DLG4-related Synaptopathy | DLG4 SHINE Foundation

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Supporting Families While Advancing Research to Find Treatment for DLG4 SHINE

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DLG4 Synaptopathy, or DLG4 SHINE is an ultra-rare disease caused by a genetic mutation on the 17th Chromosome. Patients living with DLG4 SHINE typically endure trouble with Sleep Disturbances, Hypotonia, Intellectual Disabilities, Neurological Disorders, and Epilepsy, thus the name “SHINE”.

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3

Research Studies

$675,000

Fundraised In Three Years

190

Known Individuals Diagnosed

Our SHINEing Stars

Although they navigate numerous struggles in their daily lives, our SHINEing stars are generally all smiles, love to celebrate even the smallest victories, and spread joy wherever they go.

Eddie loves to listen to music and loves to sing. His favorite food is spaghetti and he is not a picky eater. His favorite character is Mickey Mouse and he loves going to amusement parks. He enjoys big rides. He enjoys going to school and going out to the community with his classmates.

Tomas' favorite food is ravioli and any type of noodles. He loves to play ball, run and jump around. His best friend is his brother and he loves to watch the show Topa. Tomas struggles with regulating his emotions and expressing himself. When works himself up when he cannot express himself correctly. He has good and bad days and always has a smile on his face.

In Spanish:
La comida favorita de Tomas son los raviolis y cualquier tipo de fideos. Le encanta jugar a la pelota, correr y saltar. Su mejor amigo es su hermano y le encanta ver el programa Topa. A Tomás le cuesta regular sus emociones y expresarse. Cuando no puede expresarse correctamente, se pone nervioso. Tiene días buenos y malos y siempre sonríe.

Angelo lives in Italy with his family and has severe ADHD and behavior issues. He loves to dance and loves music. His best friend is his mom and he has trouble finding new interests because he has a hard time focusing after 5 minutes. His family would love to get some support and access to anxiety and ADHD meds as access is very limited in Italy.

Jace loves playing with friends and truly never gets tired of playing outside. He loves Skyline Chili and has become a regular to the point that they make his food before he even gets out of the car when we pull in. He enjoys playing soccer and basketball in the All Abilities league locally and also enjoys horseback riding. He also loves timers, alarm clocks, and any device that has numbers in it, including weather forecasts.

He dislikes loud noises, car washes, and being excluded, even if it’s from an activity his friends are doing that he isn’t quite able to do.

We love our boy so much and he brings so much joy to those around him!

Susie loves to play little nursery rhyme games like pat a cake and peek a boo. She loves her brothers and follows them everywhere. She loves to play with babies and carries her baby all over the house. She loves to watch Minnie Mouse and Bluely currently. The biggest challenges we have with Susie is meltdowns. She will have meltdowns often. Hardest time for me is when she is eating and makes a big mess with her food. I haven't figured out a reason either, it is totally random but she will get very mad and throw her food everywhere. Then she will eventually calm down and eat.

Here’s a bit about Cédric, or as we call him The Dude, and his journey (in Ontario, Canada).

Very early on, we noticed that Cédric was not reaching milestones at the same pace as his peers. By 18 months old, we were able to consult a developmental therapist, a physiotherapist and a speech and language pathologist. They confirmed delays in all areas and we started therapies and a quest for a diagnosis.

We first got, with difficulty, a diagnosis of developmental delay which allowed him to start school with the help of an Educational Assistant. We had to keep pushing and eventually got an autism diagnosis which opened doors to funds and services. This was our reality and our sense of Cédric’s identity for years, but we always felt he was still a special case within that group.

After he started having epileptic partial seizures at 9 years old, genetic testing was done and we received a DLG4 frameshift mutation diagnosis in November 2018, just before he turned 11. And this has felt like coming home, like finding him and his identity, as it medically explains all his challenges. It also allowed us to find our family in the small but mighty community of other families affected by DLG4 mutations.

