Meet Our Families

Eleanor

Eleanor

Mosaic Deletion GABRA1 & GABRG2

We were a typical family until Eleanor was about 18 months old. At that time I noticed something was atypical in her behaviors and by then she’d already experienced her first seizure. It wasn’t until a few months later that we traveled to Israel and my son first found Eleanor shaking with pale skin and blue lips. She was completely unresponsive.

I’m still haunted by the thought of holding her in my arms thinking that she was dying as my son screamed.

“I love her! I don’t want her to die.” I knew then that our lives were going to be forever changed.

Months were spent trying to diagnose Eleanor. Physicians just did not know, and they told me to wait and see. At this moment I knew that Eleanor needed me more than ever to be her voice. To be a strong advocate. I spent hours on the internet many a late nights, searching for an answer. I ran every test under the sun and I was determined as any mother should be.

I knew that as long as I had a diagnosis regardless if there were any clinical trials or publications available science would be able to find her a cure.

Eleanor’s Mother

Carmen

Carmen

Mutation in GABRB3

Carmen is a beautiful 3 years old girl. She is loved dearly by her mother Laura, father Javier, as well as the rest of her relatives and all who know her! She lives in Málaga, Spain with the daily battle of a severe and rare form of Epilepsy, called Migrating Partial Seizures Of Infancy. This condition is considered terminal. For Carmen this condition is caused by a gene mutation of her GABRB3 gene, that happened spontaneously (or “randomly”, but not inherited.) When his DNA from her was very first forming. This was not something that was able to be detected on ultrasound or bloodwork while she was in her mother’s womb. Carmen was thought to be perfectly healthy during pregnancy and even after she was born. There were no complications with her birth, she has born a hefty 2,5 kg and checked out in tip top shape! She breast fed normally and was thriving. By 1 month of age her mother noticed she was having “subtle” seizures. But she would soon be having around 100 seizures a day that no anti-seizure medications could put a stop to. Carmen spent most of the first 6 months of her life living in Malaga Children’s Hospital. When it was realized there probably wasn’t more they could try she was finally sent home, miraculously now she is feeling better, maybe now she understands how much love she has with her. More research is needed to alleviate her epilepsy.

Carmen’s Mom

Ilan

Ilan

Mutation in GABRB3

Ilan, a 9-year-old boy, has successfully achieved the most developmental milestones, except for speech as we have in the family late talkers initially we didn’t take any action until he reached 2.5 years. Since then, we’ve been actively researching ways to help Ilan find his voice. During this journey, we’ve identified other challenges as hyperactivity, lack of focus, anxiety, constipation, comprehension issues and behavioral problems.

Ilan was eventually diagnosed with Autism Spectrum Disorder (ASD) and severe apraxia.

We are still on the lookout for effective ways to support Ilan, and we are particularly hopeful that joining to the GABA A family will make this journey easier for him.

Ilan’s Mom

Paola

Paola

Mutation in GABRA5

“Ciao a tutti,

Sono Paola, ho 4 anni e ho una mutazione del gene GABRA5 che mi ha causato una tetraparesi ipotonica aposturale , encefalopatia epilettica farmaco resistente grave ritardo motorio e cognitivo. In Italia sono il primo caso di questa rarissima mutazione e non esiste una cura per me, al momento , per la mia malattia.

La diagnosi precisa è encefalopatia epilettica e di sviluppo con crisi migranti farmacoresistente sintomatica di mutazione del gene GABRA5. Tetraparesi ipotonico-distonica.”

Hello Everyone,

My daughter Paola has a mutation in the GABRA5 gene that has caused apostural hypotonic tetraparesis. This is a drug-resistant epileptic encephalopathy with migrating seizures, severe motor and cognitive retardation. In Italy, this is the first case of this very rare gene mutation. 

The precise diagnosis is epileptic and developmental encephalopathy with drug-resistant migrating seizures symptomatic of GABRA5 gene mutation. Hypotonic-dystonic Tetraparesis.

Paola’s Mom

Pilar

Pilar

Mutation in GABRA1

Pilar is a happy little girl with a loss of function mutation in GABRA1. Due to this mutation, she has epilepsy and intellectual disability. Her seizures started when she was 9 months old and were initially diagnosed as febrile seizures. However, as she grew up, she started having non febrile tonic-clonic seizures and missing development milestones. Currently she has mostly absence crisis and has some autistic features.

