Working together toward a cure
Natalie's Story
Natalie’s MYT1L journey began in April 2020. While a pandemic raged, Natalie’s birth was normal — normal weight, normal appearance. Within three months, her parents knew something was different about Natalie. She gained weight rapidly, reaching the 99th percentile, where she remains today. She was exceptionally fussy and hated to be put on her tummy. All her early milestones were delayed. She didn’t roll over until she was about 9 months old, and she didn’t sit unassisted until 10 months. Before her first birthday, she began early intervention with physical therapy and occupational therapy. These were very difficult at first, but with a lot of effort, Natalie started crawling at 16 months and walking at 22 months. Once she started walking, she started talking. Though delayed, she made great progress through speech therapy. It seemed like Natalie was progressing out of her earlier challenges when we received a diagnosis that floored us. At 26 months old, genetic testing revealed Natalie had two rare genetic syndromes, MYT1L Neurodevelopmental Syndrome and Sotos Syndrome. Our family was told that only 300 people in the world had MYT1L Neurodevelopmental Syndrome, and Sotos was one in 14,000. (Sotos shares many characteristics with MYT1L Neurodevelopmental Syndrome but is characterized by growth much faster than peers.) We wondered whether Natalie would have the chance to live a “normal” life, be accepted socially, do well in school and live independently as an adult. We were full of worry. There were practically no other kids around with her syndromes. Medical professionals were not familiar with them. Being the parent of a child with a rare disease, it often feels like you are alone. Finding the MYT1L Project has led to hope. Research is progressing toward finding interventions for MYT1L Neurodevelopmental Syndrome, and the Project is supporting that research. And the MYT1L Project has brought us a community of other families who are navigating the same road we are on. The road is challenging. Natalie has serious behavioral challenges. She gets upset and tantrums very easily, even as a 4-year-old. She has difficulty transitioning to different activities, is impulsive and lacks attention to where she is going. She hates having her hair brushed, and it is a daily struggle. She has autistic characteristics and a short attention span. Physically, she has low muscle tone, particularly in her legs. She needs the assistance of a handrail to climb up and down stairs. She walks with a wide stance and falls easily. She wears leg braces (AFOs) that improve her stability while walking. Natalie also has challenges with obesity. She has an adult-sized appetite, and asks for snacks between meals. Denying her food often leads to more meltdowns. We are still learning to navigate this. Natalie has a lot of challenges, but a lot of strengths as well. She is very social and doesn't know a stranger. Her vocabulary was evaluated as more advanced than her peers. She is observant, compassionate and has an excellent memory. She is doing well in her developmental preschool and is slowly but surely learning to swim with the aid of a special instructor. She is a social butterfly who loves to make new friends and play with her brother, Peter, who is two years older. We don’t know what the future will bring, but we are excited to be part of a group of people who understand.
Kayla's Journey
Kayla is 30 years old and has a de novo (non-inherited) 2p25.3 deletion that includes MYT1L, but she spent the first 18 years of her life without a diagnosis. I am her mom, and she is the second oldest person I know of in the U.S. with MYT1L syndrome. I would describe Kayla as engaging, conscientious, sensitive, and very determined to live a life that is as normal and independent as possible. In her more challenging moments, she can be impulsive, slow to complete tasks, and hyperfocused on minor details. However, she is working on these things and, at 30 years old, she continues to surprise us with her insights and maturity. Kayla grew up in New York, where I still live. She now lives independently with supports in Massachusetts, where she chose to remain after completing a post-secondary program at Riverview School in Cape Cod. But let me start at the beginning… I had a healthy pregnancy with Kayla, with only a few small bumps in the road. The first sign that something might be off was when the sonographer exclaimed (around the start of my second trimester), “Does this baby ever move?!?" But Kayla did indeed proceed to move increasingly as my pregnancy progressed, and I put this out of my mind. The next minor challenge was that at around 29 weeks, she was discovered to be in a breach position – a not uncommon scenario. My obstetrician expertly turned her through a process of pressure on my belly, and Kayla remained in a head-first position for the rest of my pregnancy. Finally, two days before my due date, it was discovered that my amniotic fluid had decreased. A decision was made to induce delivery, and Kayla was born a beautiful, healthy 6-pound 3-ounce girl the next day. In the first 1-2 months of life, Kayla was a good sleeper and an easy baby. I recall her earliest babysitter, an experienced mom of three, remarking to me and Kayla’s Dad, “You guys are really lucky!” After initial concerns about latching on, and weight loss in the first 3 days of life, she rapidly grew to the 75th and then 95th percentile by the age of 3-4 months. By the time she was 5 years old, her weight was well above the 99th percentile and remained that way for many years. After starting off as a particularly calm newborn, Kayla went through a fussy period later in infancy. From around 4 to 8 months, she would have periods of incessant crying late in the day, which we chalked up to “colic." She also seemed to need frequent attention, expressed through whining vocalizations, though I was told by family and friends that this was mostly when I was in the room. One babysitter said, "She's got