Liliana has an infectious, bright energy. She has never met a stranger, and will offer hugs (or “uggs” as she pronounces it), to anyone willing. Liliana started therapy at 4 months, was diagnosed with global developmental delay at 9 months, and now we stay busy with multiple therapy sessions weekly at almost 3. We once wondered if she would ever walk or talk, but she has since proven she may do most things on her own time. She started walking at 27 months, and now we often wish she would be still, for even a moment. She loves her duplo blocks, music, and all things movement. At home she is almost constantly talking, at a pace of a mile a minute that goes along with everything Liliana. She so wants to do everything her peers and big sister do, but struggles with hypotonia, inattention, motor planning and balance. She has taught us to be patient, and we have learned to reevaluate what’s important in our lives. At such a young age, there is so much about her future that remains unknown. We take comfort in knowing her social, outgoing soul will carry her far, and find hope in research that may one day benefit her and other DLG4 families.
Myles is the happiest/ most friendly 2 year old ever! He loves meeting new people, playing outside, going on walks, playing with his sisters and “Aunt Mimi”, bath time, and school. He doesn’t like when anyone he is having fun with has to leave. He loves blueberries, green peas, turkey sausage and yogurt. He loves music and dancing (especially with his big sister), and his favorite song is “Steal the Show” from Elemental movie. His favorite shows are Mickey Mouse Clubhouse, Bluey, and Miss Rachel. His best friends are his sisters, his “Aunt Mimi”, and Gaga. The DLG4 research foundation gives us so much hope for Myles’s future and for the futures of other kids with this disease. With the expansion of knowledge of DLG4, testing will hopefully become more accessible, and treatments will be created.
Charlie is a friendly, inquisitive and fun loving 8 year old boy. He loves live music of all types, watching all sports and amusement parks. He is in second grade in a multiple disability classroom and continues to make progress. He also receives speech OT and PT. Outside of school he recently learned to swim and does OT at a barn where he gets to ride the ponies.
Charlie has received multiple diagnosis over his life linked to his DLG4 truncation including hypotonia, ADHD, accommodative estropia, and mixed expressive receptive communication disorder. His fine motor skills are immature due to the underdeveloped muscles in his hands It is often difficult to determine how to set goals for Charlie as he often needs multiple supports to accomplish. There is also a significant difference between his efforts on preferred vs non preferred tasks. He will struggle to hold a pencil, write letters but will pick up a guitar and strum like a champ. It gives me hope that with the right amount of interest and significant repetition he can accomplish things. I’m hoping this foundation can help find medicines that stimulate or mimic the protein need.
Adnan is a wonderful boy who loves climbing, singing, and playing with his younger sister. He is also severely affected by DLG4 Synaptopathy, a disorder caused by a mutation in a gene called DLG4, that has left him without the ability to learn in the same way that a typical child would learn. He is unable to communicate verbally and can become overwhelmed by sensory input and the unpredictable environment around him. Despite these differences, Adnan is so happy and loving, that his smiles, hugs, and beautiful singing voice bring joy to everyone that meets him.
In 2014, Adnan was born premature and spent 3 months in the neonatal intensive care unit. He spent years working hard to learn how to eat, walk, and talk with the help of many pediatric rehabilitation specialists in PT, OT, ST, feeding therapy, and ABA therapy. Initially, it was thought his significant developmental delay was caused by prematurity. However, he had a remarkable ability to read (called hyperlexia) before the age of 2 that we later learned was highly suggestive of autism that was caused by something other than prematurity.
At the age of 4, he regressed and lost all of his verbal communication.
In 2022, by sheer luck Adnan had a new DNA test that found the cause of his autism. Adnan’s neurologist told us a paper was published just the year before that linked a mutation in the DLG4 gene to autism, epilepsy, and intellectual disability. She told us that there are no known curative treatments but that someday Gene Therapy could cure it. However, the burden is on parents with children affected by this disorder to seek out researchers worldwide to develop treatments and to raise money to fund the development of the medication and the clinical trials that are needed to safely administer the medication.
Life with Lilianna has its challenges but without her our family would not be complete! Lilianna has two older brothers and makes it a point to be involved in every wrestling match there is.
She keeps her brothers in check as well as the rest of the household, including our golden doodle. Lilianna loves to sing, dance, swim, ride horses, being around people and having a conversation with just about anyone. Lilianna struggles with costumes of any kind, loud noises, sudden changes to her routine and anxiety. This leads to repeated questions and “fitting in” with her neuro typical peers.
My hope is for a treatment that will allow Lilianna to experience a life full of more possibilities and less restrictions due to her disability, and lastly relief from all her symptoms so she is able to connect and verbalize all that her mind and body are feeling.
My daughter Noah Lynn cried 24/7 and pulled hair out of her head when she was a baby. It was terrible. The only thing that helped was driving her around day and night. She is now 5 years old and for the past 1.5 years it is getting better.
She finally sleeps without banging her head, screaming and pulling her hair. But our little lady is doing great now she is a very happy girl who likes to go to the KDC in Veenendaal (Netherlands).
I thought she could never start coloring, talking or be potty trained. But she surprised me and started suddenly making scratches on papers by scribbling on them. She can also go back and forth with the pen and pencil. She is not yet potty trained. Every time time I think she will not be able to do something and then she always does better than what I expect. I would like for this foundation to help fund treatment options for this disease that could help her.
