Myron 

Myron had his first febrile seizure at 12 months and continued to have febrile  seizures with every illness, through early childhood. At 15 months Myron began early intervention for global developmental delay. He was diagnosed with a severe language disorder before he turned 2.  At age 2 Myron had his first seizure without a fever, and an abnormal EEG, and was officially diagnosed with Epilepsy. Around the same time, Myron developed a tremor that mostly affected his hands and an ataxic gait. The tremor was so alarming to me at the time. I had never seen a child shake like that before. He also received an autism diagnosis just before his third birthday.

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We have always known there was something unique and different about him. During the difficult early years, Myron had many doctor appointments and hospital stays. I'll never forget the day the attending neurologist came in and knelt down in front of my tiny 2 year old Myron to do an exam just after a very thorough exam from the other doctor. He was so kind and gentle. As he finished, he looked over at me and said, “Dr. C is right to say he is worried about Myron.” With the most calm and compassionate explanation, he told me that Myron’s symptoms were like stars in a constellation, each one a piece of the larger puzzle. These pieces, when put together, would all have the same cause. Thus, we started our journey to find a diagnosis that would explain his developmental delays, tremors, seizures, and mild ataxia. After many tests, the whole exome sequencing came back with NUS1 genetic disorder.

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Over the next couple years, his seizures were difficult to control. Thankfully, after age 5, Myron has had fewer breakthrough seizures. His symptoms have become more predictable and stable. In short, we have found a groove that works for our family. Myron is currently 9. His major difficulties at the moment revolve around his cognitive and speech delay. He loves cars, trains and monster trucks. He plays well with his peers and is friendly and kind. 

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Despite the difficulties he faces, to be near Myron is to experience pure joy and love.  Myron is the sweetest soul you will ever meet. His innocence and purity shines through everything he says and does. Although, he struggles with language, learning, motor skills and seizures, he perseveres daily with a positive attitude.

Meet 

Oliver 

Oliver is lovingly known as Otter, Ollie or Otter pop! We are a creative family of making, science, cooking and music. Finding out our Otter needed special ed services was easy. We did each step, OT and speech home visits.  At 2 1/2, Otter had febrile seizures and a very irregular EEG, which lead to his epilepsy diagnosis for incredibly active myclonic or absent seizures. Next was 5 years of  IEP's trying to figure out how Otter's learning was so non-linear. At age 7 we thought he was seizure free. We took him off of his daily medication, and at the end of his tapering off, he has a 5 min Tonic Clonic seizure. We knew something was bigger that we suspected. At age 8 1/2  after  2 1/2 years of working with a geneticist and numerous panels of gene testing, his whole exome sequencing came back with two genetic abnormalities.

Otter is empathetic, hardworking, a great teammate, an amazing dancer and has a fabulous sense of style and slap stick giggle that could shine through any room. Otter's passion for anatomy and science makes him the most incredible patient ever.  In 4th grade, we presented NUS1 to his class so that everyone would know that his tremors, tiredness, learning challenges are all apart of NUS1 and that his cells are being grown for research with zebra fish!!! We are finding a way through it all with education, empowerment, community and a radical approach to creative living, supporting artistic passions and adventure. 

Meet

Jackson

My little boy Jackson has been diagnosed with NUS1 gene mutationLiving with this gene mutation he suffers from epilepsy, tremors which are mostly in his head,upper shoulders, arms and in his hands but sometimes he can get tremors in his whole body. He’s also been diagnosed with autism and developmental delays. Jackson is very jerky and does display myoclonus movements.

Jackson is six years old. He received his epilepsy diagnosis at around the age of three. He is currently taking epilepsy medications in the morning and at night. Jackson’s epilepsy medications are sodium valproate and briviact. Jackson is also prescribed buccolam which we have to administer if Jackson’s seizures are lasting longer than 5 minutes. Unfortunately Jackson still continues to have seizures. We noticed Jackson’s tremor and developmental delays at just a couple of months old. Jackson wasn’t reaching his milestones. Jackson received his Autism diagnosis at the age of five.

Despite all of his daily struggles living with NUS1 Jackson is a very happy little boy who doesn’t let NUS1 define or defeat him! He is such a strong little guy! We are so incredibly proud of the little boy he’s become and we love him so much!

Meet

Chloe

Chloe was a competition cheerleader and loves to dance. At age 3 we noticed hand and eye tremors.  We got her into physical & occupational therapy which started to help the tremor and teach her ways to compensate for the tremor.  We also learned that the tumbling classes (Cheer & Gymnastics) really help with strengthening her core and reduced the tremors. We have also noticed when her tremors are strong they get better with added protein to her diet.

Chloe had her 1st seizure when she was three.  It wasn’t until 7 that they got the true epilepsy diagnosis.  She has had many forms of seizures (Focal, Tonic-Clonic, Absence) and is still currently on medication.  Her genetic testing came back in November 2018 with the NUS1 finding at that time they were told there were only 3 others with NUS1.  The genetic company/team we are working with have been great! Chloe’s DNA is being used in zebrafish to run studies. As of late she has a  new seizure diagnoses of PENS.  This is a form of a seizure, it’s non epileptic but looks very much like a tonic clonic.  The PENS can be brought on by stress and anxiety. 

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Chloe is resilient and doesn’t let her symptoms hold her back.  She has a passion for dancing, music, strength training classes and most of all being around her friends and family.  She is kind, funny, and empathetic.  Chloe also has a great tutor that helps her keep growing outside of school with reading comprehension and writing. Chloe has been working hard and graduated from High School and launched her first Bonfire Team Soaring Bright Fundraiser in 2024!!!!