your number!" I became concerned by her first birthday about slower-than-average motor development. I recall Kayla giggling on the examining table at the pediatrician’s office as he carried out her physical exam and I described my concerns. He reassured me, “She is a happy baby – happy babies develop more slowly.” And he added that whatever small delays might exist, “I think the end result is going to be a normal adult.” It was not until she was 15 months old and still not pulling to stand that her doctor suggested an evaluation for Early Intervention services. This led to a determination that she was at around a 10-month level in her gross motor skills and a 12-month level in her cognitive development. She was noted to be babbling well and to be socially connected, so speech development was not yet a concern. Physical therapy began, followed by one-on-one special education services, occupational therapy, and finally speech therapy after she turned 2 and was not yet combining words. Her delays were described at that time as “across-the-boards" and ranging from "minimal to moderate”. The most obvious delays were motor-related. At age 2.5, she was diagnosed with verbal dyspraxia, which was believed to be impacting her ability to articulate words. Her speech delays were viewed has having a large “motor component”, and her receptive language seemed good. During toddlerhood, emotional regulation was a challenge. Kayla often screamed suddenly over seemingly minor issues – sometimes issues we could not even figure out. I recall one instance where she let out a huge scream, for no apparent reason, up our family's entry to a restaurant. A friend who had not yet met our new toddler happened to be present, and I was, to be very honest, horrified. Hair-brushing was a daily struggle, and she could at times be rigid and insistent on things being a certain way. She was generally not hyperactive but could become so in public when bored or overstimulated. But she was also engaging with other children and well connected with adults most of the time. Any possibility of autism was immediately dismissed by her doctors because of her good eye contact and sociability -- though questions of this diagnosis re-emerged in her teen years. Kayla underwent genetic testing in 1997, when she was two-and-a-half. She was tested for Prader-Willi Syndrome and Fragile X Syndrome, both with negative results. I recall the geneticist saying that she was generally doing too well for other common neurodevelopmental disorders to be suspected, and that most other possibilities were associated with short stature. Kayla’s height was at around the 75th percentile. Kayla ultimately walked, talked, and transitioned from Early Intervention to a special preschool… then two years later to kindergarten in a special class within a mainstream school. From day one, frustration tolerance and distractibility were significant barriers to learning. We and her teachers celebrated joyfully when, near the end of first grade at school, she began saying to her teachers, “I’ll try”. The combination of a small classroom to support slower learning in academics, with opportunities to interact with mainstream peers in art, music, health, and other “specials," was just right for Kayla. She also received therapies (PT, OT and speech) at school. Through elementary and then middle school, she developed friendships and blossomed into a verbally expressive young woman who could read and write proficiently. While Kayla had started out equally delayed in all academics, she ultimately soared ahead in reading and writing while remaining very limited in her math skills. As Kayla grew, frustration tolerance and emotional regulation remained concerns. She could be hypersensitive to loud noises, bright lights, and to being touched accidentally by someone else. In high school we began observing that she was chronically late, usually by just a few minutes – a trait she possesses to this day. She became meticulous in her handwriting and took a long time to complete written work because of a need to constantly erase and re-write until she felt things were perfect. She sometimes over-personalized other people’s reactions. In her most frustrated moments, she would hit herself or an inanimate object. And she was often concrete and rigid in her thinking – with difficulty at times considering alternative perspectives. In her mid-teen years, Kayla began to withdraw and complain of a multitude of physical symptoms, resulting in a period of extensive evaluation by a gastroenterologist and rheumatologist. This ultimately led to diagnoses of IBS and fibromyalgia. It was suspected that anxiety played a role in these symptoms. Today, fifteen years later, Kayla remains hypervigilant about physical symptoms but has grown significantly in her ability to recognize and express her emotions. It remains unclear whether Kayla may have a true hypersensitivity condition as well. In my searches for MYT1L-related publications, I have encountered a reported association between fibromyalgia and the MYT1L gene - but this has not been studied specifically in MYT1L deletions or MYT1L Syndrome, to my knowledge. Like many people with MYT1L Syndrome, Kayla has had lifelong struggles with over-eating and weight management. Through very hard work, medication and daily exercise, she has reached the age of 30 at a healthy weight. However, I want to stress how much work this has taken, and how difficult these weight issues can be with MYT1L syndrome. Besides taking tirzepatide, which moderates her appetite, Kayla walks 4 miles nearly every day and works at maintaining a healthy diet. In childhood, her degree of obesity had become increasingly severe through her early school years until finally, at age 9, we connected with an endocrinologist who diagnosed "metabolic syndrome" (insulin resistance). Kayla began taking metformin which slowed her weight gain. She later started an injectable medication (Byetta, a predecessor of today's Wegovy and Zepbound) at the age of 14 or 15, and it was only