Pilar’s Mom

Jillian

Jillian

Mutation in GABRB3

Jillian began having seizures at around 3 months old. They were very subtle and short. A school nurse recognized what was going on with Jillian and she was immediately transported to the hospital. Jillian was have 10-20 seizure a day. Shortly after she was diagnosed with GABRB3 with gain of function. Jillian is developmentally delayed, nonverbal, and has hypotonia. She is the sweetest 4 year old girl. She receives several therapies PT, OT, Aquatic OT, Speech. Her seizures are uncontrolled and change. Our biggest change at this moment is finding an aid to assist with day to day life. We hope to bring more awareness, join any research to give Jillian the best quality of life possible.

Jillian’s Mom

Charles

Charles

Mutation in GABRA2

Charles is a 3 year old little boy who started having infantile spasms around 8 months. From there we found out that he had the rare genetic mutation of GABRA2 gene. He has tried many different medications and surgery to try to help control the seizures so far nothing has worked. He has global developmental delays and works on PT OT and speech multiple times a week. He is nonverbal non ambulatory and He is the sweetest boy around. Typically smiling and laughing and loves to be with people. We hope researchers can help us find what we need to help him control his seizures and progress.

Charles’s Mom

Ivy

Ivy

Mutation in GABRG2

Meet Ivy! She’s a 4 1/2 year old warrior! When I was 18 weeks pregnant we found out by ultrasound that Ivy has multiple joint contractures and bilateral clubfoot. We did not know the extent of all contractures until she was born.

She was then diagnosed with Arthrogryposis Multiplex Congenita, Bilateral Clubfoot, Bilateral Hip Displasia, Scoliosis and Torticollis. I knew this was going to be quite some journey. In September 2022 her journey shifted. She had her first febrile seizure. Not long after that prolonged absence seizures began.

She now has tonic-clonic ones. As well, we started seeing regression in Ivy and developmental delays. She stopped saying the handful of words she knew and would no longer point to her nose or wave, etc., all leading to the diagnosis of autism. We did genetic testing in March 2023 and the results came back that she has a mutation in GABRG2 that could be the cause of all her challenges.

Despite 4 surgeries so far, countless therapies and all around challenges of her everyday life, she is one happy amazing little girl. She’s so strong, stubborn, loves music, has the funniest faces and sense of humor, very determined and inspires so many people.

She has definitely been proving people wrong since she was born! If it’s challenging, she’s going for it..even if that means figuring it out Ivy’s way. Watching her struggle is not in my future plans! This research means everything, not just for more answers but for better treatments and therapies.

Awareness +Research= a better quality of life.

Ivy’s Mommy 

Ava

Ava

Mutation in GABRA1

This is our Ava. She is 7 years old and despite her health challenges; she is one of the happiest kids you’ll ever meet. Ava experiences many challenges due to her GABRA1 gene. She is an epileptic with uncontrolled seizures. We have exhausted every treatment we could try and she is still seizing while on medication. She also experiences learning barriers due to autism and developmental delays. Ava struggles with comprehension and the ability to stabilize her emotions and moods. Her brain is unable to filter all the information coming in, causing her to stay in a state of overwhelm. It’s hard for Ava to communicate how this makes her feel but we know it has to be hard because we have bad days. Overall, Ava is a fighter and remains bubbly and optimistic. Ava is beloved by all who know her. Life with Ava may be challenging, but it is nothing short of rewarding. We are so blessed to be able to love and care for her. We are hoping that through research studies we are able to find a better path in life for Ava. We also hope that our story can help other children like her.

Ava’s Mom

Luke

Luke

Mutation in GABRA1

In the midst of the 2021 pandemic, our family welcomed Luke, a perfect baby born full-term and healthy. His early days were blissful, but by six months, subtle signs began to emerge, hinting at an underlying challenge. Luke’s eyes appeared slightly off-axis, and he was not meeting developmental milestones typical for his age.

As he approached his first birthday, our concerns intensified. Despite our best efforts, Luke struggled with weight gain, lagging behind in development. This marked the beginning of a relentless quest for answers, leading us through a maze of medical consultations.

The turning point came with genetic testing at Johns Hopkins, revealing a GABRA1-related disorder. This diagnosis left us with more questions than answers, as Luke showed no signs of epilepsy, a common association with this condition. The medical advice we received was patient: only time would reveal the full extent of Luke’s challenges.