In Cédric’s case, the mutation causes a severe intellectual disability, neurodiversity (autism) and epilepsy. He is very hyperactive, anxious, non verbal, not toilet trained, hypermobile and low tone, and had gastro- intestinal issues. And his epilepsy has been a difficult new challenge as his seizures are hard to control and are drop seizures (which paired with no sense of danger, bad motor control and hyperactvity is a bad combo).

With all that said, Cédric is a generally happy, pretty easy going and very affectionate guy who gives the best hugs and kisses. He loves anything sensory stimulating (car rides, swings, trampolines, roller coasters, music), especially water (swimming, showers, baths). Our happy place is definitely Disney World. And he is literally diagnosed in black and white as charming and handsome (by the psychiatrist on his autism diagnosis) which he uses to get away with quite a lot!

We were so excited to welcome our second child into our family. This meant our daughter was going to be a big sister and that she is. She loves her brother with such a special bond.

Izac was born May 2012. Our healthy baby boy officially arrived.
My pregnancy and his birth were fairly straight forward. Our boy was one hungry little man that seemed like we could never keep up between nursing him and bottle feeding. For 9-18 months of age there was a noticeable delay cognitively, fine/gross motor and his language.
We alway said that he was too busy eating to sleep. He doesn’t have a great track record for sleeping or crying. This was our hint, it really seemed odd to others that we were alarmed by those two things. Parents know best!

The door opened for us when we were referred to our pediatrician when Izac was 9 months old. This was the start of the medical appointments that lead to dead ends for a few years. Izac was coming into his second year birthday, it was decided that he needed to have an Autism assessment. The struggle for severe sleep disturbance to delayed motor skills, speech and possible ADHD, we needed more support for Izac. He was approved for a few supports, but it wasn’t enough.

Age 4 Izac’s assessment came back with a moderate Intellectual disability. This was not on our radar, it was a starting point. It was an opening to possibly more therapy, social play, family support. For the next year we tried to utilize everything we could before he went to kindergarten. It was always assessment after assessment with so much confusion on what would best suit Izac.

In between all the appointments with specialists and therapies we did lots of camping and quading. We decided Izac was going to learn to drive a quad. Izac was a passenger on our quad for years before he got his. Repetition, repetition, repetition is what brings Izac to driving his own quad to this day. He started when he was 4 years old, we had a pull cord so we could stop it at any time. My husband Mark, Izac’s amazing dad, his soul sister and I all took turns on the back of his quad guiding him through his first few years of learning to drive his quad.
That was a wild ride. At age 7, on my birthday, he showed us he could do it all on his own.
This is our milestone – we couldn’t be more proud.

Back to kindergarten 2017, he started school with a category which gave him some funding. He struggled with leaving me, he struggled with any academics, he was very observant when it came to what and how he needed to fit in with his peers. Izac has the most beautiful blue eyes that stare right through you and his smile talks a million words, and his education assistant and teachers alway loved having him around. The struggle was what and how does he learn. What exactly does an intellectual disability really mean to a kindergartener that had low fine/gross motor along with being years behind his actual age. It meant that we had to figure it out. We had some new additions on the team, his school team.

Let’s fast forward to 2018- The topic of conversation was “does Izac have absent Seizures”?
This was very interesting to us; we had the first 24 hour sleep seizure test. At this point it was only a suspicious thought. The difficult part was Izac didn’t sleep much to start with and staying asleep wasn’t much of an option. It came back that it was not anything to worry about. We didn’t close that door for good it just wasn’t the time.

In between all the avenues looking for answers we went back and ended up with a Autism diagnosis too. Finally we had something to help direct us. It just didn’t feel complete. I alway knew we weren’t at the end. Izac had more to share. I just couldn’t pinpoint it.

