Spondyloarthropathy: How Strep Throat resulted in Juvenile Arthritis

She does not meet the Jones Criteria,” with this proclamation, the pediatric rheumatologist delayed my daughter’s Juvenile Spondyloarthritis (JSpA) diagnosis by fourteen years.

Britt was a happy blue-eyed baby, exhibiting wit and opinion early on.  Repeated tear duct infections and occasional unexplained mouth sores were a puzzlement. Then she took a flight over her bicycle handlebars in the summer of 1992.  I gently dabbed at the scratches on my adventurous little seven year old, and gasped as I brushed back her hair.  She had a huge protruding bump from the bridge of her nose to her hairline. Off to the hospital, and a scan revealed the hairline skull fracture.  At first glance, the ER staff assumed she’d been hit by a car.  A terrible fright, but as these things go it was not so severe.  No bleeding into the brain, and they told us to expect Racoon Eyes.  Turns out her immune system took the brunt of the injury. 

A few weeks later, she came down with Strep Throat.  Not alarming, of course.  However, her immune system had a mind of its own.  She was treated with Amoxicillin, and within 2 days of completing the antibiotic course, the fever, sore throat, and headache of Streptococcus would return.  Repeatedly.  During the course of these infections, the one available doctor in our small town only tested her for mononucleosis.  I know with all certainty she had strep, but could not have known how pivotal this detail would become. 

Our family has a predisposition to Streptococcal infection.  My father and uncle suffered severe strep infections in the years before antibiotics, with throats swelling nearly closed.  As a child I was severely ill at my first onset, and had repeated strep infections as a teen.  My brother is also succeptible to strep and becomes seriously ill.  My strep led to Mononucleosis, while Britt’s led to Rheumatic Fever.

Instead of recovering from strep, Britt became more seriously ill.  She had nosebleeds at night, sores at the corners of her mouth, needed long naps, lost 5 pounds, and most significantly, developed a large swelling in her neck.  When our doctor declared this to be mini Mumps, I took her to another family physician in a nearby town.  He was so alarmed that he arranged a same-day appointment with an otolaryngologist in Austin, our nearest city.

He took Britt’s history and did a fine-needle biopsy of the nodule, which revealed little due to lengthy Amoxicillin treatment.  He prescribed a strong dose of Augmentin, and said let’s try this for a week.  After that week, the nodule had not changed, so he hospitalized her.  Seven days of intravenous antibiotics had no effect on the large nodule, so he performed surgery.  Our fears ran high, because we did not know for sure that this was not a tumor.  And to keep us calm, the hospital business office phoned her room the morning of surgery, demanding $600.  I may have let fly, but this is clinically unconfirmed.

Surgery revealed a sizable abcessed lymph node.  Combined with her unusual sypmtoms in the days prior, this fits the profile of Rheumatic Fever.   Britt came home from the hospital with a surgical drainage tube protruding from her neck.  She continued antibiotics, and we had to manipulate and carefully clean the tube twice daily.  I have a thing about necks, and cannot stand a tight collar or necklace.  But you better believe I put on my Calm Parent Face and did what needed to be done.  She started Second Grade with the tube, a large neck bandage, and a box of 64 crayons.

About six weeks later, Britt crawled to our bedroom in the middle of the night.  Her wrists and ankles were locked and painful.  Somehow, we never cried through this, just calmy made decisions, remained optimistic, and held on to what was good.  Our new family doctor saw her that morning, and again arranged a swift appointment with an orthopedic surgeon.  The orthopedist took Britt’s history, and also noted a fine, pinpoint red rash on her thighs.  Lab tests were normal, but for an elevated ASO titer, indicating recent streptococcus infection.  This is remarkable in that a few weeks had passed since the active infection.  His assessment was reactive juvenile arthritis, and that clearly she’d had Rheumatic Fever.  He arranged an appointment with a visiting Pediatric Rheumatologist, four months out. 

jones-criteria-1992-search-results-sept-2016Search results for revised Jones Criteria 1992.  Britt is at middle right.