Lachlan is currently 8 years old, but with the independent skill level & understanding of a 12-18 month old. He He is nonverbal and has diagnosis’ of Autism, SHINE/DLG4 related synaptopathy, ESES epilepsy, ADHD, OCD & PICA. While life is sure challenging for him, he is the happiest, sweetest & most affectionate boy. He loves snuggles, kisses, hugs & tickles. He is also a massive sensory seeker! He loves busy/loud places, loves concerts/loud music in general & one of his favorite chaotic places are indoor trampoline parks with craziness of kids screaming/running around/flashing lights/loud music! He also loves swinging, jumping on trampolines, books, music, going out to eat/eating a wide range of foods, & his favorite place to be is the beach/ocean! His struggles are communication, mood swings, falling asleep/sleeping through the night, sitting still (he is constantly moving!), learning by imitation & fine/gross motor skills. Learning more about & understanding his genetic disorder, finding answers after years & years of searching & working with our new neurologist/epileptologist brings me hope. This foundation & gene therapy also brings me huge hope!!! Lachy was diagnosed in early 2020 & at the time I was told nothing was known and it was called “DLG4 Genetic Disorder”. In 3 years – the amount of knowledge and progress with this disorder gives me so much hope!!! So very happy with how informative, transparent & accessible this foundation is to parents like myself!!
Amelia’s determination brings me hope she always tries to have a positive look on things she can’t do she doesn’t let not walking stop her she will always find her on way to do things.
Amelia loves school and music and playing with her baby dolls.
Amelia doesn’t like when it’s time to brush her hair or teeth.
I hope that the foundation brings more awareness of this disease.
Braxton is very fun kid to be around. He is very verbal and loves asking questions. He loves all things farming and can sit in a tractor or combine with his dad for hours. He also enjoys role playing such as, doctor, farmer, firefighter, businessman, chef/waiter, band, police officer. He is extremely responsible and loves organizing. He is great with logistics of figuring out where everything should be/is during planting and harvest season on our farm. He can easily get overstimulated and deregulated. He is learning coping strategies for how to identify his emotions and how to regulate his body when this happens. Together we are learning his triggers and how to help him through the hard times. I am hopeful that so many researchers are on board with learning more about DLG4. Even if we don’t find a cure for our kids, there is hope for the future as we learn more about it.
Paislee is a happy energetic toddler. She is two. Paislee quit babbling and saying mama and dada after catching covid, a few months after her first birthday. She makes some humming noises now.
Paislee took her first steps the day she turned 18 months.
She is very wobbly and has major balance issues, but she walks. She actually loves to walk, and bounces right back up after every fall.
She’s resilient, she is tough, she is fierce
She doesn’t let her hypotonia or ataxia slow her down. Paislee loves music and food!!
Moana, Coco, Frozen, and Encanto are her favorites. She giggles at the inappropriate times, and paces with excitement. She wants to sing along with them, and hopefully one day she will.
Kynlee is a ray of sunshine! She is just the sweetest She can be full of energy which can be exhausting but we try to work on that with finding her things to do. Her Favorite foods are Mac and cheese, popcorn, watermelon, pizza and ice cream! She Loves our dog Ruger and anything Paw Patrol. Her favorite activities include riding her scooter, swimming at the pool or lake! Going on walks. She struggles with motor skills, balance and speech
Xinyan is 7 years old, she is shy and she likes different kinds of food, to find this foundation it gives me hope, we were in the fog before, now we can see the sunshine, She loves Chinese food, play with her mum and Disneyland. She struggles with Anxiety and Seizures. Thank you for working hard on a treatment, this family wishes nothing but the best all the way from China.
Elisa-Rose is a 5 years old girl who really really love puzzles. Since she was a baby she was different. When she was 4 years I thought she was Autistic, but after genetic testing, we found out she does not have the gene DLG4 at all. She has Autism, Epilepsy, intellectual disability, 59 IQ tested and allergic to milk
Our life with her is very busy, she has multiple meetings with Dr’s and specialists. She goes to school twice a week and does a good job with sociability, but learning is difficult. We are waiting for a place in the IME French school for different kids. She can run, jump and fall, she has a good memory and love to Sing. She can speak a little. She’s brilliant, sunny girl, loves playing by herself and her little Brother Aaron. She’s very protective and calm with her brother. The most important thing for her are PUZZLES, she can easily do 200 little piece puzzles in a few hours. She has multiples fear, that’s give her big crisis, she can yell really hard, stops breathing and it’s hard to calm her down during her anxiety attacks. Her principal fears are vacuums, motors noises, some toys if the moving like cars, she can instantly puke if she touches a thing she doesn’t like, like a bench in the Park or green paint. It is not easy going to the store with her.
Elisa-Rose has a very good sense of humor, she loves making silly jokes, she has a great laugh and when she smiles it can touch your soul.
Patient J is 26 and now lives in an apartment with a great friend and a support schedule. She works (with some support and very kind people), volunteers, votes, takes the train and has a full social life with wonderful friends. She uses visuals for scheduling and reminders as her memory is poor. She needs a lot of sleep. Learning was harder and slower when she was younger and had seizures. She stopped needing seizure meds at age 16. She had some great therapists and teachers in school and has a fabulous support team and community now. It always takes a village! She is adored and we are extremely proud. My hope is that research will provide better therapeutics for all kids and adults struggling with seizures, and neurological regression caused by rare genetic neurodevelopmental disorders like DLG4.