then that she was able to reach a healthy weight. Once Kayla reached a healthier weight, most of the laboratory evidence of metabolic syndrome (high triglycerides, low HDL) disappeared, indicating that the metabolic syndrome was caused by, rather than a cause of, her obesity. We are extremely vigilant now to prevent weight gain, which can still happen very easily. Kayla and I reflect often on how much easier life would have been without this added concern. After completing 12th grade in her public school at age 18, Kayla left home to attend a residential post-secondary program at Riverview School, where she also participated in a community college program and gained work experience through internships and small part-time jobs. It was in the middle of her first year at Riverview, at age 19, that I decided to bring Kayla once again for a Genetics consult. Because I work in a clinical/translational research environment, I recognized the extent of advances in this area and thought that further testing might be worthwhile. Shortly after her blood was drawn and sent out for testing, I received a call from the geneticist indicating that they had found a 2p25.3 deletion that seemed to explain everything – both her lifelong struggle with weight and over-eating and her learning and neurodevelopmental challenges. My reaction to this news was mixed. While it was a relief to finally have an explanation for Kayla’s issues, it took some adjustment to accept the certainty of the genetic disorder. I suspect the diagnosis would have been much more difficult to process when she was a young child. At 19, she had already reached many important milestones, and the genetic basis of her condition did not change how we viewed her strengths and challenges. Kayla was still Kayla. At age 22, she left Riverview, moved into an apartment with a roommate, and began her independent living journey with the help of a supported independent living program. At that point, she had good basic life skills. She could cook, shop, take care of her personal needs and do her laundry. She could communicate well, use her smartphone expertly, conduct herself well in a job interview, and manage small amounts of money. And perhaps most importantly, her drive to live independently was strong – a trait of determination that Kayla has displayed since childhood. Growing pains in the early years of independent living were significant and revolved around online safety, dating, weight management, and maintaining a part-time job. It was, at times, a scary and tumultuous period for both me and Kayla – but a necessary one to get Kayla to where she is today. At 30, Kayla now lives in her own apartment (after deciding roommate living was not her thing). She has a learned to make safe choices when it comes to online interactions. She possesses vast knowledge of food and nutrition, and most of the time makes healthy dietary choices. She is reliable about reaching out to me or someone else in her support system when concerns arise. Excessive appetite and over-eating continue to be risks but are well managed, with supervision, through medications and her daily routines. She works part-time and gets herself up, ready for her ride, and to work most days – though she is still inclined to be “just a few minutes late” a little more often than we would like. She is in her second long-term dating relationship, loves her boyfriend, and would like to eventually “settle down." I am often asked if Kayla is really living independently and what a supported independent living program looks like; after all, some publications about MYT1L state that nobody with this condition has achieved independent living. (It is also the case that most people identified with MYT1L are not yet adults.) I will try here to be very concrete. Kayla lives in a regular apartment building, not in a group home or supervised living. She pays rent and a utility bill, takes out her garbage and prepares her own meals. She has friends who live nearby, but most of her neighbors are just regular renters. Most days, she is on her own to get up, exercise, eat, get to work and appointments, and plan her own social life. On weekends, she spends time with her boyfriend and, like most 20- or 30-somethings in dating relationships, she speaks with with him practically every evening by FaceTime. Her independent living supports consist of a total of 6-10 hours per week of one-on-one coaching (in her apartment or in the community) in areas like money management, apartment care, diet and exercise – areas where she still needs guidance and/or reminders. She has held her current job for nearly two years, but when she is seeking new employment, she receives support in that process (with funding from her state's office of vocational rehabilitation). This arrangement has served Kayla’s desire for independence well, while providing a support system within which she can continue to learn and grow. I have set up systems for Kayla that help her to do things more independently. Technology has helped a great deal. She knows what her monthly bills are and how to pay them. She can call an Uber when she needs a ride. She wears a smartwatch and carries her phone in case of any emergency while on her own in public. In an emergency, I can see her location on my phone. Though not a happy subject, we talk openly about a day when I may not be here to guide her directly, and I work at continually bolstering her knowledge and ownership of her finances and the services she needs and receives, so that in the future, she can be her own guide. Parenting Kayla through the transition to adulthood has required not only empathy, grit, and a healthy dose of risk-taking, but also careful navigation of a very complex system of funding and adult services. I would be happy to share our experience with others embarking on a similar journey. I hope that Kayla's story will offer hope for other parents and demonstrate that, in spite of significant challenges that come with a MYT1L Syndrome diagnosis, many things remain possible.