Rheumatic Fever is considered rare these days, but that doesn’t preclude the possibility.  I was  sobered to find my daughter’s second grade photo when searching the diagnostic criteria for this article.  On a positive note, I am grateful my original blog post related the diagnostic tale.  She is the little Second Grader at right, in a 1990s floral dress, with remnants of Racoon Eyes and a scar on her neck.

Awaiting her appointment, Britt continued to have painful joints that would lock up, including her wrists, ankles, hips, and rib joints.  Some days were better than others, and she did well enough with strong doses of ibuprofen.  Sitting in school would make her stiff, and oddly enough so would a warm bath.  She never cried, and really only needed help after her bath.  I’d wrap her in a thick, warm towel, and tried to not make a big deal over the seemingly new normal.  We prayed this were temporary.

britt-jaye-2nd-grade-sept-92

The Pediatric Rheumatologist was seeing patients in an open, corner section of the main entrance at the hospital.  She wore a red business suit and heels, and brought this kind of warmth to a child in pain and a mother with questions and fears.  I explained her history, and that the orthopedic surgeon believed she’d had Rheumatic Fever.  She haughtily declared that Britt did not meet the Jones Criteria for diagnosing Rheumatic Fever.  This was January 1993, when in fact the Jones Criteria were updated in 1992.  She met the revised criteria.

jones-criteria

She diagnosed Britt as hypermobile, but declared she did not have juvenile arthritis.  I explained that every time we tried to slightly reduce her dose of ibuprofen, she would have definite backlash in pain and stiffness.  Despite all presented, she ordered no follow-up appointment, x-rays, or labs.  We were on our own.  I dug through dusty volumes on arthritis, in the back of our small-town library.  I found only anecdotal paragraphs on Juvenile Arthritis.  My only resources were direct information from doctors, or books.  Let that sink in for a while.  How fortunate we are today to immediately find and share information.

Britt continued to have symptoms that would wax and wane, and in retrospect, recalls how often she had lower back pain sitting in elementary school.  The presumed reactive and temporary arthritis never quite went away.  When she was ten, I scheduled an appointment with an adult rheumatologist in Austin.  I related her history, and explained that her symptoms had continued off and on.  We just needed an answer, and a plan of management.  Instead, I was firmly told, “You don’t want your child to have juvenile arthritis.”  That was the depth of his curiosity, and his only accurate observation.

We moved our family to Alaska in 1996, just because.  Britt’s “arthritis or whatever-it-is,” as we came to call it, moved along with the family.  We found an excellent pediatrician, and as her joint problems continued, he scheduled a visit with a visiting pediatric rheumatologist from Seattle.  Again, this was quite a wait, but this doctor was helpful.  Given her history of strep, and extensive physical exam, he believed she had “one of the Spondyloarthropathies.”  Still, when her labs showed her to be negative for HLA-B27 marker, definitive diagnosis still eluded us.

So I became an eMom, searching on my beige Mac Performa 6320 through long winter nights.  I learned how to spell Spondyloarthropathy, read about the family of related diseases, and understood the process of her ligament pain known as enthesitis.  Despite the negative HLA-B27 result, so many things fit with the rheumatologist’s assumption.  Still her diagnosis was not proven.  What we did gain was confirmation that something rheumatic was present.  After a time, she saw an adult rheumatologist in Anchorage and some first-line arthritis meds were tried.  These did not agree well, and ultimately she was only able to handle the prescription anti-inflammatory Celebrex, and Tramadol for pain.

Britt can best paint the picture from her teens through age 20, when her diagnosis was finally confirmed.  We had relocated home to Texas, while she was finishing college in Montana — and struggling mightily.  She would call me and just say, “Start talking, Mom,” because her lower back pain was so intense.  So many times, we feared this would be the moment she would have to quit school, and we would move her back home.  However, quit is not in her vocabulary:  she speaks resiliance and adaptation.