Two years later 2020, we decided that it needed to be looked at from a neurologist. We did another 24 hour sleep seizure test. The main concern this time was Izac would sleepwalk at night crying that he had to throw up or go to the bathroom. In the morning he didn’t remember any of it and he was never sick that day, just exhausted in the morning. Yes- there is such thing has seizures starting in your stomach. Moving on Izac’s 24 hr seizures test came back. He has two different Epilepsy’s : Rolandic Epilepsy, Focal Epilepsy.

A few of Izac’s favourite activities is swimming every day whether it is in the pool at our local rec center or in our hot tub or in the bathtub. He loves to be in water. Anything that has a motor he is driving it or wants to drive it. He thrives to be outside playing in the sandbox, jumping on the trampoline, swinging in the hammock, ice fishing, snowshoeing, skiing or shoveling the snow off the driveway. Izac has a kind gentle heart that cares more about everything and everyone in this world, more than he could every express.

We found out that Izac had the DLG4 mutation a year later. The connection to other families like ours is irreplaceable and enlightening to say the least. Thank you for never giving up and giving us hope for the future.

Noah is the oldest of the three little men in our family. For the first two years of life he seemed to meet developmental milestones, had an amazing vocabulary and was great at most everything. However, shortly after he turned three it was becoming apparent that certain things were not as they should be. Noah was evaluated and found to be significantly globally delayed though he had many splinter skills at that time which made him look quite typical in many ways. He started physical therapy, occupational therapy, speech language therapy, vision therapy and special education services. We also started our search for answers.

Just before Noah’s fifth birthday, he had his first EEG which revealed that he has an epileptic encephalopathy and that his brain was randomly discharging every 2-3 seconds during the day and even more at night. He was also having focal seizures which have since progressed from absence seizures only, to a combination of absence (staring episodes), atonic (drop seizures) gelastic (laughing) seizures and fear auras. Over the next two years Noah trialed several anti-epileptic drugs to mediate the abnormal brain activity with limited success. The medications have gotten control of some of his focal seizures and much of his brain’s daytime spiking. Unfortunately, the removal of the daytime spikes and focal seizures did not result in significantly improved cognitive functioning.

When Noah was seven, he suffered a huge regression of his cognitive abilities, language, motor control and behavior. At that time, he was diagnosed with Electrical Status Epilepticus in Slow wave sleep (ESES), a rare form of epilepsy characterized by neurocognitive regression, epilepsy and near continuous spiking during sleep. Since that time, he has been in and out of the hospital for testing and treatments with no real success. While searching for answers, Noah underwent a full exome sequencing which revealed Noah has the DLG4 mutation. The discovery led us to the other SHINE families. When we heard the traits associated with SHINE syndrome, we were surprised at how perfectly they describe Noah and the complications he faces in life.

From day to day Noah’s skills can be better or worse. He is described by teachers as consistently inconsistent. His language and skills come and go depending on his brain activity. Currently, Noah has severe proprioception and introception issues making it a struggle to walk properly, sit down, ascend/descend stairs, dress himself or independently use the bathroom. He often gets frustrated because his body does not do what he is telling it to. He also gets nervous when things are different or he perceives that they might be difficult for him.

All that considered, he’s generally a happy kid. He loves cuddling, watching movies, hanging out with his brothers, music, jumping in his trampoline and listening to books. Despite the frustrations of his daily life Noah’s fun-loving personality shines through along with a ridiculous sense of humor and a beaming smile.

Emily is a loving verbal 10 year old. I knew within a few weeks that something was off with our precious little one. She seemed to have sensory issues right away. She couldn’t sit up on her own and was delayed in most areas. Early on we thought she was color blind because she could not learn her colors. She eventually learned her colors but was always behind her peers. She would learn something and then seem to forget it. She started PT and OT at age 2 for poor gross and fine motor skills. She couldn’t jump, but eventually learned to. She couldn’t dress herself, but also learned how. Still working on bathing independently. She was diagnosed with a mild intellectual disability and ADHD. She had an MRI, which showed nothing and Neurology and physical medicine said they didn’t need to see her back and referred us to behavioral. She has always slept good unlike many others in the community.

