Lennox is 2.5 years old. Everything about pregnancy and delivery was normal and up until about 6 months, things went very smoothly- he was happy, healthy and seemingly growing. At 6 months, he wasn’t sitting independently, in fact he couldn’t even tolerate tummy time due to not being able to lift his head or push up to arms. He wasn’t reaching for or grasping anything and kind of seemed absent. He wouldn't answer to his name, look in the direction of any noises or even be startled when loud noises were next to his ear. We referred to him as our “chill” boy who was easy as could be. With all of this, we were able to get him started in OT/PT at 7 months and he was diagnosed with a Global Developmental Delay. We had vision and hearing screenings- all normal. We had brain MRIs and the non extensive genetics testing done- all normal. We still always felt like there was something more to him, however we remained hopeful that he would just “catch up” to his peers. At about 1.5 years, Lennox had his first seizure which encouraged the extensive genetics testing and EEG. With that, came the diagnosis of epilepsy and MEF2C. As parents it hit us hard and we were in shock and disbelief. We weren’t given any formal information about it or told anything about his mutation- other than the GENX paper that was uploaded to our health chart to which I still don’t fully understand. That's when I went to the internet and found this group. Lennox cannot crawl (but getting closer), cannot yet walk or stand independently, can’t feed himself, or talk. He goes to OT, PT and speech therapy 4x a week and we meet with our birth to three educators weekly. Lennox has taught us so much about life and given us a new perspective on many things. While we wish so badly that he acted like a typical 2 year old, we can’t help but just celebrate ALL of his inchstones and be amazed at his resilience and strength to persevere through all the hurdles in his way. While he is unable to do so many things we long for, one thing he does for certain is melt our hearts. He gives the best and tightest hugs, has the purest whole face smile, and the most sweetest giggle in the world. He has grown so much and continues to make small gains quite often. We are excited to see what he continues to accomplish but even more hopeful for treatments that can aid in that process. We will continue to be his biggest cheerleaders and advocates and face the challenges head on.

Valentina was born without complication or incident. She passed all newborn screenings and took to eating and sleeping pretty easily. We started to notice her eyes were crossing and she was not meeting milestones fairly early. We thought her eyes were the cause of her delay. She was diagnosed with strabismus and she got surgery at 7 months to correct it. Post surgery she continued to be delayed and she had low muscle tone. Though we continued to hope it was all due to her strabismus we pursued a further diagnosis seeing a neurologist and ultimately a geneticist. Valentina was diagnosed with a point mutation of the MEF2C gene at 15 months after copious testing. This truly felt like the shock of a lifetime. Our doctors had never seen another case like ours and were reading us the same articles we had found online. The hardest part about a diagnosis like this is all of the unknown. As a parent or caregiver you are told the worst, but only time will unveil the extent of your child's abilities. We have had OT services since she was 6 weeks old and we also see a speech therapist. As she gets older we are adding on additional therapies and intensive programs to give her the best chance at overcoming her obstacles. Valentina is pure love and happiness, she is easy going and always in a good mood despite all of the hurdles she faces on a daily basis. To know her is to love her. We believe that she will surpass all expectations of her diagnosis whether it be on her own or with treatment. We will never stop being her number one cheerleaders and advocates.

When Demi was 6 months old, she stopped meeting developmental milestones and began to have tonic clonic seizures. With intensive physical and occupational therapy Demi began to sit up at 10 months and learned to walk without a gait trainer just before 3 years old. She is learning to use an Augmentative and Alternative Communication (AAC) device to communicate her wants and needs, wears Supramalleolar Orthoses (SMO) braces for foot and ankle support and is not toilet trained. She learned to drink through a straw this year and is working on self-feeding. Demi is 8 years old, non-verbal, has epilepsy, hypotonia, strabismus, autism, and intellectual disability. She is a very happy, easygoing girl that can be a bit “cheeky” when she wants to be. Demi relies on assistance for all of her daily living skills and will never live independently without a successful treatment or cure.