In Montana, she came to a point where an oncologist was the only available physician who could see her.  The resident rheumatologist had been quite dismissive of her health complaints.  The oncologist told her she needed to get to the Mayo Clinic or NIH, and said, “I’m sure your parents are concerned at seeing their daughter deteriorate.”  At that, I cried.

We flew her to Dallas to see a top rheumatologist, and given her full history, he definitively diagnosed her with Psoriatic Arthritis (one of the spondyloarthropathies).  She began a biologic, and complimentary meds.  Validation of pain and suffering, and possibility was profound.  Her diagnosis has since been amended to Undifferentiated Spondyloarthropathy.  Radiography confirms the diagnosis, while available lab tests of course do not.

My message to patients, parents and physicians is remain curious. Be persistent. Do not make assumptions.  Consider the whole patient and full history.  No symptom is insignificant.  Keep researching your own condition.  Don’t be put off if a healthcare professional is condescending toward an informed patient.  Be cautious with infection, specifically Streptococcus, which can sometimes be deadly.  More and more research reveals the correlation between streptococcus and other bacterium with autoimmune arthritis onset.  Trauma itself also recognized as an autoimmune trigger. 

Researchers are also finding more and more genes directly involved with the spondyloarthopathies.  HLA-B27 is present in some populations, while new discoveries pinpoint the IL23R and ERAP1 genes as key in others.  The latter two have recently been discovered in my genetic profile, and undoubtedly were a potent mixture in my daughter’s onset.  

I have great hope that with expanded testing, fewer patients will have to wait more than a decade for diagnosis and aggressive treatment. If one family benefits, or one rheumatologist learns from my daughter’s story — my soul is happy. 

RA: Master of Wisdom & Tomfoolery (#RABlog Week)

Several decades in, I thought I had life figured out.  Rheumatoid Arthritis has a way of screeeching perceptions to a halt, like a phonograph needle dragged across a vinyl record.

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A great master of wisdom (and tomfoolery), RA has taught me 5 things:

Patience:  The greatest lesson of Rheumatoid Arthritis is patience.  You must be patient through the worst days, the worst hours, and tough through the worst moments.  You must be patient with your emotions and allow yourself to grieve, but don’t forget to move on.  You must be patient when your pain is less, but then the tomfoolery of autoimmune exhaustion suddenly hits.  You must be patient with your family when they try to help too much, or the times they forget.  You must be patient with the general public, who can in fact be very general.  You must be patient with your doctors, nurses, technicians and staff.  Reserve your impatience for automated phone calls (i.e., free cruise to the Bahamas!).
Creativity:  Perhaps the greatest pain relief I have found is creativity.  I sit down to write, play with graphics, push paint around (poorly), or get lost in the meditative art of nature photography and I lose most perception of pain.  The minute I complete a creative pursuit, the pain seeps back into all corners, new tissues, and my psyche.  The real act of creativity will be to train my mind to live in creative distraction.  And I’ll happily take some NIH research dollars toward that effort.
Laughter:   Ah, that cliche.  Yet laughter truly is the best medicine.  There are are physiological benefits to laughter:  it raises the endorphins, relieves stress, relaxes muscles and eases pain. But the real benefit is the pure joy of life.  Our home is filled with laughter through even the worst of times.  The running joke is that we need to set up a Snort Jar:  mom pitches in $1 every time the tall chronic kid makes her snort with laughter.  I’d be wealthy in every way.
Forget the Impossible:  When RA struck me overnight, I was immediately aware of the simple things I could not do.  My perception was that I needed help with many simple tasks. This despite having raised a child with JSpA autoimmune arthritis since age seven.  There are few times she has distinctly needed physical help, and in such case it’s been to simply reach out and offer a literal hand up.  Sometimes that’s all we need, or we need to prioritize differently in a given day.  When your body fails, it is so easy to focus on the cannot.  I am still training my mind to simply do at my pace, and damn the results.
Friendship:  The physical and psychological realities of Rheumatoid Arthritis and any chronic condition hit hard.  A very difficult lesson is that old friends who are mostly healthy simply will not understand.  They may attempt to empathize, but bail when you mention a little thing like: I’m starting chemotherapy.  Silence often follows.  What I’ve had to learn is that there are different friendships for different aspects of life.  New friends in the chronic life community are my immediate source of comfort, solace, laughter, and most of all understanding.  Old friends remind me of who I was, and who I will continue to be if I allow myself.