We opted for round two of genetic testing and the door opened. Everything suddenly made sense. She was diagnosed in 2019 with Shine Syndrome. Specifically, de nova dlg4 mutation, ESES, ID, dyspraxia, scoliosis, and hypotonia. The scoliosis would not have been picked up without my geneticist getting her checked due to what he read on the one available DLG4 paper. None of the previous doctors detected it. This process has taught be to be an advocate and push the system. The Facebook group made such an impact on our family. We requested she be tested for ESES and found her spikes were at 95%. With treatment, she is now at 12%. After starting the seizure medicine she learned to read and her reading scores continue to increase at an astounding rate. She is in general education and is pulled out for PT, OT, speech, and general intervention. Her math skills are at the 1st grade level and she struggles enormously with writing and drawing. She can type with one finger and is learning to spell better.

Emily does well socially and is blessed with kind children that help and treat her respectfully for the most part. SHINE impacts the whole family. Her older brother struggles with jealousy and sometimes tires of being helpful and understanding. She is unable to ride a bike but loves to swing and be outside. Her favorite things include dancing, watching movies, and playing with Barbies. After a recent trip to Disney World, I asked what her favorite part of the trip was. Her response? “Spending time with you guys.”. She is a ray of sunshine and only wants acceptance and inclusion. She struggles with her temper and throws screaming fits often. Mostly out of frustration when she can not find something or use something like a remote control properly. She has always hated using the restroom and had accidents through 2nd grade. She knows she is different but has confidence. She is able to calm herself out of frustration by taking deep breaths. At this point, I don’t think Emily will ever drive a car. Besides that, I think only time will tell what the future holds for her. She is relentlessly fierce. Even on her worst days she does not give up. She wipes the tears away and keeps trying. To date, she has not had a visible or reported seizure. She does mix things up often. Her concept of time has improved but still off. Meaning, she will refer to yesterday , when it was something that happened last week /month and vice versa. She chokes sometimes but has no dietary restrictions. She needs reminded to take smaller bites and slow down. She left her group during summer camp and jumped into the deep end of a pool. She can not swim and luckily the lifeguard got her. She typically doesn’t attempt to wonder off but she did also leave the house once without our knowledge. She knew this was unacceptable and unsafe. I am sharing this because both of the last incidents surprised me. I would never have thought she would do either but they happened. Both at age 9. She has a loving and supportive family. Most importantly she is generally a very happy girl. She loves her new puppy and was a bit rough with him at first but she has adapted just fine. She is extremely affectionate and caring and SHINES like the rest of this beautiful community. Mom has anxiety from navigating this special needs world. There has been lots of worrying whether I am pushing too hard or not hard enough, limiting activities too much or not enough, dreading seizures, prepping for an unknown future, etc. We look forward to continued support from the SHINE community. Blessings to all of you. Together we will make a difference.

Xinyan is 7 years old, she is shy and she likes different kinds of food. She loves Chinese food, play with her mum and Disneyland. She struggles with Anxiety and Seizures. We were so grateful to find this foundation as it gives me hope. We were in a fog before but now we can see some sunshine. Thank you for working hard to find some treatment, this family wishes nothing but the best all the way from China.

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.

Aleksandras is crazy about football (soccer). Totally obsessed. Both playing himself and watching on Tv or Internet. He will also start training for his 3rd year of Beach Volleyball soon. He loves all food. He has no friends except his older sister who is 13 years old. He loves to listen to songs and his own Spotify account to play his favorite music. His biggest struggle is his self-confidence. He cannot write and read. He also has a hard time making friends and socialize with others.

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

Bentley is generally a very happy kid. We are very scheduled with our days. If we have something out of the norm for our days, we really have to prepare him ahead of time. He enjoys playing with his kitchen and his baby dolls with his 3 sisters. He doesn’t like loud noises, but himself is very loud. The DLG4 SHINE community gives me hope with stories of other kids’ accomplishments. I hope for the foundation to find more answers to help our kids and our families.