Extraordinary Presley
I absolutely first must tell you: Presley is extraordinary. She’s hilarious and personable, often asking thoughtful questions and going out of her way to be kind to the people she loves. Just the other day, she bought a cookie from her school cafeteria — not for herself, but for her 6-year-old cousin who was coming over after school. Presley carried that cookie around all day, holding it in her hand on the bus ride home, because she couldn’t wait to make her cousin feel loved. That’s Presley’s authentic personality: thoughtful, sweet and full of love. She’s 15 now and still has this playful, easygoing side of her that feels so pure. She loves coloring — really loves it. Markers, crayons, colored pencils — she has every version and hundreds of each. Her favorite thing is coloring while watching someone else color on YouTube. If she’s not doing that, she’s watching kids’ cooking videos. She’s a big fan of drawing hearts and has been collecting microphones for years — She was born to speak into them. Presley still loves playing with pretend food and Barbies, and her baby doll is her favorite sidekick. She holds onto these little joys, and it’s just so sweet to watch. It’s worth mentioning that Presley couldn’t stay still long enough to color until she started taking methylphenidate at age six. This medication allows her to calm down and focus, allowing her true personality to shine. She also takes several other medications daily, including clonidine, lamotrigine, and olanzapine, which are essential for her to function effectively. That said, it’s important to note that MYT1L kids respond to medications differently, and these are not the right fit for everyone. Presley’s personality is as big as her feelings. Because of her MYT1L variance, she struggles to regulate her emotions. A lot of the time, Presley is cheerful and delightful, full of friendly energy and joy. But when things go sideways, they can go steeply sideways. Her emotional outbursts can be intense, even aggressive, and they happen often. This can catch people off guard, especially those who only know her cheery side. Every emotion she feels is amplified. When Presley’s excited, her exuberance can become overwhelming. The same happens when she’s upset — whether angry, sad, or frustrated, her emotions can escalate to extremes. Presley’s huge feelings are the most difficult part of her MYT1L genetic difference. Her moods dominate the rhythm of our household, and the intensity can be overwhelming. There are times I’ve wondered how we’d even make it through the next hour. Her intellectual disability alone seems like it would be completely manageable if it weren’t for the extreme emotional and behavioral instability. Presley often complains of stomachaches; while we haven’t pinpointed the exact cause, I suspect her low muscle tone contributes to her quirky digestion. She also mentions leg pains and continues to have trouble sleeping. Night terrors are common—she’ll shriek out in her sleep every night, which I believe may be related to sleep apnea. Sneaking food into her bed at night remains an ever-present challenge! She can’t resist slipping anything into her bed that’s not locked up. Just last week, she smuggled an entire bunch of bananas, popcorn and two bags of chocolate chips into her room at 2 a.m., creating the most epic mess of sheets I’ve ever seen. The cleanup was, well, bananas — and the two bags of chocolate chips aren’t the best cure for stomach troubles! Looking back at photos of myself with Presley as a newborn, it’s surreal to think I didn’t know what was coming. Presley was born in 2009 and for awhile, everything seemed fine. She had some feeding troubles, but I chalked it up to regular breastfeeding challenges. It wasn’t until her six-month check that we realized something was wrong. She hadn’t rolled over yet and couldn’t support her head. Her pediatrician booked a same-day neurology appointment for Presley, and just like that, our lives took a turn. I hadn’t heard of low muscle tone before, but when I learned the term “floppy baby,” I knew I had one. And goodness gracious, was “tummy time” a struggle! Presley screamed face-down anytime I tried, and I assumed her delays were my fault for not coaxing her through it better. Presley started physical therapy, and I naively thought it would be temporary. But the weeks turned into months, and therapy appointments piled up: physical therapy, occupational therapy, speech therapy, feeding therapy. It felt endless. Presley didn’t roll over until 10 months, sit up until 12 months, crawl until 14 months, or walk until she was almost 2. But she got there. Every milestone was hard-fought and hard-won, thanks to her sheer determination and countless therapy sessions. When she was little, a developmental pediatrician told me it was uncertain if Presley would ever walk or talk. Despite that, she is both a walker and a talker! Holy cow, is she a talker. She always has so much to say. In kindergarten she would trace her finger along the wall in the school hallway to stay on course… Because it sure was a long walk to go straight! At 15, walking long distances is still tiring for her, and parking lots can be overwhelming because moving cars are so scary. Those early years were isolating and exhausting. Presley wore ankle braces to help her walk and drank prescription formula until she was three because she couldn’t swallow solid food — not even baby food. She used the most adorable baby sign language, though most of her signs were her own charming versions of standard signs. By age 3, she could articulate approximately 15 “words,” which were primarily sounds that only I could interpret. “Puh” meant “up,” “ooooh” stood for “open,” and “sssss” signified “sock.” The most delightful was “ho ho ho” for “Santa.” In speech therapy, these sounds are recognized as words, and each one was cause for celebration. Every single step was a triumph, even though it was a grind to get there. Her eyes didn’t always align; one eye would look up while the other looked out (strabismus). She also had a head tilt to the left (torticollis), though we never figured out why. The