The Willem Family’s Medical Challenges
For most of my life, I knew something was wrong with my body. I just never had a name for it. When I was around 18, I had what I…
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The Willem Family’s Medical Challenges
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Study: Improved Well Being for Mothers of Disabled Children Who Forgive Gratuitous Criticism
The CDC reports that approximately 17% of parents in the U.S. have a disabled child. These parents not only cope with the stress that accompanies their attempts to provide stability,…
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Study: Improved Well Being for Mothers of Disabled Children Who Forgive Gratuitous Criticism
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FRAXA Research Foundation Awards $100K Grant to Study FXS
When it comes to rare diseases, advancing research is crucial to developing a better understanding of the disease and how it can be treated. However, it can sometimes be difficult…
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FRAXA Research Foundation Awards $100K Grant to Study FXS
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A Mother’s Love and the Dogged Determination to Advance ZMYM2-Related Disorder Research: Sharon and Katie’s Story (Pt. 3)
Read Parts 1 and 2 of Katie's story, where we discuss the diagnostic journey, precocious puberty, and Katie's ZMYM2-related disorder diagnosis. Potential ZMYM2 Symptoms and the Need for Research The geneticist mentioned that symptoms…
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A Mother’s Love and the Dogged Determination to Advance ZMYM2-Related Disorder Research: Sharon and Katie’s Story (Pt. 3)
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PTEN Hamartoma Tumor Syndrome Has Been Assigned Its Own Diagnostic Code
A code for an autism-linked syndrome has now been established and entered into the U.S. diagnostic manual that catalogs health conditions. According to a recent report in Market Watch,…
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PTEN Hamartoma Tumor Syndrome Has Been Assigned Its Own Diagnostic Code
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$4M Put Towards Research for ADNP Syndrome Therapies
Currently, no approved therapies exist for ADNP syndrome, a rare genetic neurodevelopmental disorder. But a group of researchers from the UC Davis MIND Institute are working to change that. According…
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$4M Put Towards Research for ADNP Syndrome Therapies
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Boy Diagnosed With Sanfilippo Syndrome After an Autism Misdiagnosis
Connor Dobyn's parents recognized that their son was missing important developmental delays early on. They brought their concern to the doctor, where Connor was diagnosed with autism. For the next…
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Boy Diagnosed With Sanfilippo Syndrome After an Autism Misdiagnosis
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A Mother Shares the Daily Challenges She Faces Caring for Her Special Needs Son
A person’s true feelings are often difficult to express during an interview. When asked a question by the interviewer there is no time to rehearse but only grasp at the…
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A Mother Shares the Daily Challenges She Faces Caring for Her Special Needs Son
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New Study: Mitochondria Defects in Brain Cells Might Cause Autism Spectrum Disorder
Hundreds of mutations have been connected to autism spectrum disorder (ASD), and a new study finds further evidence that suggests a possible cause of this spectrum of conditions Neuroscience News…
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New Study: Mitochondria Defects in Brain Cells Might Cause Autism Spectrum Disorder
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Using AI to Further ADNP Syndrome Research
It all began with an email in 2019. Matt Might, director of the Hugh Kaul Precision Medicine Institute, shot his thoughts over to neurosurgery resident Matt Davis, whose 3-year-old son…
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Using AI to Further ADNP Syndrome Research
Kids Who Need Special Education are Disproportionately Affected by School Closings
Of course, parents are not used to taking on the role of educator. Many are still working full time jobs at home. That, in addition to the normal household chores,…
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Kids Who Need Special Education are Disproportionately Affected by School Closings
New Research Identifies One of the Causes of Autism
Autism spectrum disorder (ASD) affects one out of fifty-nine eight-year-olds in the U.S. A recent article in Medical News Today outlines a study conducted by neuroscientists from the Korea Brain…
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New Research Identifies One of the Causes of Autism
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Accommodating Sensory Issues in Your Home
According to a story from The Columbus Dispatch, a variety of disorders, such as autism, can cause issues with sensory processing. What this means is that people on the autism…
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Accommodating Sensory Issues in Your Home
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UCLA Offers Virtual Care for Conditions like Tuberous Sclerosis
People affected by rare diseases often find it difficult to find adequate treatment for their conditions. Due to the rarity of their diseases, there are often no doctors who specialize…
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UCLA Offers Virtual Care for Conditions like Tuberous Sclerosis
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ICYMI: Autism and Tourette’s Syndrome May Have a Genetic Link
By Rachel Whetstone from In The Cloud Copy New research from Lancaster University shows a genetic change that is common in cases of both autism and Tourette’s syndrome. Early research…
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ICYMI: Autism and Tourette’s Syndrome May Have a Genetic Link
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22q11.2 Deletion Syndrome Often Misdiagnosed as Autism
According to a recent article in PsychCentral, a rare genetic disorder called 22q11.2 deletion syndrome (22q) is very often misdiagnosed. A study shows that social impairment is the most…
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22q11.2 Deletion Syndrome Often Misdiagnosed as Autism
Tuberous Sclerosis Research Gives Insight Into a Cause of Autism
As originally reported in MSU Today; in new experiments on mice, researchers looked into how the TS gene is related to autism. Tuberous sclerosis is a rare disorder known for…
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Tuberous Sclerosis Research Gives Insight Into a Cause of Autism
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Butler Basketball Coach Signs 7-Year-Old With Rare Disease
January 5th was not only a great day for the Butler basketball community, it was a dream come true for the bulldog fan Seth Dennison, reported Fox 59. The 7-year-old…
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Butler Basketball Coach Signs 7-Year-Old With Rare Disease
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How This Pup Changed the Life of a Little Girl with Dravet Syndrome
Elizabeth couldn’t speak. She wasn’t expected to ever utter a word. She couldn’t read. She struggled to make trips outside of the house. Certain smells and loud sounds bothered her.…
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How This Pup Changed the Life of a Little Girl with Dravet Syndrome
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Tuberous Sclerosis and Autism Event April 1 at BadWolf Brewing
The On Tap for TS event is Saturday April 1, 2017 from 4 - 8 pm to benefit tuberous sclerosis complex (TSC) and autism research. It will be at BadWolf…
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Tuberous Sclerosis and Autism Event April 1 at BadWolf Brewing