Feelin’ Near as Faded as my Genes

Feelin’ good was good enough for me.
There was a time when feeling good wasn’t even a thought for our little family.  A little daughter with honey colored hair and eyes as blue as the Texas sunshine, and two adorable little boys with black hair who were often mistaken for twins.  Looking back at old family photos is poignant for anyone, but all the more so when your children are later stricken with chronic illness.  I am a strong, strong girl, and rarely dissolve into tears over the state of my children’s current health, but those photos.  That makes me break down.  To think of the could have, would have, should haves.  Yet I hold on to continued possibilities in life and the beauty of each new day.  We live in joy and laughter, and fresh air.
 
B was one year in the rheum.
 
My daughter grew up with Ankylosing Spondylitis from the age of seven, and years later my youngest son would be diagnosed first with Crohn’s Disease.  A long, emotional journey, and a string of specialists led us to a more firm and complete diagnosis of Ehlers-Danlos Type 1, Dysautonomia (POTS) and Dilated Cardiomyopathy. He is disabled at twenty-four and has had to redefine dreams, yet has shaped a beautiful life of value.  My middle son is also diagnosed with Ehlers-Danlos Type 1, but it is much milder with him.  I pray that this remains the case.
 
Fast forward a few years from the photo booth, and my common expression is:  busted flat in Baton Rouge, feelin’ near as faded as my genes.  What I would give for the genetics of health to be different, but the same genetics gave me the beautiful, generous, creative souls who form my family.
 
Janis Joplin sums up the raw emotion of Chronic Life:  

 
 
Each day we deal with the harsh realities and limitations of chronic illness, but still prefer to see it as chronic life.  Perception is everything.  I spend my days at home with my son, and we study, laugh uproariously, play cards and chess, watch movies, act goofy, meditate, straighten out world affairs, discuss history, and spend time in the fresh air.  On his lowest days, he tells me his his heart is tired, or that it feels like a “child’s heart.”  He writes and plays incredible acoustic guitar music and in the time he has been ill, has taught himself a fine command of the German language.  A new goal is to do remote work as a translator.  This is life, redefined.  
 
Still, chronic illness is a thief.  
 
Based on those early family photos, I’d trade all of my tomorrows for one single yesterday.
 
 
 

Juvenile Arthritis: A Cautionary Diagnostic Tale of Rheumatology

Mini-Mumps,” he declared. 

This doctor was not our first choice, but we lived in a one red light town. The preferred doctor was near retirement and did not accept new patients. So we saw Dr. Second Best and he declared that seven year old B, presenting with sudden sore throat, high fever, and severe headache, had Mini-Mumps. This malady was apparently his own construct. When I questioned that it seemed like Strep to which our family is prone, he dismissed my concerns. Instead, he tested her for Mononucleosis. As I type this today, I am floored all over again by how ludicrous the notion. I was a young mom at the time, and I could have never foreseen how pivotal and life-changing this illness and proper diagnosis would become.
 
Of course the Monospot test was negative, and Dr. Second Best prescribed antibiotics. Still, she continued to languish with throat pain, fever, and the swelling on her neck grew to a 2” diameter lump. She lost five pounds, developed sores at the corners of her mouth, and for the first time in her life was having spontaneous nosebleeds during the night. When she did not respond to the antibiotics, we took her to Dr. Next Town. He took one look at her and thought it was strep and clearly more serious. He contacted an ENT in Austin, 45 miles away and arranged an immediate appointment.
 