tilt isn’t as noticeable now, but during haircuts, we still share a giggle as I gently help her keep her head straight. Thankfully, her curly hair is quite forgiving, so precision isn’t paramount! She was also diagnosed with cortical vision impairment, meaning her brain didn’t fully process what her eyes saw, especially in her downward vision. She had a tonsillectomy after a sleep study revealed sleep apnea. Presley was later diagnosed as being on the autism spectrum, and her neurologist didn’t need formal testing to confirm ADHD. Presley’s neurologist and geneticist suspected a chromosomal disorder, but I held onto hope that therapy might help her catch up. I believed if I did everything possible, I could fix it. In 2014, Whole Exome Sequencing finally became available to us, offering a chance for answers. Prior to this, we’d been through numerous tests — MRIs, surgery for a muscle biopsy, multiple genetic panels — all of which returned normal results. In 2014, Whole Exome Sequencing was expensive and not covered by insurance, but I decided to splurge for the sake of answers. After 143 long days, the results revealed that Presley has a point mutation near the beginning of the MYT1L gene. Think of it as a single typo in a long instruction manual, causing the instructions to stop prematurely. It renders the gene nonfunctional. At the time, MYT1L was so rare that Presley’s geneticist said he could only see 18 people on record in the world who had been diagnosed. Google searches for MYT1L in 2014 brought up almost nothing. The geneticist assured me that someday testing would be more available and that I might find others with this diagnosis. He was right. In 2019, I found another MYT1L mom, Shayna, through Google. She introduced me to the Facebook group now called The Original 2p25 / MYT1L Family Community. Connecting with the parents in this group has been life-changing. Through the group, I had the incredible opportunity to attend the first-ever MYT1L Day gathering in Rouen, France, in November 2022. Organized with such care and passion by Valérie Salomone and her MYT1L organization, Les Extra-Valliats, the event was truly transformative. Meeting other families for the first time was a soul-filling experience. Among them were Kayla and her mother, Liz, the only other Americans there, and it was comforting to connect with them on such a deep level. Then, in October 2024, Presley and I traveled to St. Louis for the MYT1L Scientist/Family Collaborative Meeting at Wash U. For Presley, meeting other kids like her for the first time was magical, and seeing her form those relationships was deeply moving for me, too. At that meeting, a group of parents came together to launch The MYT1L Project, a foundation dedicated to strengthening the community further and funding research for a cure. These days, Presley is in a special needs classroom at our public school, working hard in her “Life Skills” program. She takes electives like theater, art and dance. She reads at a second-grade level, which might not seem like much to some, but it’s a big deal and super useful to be a reader! Her core classes are tailored to her abilities, but they can still be draining. Math is especially tough for her, though the concepts are fairly basic. She’s a fighter, and her teachers, therapists and our extended family have poured unending love into her. I’ll never stop being grateful for the lovely people that have helped her grow. Presley works harder than anyone I know just to keep up with the world. I couldn’t be prouder of her. She is a gift —beautiful, bright, and brave. I love her to pieces. 💛 Presley's Mom, Katie
Edward
My name is Elizaveta. My son Edward was born in June 2020, in the midst of the pandemic. He is our first-born child. Before my pregnancy with him, we experienced a miscarriage, so Edward is also our rainbow baby. My pregnancy with Edward was mostly uneventful, except for a bleeding episode in the 10th week. It was a frightening experience, but thankfully, the baby was unharmed. We were reassured by doctors that such incidents can happen and that there was no cause for concern. Edward was extremely active in the womb, constantly moving and turning, especially towards the end of the pregnancy. He was born full-term at 40 weeks and 2 days. I had to be induced, and the delivery process was long and painful. After 36 hours, Edward was delivered vaginally, weighing 8 pounds and 12 ounces. In the weeks following Edward’s birth, I began to notice a lack of eye contact. He was a calm baby, sleeping through the night and eating well. While I had planned to exclusively breastfeed, it became necessary to supplement with formula as he was constantly hungry. Edward gained weight rapidly and remained above the 95th percentile throughout his toddler years. By the time he was 4 months old, I grew increasingly concerned about his lack of eye contact. At 6 months, Edward began sitting independently, but he didn’t start crawling until he was 11 months old. I attributed this delay to his weight. He showed little interest in toys but loved water and ceiling fans. Alarmed by these signs, I sought medical advice from a developmental pediatrician, neurologist, and ophthalmologist. At that time, we were stationed in a rural area of Oklahoma due to my husband’s military service, limiting our access to resources. Fortunately, we moved back to Long Island, NY, when Edward was 20 months old and had just begun walking. Shortly after our move, Edward was diagnosed with autism spectrum disorder (ASD). His diagnosis surprised me because he is a highly social child who loves being around people and making friends. After he started walking, we shifted our focus to addressing other developmental delays, such as speech. Although Edward was very vocal, his sounds were atypical—high-pitched noises rather than regular babbling—and he didn’t say his first word until age 2. Following his ASD diagnosis, Edward began an Early Intervention program. He received applied behavioral analysis (ABA) therapy, speech therapy, occupational therapy, and physical therapy. At 2 years old, he attended a daycare for children with special