Our days became a whirlwind of research, appointments, and therapies, each step a testament to our unwavering commitment to Luke’s well-being. Now, at 2 years and 4 months old, Luke weighs 22 pounds, a hard-won gain of 2 pounds over a year and a half. His world is one of exploration: he crawls with purpose, pulls himself to stand, and finds joy in the simplest activities like pushing a ball or basking in the glow of bright, flashing lights.

Despite the developmental delays – now more pronounced – Luke’s spirit remains unbroken. His laughter and smiles are a balm to our worried hearts. He cherishes moments with his family, including his sister Annabella and our two dogs, finding comfort in the familiar and love that surrounds him.

As we continue this journey, the frequency of doctor appointments may have reduced, but the quest for understanding and support for Luke persists. We share our story not only as a chronicle of our challenges but as an outreach to others navigating similar paths. In the face of the unknown, our family’s story is a testament to resilience, love, and the enduring hope for a brighter future for Luke..

Luke’s Dad

Briana

Briana

Mutation in GABRB2

This beautiful girl is Briana and she is 17 years old. She has a smile that brightens everyone’s day! Briana had been a mystery child for 12 years. She was finally diagnosed with a genetic mutation on GABRB2 when she was 12.

She had her first seizure(s) when she was 9 and they have been controlled on medication. Briana started walking when she was 5 years old. Briana is non-verbal, but that doesn’t stop her from getting what she wants!

She is the biggest social butterfly who loves everyone. Briana does PT, OT, Speech, Aqua PT, and Equine Therapy!

Briana’s Mom

Sarah

Sarah

Mutation in GABRB3

Sarah is 23 and has a diagnosis of LGS and ASD. More recently a GABRB3 variant was identified as the likely cause of her epilepsy. She has developmental/intellectual delays, expressive language difficulties, and generalized drug resistant seizures. As a baby she was on the late end of each developmental milestone and had her first noticed seizure at 1 year old. She was initially treated with her first medication: seizures seemed under control and she progressed, leading her doctor to believe it was something she would outgrow.

At the age of 2.5, Sarah started having seizures again, regressed in many milestones (stopped walking and talking), and we’ve been chasing the seizures ever since. She started on the Ketogenic diet at the age of 3 and is currently on Low Glycemic Index diet. The diet helped in part, which allowed her to regain her lost milestones. She also has a VNS. At her worst Sarah suffered with 80-100 seizures per day. At her best she is having 3-5 seizures per day along with frequent EEG spikes (every 10 seconds). Over the years she has tried 24 different medications in various combinations and participated in three investigational drug trials, while enduring medication side effects, honeymoon periods, injuries, and other setbacks.

We have worked very hard with therapists and the school district to help her thrive and improve her quality of life. Our focus has been to support Sarah in all she can do, and we are amazed at what she has been able to accomplish given the adversity. Sarah truly is a warrior in every sense of the word. But every day is a struggle, and every new treatment option continues to be a “band aid solution”, rather than a focus to address the root cause of her epilepsy.

We are so happy to have found a group of GABAa families and we look forward to making connections and working together to advocate for a much-needed cure.

Sarah’s Mom

Coline

Coline

Mutation in GABRA1

After 2 miscarriages and a baby loss during pregnancy, we were so happy to welcome our new addition to the family and named her Coline, Hope. Coline had trouble with eye contact and motor skills development at 6 months old. And that is when the nightmare began! We multiplied clinical exams and therapies. Thanks to intensive physical therapy, she reached some milestones with a huge delay (opening her hand, grabbing toys, grabbing her feet, rolling , eye contact).

She was diagnosed with severe neurodevelopmental troubles and then the exome sequencing revealed a gabra1 gene mutation. Only one amino acid changes on one of the two genes and she will have to be brave and fight for the most common things during her all life.

There is no treatment and you have to be prepared to face a severe intellectual deficiency as well as an inhability to walk or even sit » the neuropediatrician said . As parents, we need to fight as a treatment is possible and she deserves a chance at life!

Now, she has up to 6 therapies a week and she is only 5 . So far, she is not able to sit or crawl. She needs a molded corset seat and a standing frame. She has uncontrolled motions. Her fine motor skills are really limited. She is not able to communicate yet (babbling). It is really hard to know what she is able to understand. She has strabismus and still needs to eat mixed food. Sh ealso has epilepsy. Life with Coline is full of joy but it is like we have had a 7 months old baby forever. It is a big challenge!