The ENT was very concerned about the significant lump on the side of her neck and did a fine needle aspiration and some scans. The lump was not a tumor, so we were not dealing with childhood cancer. We were grateful beyond words. After a one-week trial of Augmentin, the ENT admitted B for intravenous antibiotics. Though still tired, she did well in the hospital, as the heavy doses of antibiotics calmed the illness. However, the lump on her neck did not respond. So it was time for surgery. As it turned out, she had an abscessed lymph node. He had to drain the abscess, and B was sent home with a soft rubber tube protruding from the surgical wound to allow the final drainage. David and I had to wear our Perfectly Calm Parent Faces as we gently tugged at the rubber tube and cleaned the area as instructed.
Second Grade
 
B started Second Grade with the tube still in place, and wore a large gauze bandage around her neck. She answered the glaring questions, but was excited to see friends and to use that box of 48 crayons. She continued to take antibiotics until the tube was removed and the surgery declared a success. However, a short time later, strep returned. This time, we saw only Dr. Next Town who never hesitated to test for strep and treat her appropriately. She would complete a 10-day course, and two days later the strep would return. It became necessary to take a prophylactic approach and keep her on daily Amoxicillin.
 
One September morn at 2 a.m., B crawled to our room in terrible pain. Her ankles and wrists were locked. This was beyond our experience and we did our best to comfort her. We did not quite know what to think, and wondered — a reaction to surgery, another infection? Dr. Next Town saw her immediately, and once again arranged an immediate appointment with a very kind pediatric orthopedic surgeon.
 
The orthopedist ran labs and did a physical exam, noting a pinpoint red rash on her thighs, and the fact that her surgical wound was slow to heal. His immediate assessment was that this was a reactionary arthritis from the illness. Even after weeks of treatment and intravenous antibiotics, she still registered an elevated ASO titer (indicates recent Strep infection). Based on this and the collection of unusual symptoms, he declared that she had Rheumatic Fever. He referred B to a Pediatric Rheumatologist and prescribed liquid Advil in a fairly strong dose for a seven year old.
 
It brings tears to my eyes to think of the pain and stiffness B had in those early days, yet how usual and tough she remained. She immediately seemed to accept that “what is” had changed, far more easily than her parents. Kids are resilient like that. We parents have to remember to embrace that good cheer, and just quietly wipe away our tears. She would become stiff after sitting for periods of time, and her nightly bath seemed to escalate rather than relieve symptoms.  After she bathed, I would help lift her out each night and wrap her in a thick, cozy towel. I donʼt believe she ever cried.
 
Sitting at her desk or cross-legged on the floor at story time was causing stiffness. So, I spoke with her teacher to explain what was going on. She was a tall, gray haired wife of a preacher, but failed the lesson on compassion. She suggested that B had enjoyed the attention of her hospital stay and surgery, and that she was trying to push my buttons. I am not making this up. This episode could comprise a blog post, but I’ll spare you the vitriol.
 
We waited four months to see a pediatric rheumatologist in Austin. During this time, B developed more pain areas including her hips and her rib joints. Her ribs would lock up and her hips would pop. As long as she remained on Advil, the symptoms were fairly controlled. Each time weʼd try to reduce the dosage, her pain and stiffness would increase. She would have good days and not so good days.
 
She saw Dr. Red Suit on a good day in January. This young pediatric rheumatologist wore stiletto heels and a bright red skirt and jacket to greet a seven year old. Not exactly warm and fuzzy. And it foretold the outcome of the appointment.
 

Dr. Red Suit examined B and peppered her with questions. When B had forgotten that her rib joints had been painfully locking up, the doctor lifted an eyebrow toward me. Her clinical notes would state that “the child could not recall rib pain.” I related to her that  the orthopedist believed B had Rheumatic Fever, and she haughtily told me that she did not meet the Jones Criteria. This was 1992, and I would find out years later that the Jones Criteria were amended that very year. She did in fact meet the new criteria.

