We share our child’s cries, smiles, and screams, all while we know one day. WE WILL FIND A CURE!
Ty was born on a stormy July 14th, 2015. He announced himself with a healthy scream.
He is our third child and by far the easiest baby. He slept through the night immediately, nursed like a champ, loved hugs, and always smiled.
Around four months, I noticed he was not interested in rolling over or looking at toys. He was just very content laying on his back and interacting with people. Deep down, I knew something was off. Everyone assured me that he was OK, just lazy, and I should be thrilled to have such a happy and content baby.
Around seven months, when he was still not sitting on his own, he qualified for PT with early intervention. Our biggest challenges at this time were his low muscle tone, lack of motivation/interest, and motor planning.
I had a feeling that his delays were not just due to laziness, something else was causing it, and I wanted to know why. We were fortunate to have a Pediatrician who listened to our concerns and referred us immediately to a Pediatric Geneticist. He ordered a microarray analysis that came back normal.
The Geneticist had a hunch that something else was happening and recommended running the complete exome sequencing.
While waiting for the results, Ty started OT. His
Eight weeks later, the results of the whole-exome sequencing came back.
I remember the day of the diagnosis, November 30th, 2016. The genetic consultant had prepared a full presentation for us. Before she started going over everything, I asked if they had answers. When she said yes, I felt punched in the stomach. I guess I was still hoping that SPD and Hypotonia were the only diagnoses we would receive!
She gave us a crash course in basic genetics, then she turned the page, and there it was in big letters: INTELLECTUAL DISABILITY. That’s the first thing I remember seeing. I fell apart! She explained that Ty has Syngap1, a rare genetic disorder discovered only in 2009 and that they don’t know much about it. I heard intellectual disabilities, global delays, autism, epilepsy, nonverbal, etc., and I felt utter disbelief. Our best bet would be to get in touch with other families.
I had spent hours searching online to find what could be causing Ty’s delays, but I never came across Syngap. I had never heard of it and had no idea what Syngap was, yet this new 6-letter-word will be changing our lives forever.
Our family roadmap took a dramatic turn that day, and we officially had a special needs child! It is a terrifying and powerless feeling, and not prepared for it.
The sad part is that our perfect little boy will have to fight and work hard all his life to reach all the milestones that come so naturally to most of us! And we can’t fix that! As a parent, it is a hard fact to face.
We wondered if he would be able to live on his own, get a job, get married, who would care for him when we were gone, etc.—thinking that far ahead could drive us crazy! We can’t predict these things for our other two kids either. We had to shift our focus to the present, take one day at a time, and celebrate every little milestone.
In a short time, all his therapy work paid off. Things clicked in his brain, and he could transition from lying down to sitting, sitting to crawling, crawling to standing, and taking a few steps. That deserved a big celebration! It gave us HOPE!
Our journey is a little different than most Syngap families who had to wait many years to get answers. We were extremely fortunate to have a very early diagnosis when Ty was just 16 months old. We were given a head start thanks to the fantastic Syngap community, we know what other kids and families are going through, and we can be proactive in Ty’s therapy and health plan.
Ty is a thrilled little boy who loves music, food, swimming, and hanging out with other kids. He gives the best hugs, and his smile lights up the room.
We haven’t seen the full effect of Syngap yet. We hope the research will progress quickly, so Ty and the other Syngap kids have access to a better life and brighter future!
My following pregnancies were monitored closely with early ultrasounds and monitoring at a specialized women’s health clinic. Both pregnancies were normal and it’s not able to mention because there was no sign there would be an issue with "W".
As a baby "W" was absolutely adorable. He was really chubby and so calm and sweet. "W" never did babble much. He would, however, repeat the same sounds over and over again in his crib as I recall. He was a calm baby and easily entertained. I used to sit him in a baby seat under a ceiling fan and he would watch it spin above him and get so excited! When he started to crawl around 10 months he would crawl right to the front door and open and close it and thought it was the best! He finally started walking around 15 months but he walked very unsteadily. We would say lightheartedly, that he looks like a drunken sailor when he walks.
It was right around his 1st birthday that we started to wonder about "W’s" development. The lack of any kind of speech was concerning. He also started to show that he was having issues with his sensory system. I remember him never being able to catch his breath in the wind. He was so uncomfortable in the wind. He also was showing issues with certain sounds. His dad was working on remodeling the bathroom at the time and "W" would lose it at the sound of hammering. He also couldn’t handle the sound of other babies and small children crying. He would scream in terror at the sound. That was very hard on me because I love babies and we would have to start avoiding them. My nephew was a newborn at the time also and he couldn’t stand being near him. It was so sad. He also couldn’t hold a bottle properly. He would always have tight little fists and needed help with holding items.