She is an amazing, happy little girl. She is always smiling even if she fights every single day to achieve common action. She is so brave and inspiring. We are fully dedicated to give her the hope as we even chose that word as her middle name !

Coline’s Mom

 

Amelie

Amelie

Mutation in GABRB1

Amelie was diagnosed with a rare variant in GABRB1.
Because she is the only one(so far) with this variant she is labeled with “unknown significance”. Her neurologist and doctors believe this is the missing diagnosis for Amelie, as she has been a mystery until this finding.

Since infancy, Amelie has had hypotonia, oral dysphasia, fine and gross motor skill delays,and didn’t learn to walk until 3 1/2 years old. Amelie is currently learning how to go up and down stairs and maybe one day jump!

Her MRI found some white matter and was diagnosed with cerebral palsy. It was interesting to find that a lot of GABRB1 one patients have some white matter like Amelie found on MRI scans.

Amelie is also diagnosed with ASD, oral dysphasia, and global development delay, and does have an intellectual disability.
She has yet to speak and has a hard time focusing. Her fine motor skills are still developing, but she is making progress, and can even do a couple of ASL signs. She also still has her startle reflex.

Amelie has had 2 EEGs, both normal so far. She is a determined little girl, who loves to try new things and loves so many activities. She never gives up, and she is learning and growing at her own pace.

Amelie’s Mom

Scarlett

Scarlett

Mutation in GABRA1

At 3 months the old she had her first seizure. This took us down a very long road of tests, finally resulting in genetic testing. We found that she has a de novo GABRA1 gene mutation with gain of function. She was on at least 5 medications before finding a good combo; Vimpat, Topiramate and Epidialex (CBD). Once the seizures were under control, her dystonia increased substantially, which we are still dealing with.

She’s currently 22 months and we are still working on sitting independently, she does not reach for anything, or make much eye contact. Lots to work on but we still have progress.

Scarlet’s Mom

Link

Link

Mutation in GABRG2

My son Link is going to be three on March 1st. When he was a little over a year old he was playing and pushing a garbage can and he stopped and was frozen. He was not there.

He could hold and drink his sippy cup but when I called him or waved my hand in front of his face nothing happened. We had him taken to the hospital and they said he had an absent seizure which could have been a one and done thing. It is normal in children.

We were sent to a neurologist because his pediatrician thought he had a big head. We didn’t have a good experience with this neurologist. My son had another seizure and we spoke with the wonderful ER doctor who suggested we see this other neurologist who had just moved to our area from Atlanta.

We had our first appointment with her and she automatically wanted to run a genetic epilepsy panel because she wanted to find out the cause. Once that came back and we found out he has GABRG2. She wanted to test my husband and I to see if we had the same thing. My husband came back positive for it. He had seizures as a baby and then never found out why.

Over the course of time my son’s seizures have changed from absent to shaking and stiffness. He does make a yelling noise when they happen. He was put on Keppra when he first had another seizure after the first one. We never know when the seizures are going to come on. They just happen. The variant that both my son and husband has is very rare and it is being studied by Sebastian Ortiz in Denmark to learn more. My son is the first person they have seen with this variant.

Every time he has a seizure they up the keppra which I feel makes the seizures worse. He was put on another medication to help stop seizures.

My family along with doctors are learning about this variant as we go since this is so rare. The neurologist has sent us to another neurologist for a second opinion in Atlanta since she worked there. We are hoping to learn more and get some relief for this. It has been a struggle. It is not easy watching your child go through medical issues. Every time he has a seizure we give him his emergency meds and he goes to the hospital. Some are worse then others. He is a fun loving little boy.

Link’s Mom Muryah

Boss

Boss

Mutation in GABRB3

Boss, the youngest of four siblings, started life as a healthy and vibrant baby. Unfortunately, at the age of 5 months, he faced a sudden and challenging turn when he experienced his first seizure. Swiftly placed on five different medications, Boss encountered a difficult journey marked by regression. Despite the setbacks, Boss exhibits remarkable strength and resilience.