needs, where he had a one-on-one aide due to unsafe behaviors. Edward struggled with impulse control and occasionally pulled other children’s hair or hit them without warning. While he was not aggressive by nature, he found it difficult to understand social rules. When Edward was a little over 2 years old, his sister Gabby was born. Managing Edward became increasingly challenging as his tantrums, self-injurious behaviors, and aggression escalated. Despite his difficulties, he showed a keen interest in his baby sister and actively participated in family activities like cooking and walking the dogs. Edward was attentive and often upset when people left the room, especially his grandmother. At age 3, Edward underwent genetic testing and was formally diagnosed with MYT1L syndrome. The diagnosis brought clarity as his symptoms—developmental delays, late walking, overweight, vision issues, sensory processing difficulties, and severe speech delay—aligned with the clinical profile of MYT1L. While it was overwhelming to learn about his condition, it provided answers and a sense of relief. Today, Edward is 4 years and 7 months old. He attends a special needs school and has about 20 functional words, along with some sign language. His weight is now within the normal range, and he is physically healthy. Edward continues to receive speech therapy, occupational therapy, physical therapy, and ABA both in school and at home. He also enjoys swimming lessons and trampoline parks. Edward loves outings, particularly taking the train to Manhattan, which is an hour from our home. While his receptive language is delayed compared to his peers, he is aware of his surroundings and knows how to request help. He eats a variety of foods, and we strive to maintain a clean diet for him. Recently, we connected with another family whose son also has MYT1L syndrome. Observing the similarities between the boys has been enlightening. Despite the challenges Edward faces, we remain optimistic about his future. He is a happy, outgoing child with a wide range of interests. We are eager to learn more about MYT1L and connect with other families navigating similar journeys. Through a Facebook support group, we’ve met amazing families from around the world and are incredibly grateful for their shared experiences and support.
Meet the AMAZING...
Jackson
Jackson was diagnosed with a de novo MYT1L variant at age 9. He is about to turn 15. He loves music, sports and anything with a motor. He is social and funny. Jackson is currently in the ninth grade where he enjoys unified sports like basketball and archery.
Serena
It is 10 years since my daughter Serena was diagnosed with 2p25.3 microdeletion affecting her MYT1L gene. At that time, I felt totally alone and had very little information about this genetic condition. The medical professional that broke the news to me did so on a phone call, with no preparation and there was no support available. I remember feeling devasted when I ended the call and not knowing where to turn to. Through a lot of online research I managed to connect with a charity in the UK and to find a small group of parents on Facebook. In order to promote awareness I agreed to an article in a local newspaper in the UK that then was picked up by various news outlets across the world. As a result of this, many people have contacted me throughout the years and I have been able to signpost them to the most up to date research. We thought it might be useful to share this article and to provide an update as to how Serena is now. When I re-read the article for the first time in nearly a decade, I was surprised by both how much Serena has progressed and what she still struggles with. Serena is now 17, she attends main stream school in the UK and is supported by a full time teaching assistant for all of her lessons, with the exception of PE. One day per week she attends an agricultural college where she is completing a course in animal care. As she is in a main stream school she is expected to complete the standard UK exam programme of GCSE’s and we have had to battle to reduce the number of subjects that she takes as there are very few alternatives within the education system. Serena really struggles with accessing exams and needs a reader and scribe to be able to complete them. She is also given extra time. Serena is currently unable to achieve pass marks in her exams but is amazing and is able to answer some of the questions correctly. Many people who meet Serena initially don’t realise that she has severe learning difficulties. She is very bubbly and chatty, has an innocent, playful nature and is short in stature (5ft) and so she is often mistaken for being younger that her age. When she was younger it became apparent quite quickly during a conversation with Serena that she was struggling to process what you were saying. Conversations would be very one sided and although Serena could give a simple statement in answer to a question, she was unable to have a two way dialogue that went into any depth. She would describe her day in a single statement and was unable to converse about what had happened. That was until 18 months ago. I can remember clearly one evening when Serena had had a bath. She came downstairs and started chatting to me in the lounge and was able to describe in great detail a programme that she had watched on TV the night before. I was truly astounded. It was the first ‘conversation’ that I had ever had with my daughter. It was so significant that I recorded her on my phone so that I could share it with family members so that they could hear what she was capable of. As with many previous developments in Serena’s life, there has always been a pattern. She would make no progress for 6 – 8 months and then all of a sudden there would be a flurry of developments all together and then nothing again for 6 – 8 months. This was similar with her expressive language. The day after the conversation outlined above she was unable to communicate in the same way. But, a week or two later it happened again and then more frequently until it became her normal way of talking. Her fluency of language and use of words