One Family’s Journey To An E.D.S. Diagnosis

One Family's Journey to an E.D.S. Diagnosis M's Zebra

One Family’s Journey to An E.D.S. Diagnosis

EDS is known to cause frequent dislocations of the joints. I remember hearing that my first dislocation had happened when I was three, but the stories about how it happened vary.  I found this slip of paper from a hospital showing that something had happened to my elbow when I was only 1.5 years old that warranted an X-ray.  So, it seems I may have dislocated that elbow twice.  I became a fairly careful child and haven’t had any documented dislocations since then.

One Family's Journey to E.D.S. Diagnosis Childhood Elbow Report

I was diagnosed with asthma and allergies as an infant, but when my digestive problems started getting really bad around ages 8-10, nobody thought to test me for food allergies/sensitivities.  Over twenty years later, I discovered that these were the cause of my digestive woes, not IBS or just lactose intolerance.

I remember when I was about 10 seeing an ad for a fiber supplement that promised to make you “regular.”  I asked my mom what they meant by that.  When she explained it, I was baffled because I could not remember ever having been “regular” at all.  This was when she really started to worry and got the doctor involved.  They wanted to do the scope, but they scared me by calling it a surgery.  The prep failed to produce a movement and so they canceled the procedure.  And thus I remained without answers until I began seeking them myself as an adult.

It was also around age ten that I started having trouble with insomnia.  I remember lying in bed in a near panic because I believed I had somehow forgotten how to fall asleep.

A couple years later, right around the time puberty hit, my knees started going out.  I had stopped swimming on swim team and tried to join track.  First, my asthma stopped me, then my knees.

My knees would just stop supporting me and I would fall: often on the stairs of my Jr. high school building.  They hurt a lot and it was embarrassing to collapse for no known reason.  For much of 8th grade I went to physical therapy and did alternative gym by myself.  My teacher didn’t know what to do with me, especially since we were meeting during the rest of my class’ regular gym time.  I would do my PT exercises and she tried to teach me how to juggle.  I got decent at juggling two things in one hand, but never did master tossing things between my hands.  Looking back, juggling is not a great exercise for someone lacking in proprioception.

I saw a specialist of some sort for my knees.  He came so close to diagnosing me correctly.  He pulled my parents’ thumbs down towards their wrists.  Neither could touch, but they both came within an inch or two.  Mine could touch whether it was bent forwards or backwards. He declared that my parents were pretty flexible for their ages and that my knee problems were due to “hyperflexibility.”

I think a doctor, a friend and a random acquaintance had all mentioned EDS to me at various points and I had brushed it off because I didn’t think my problems were severe enough or that my skin was stretchy enough, and I forgot about it.

It wasn’t until a friend got diagnosed near the beginning of 2015 (shortly after I had finally gotten the food allergy testing) that it really clicked for me.  She shared about her diagnosis and some awareness memes and links on her Facebook page and my eyes grew wide!  Here it was!  The missing piece from the middle of my medical mystery!  The connective tissue disorder that brought it all together and made it all make sense!

I joined her Facebook support groups and made an appointment with her rheumatologist.  I was disappointed when the rheumy diagnosed me with joint hypermobility syndrome and wouldn’t change it until a geneticist said otherwise.

Journey to E.D.S. Diagnosis Ring Splint

I called the geneticist my friend had gone to and his office said that he was no longer seeing hypermobile adults.  They suggested I call Dr. Tinkle’s office in Chicago.

Dr. Tinkle’s waiting list was closed and I was hearing rumors that it could take at least two years to get in to see him!

I tried the next nearest geneticist and was able to get an appointment a year out.

I followed the support groups and learned more and more.  At some point, someone shared this article [] on recognizing hypermobility in infants and I looked over at my little boy who had recently turned two and my eyes went wide again.

One Family's Journey To E.D.S. Diagnosis Son

We were late getting him in for his two year well check, because he hadn’t been well the first two times it was scheduled.  When we went in, over a month later, I brought up the possibility with his pediatrician and she agreed to refer him to genetics.

I called back the first geneticist and got an appointment for my son in July.  I wish I had taken my mom and daughter along as well.

When the day finally came for his appointment, I had nervously over prepared.  As we began talking about family history, I pointed out that due to his new policy, I still had to wait over six months for my appointment with the other geneticist.  I was signed on as his patient immediately and diagnosed on the spot, as was my son, with classical type EDS.

A month later, my daughter began kindergarten.  When it came time for parent-teacher conferences, her teacher shared some concern over her writing and coloring and said she seemed to have low muscle tone in her fingers and hands.  I brought it up with the pediatrician and she said that my daughter certainly isn’t as obviously hypermobile as my son and I, but there’s enough there along with the family history to make it worth looking into.

One Family's Journey To E.D.S. Diagnosis Girl

The geneticist disagreed, without ever seeing my daughter, and refused to make an appointment.  He said, “Maybe in another five years, if she’s having a lot of pain and dislocations.”

I looked into getting an occupational therapy assessment done for her.  The school should be providing a free one, but it is months later, and it hasn’t happened yet.  They also warned me that without a diagnosis, she can’t officially receive any accommodations.

So, now that her first year of school is winding up, I’m stuck between how much to push for and how much to just let go.  She’s still able to not only keep up with, but to exceed her peers in almost all the academic standards they tested for, but I know she’s not reaching her own potential in everything.

So, I’m still in the thick of it with this journey.  I’ve gotten some great support tips from members of these groups and I’ve been very lucky with finding doctors and support staff who either are familiar with EDS already or who have been willing to learn and help me the best that they can.

M's purple zebra Handcrafted Journey to E.D.S. Diagnosis

The author uses her artistic talents to create jewelry, clay shapes and beautiful drawings to spread awareness everywhere she can while tending the constant needs of herself and her children.

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  • By Monica, May 10, 2016 @ 6:31 pm

    Update: the school finally did the OT assessment and sent the paper home today. It basically says she is performing at appropriate levels for her age, but would benefit from exercises and a pencil grip. If anyone has any tips on making her think the pencil grip is a good thing and not some sort of torture device, I’m all ears!

  • By Hannah @Sunshine and Spoons, July 3, 2016 @ 2:33 pm

    This sounds eerily similar to my own family’s diagnosis story!

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