Laura Palmer and the Shine Syndrome Foundation




SHINE Syndrome, also known as DLG4 Synaptopathy, is a very rare neurological disorder that affects a small number of individuals around the world. The symptoms of this condition include developmental delays, autism, ADHD, disordered sleep, hypotonia, epilepsy, plus bone and/or brain abnormalities. Due to its rarity, SHINE Syndrome is often undiagnosed or misunderstood, leaving families searching for answers and support.

Laura Palmer's youngest son, Nolan, was diagnosed with SHINE Syndrome in 2017. She is the founder and president of the SHINE Syndrome Foundation, which offers support to families and searches for opportunities to fund research.

Nolan's rare genetic variant was discovered at Harvard, although he is a patient at Cincinnati Children's Hospital. The sleep lab at Cincinnati is currently creating a mouse model of her son's variant, thanks to the expertise of Dr. John Hogenesch. After years of genetic panels, they were finally accepted into a study at Harvard where he received whole genome sequencing. That is also how they found out about Nolan's Non-24 Sleep-Wake Disorder.

Aside from being a nonprofit founder, Laura is also a teacher. It's definitely challenging to balance work and the parenting of her two older children while ensuring Nolan is safe and supervised. And it's difficult to get a good night's sleep if you're expecting it will be disrupted.

Her family has found a way to make disrupted sleep work for them. If one of her teens wants to stay out later at night, Laura will go to bed when Nolan goes to bed. This way, if he wakes up in the middle of the night, she's had a few hours of consecutive sleep. Meanwhile, her husband stays up to drive the other kids and gets to sleep longer in the morning.

However, this arrangement does affect her social life and she prefers not to stay out past 8 pm. A late night out could result in only 2 hours of sleep, leaving her feeling exhausted the next day.

They have experimented with various sleep medications for Nolan, including melatonin. The most effective combination has been Clonidine and Silenor at bedtime. Although Clonidine initially helped with falling asleep, it resulted in only a few hours of sleep. The addition of Silenor has extended his sleep duration. They are very careful to stick to a strict routine, including dosage time, to ensure he gets the sleep he needs. Additionally, the introduction of XCOPRI, a seizure medication with a side effect of tiredness, has further improved his sleep quality.


Now Nolan has a pretty consistent sleep schedule, thanks to the guidance of a skilled sleep specialist and some adjustments to his medication. Before this, he would wander for hours late at night in order to fall asleep, which was unsafe due to his lack of awareness of danger. Right now is the best Nolan's ever slept.


If you want to learn more about the SHINE Syndrome Foundation, please take a look at their website! Thank you to Laura for sharing her family's experience with Non-24. And much gratitude to Dr. Hogenesch for all he has done with research in genetics and circadian timing.


SHINE stands for Sleep Disturbances, Hypotonia, Intellectual Disabilities, Neurological Disorders, and Epilepsy.


https://shinesyndrome.org



Naomi Mittet is a board member of the Circadian Sleep Disorders Network. 

For more information about Non-24, check out the Q&A page from Circadian Sleep Disorders Network: 

https://www.circadiansleepdisorders.org/docs/N24-QandA.php



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