This is Eon. We first met him as a typical, beautiful baby boy who loved music. He had hypotonia, which didn't alarm his pediatrician at first. But by his first birthday he was noticeably behind on milestones and we started genetic testing. Ten months later, a whole exome test found a rare mutation on the MEF2C gene. We were told there were fewer than 60 individuals in the world with this diagnosis, and that Eon would not walk or talk, and that nothing could be done for him. We soon found a Facebook group of other MEF2C parents, an amazing community that prepared us for Eon's first seizure, therapies and development. Eon is 6 now, and loves playing on the piano. He brings joy to his teachers, therapists and bus drivers daily with his infectious giggles and laughter, when he's not running away from them. He still has a long way to go with speech and fine motor skills, he often makes progress but then regresses. But it's mind-blowing that with recent advances in gene therapy for other diseases, that therapies for MEF2C can be developed in the next few years while he is still young.

At around 8 months we started noticing Will was not meeting significant milestones, or they were very delayed. He wasn’t sitting up unassisted or grabbing things with his hands. His eyes were also crossing more than they should after 3-4 months old. We said to ourselves, “don’t worry, he'll figure it out,”when deep down we knew there was something more. As it turned out there was something to explain Will’s developmental delays, with a diagnosis of a MEF2C mutation in Nov 2018. We were told by doctors that Will may never walk or communicate and would likely develop epilepsy along with a slew of other medical conditions. Flash forward 4 years- Will can run, navigate steps, and he is beginning to communicate with a few signs and learning more on his iPad “talker”. He has also been diagnosed with complex febrile seizures, global developmental delay, Autism, and CVI, and now has a few surgeries under his belt (2 eye surgeries and a hernia surgery). Those first 2 years of life were very rough. We lived in Cincinnati Children’s uncovering new discoveries every month. Through social media we’ve learned more about this disorder and what he is capable of, from 300 other parent advocates, then we ever would have through clinical diagnoses. All this said, Will is the happiest little boy you’ll ever meet, and his smile and infectious laugh can light up a room. We take everything day by day, and continue to learn more about him and ourselves in the process.

The first few years of Liam’s life were filled with concern. He was born with jaundice, had to wear a hip brace for over 2 months 24/7 and needed two surgeries related to cryptorchidism. At first we attributed his profound motor delays to the hip brace, but when he was unable to maintain a grasp at 9 months we knew something was wrong. Liam has hypotonia in his trunk and hypertonia in his extremities. He was not able to sit up until 12 months, to crawl until 2 years, to walk short stretches at 3.5 years, and he is gradually learning to pay attention to his surroundings, without engaging in constant self stimulating behaviors. Liam uses Prologue to Go on his iPad to communicate and he has learned to say a few words. All of the developmental milestones that others take for granted have been painfully difficult for Liam. He has visual and language processing issues, but he is a happy boy with a contagious laugh and spreads joy wherever he goes. Liam works so hard with the hand he’s been dealt and his therapists and teachers love working with him. He is a sweet sweet boy and always available for a kiss or a hug, especially when he wants to avoid a difficult task. Liam requires 1-1 assistance with all daily living and self help skills, and likely always will, unless we are able to find treatments and a cure.

Our daughter Myra is now 6 years old but when you talk to her you will realize she acts like a 3 year old toddler and talks like 1 year old baby. She is a happy girl and proud of the smallest of the things she achieves in the day. She was diagnosed with a MEF2C variant when she was around 2 years old. It was very difficult to hear that she will need help all her life and be dependent on others for most of her needs. She had her eye surgery for strabismus at 18 months and struggled with digestion, chewing, walking and sleeping untill she was 3. We have always tried to give Myra a similar life as her sibling and tried our best to make her feel happy and cared for. I think Myra has hidden potential and with help she will be able to overcome many challenges and hopefully she will lead her own life one day. We have started to believe that there will be a medical miracle in the near future and it will help Myra immensely.

Teegan is 2 years old. She was diagnosed with MEF2C when she was 18 months through genetic testing. Teegan was very little when we noticed she wasn’t tracking or following anyone, and that is what started our assumption that something was not right. She had many different tests done before her genetic diagnosis was discovered. She started many different therapies when she was around 9 months and those have helped her so much! Teegan is the happiest kid ever and is always smiling! She goes with the flow getting brought to all her sisters’ sports and activities. Teegan is always a fan favorite! We are staying positive and believing that there will be a treatment for Teegan to allow her to do many things that her sisters can do! Currently, her goals through the various therapies are to start crawling, eventually walking, and learn how to communicate her needs.