Around 15 months W’s pediatrician ended up referring us to a speech therapist for an evaluation. At that appointment, our lives really changed. I had at the time just been thinking, he’s just behind and he will catch up. He’s still a baby. But the speech therapist used terms like apraxia of speech and dyspraxia and sensory processing disorder and perseveration and early intervention and therapy and all kinds of things I’d never heard of. We felt worried and scared. I made it my mission to do everything it took to help him. We started speech, occupational and physical therapies all at once. From there on out our lives became consumed with appointments as well as worry and sometimes excitement when something new happened. "W" never lost skills like some kids with autism are known to do. He always just moved along at a very slow pace.
Around age 3 "W" started biting and screaming whenever he was upset. And I thought, what happened to my little angel? He turned into ‘the saddest kid in the world it felt like. It was so hard. We all started tiptoeing around him and doing everything to keep him happy. The therapists were not surprised and were always really supportive. At the same time, he started having atonic seizures. He scared the heck out of us. Head wounds bleed A LOT. He would fall flat on his face and had a couple of trips to the ER resulting in stitches and staples. He would put up a huge fight over these procedures. He was inconsolable. So around this time, we were sent to neurology and he had the usual overnight EEG testing and was found to have atonic as well as atypical absence seizures. The seizure situation was tough and it was hard to find the right meds. It was trial and error. Eventually, "W" was considered to have intractable epilepsy. The neurologist asked us if we wanted to have a vagus nerve stimulator (VNS) implanted to help control these seizures. We thought about it for a long time and finally said yes. It was so hard to go through all the med changes with Will. We never knew what kinds of side effects we were going to get. We are really happy to say Will responded amazingly to the VNS. He stopped having drop seizures pretty quick after having it put in. He is still on two seizure meds, however. But it all is working well right now. I’m never going to say, oh wow, now he’s cured! because I know it can change at any time.
During all this we also had Will evaluated by a neuropsychologist and started seeing genetics. Neurophysch diagnosed him with an autism spectrum disorder. He fit a lot of the criteria, including his obsessive behaviors and being nonverbal. But at the same time, he was so social with good eye contact and had a great sense of humor that the doctors thought there was something else going on. We saw genetics a couple of times and he had a couple of rounds of routine testing that showed nothing. Finally at age 6, just last summer, he was approved for whole-exome sequencing. After a few months of waiting his results came back and we could not believe they found something! I was truly amazed. I never anticipated us actually knowing much. They found he has an SYNGAP1 frameshift mutation and here we are today!
I’ve met a lot of families online with children similar to "W" and I just cannot tell you how much that means to me. I have felt so alone in the past. When you have a child who is violent and screaming and nearly impossible to take anywhere, it can be very isolating, even among our local special needs community.
At 6 years old "W" remains nonverbal, while he is nonverbal, he is not quiet! He can be the happiest kid with the biggest and best smile in the world. When he is happy you cannot help but be happy with him. He is super passionate about the things he likes too. He loves ceiling fans, opening and closing doors, and playing with balls. He is kind of amazing at playing basketball. His sensory system is still causing problems, though I have noticed it is improving somewhat. It still makes just about everything new hard, though. I never know how he will react. Some days he will really surprise me and not have any bad reactions to the thing I thought he would get most upset by. "
W" is also able to learn new things pretty steadily, slowly but steadily. This is a blessing. He enjoys therapy and his relationships with his therapists and teachers.
Will also has a side to him that is violent towards others as well as self-injurious behaviors with head hitting and banging. He doesn’t seem to be able to understand he is hurting people when he bites, hits, and scratches. He gets very frustrated at not being able to communicate effectively and he also cannot stand being told no and being denied access to the things he wants. It is hard on our family, I will not deny it. I also worry about his future immensely. I have no idea what is going to happen with him. As he gets older, though, I am learning to accept it and am more comfortable with our way of life. It is not the life I ever envisioned for myself and my children. However, we love Will so much and want him to succeed and live in his own way. He deserves his life as much as the rest of us. And I think he can teach the people around him to be accepting of differences and learn to love the simple joys in life just like he does. I will continue to do my best to support him and fight for him. There will always be hope in my heart that he will continue to learn and he will find his place in the world.