Engaging in therapy five days a week, he’s working diligently to relearn essential skills like sitting, rolling, and feeding. Boss, once a joyous and cheerful baby, hasn’t smiled in a year due to the ongoing battle with daily seizures. However, his unwavering determination, coupled with improvements after discontinuing some medications, instills hope that one day, his infectious smile will light up his face again. The journey continues, fueled by the commitment to witness Boss’s radiant smile once more.

Boss’s Mom

Laura

Laura

Mutation in GABA-A Variant

“La historia de Laura comienza hace dos años y medio,cuando mamá tras un embarazo estupendo le llegó la hora de traerte al mundo desde ese día luchas contra una encefalopatía epiléptica del desarrollo provocada por una mutación genética,la cual te provocaba más de 40,50 crisis diarias una grandísima hipotonía y una gran cantidad de ingresos hospitalarios a día de hoy seguimos luchando y creemos que la cura y mejora de tu calidad de vida cada día está mas cerca.Tu GUERRERA eres el motor de nuestras vidas”

Laura’s story begins two and a half years ago, when after a wonderful pregnancy, mum brought you into the world. Since that day, you have been fighting against developmental epileptic encephalopathy caused by a genetic mutation, which caused you more than 40,50 daily seizures, a huge hypotonia and a large number of hospital admissions. Today we continue to fight and we believe that the cure and improvement of your quality of life is closer every day. You are a WARRIOR and the engine of our lives.

Laura´s Mom

Adele

Adele

Mutation in GABRA1

Adele é nata il 23 aprile 2005. Nella prima infanzia ha presentato ritardo nella capacità di svolgere autonomamente le normali funzioni corporee, ma ha iniziato regolarmente a parlare. Non ha presentato difficoltà motorie. A 9 anni, quando già si sono rivelati problemi di deficit dell’attenzione e lieve ritardo dell’apprendimento, ha avuto una forte crisi epilettica con crisi respiratoria e coma, che ha richiesto ricovero d’urgenza. A seguito di questa manifestazione sono state avviate indagini che, successivamente, presso l’ospedale Meyer di Firenze, hanno portato alla diagnosi di mutazione Gabra-1. Negli anni successivi il ritardo si è manifestato sempre più significativo, comportando difficoltà scolastiche e cognitive, associate a manifestazioni di occasionale aggressività, depressione, inedia, atteggiamenti oppositivi e non collaborativi. Per questo ha ottenuto il sostegno scolastico. Nelle indagini del Meyer é risultata una iper-alaninemia plasmatica non spiegata. L’analisi Array-CGH e il sequenziamento del DNA mitocondriale sono risultati negativi. É stata effettuata biopsia muscolare che ha evidenziato un quadro istopatologico di minima variabilità.
Allo stato attuale dei fatti, Adele si presenta insicura e spesso timorosa, oppositiva e tendenzialmente molto pigra. Tende a non collaborare nella vita domestica e sociale, ha avuto un regresso nella capacità di leggere e scrivere, presenta occasionali manifestazioni di aggressività verso oggetti e persone e ha bisogno di assistenza continua pur conservando una certa autonomia nelle funzioni quotidiane, come vestirsi, mangiare e bere e altri piccoli compiti domestici.”

Adele was born on 23 April 2005. In early childhood she had a delay in the ability to independently carry out normal bodily functions, but she began to speak regularly. She did not present any motor difficulties. At 9 years old, when problems with attention deficit and slight learning delays were already revealed, she had a severe epileptic seizure with respiratory crisis and coma, which required emergency hospitalization. Following this event, investigations were started which subsequently led to the diagnosis of the Gabra-1 mutation at the Meyer hospital in Florence. In the following years the delay became increasingly significant, leading to scholastic and cognitive difficulties, associated with manifestations of occasional aggression, depression, starvation, oppositional and non-collaborative attitudes. For this she obtained school support. In Meyer’s investigations it turned out to be one unexplained plasma hyperalaninemia. Array-CGH analysis and mitochondrial DNA sequencing were negative. A muscle biopsy was carried out which highlighted a histopathological picture of minimal variability.

In the current situation, Adele appears insecure and often fearful, oppositional, and generally very lazy. She tends not to collaborate in domestic and social life, has had a regression in his ability to read and write, presents occasional manifestations of aggression towards objects and people and needs continuous assistance while maintaining a certain autonomy in daily functions, such as dressing, eating and drinking and other small domestic tasks.

