In celebration of Rare Disease Day on February 28, 2022, the WSS Foundation led a storytelling experience featuring individuals with WSS and their parents. This story comes from Stacie Arnell in USA as she shares her daughter’s journey and a message of hope and support for others with a rare disease.

By Stacie Arnell, USA

The sound of a helicopter, always drawing my eyes heavenward, wondering whose child and what parents are living a nightmare.  I’m grateful that this time it’s not my daughter. 

Our family is at the movie, but Miss Briar Rose is more enthralled with the trays that move in front of the seats.  She moves along our family mimicking the countless phlebotomist who have drawn her blood.   She pushes the tray in front of us and reaches for her imaginary needle.  “Hold still,” she says, “just one poke.”

Briar Rose sees someone in scrubs, she yells and waves excitedly, “Hi Doctor Friend!”

10 hospital stays.  Countless ER visits.  Numberless doctors appointments.  Dozens of procedures.  1 life flight.  Therapies for feeding, development and speech.  Then add in the equipment.  A g-tube in her belly and a feeding pump to deliver nutrition to her body that just won’t grow. Daily injections.  An oxygen tank, a nebulizer, monitors, to help us keep her breathing.  Wires and tubes, alarms and beeps.  This is the life of the rare.  Those with rare diseases. 

And yet, this pint size child has the happiness and personality that are giant size.   She smiles and laughs and plays as if she hasn’t endured more pain, sickness, and suffering than any adult should ever have to go through. 

Briar Rose has always been a bit of an anomaly.  She had little quirky medical things from birth. But our first clue was that she wouldn’t eat well and she just wouldn’t grow.  Although she had little fevers before, when she was almost seven months she spiked a fever of 105, and because of bloodwork, was immediately admitted to the hospital.  There, her first feeding tube was placed.  But nobody could figure out why she had a fever.

Subsequently she began feeding therapy.  Simultaneously she continued to spike high fevers every two weeks.  This began the road to genetic testing. 

I can’t stress how important genetic testing is in the life of a rare.  Without it questions go unanswered.  Paths are unclear.  And a feeling of wandering aimlessly never ceases.  And sometimes genetic testing gives no answers.  But that in and of itself is an answer and a direction and some clarity.

We knew that Briar Rose had a periodic fever syndrome, but were hoping genetic testing would pinpoint which one.  Periodic Fever Syndrome is characterized by frequent inflammation and fevers of unknown origin. There are more than 50 types.  For Briar Rose we could set a calendar and plan family vacations around her fevers.  But genetic testing didn’t turn up a specific known mutation for periodic fever syndrome.

Instead, genetic testing gave us an answer to all her other health issues.  Wiedemann-Steiner Syndrome.  Wiedemann-Steiner Syndrome is characterized by short stature, feeding difficulties, developmental delays, early teeth eruption, special facial characteristics and many many other things.

Wiedemann-Steiner Syndrome is a spectrum disorder that affects every child differently.  For Briar Rose it affects almost every aspect of her life and body. It means she is about a year behind developmentally.  She is 29 lbs at 5½.  She gets supplemental nutrition through her gtube.  She also suffers chronic respiratory infections. She is severely far-sighted.  She has many small physical defects such as 10 sets of ribs and fused vertebrae in her spine.  

Many kids with Wiedemann Steiner Syndrome might not have as many medical challenges as Briar Rose and may have more developmental challenges.  Many are diagnosed with autism or ADHD and have behavior issues.  Some are more physically challenged with low muscle tone. Many have feeding and digestion issues. 

Wiedemann Steiner syndrome is so rare none of our team of doctors had heard of it.  Without genetic testing none of her amazing doctors would have been able to detect it.  But because of genetic testing we were able to connect at all levels with other parents whose children have challenges.

Locally Utah kids helped us find the auto-inflammatory alliance that walked us through getting genetic testing.  When we received a diagnosis of Wiedemann Steiner syndrome we were able to connect with a group of about 150 parents who were able to give us incredible answers, insights, and experience that have been completely life-changing.

Getting a diagnosis for the RARE allows everyone the chance to find others across the world with the same diagnosis.  I cannot explain how precious and important this is.  For Briar Rose it meant that we knew she would be small no matter how many calories we pushed.  It meant knowing what testing needed done to find her fused neck.  It meant clarity and perspective and hope. 

To those with who are Rare I encourage you to keep moving forward, keep pursuing genetic testing, and keep reaching out to others.  Our small group of Wiedemann Steiner kids is now over 1000 strong.  We know there are hundreds of others out there who may just seem to have autism or learning challenges but in reality have WSS.  We are looking for them and want all of the RARE to have a community of help and support as incredible and wonderful as we have had.

Briar Rose would never be where she is today if it weren’t for a remarkable and thorough pediatrician and the absolute best rheumatologist, GI, and team of other doctors who are incredibly willing to listen, have patience with me, and just dig in and advocate and keep Briar Rose living her best life.   

TO the RARE– keep going, keep hoping, keep finding strength.  Find doctors who will listen to you and share in your journey.  Being RARE can be a beautiful but challenging ride that few who have not been there understand.  But we hear you.  We get it