Revised Jones Criteria, 1992
Nor did Dr. Red Suit believe that B had any form of juvenile arthritis, and declared that she was simply hypermobile. She suggested we discontinue the Advil, though I explained the cause and effect each time weʼd try to lower the dosage. Dr. Red Suit did not order labs, nor did she find a follow-up appointment necessary. We were on our own.
 
As the years went by B would still have intermittent pains, stiffness, popping joints, and was prone to ankle sprains. We would refer to it as her “arthritis or whatever it is,” and she recalls finding it uncomfortable to sit at her desk for a full day of school. When she was ten I tried again, this time with an adult rheumatologist. I explained her history, the presumed Rheumatic Fever, and her intermittent but ongoing joint pain. I emphasized that we just wanted to know why this was still occurring. After the briefest of exams, Dr. Dismissal chastened me with, “You donʼt want your child to have arthritis.”  No shit.
 
It would be fourteen years and several doctors later that B was diagnosed with Psoriatic Arthritis. This diagnosis was later amended to Undifferentiated Spondyloarthropathy, Rheumatoid Arthritis, and Sjogrenʼs Syndrome.
 
I still donʼt want my child to have arthritis. 

An Advocate for One

Back in the mid-nineties everyone was watching Seinfeld.  We caught up years later when it went to syndication.  Hubby and I were too busy raising our three little kids and restoring a 1921 Bungalow (well, just keeping the doorknobs on most days).

Our world changed when our seven year old daughter, B, awoke in the middle of the night with her wrists and ankles locked.   She’d had uncontrollable strep throat, followed by presumed Rheumatic Fever (specialists were in disagreement), and suddenly we were confronted with Juvenile Arthritis.  It was presumed to be temporary; when it proved not to be, I was suddenly that mother who was issued eye rolls by rheumatologists.   You don’t “want” your child to be diagnosed with arthritis one doctor told me.  To be fair, he was right.  I didn’t want her to have it.  Twenty-two years later, I still don’t want her to have arthritis.

For years, we contended with “normal” labs and disbelieving rheumatologists, all the while teaching our daughter to be strong. Come up with a good back story for that surgical scar!  Ride the bike, climb trees, play basketball — despite ankles that roll and rib joints that lock up and make breathing painful.  We taught her to keep dreaming.


I became an advocate for one, seeking answers.   We did not have the luxury of a second car, so while B was in school I walked my baby boys to the public library in their double stroller.  An outing in the dappled sunlight of tree-lined streets for them, and information for me.  I lifted heavy, dusty volumes off the shelf to find only side-note mentions of Juvenile Arthritis.  


This was the sole means of information for parents of children with arthritis in the early days.  We relied entirely on existing publications found in the library or browsed for newer research in book stores.  Years later in Alaska, I booked passage on the World Wide Web.  I spent long winter nights with my beige Mac Performa 6320.  The same old dusty volumes were now available electronically, and I sought information as to why her joint pain persisted and what form it might be.

 

Entrance to our neighborhood, adorned in ice fog
 
B finally saw a visiting pediatric rheumatologist from Seattle who shared my suspicion of Spondyloarthropathy.  Yet when the HLA-B27 test proved negative, this diagnosis was discounted by our local rheumatologist.   It was not until she was twenty-one that finally, finally a rheumatologist believed that she had Psoriatic Arthritis. That diagnosis was ultimately amended to Undifferentiated Spondyloarthropathy and Rheumatoid Arthritis.


The world has changed so much in the twenty-two years since B was stricken.  Information is now at our fingertips, yet diagnoses are sometimes still just as elusive.  


Despite the easy availability of information today, it is still just as important for parents to advocate.  First for your child’s medical needs, for awareness that Kids Get Arthritis Too, and to help your child find new ways to dream. Keep adventuring, even if the path takes a new curve.  You never know what you will find around the bend.


Autumn in the Chugach Mountains, Alaska
(our favorite hiking area & after-dinner drive)
 
When did Chronic Life visit you & how have you helped your child keep dreaming?