leapt forward and has helped her massively. I asked Serena about this both at the time and since to find out if she could describe what was happening. Serena explains that some days it feels like things in her brain aren’t ‘firing properly’ and she is unable to make connections. She says on those days it feels like her brain doesn’t work. But on other days she feels it works well and she find the words to express herself. I can often see this when I am talking to Serena, as it is clear that she is searching for a word that will not come. We find that it helps her retrieve the information if I say out loud the first letter of the word. Each child with MYT1L has slightly different symptoms that are unique to them, but as a result of research we are now aware that there are a lot that are the same. Serena has been diagnosed with the following: Dyslexia Visual Processing Difficulties Dyscalculia Dysgraphia Global Developmental Delay Dyspraxia Hypermobility When Serena was younger she struggled with her fine motor skills. Picking small things up, threading beads, holding a pen were all very difficult. We spent a lot of time developing these skills through games and even exercises provided by Occupational Therapy. Despite these difficulties Serena has always been good at sport and has strong hand-eye coordination and loved to play football, badmington, basketball etc. She struggles to follow the detailed rules of the game but is very good and throwing, catching, hitting a ball etc and does well in PE at school. Writing was particularly difficult for Serena when she was younger and she would write large and small letters on different parts of the page. It took until she was in high school for her to be able to write on a line, leave spaces between words and more recently to make her letters smaller. Her writing is still very hard to decode and she finds it very tiring. Therefore she has a scribe in school. Reading has also been very difficult and the issues that I described in the article 9 years ago remain. New words do not imprint in her mind, but she has developed recognition of many high frequency words and is able to read simple stories with more fluency. Reading is not something that she enjoys as it is very tiring for Serena. However, coloured paper or filters and glasses have helped the severity of the visual processing issues and stop the words ‘running down the page like water’. Personal independence is very important to Serena but she is very scared to leave the house alone in case she gets lost. She would not be able to follow directions or a map, cannot get a bus alone, cannot go shopping with friends without an adult being nearby to order food or drinks for her etc. She contacts friends online but is still vulnerable and not always able to identify risks. Therefore we carefully screen who she has contact to online. Serena continues to progress and develop at her own pace and it is remarkable how far she has come in the last 2 years. It’s very exciting to watch her mature, learn new skills and express herself and we are very optimistic about her future at college and beyond. For those of you with younger children who may be feeling overwhelmed. I wish that reading this will give you hope for your child’s future. The biggest piece of advice what I would have liked to have been told when she was younger is that I had to set aside expected milestones and not compare her to anyone else. It seems to me that Serena’s brain needed to develop at its own pace. Having extra support, physiotherapy etc. helped but it was a very slow process that she needed to go through without any pressure in the most supportive, calm, and organised environment as possible.
Adleigh
Hello. My name is Kathryn, and my daughter is Adleigh. Her friends, teachers, and family call her A.J. for short, and this is our story… The year was 2014 and my husband and I had just found out I was pregnant with another baby. We were over the moon, as we had been trying to get pregnant for a year. Apart from extreme nausea, the pregnancy seemed completely normal. We had absolutely no concerns, until our gender reveal ultrasound. As a person in the health care field, I could tell by the sound of the ultrasound technicians voice that there was something to be concerned about. My husband was not with me on this visit, as this was my third pregnancy, so I called him immediately to let him know of my concerns and that we were having another beautiful baby girl. It was on our next office visit that the doctor informed us that there was a possibility that our baby was going to be born without ocular sockets. He told us not to worry, and that technology is often wrong, and we would get another ultrasound in 3 months’ time. When 3 months passed, I went in for another ultrasound. Our hearts were broken when we discovered that the ultrasound resulted in the exact same way. Our daughter was going to be born without eyes. The remainder of my pregnancy was all about research and how to plan. During 34 weeks of pregnancy, my water broke at home. Our little Adleigh came into the world via c-section at 5 pounds, 10 ounces, 17 inches long, and with two beautiful bright blue eyes. Our prayers had been answered! A lot of tears were shed that day. Her prematurity did not affect her in any way. Early on, we noticed that Adleigh cried a lot more than our other babies had. She did what we call “crunches,” and she also didn’t sleep well. She would take naps, however they would only last about 15 minutes. She would also projectile vomit breastmilk in large quantities. I expressed my concerns about this to her pediatrician and he ordered an Upper GI to ensure there were no complications. The testing came back as normal. At about 6 months of age, I started to notice that Adleigh was not making her milestones. She could not roll over or sit without assistance and months later she was not crawling or walking. This did not worry me too much, as she had a lot of siblings to carry her around and play with her. I just assumed she had them wrapped around her little finger. It was not until it was time for her to start talking, and she did not, that I