Neurobehavioral Signatures in Overgrowth Intellectual Disability Syndromes: Dissecting Genotype-Phenotype Relationships in the PI3K-AKT-MTOR Pathway – PubMed
Overgrowth intellectual disability syndromes (OGIDs) caused by mutations in the PI3K-AKT-MTOR pathway present significant neurobehavioral challenges. While PTEN Hamartoma Tumor Syndrome (PHTS) has been behaviorally characterized, Smith-Kingsmore Syndrome (SKS) has...
Syndrome of the Month: Syndrome of the Month: An Update on Smith-Kingsmore Syndrome: Characterization of Developmental Milestones and a Review of the Literature – PubMed
Smith-Kingsmore syndrome (SKS) is a rare autosomal dominant condition characterized by neurodevelopmental differences, macrocephaly/megalencephaly, describable facial features, sleep-wake abnormalities, hyperphagia, and overgrowth.
GeneReview: Smith-Kingsmore Syndrome – PubMed
Smith-Kingsmore syndrome (SKS) is characterized by varying degrees of overgrowth, developmental delay / intellectual disability, neurodevelopmental issues (autistic features, ADHD), and congenital anomalies. Developmental delay typically involves all aspects of...
Natural History Study
UPDATE: Study is closed to new participants. Original update: The UCLA Department of Human Genetics is now completing the data gathering phase of a genetic study on individuals with overgrowth conditions,...
Inaugural Family Conference!
Researchers and clinicians met with our families at Cincinnati Children’s Hospital Medical Center to study the condition. For more information on this conference and for links to the presentations, check...
CCHMC Medical History Study
Cincinnati Children’s Hospital Medical Center (CCHMC) is working on a Medical History Study. If you are interested in participating, please email Lindsey Aschbacher-Smith at CCHMC for more information. Email CCHMC
Awareness Day
August 15, 2020, marked our first-ever Smith-Kingsmore Syndrome Awareness Day. Friends and families joined in a day to remember our blessings and bring attention to our struggles. We were reminded...
Funding for Research
In just 5 weeks, together we raised $59,000, enough to fund a postdoctoral researcher for one year. Thank you!! Read more about the groundbreaking SKS research we are supporting. ...
SCRI Brain Research
Dr. Mirzaa at Seattle Children’s Research Institute (SCRI) is currently enrolling individuals with SKS who have had an MRI. The goal of this research is to understand the causes, mechanisms and...
CoRDS Cast: Episode 28
We were thrilled to participate on this month’s episode of “CoRDS Cast,” a podcast highlighting a different rare condition on each episode. Tune in to hear Dr. Carlos Prada (Cincinnati...
Blue Signal Gives Back
Blue Signal gave back (again)! Ryan Walsh won a whopping $3,986.50 to donate to the Smith-Kingsmore Syndrome Foundation on his behalf – all thanks to the combined efforts of the Blue...
New SKS Research Published!
We are so incredibly thankful for researchers who partner with the Smith-Kingsmore Syndrome Foundation and SKS families around the world to advance the understanding of SKS and get us closer...
With One Phone Call, Answers to a Genetic Mystery
Check out the University of Florida Foundation article by Liesl O’Dell on SKS and UF’s research team! Read a story
Second Family Conference
October 23 and 24, 2021: We met virtually for the 2nd Smith-Kingsmore Syndrome Family Conference. Cincinnati Children’s Hospital Medical Center (CCHMC) again hosted this event together with the Smith-Kingsmore Syndrome...
SKSF Part of Rare As One Network
It is official! The SKS Foundation is now part of the Chan Zuckerberg Initiative #RareAsOne Network – a group of 50 patient-led organizations that are strengthening rare disease communities, improving...
February 2022 Newsletter
Rare Disease Day is Feb 28, 2022! In the newsletter we provide updates on the latest research and how to get involved in the current studies. We also share details...
Rare Disease Day News
SKS was in the news for Rare Disease Day! SKSF Board member Matt Walsh and his family, and SKSF President Kristen Groseclose spoke with a reporter in Arizona. They shared...
$2.4M NIH Grant for SKS Research
We are beyond excited to announce University of Florida, Dr. Andrew Liu and research team have been awarded a $2.4 million NIH grant for SKS research! Our community and supporters...
Caught between two worlds: what is “normal”
5 years ago Jack stopped breathing. He had a grand mal seizure in his bedroom, just after dinner. My other child and I had heard a loud thud and then…silence....
The Secret Freedom Of A Special Needs Mom
Years ago, I was a people-pleasing rock star. The minute you required something of me, I delivered. I fed on your approval and validation. Whether it was getting good grades,...
The Elf On The Shelf Is The Devil’s Plaything
This thought may be unpopular, but I’m gonna challenge that sacred cow, the third rail of holiday festivities: The Elf on the Shelf. To be clear: I HATE The Elf on...
Confessions of a (not so) Tiger Mother
Ever read “Battle Hymn of the Tiger Mother”? This controversial memoir by Amy Chua details her strict parenting philosophy. Her goal? Unambiguous success for her daughters. No other outcome imaginable. Anything...
Love is a verb
Clutching my soggy tissues in a death grip, I couldn’t stop bawling. I was perched on the edge of a soft chair in the dimmed sanctuary of Dr. G’s office....
Live your life forward by working backwards
I LOVE documentaries. Especially “people overcoming adversity in nature”-type ones. From ultra-marathons through deserts to mountain climbing without safety harnesses, you name it, I’ve watched it.