Adele´s Mum

Pascale

Pascale

Mutation in GABRA1

Our 4 year old daughter currently has the only known variant on GABRA1. She has epilepsy, incredibly limited mobility, non-verbal with very little-to-no understanding, can’t feed herself, double incontinent, Global Development Delay, intellectual disability, 100% dependent upon others for everything.

Pascale´s Mom

Beltrán

Beltrán

Mutation in GABRA1

“Mi hijo tiene 9 años, es el pequño de 3 hermanos. Nació bien y a los 3 meses tuvo su primera crisis de epilepsia. A partir de ahi comenzó su epilepsia y una busqueda de diferentes medicamentos para controlarla. También nos dimos cuenta que su desarrollo no iba bien y comenzo en terapias. El tiene un grado grave de discapacidad, no tiene lenguaje, camina con ayuda, hipotonia, en definitiva, un retraso global del desarrollo.
Al año le apareció el primer episodio distonia causada (despues de mucho investigar) por el depakine. Su cuerpo adopta una postura anormal y solo se le pasa si duerme. Le da casi a diario.
De crisis ests bien con la combinacion actual: depakine, noiafren y diacomit. Estuvimos un año sin depakine para que no tuviera distonia pero tenia muchas crisis atonicas (perdids del tono muscular). Intentamos buscar una laternativa al depakine, como dieta cetogenica, canabidiol, fycompa,…y no funcionó. Decidimos volver al depakine aunque tuviera la distonia (preferible a las crisis). Actualmente estamos bajando de nuevo depakine e introduciendo lamictal.
Asiste a un colegio de educacion especial, es un niño muy alegre!
Gracias!!!”

Beltrán is the youngest of 3 brothers, he was born almost 10 years ago and everything was fine until the third month, when the epileptic seizures began. From there, we have come a long way looking for the right combination of medications to combat the refractory epilepsy and episodes of dystonia that he suffers from. In turn, he was diagnosed with global developmental delay and at 8 months we began his therapies: physiotherapy, psychopedagogy, equine therapy and hydrotherapy. The diagnosis came at 19 months, epileptic encephalopathy due to NOVO mutation in the GABRA1 gene. Beltrán, he doesn’t speak, we don’t have a system yet to communicate, but we understand just by looking at him. Cognitively he is very affected. He walks with help and at home he is able to take a few steps alone! He attends a special education school and is very happy.

He is an immensely happy child, he enjoys being with his family and us being by his side.

Beltrán´s Mom

Tao

Tao

Mutation in GABRA2

“Bonjour, notre histoire commence le 10 septembre 2021 à la naissance de notre fils Tao à l’âge de ces deux mois fait sa première crise épileptique sous forme d’arrêt respiratoire, s’en est suivi plusieurs longs mois d’hospitalisation pour essayer de comprendre ce qui arrivait à notre fils.
Tao faisait 15 à 20 crises par jour et par nuit en étant toujours en apnée respiratoire. Nous avons remarqué par la suite qu’il avait une très grande hypotonie , un retard de développement moteur et Cognitif avec une épilepsie sévère et pharmacorésistantes.
Tao a aujourd’hui 2ans, il ne parle pas, ne marche pas, il est très présent au niveau du regard et c’est un petit garçon très curieux qui aime les gens, très souriant.
En France il n’y aurait que six cas recensés avec aucun recul sur la mutation du gène Gabra2.
Malgré ces quatre anti épileptiques Tao fait quotidiennement des crises épileptiques (spasmes).
Depuis sa naissance Tao a fait beaucoup de petits progrès, il sait maintenant tenir sa tête, attraper un objet qu’on lui tend et tenir quelques secondes assis tout seul.
Nous espérons de tout notre cœur que parmi tous ces témoignages et rassemblement d’enfants qui sont porteurs de cette mutation génétique nous arriverons un jour à trouver les traitements nécessaires pour apaiser nos enfants.”

Hello, our story begins on September 10, 2021 with the birth of our son Tao at the age of two months had his first epileptic attack in the form of respiratory arrest, followed by several long months of hospitalization to try to understand what was happening to our son.

Tao had 15 to 20 seizures per day and night while always in respiratory apnea. We subsequently noticed that he had very severe hypotonia, a delay in motor and cognitive development with severe and drug-resistant epilepsy.