really began to get worried. To assist Adleigh with milestones, Adleigh’s dad and I decided to enroll her in a preschool program. For her to be accepted, she had to have a preschool screening. At this screening, it was discovered that she had an ear infection which she had just finished an antibiotic treatment for. The speech therapist at this screening informed me that Adleigh was forming the simple words that she did know by reading lips. Later that day, at the doctor’s office, the doctor told me that Adleigh had fluid built up in her ears causing her to have chronic ear infections, delaying her speech. It was shortly after this that Adleigh had surgery to have tubes placed in her ears. Her hearing improved exponentially after this, and she began to speak in sentences. Living in rural Kansas can sometimes have its fair share of problems when it comes to healthcare. It took us a year to get a referral for a pediatric specialist, and then another year before we could get an appointment. At this time, Adleigh was 5 years of age. At my request, the doctor agreed to genetic testing as a result of her global delay and a significant weight increase over the past year. This test took place six months later and then another six months before we received any results. I remember the call very well. We were driving in the car, and the specialist asked me to pull over so we could discuss it in a safe environment. The results came back that Adleigh had a deletion in chromosome 2p25. Unfortunately, the specialist could not give me any more information in regard to this, because she had no information on the condition. The only thing that she could tell me was that Adleigh would be legally disabled and need further appointments to discuss therapy. I remember feeling happy that we had answers yet discouraged because there were no resources for assistance. It was not until I found the 2p25/MYT1L Family Community that our lives really started to change. Suddenly there were families just like us that had been through situations just like us. It was wonderful. I was able to use all the information I had learned from the group and bring it back to her doctors, teachers, and therapists. Adleigh is now nearly 10 years old and is in the 4th Grade. All love her. Everyone in our small town knows her, so I have no fear of her playing outside with friends or swimming at the local pool with her aunt, sister, cousin, and nephews. For the most part she is a happy, loving child. Truly kind, generous, always thinking of others, and loves to play jokes. Her personality is like no other I have ever met. She can be such a jokester. Today her big joke was having me say words without touching my lips together. We laughed and laughed. She has her moments throughout the day when she gets overstimulated, but we have learned to recognize that and help her through those situations. We have found that her behavior is worse when I am around versus just her dad. It has been told to me that this is because I am her safe person, and this is her way of unwinding from the day. As the years have passed, I have adjusted to this behavior and have learned to redirect her by reminding her that I am also a person, and I don’t like her behavior towards me. This usually works. As far as violent behaviors, Adleigh does not have them. She does have episodes where she gets angry and she will shake her fist at a person, but she has never had a physical altercation with another person. She has what I like to call a fixated personality. If she has her mind set on something, she will not let it go, stop talking about it, or asking about it. She has always had this trait. She is also a person of daily routine. Getting off routine will cause her to have behaviors, so we try to stick with a daily routine as best as we can. One of the things that I have noticed about Adleigh is that she is “sticky” or “a bull in a China cabinet.” She cannot walk into a room without making it a mess. If she walks past something, it is going to end up on the floor. She does not have the ability to assess distance between her body and items in her surroundings. She has her own bedroom, filled with her own toys, but she still likes to climb into bed and sleep with me at night. She loves to snuggle. Sucking her thumb when she is tired is still an issue that we struggle with daily. She tells me that it makes her feel more comfortable and relaxed. As for school, she has her own individual curriculum, with her own teacher’s assistant, or para, in the classroom. Her teachers and I prefer it this way. This has allowed her to grow with her classmates and prevented her from being excluded. Her day includes classwork (she is at a Kindergarten grade level), speech therapy, occupational therapy, physical therapy, swim therapy every Wednesday. One thing that I have noticed about Adleigh is that even though she is significantly educationally delayed, she has a memory like an elephant. She remembers things from years ago that I had long forgotten. This year I am going to speak with her team about advancing to verbal education. I should mention that at Adleigh’s school, she is allowed to leave the classroom and go to a quiet area to desensitize whenever she needs. Most days she loves school, however there are days when she feels that her curriculum is a bit “boring.” She has even mentioned that it can be a bit confusing. There have been a few other modifications made for Adleigh upon my request. She has her own bathroom with a bidet attached to the toilet. She has a modified diet, and she takes her own lunch to school every day, so she also has her own refrigerator at school. The bus comes directly to our driveway to pick her up versus a centralized location, such as a bus stop. She prefers this versus being driven to school by a family member. She likes being independent. One thing that I try to focus on is that education is not everything, enjoying this beautiful life that was given to each and every one of us is. Thank you for taking the time to hear about our journey and I will leave you with this statement, “Strength lies in differences, not similarities.” Stephen R. Covey