Natalia is 8 years old. When Natalia came home from the hospital we thought she was a healthy baby. When Natalia was 6 months old she had her first seizure. This seizure was the beginning of our journey in the healthcare system. We noticed her eyes crossed, and were told that once her eyes were fixed her development should catch up. Her development did increase after the surgery, however it has never caught up with the expected milestones. Eventually, a genetic screening was complete, and we found out she had a deletion at 5q 14.3. This deletion would make it so she would never likely walk, talk or read. Natalia can now walk independently. She always needs someone with her, as she does not understand safety issues. She is non-verbal, but uses an i-pad with a special program to communicate some of her basic needs. She is working on toilet training, and with frequent visits to the bathroom she has had limited success. She loves toys that light up and music. She gives the best hugs. We have met with researchers on both sides of the US, and are very hopeful for the therapies they are working on. We understand time is not Natalia’s side. We hope a medication will be available before she is too old to see a benefit.

From a very early age, Darwin was different from other children: despite a relatively uneventful pregnancy and delivery, by a few months of age he was not meeting developmental milestones like making eye contact and grabbing at objects. He struggled with feeding due to low muscle tone, and his parents despaired as they struggled to determine the cause of his delays. Darwin is lucky enough to live in Massachusetts where access to special needs services and support is readily available, and he was enrolled in early intervention therapies at eleven months of age. When his family received Darwin's diagnosis — a microdeletion on the MEF2C gene — they were told he would never speak or be able to live independently. Today Darwin is nearly five years old and lets his wonderful personality shine! He is a happy, snuggly ball of energy who loves all things cars and trucks. Since his diagnosis, Darwin has undergone corrective eye surgery and thousands of hours of therapy to help him learn to walk, climb stairs, and communicate basic needs with an AAC talker tablet. Darwin's limited comprehension of the world around him always poses a safety risk, and he requires 1:1 accompaniment at all times to ensure he does not elope and endager himself. Darwin's family hopes that treatment may become avilable in the coming years for his condition so that he may experience a more complex, independent life.

When Audrey was three months old we noticed that she struggled to hold a pacifier or keep her thumb in her mouth. As time progressed, she started to miss other developmental milestones, like babbling, rolling over, sitting up, and crawling. She would also not respond to her name or follow simple one-step directions. After many doctors visits and countless tests, we were advised to complete a whole exome sequencing. In November of 2021, Audrey was diagnosed with MEF2C related disorder. She also has hypotonia, macrocephaly, cortical thumbing, and autism. Her doctors told us there was no way to predict what other challenges she may have and to expect seizures. The only thing they could tell us with any confidence was that she would never live independently. With intensive physical, occupational and speech therapy, Audrey started crawling at 15 months and taking small steps at 2 ½ years. She absolutely loves the music on Star Trek and this is often used in her PT sessions to motivate her to move! She is a sweet, silly girl with a smile that lights up our world. Although Audrey continues to make slow progress, she still faces significant challenges. She requires 1:1 care for all daily activities and she is non-verbal. Her biggest challenge remains communication. Despite these challenges, she remains an inspiration to her family and has taught us a love like no other.

Chloe was not meeting early childhood milestones like her sibling. She was diagnosed with a complete MEF2C deletion at the age of 10 months. Other diagnoses include myoclonic seizures, global developmental delays and CVI (cortical visual impairment). Chloe has surpassed many of her medical team's expectations through regular attendance of traditional and nontraditional therapies. Current and past therapies include private physical therapy, aquatic therapy, occupational therapy, speech therapy (AAC communication) and feeding therapy. Chloe has participated in conductive education and therapeutic horseback riding. While attending school full time, Chloe receives school based physical therapy, occupational therapy, and speech therapy. A teacher for the visually impaired (TV) and orientation and mobility specialist (0&M) supports her school based therapy and educational teams.

Claire received a diagnosis of a MEF2C mutation when she was eight years old, following years of tests related to her developmental delays and epilepsy. Claire’s first seizure occurred at 13 months of age, marking the beginning of her continuous journey of medical evaluations and support. Despite the challenges posed by this mutation, Claire is a verbal and active child, and we are so impressed by her remarkable determination and resilience. Our family remains profoundly hopeful for a cure, not only for Claire but also for all the children affected by mutations on the MEF2C gene.