Tao is now 2 years old, he doesn’t talk, he doesn’t walk, he is very present in his eyes and he is a very curious little boy who likes people, very smiling.

In France there are only six cases recorded with no hindsight on the GABRA2 gene mutation.

Despite these four anti-epileptic drugs, Tao has epileptic seizures (spasms) daily.

Since his birth Tao has made a lot of small progress, he now knows how to hold his head, grab an object handed to him and sit for a few seconds on his own.

We hope with all our heart that among all these testimonies and gatherings of children who carry this genetic mutation we will one day be able to find the necessary treatments to soothe our children.

Tao’s Family

Felipe

Felipe

Mutation in GABRB2

“Felipe hoje com 20 anos , apos inumeros exames e consultas em especialistas foi diagnosticado com mutacao GENE GABRB2 apenas aos 12 anos com o exame Exoma, somos brasileiros e atualmente só temos notícia de seu irmão mais novo (parte de pai) com a mesma mutação, eles são mais raros por se tratarem de 2 irmãos com a mesma mutação.
Felipe nasceu bem porém percebemos que era uma criança muito nervosa, chorava muito, aos 5 meses ainda nao tinha controle do pescoco e iniciamos fisioterapia, ja era um alerta para seu atraso motor. Sentou sem apoio com 1 ano e andou aos 7 anos. Não verbal, com retardo intelectual severo, é bem agitado. É um mocinho muito feliz, sorridente, muito amado.”

Felipe is now 20 years old, after numerous exams and consultations with specialists he was diagnosed with the GABRB2 GENE mutation just at the age of 12 with the Exoma exam, we are Brazilian and currently we only have news of his younger brother (his father’s side) with the same mutation, they are rarer because they are 2 brothers with the same mutation.

Felipe was born well, but we realized that he was a very nervous child, he cried a lot, at 5 months he still had no control over his neck and we started physiotherapy, which was already a warning about his motor delay. He sat without support at 1 year old and walked at 7 years old. Non-verbal, with severe intellectual retardation, he is very agitated. He’s a very happy, smiling, much-loved little guy.

Felipe’s Mom

Adas

Adas

Mutation in GABRA1

“Adaś urodził się w 2009 r. W wieku 13 miesięcy pojawiły się pierwsze ataki przy infekcji z temperaturą. Od chwili wystąpienia napadów zmagamy się z tą ciężką chorobą, która znacznie spowalniła jego rozwój psychoruchowy. Ma zaburzenia zachowania, opóźniony rozwój mowy, adhd. Przejawia liczne zachowania impulsywne, agresywne i buntownicze, zaburzenia integracji sensorycznej . Jest dzieckiem nadruchliwym, ciężko się z nim współpracuje, ma trudności w rozumieniu poleceń, często bojaźliwy i ogólnie leniwy.
Ciężki do współpracy w życiu domowym, społecznym, szkolnym. Okazjonalnie przejawia agresję wobec przedmiotów i ludzi. Potrzebuje pomocy w codziennych czynnościach. Długo szukaliśmy diagnozy., gdy miał 13lat sekwencjonowanie eksomu potwierdziło mutację Gabra1-zespół Dravet.”

Adaś was born in 2009. At the age of 13 months, the first attacks of infection with temperature appeared. Since the onset of the seizures, we have been struggling with this serious disease, which has significantly slowed down his psychomotor development. He has behavioral disorders, delayed speech development, ADHD. Manifests numerous impulsive, aggressive and rebellious behaviors, sensory integration disorders. He is a hyperactive child, difficult to work with, has difficulty understanding instructions, is often timid and generally lazy. Difficult to cooperate in home, social and school life. Occasionally shows aggression towards objects and people. I need help with everyday activities. We were looking for a diagnosis for a long time. When he was 13, exome sequencing confirmed the Gabra1 mutation – Dravet syndrome.

Adas’s Mom

Dain

Dain

Mutation in GABRA1

Meet Dain. He is now 11 years old. Like all the other kids here, his journey and experiences are so unique. He appeared as a typical baby but started showing signs of not interacting with the world around him in a typical fashion around the age of 9 months. The journey that he and our family has gone on since then has been one of many ups and downs and usually a lot more questions than answers. What we have discovered is that Dain has a gain-of-funciton mutatoin in his GABRA1 gene, but rather than stopping there we continued to push for further diagnosis and testing and discovered that Dain has other genetic issues – some common and some not; but taken all together contribute to the many challenges Dain has.