Holidazed and Confused
“Only 5 more days of school until winter break!” The old lady crossing guard with the ruddy weathered face and jaunty Santa hat chirped this greeting to me years ago,...
Cut me a piece of that humble pie…
A few weeks ago, I braved the UPS store to ship back a duplicate Christmas gift for my husband Mike. I had my developmentally disabled teenager Jack with me–it was...
Savor the bite-sized victories and joys
“Tell them no. They should get the information themselves.” So said Dr. G, my long-ago therapist. I’d been venting about my latest drama in the world of special needs parenting.
To the parent trapped in a horrible day
I see you, my fellow caregiver. You’re trying and failing to hold it together because today is bad. Like really bad. Like so bad you don’t know how to get...
Sweating the small stuff
Have you ever considered the grueling job of a package delivering UPS worker? I hadn’t. Not until I read about UPS Bootcamp, an intense training that newly hired delivery workers complete before they...
The insidious pressure of “fun”
Confession: Some days I exhaust myself worrying about fun. Not for Jack’s sibling, who’s typically developing. Boredom sparks growth and creativity, after all. I’m not a concierge. My role as...
Expectations versus Reality
When Mike and I came to get him, he was snoring peacefully in the sensory room adjacent to the dance floor, his aide a watchful distance nearby. We learned he...
Please don’t tell me “Everything happens for a reason”
No matter where you are on your special needs journey, one thing is guaranteed: you will hear “everything happens for a reason” regarding your child. (Going forward, I christen this...
A Caregiver’s Challenge
Last week my favorite jeans didn’t fit. They were too tight. And no, despite my best attempt at self-deception, the dryer didn’t shrink them. A step on the scale verified...
Confronting the future with sweaty palms
Recently I attended a special needs parenting conference to prepare for my son’s transition to adulthood. Although Jack is only 15, and legally entitled to 6 more years of schooling,...
Declutter Your Life Without Tossing a Thing
Our culture conditions us from birth to be busy, active people-pleasers. We all have the opportunity to take less on and say no but we often don’t. Why? Because as...
Anatomy of a Medical Crisis
It always starts out as an average, boring day, doesn’t it? I was home alone with my nonverbal son Jack. I flopped on the couch downstairs, settling into a Netflix...
The Battle Between Control and Acceptance
Mike and I love to problem solve. We continually evaluate our days and tweak here and there in an attempt to make things better. We keep a backpack fully loaded...
Free Soloing the Mountain of Caregiving
Mike has been away this week, so I’m holding down the fort, taking care of our 2 teenagers, one of whom has special needs. The timing is unfortunate because my...
The Movie Of Our Lives
One day a while back, I was in my car getting my NPR “Fresh Air” fix. Terry Gross had been interviewing someone whose name I can’t even recall, but something...
The Paradox of “This too shall pass.”
Life isn’t fair, yet my limited teenage experiences told me otherwise. Sheltered by my upper middle class upbringing, I would engage in some magical thinking, borne from the luck of...
I Want To Live My Life The Way I Wear My Hair
A comfort zone is a beautiful place but nothing ever grows there. Unknown A woman who cuts her hair is about to change her life. Coco Chanel You have such...
The Ripple Effect
Do you ever feel those days where you can’t get outside of your head? The days you are dragging, going through the motions, wondering if what you do even matters?...
Scary Bad Feelings Are Part Of The Package
Confronting our darkness brings fear down to size. “If we forbid ourselves to talk negatively about something, we block the awareness of grievances that need an airing as a prelude...
Adversity’s Syllabus
Mike and I were in a particularly hellish time trying to parent Jack, my now teenage son with special needs. At this point, Jack was only 5 and he flailed...
Coping with Grief
“You and everyone else has given me their prayers. These prayers don’t seem to be working at all!” My older, very outspoken neighbor said this to me yesterday when I...
The Life You Didn’t Choose: Navigating The Terrain Of A New Normal (Part I)
When your world collapses, nothing seems to matter. Basic hygiene becomes an accomplishment, instead of the prelude to accomplishments. You wonder how early is too early to go to bed...
The Life You Didn’t Choose: Navigating The Terrain Of A New Normal (Part II)
In Part I, I wrote about the challenges facing special needs parents in the early days of shock and grief at diagnosis and how these painful experiences can serve as...
When Life Comes At You Through A Windshield
So I’m sitting at the stop sign, waiting my turn to exit our housing development. Jack was buckled into the backseat and we were flawlessly executing our weekday morning routine...
A Different Type Of Grief
Has this ever happened to you? I was going about my normal business—I ran to the grocery store to pick up a few items we were low on, including diaper...
The trouble with “Welcome to Holland”
I feel conflicted about “Welcome to Holland.” It’s an essay I’ve been gifted a time or two over the years by well-intentioned organizations. Depending on the day, I love or...
The moment you realize your child is different
The moment I realized something was wrong happened weeks before Jack’s first birthday. We were visiting my husband Mike’s family in Washington. Mike’s parents’ house filled with his 5 other...
Feeling Stuck? A Different Way To Handle Monotonous Repetition
Have you ever just had one of those days where you ask yourself, What just happened? You’re exhausted, but have nothing really tangible to show for your efforts that day....
What’s the Big Deal Anyway? When You’re Afraid You’re Being Too Demanding.
A teacher friend of mine told me this story about waiting in line at school with a first grader in a wheelchair. It was picture day and my friend’s task...