Dain experiences seizures, developmental delays, cycle vomitting, movement disorders and requires assistance with all the normal day to day activities. We have learned to communicate with him through eye gaze. As his parents, we never stop advocating for him; constantly pushing our medical system and his doctors to think outside the box and to not just accept that there is nothing that can be done for him.

Dain´s Mom

Julia

Julia

Mutation in GABRB2

Julia was born on November 29, 2017 in England. Julia was classified as a sleeping baby from the beginning and did not want to eat. After several hours of unsuccessful attempts to put her to the breast, I decided to give her a bottle, which she vomited through her nose. This scared me terribly and I started observing her very closely. And I noticed that your hand was shaking and you seemed to want to open your eyes. After a few episodes, I asked the midwife if it was normal, she deserved to be recorded and so I did. After showing this, Julia was immediately placed in intensive care, initially for observation, where she underwent an EEG test which showed burst suppression, then she was put into a medically induced coma and given phenobarbital midazolate. I had a puncture done, a transfontanelle ultrasound and an MRI, everything came back normal. After waking up, she continued her daily activities but still did not wake up. In this hospital, they performed a basic genetic test on us, which also came back negative. In the meantime, they took us to another hospital where there was a neurology department and there, if I remember correctly, ACTH steroids were introduced, as well as numerous medications. Unfortunately, nothing worked and we tried the ketogenic diet, which we followed for over a year with no success. We find her gene mutation (GABRB2 c.850A>C; p.(Thr284Pro) ) through 100000 genomes project. Julia still has onset seizures. She not rich any milestones but we never stop hoping that one day she will be seizures free.

Julia´s Mom

Agata

Agata

Mutation in GABRB2

Agata was born in 2018 as a healthy child, at the 8th month of life the first two absentee and apneic seizures appeared, followed by dozens of myoclonic seizures a day. We went to hospital, where pharmacological treatment was initiated. Due to the temperature and flashing lights, my daughter had a large clonic-tonic seizure, which was difficult to control. Before her 2nd birthday, she started a ketogenic diet, which greatly helped our daughter’s development. Shortly afterwards, we received a diagnosis – a mutation in the GABRB2 gene. Currently, Agatka is a smiling 6-year-old girl, she can walk – but only to where she feels like. Myoclonic seizures remain, but it is mainly caused by light, she has to use her blue Zeiss glasses outdoors and in very bright rooms. We don’t go outside much in the summer. Agata says simple words: mom, dad, I want it, eye. She loves singing and instruments and the company of children and adults. We hope that in the future there will be a medicine that will control the epileptic seizures and thus help her discover the world better.

Agata´s Mom

Isla

Isla

Mutation in GABRA1

My daughter Isla has a GABRA1 gene mutation. She had her first seizure at 14months. Isla has hypotonia, and a developmental delay. Despite these limitations Isla is a remarkable little lady. She has recently started walking and has several words now. She is very bright, happy and has such resilience and enthusiasm for life. I’m so proud of how she has overcome the challenges life throws at her.

She is on regular seizure medication and her seizures are relatively controlled. Unfortunately they have not stopped entirely but are better than before. I’m hoping by sharing our story it will help others to share theirs. Most importantly help raise awareness and find support and answers for this rare genetic disorder.

Isla´s Mom

Ahmet

Ahmet

Mutation in GABRA2

When Ahmet was 6 months old, he still couldn’t hold his head up. In the following years, he was unable to do anything age-appropriate, had limited mobility, and had hypotonia. Now, at the age of 8, we have learned through genetic laboratory results that he has a mutation in the GABRA2 gene. He cannot speak, walk, move in any way, make eye contact, and his health deteriorates with each passing day. Since there is insufficient data in the literature regarding treatment, doctors do not recommend any specific treatment. Therefore, apart from controlling epilepsy with four different medications, there has been no improvement in our treatment process. In 2021, he spent a month in the intensive care unit due to severe blood gas issues, and his heart stopped. He underwent a tracheostomy surgery due to respiratory distress. For the past two years, he has been breathing with a mechanical ventilator and concentrator at home, and he is fed through a gastric tube. Due to all these reasons, we are hopeful for developments in research related to the Gabra 2 gene mutation.

Ahmet’s Family Member

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