Mom- Can you do this!?

Gabriel's first EKG

I'm blessed that Gabriel still considers it a gift to be unique!  We all should, but far too often we rather fit in than stand out.  When Gabriel learns something he can do, that no one else he knows can, he stands a bit taller.  Who knew licking your elbow could make you feel like a superstar.

Yeah, I said it.  Licking your elbow.  I know, its silly, and strange.  Gabriel has a genetic connective tissue disease known as Ehlers Danlos Syndrome. Matter of fact, so do my sisters, myself, and my mother.  I'm confident that I can trace it back at least 5 generations.  This joint disorder shows different in everyone.  We've learned that while the disease is genetic, the symptoms and severity are not.  For example, a parent might have a 'double jointed thumb,' while the child can't walk cause their knees always collapse.

Gabriel was 3 the first time he fell to the ground screaming.  He grabbed his knee and rocked back and fourth on the  kitchen floor.  Gabriel's kneecap was on the side of his leg.  It doesn't take a doctor, a nurse, or even a parent to recognize that that is not where a kneecap belongs.  I carried him to the couch, grabbed him so ice, and quickly tossed action plans around in my head.  "should we run to the ER?  Maybe we'll wait a few and see... Maybe We should just go to the doctor in the morning..."  As a parent, you hate to see your child in pain, but with something so new, so unique, and somewhat bizarre, I took a minute to think about a plan.  I grabbed Gabriel's ankle so that I could move his pant leg to take another look.  The whining stopped.  Gabriel got up, wiped his cheeks, and went back to playing.  That was it.


By the second time this happened I realized this wasn't a fluke.  Do I make an appointment knowing that 3 minutes later his kneecap is where it belongs, and there are no signs or symptoms of an injury?  What could the doctor possibly have to examine?  By the 4th time, we went to the pediatrician.  The doctor didn't say much, but wanted an orthopedic to examine his knees.  I agreed.   I though the lack of conversation meant "they look ok to me, but go see a specialist."

A week later the specialist's office called me.  They weren't comfortable taking this case.  They referred us to Shrines Children's Hospital.  Shriners? For his knees?  I started to think that the silence meant something more.  Shriners was scary for us.  It was incredible, the most wonderful experience at a doctors ever, but it was scary.  Shriners is 100% non profit.  They except only donations, and don't bill any patients or their insurance.  They turn down no one, and treat extreme health situations that other doctors refuse.  The waiting room was filled with children who had missing limbs, children who were covered in gauze from near deadly burns, and children who couldn't walk.  I felt like we didn't belong.  Gabriel's knee was no big deal.  Or was it?

The staff was amazing.  Every doctor and nurse made it their job to make Gabriel smile.  Every patient is treated like a king.  We laughed the whole visit, through x rays, and tests, painful exams, and boring consultations.  Gabriel loved Shriners.  The orthopedic examined Gabriel and brought in another doctor. It was one of those "hey, check this out!' moments.  The bone specialist's answer was vague.  He told us that some disorders than can affect the joints, can also affect important organs.  We needed to see a geneticist.  It was a scary week waiting for that appointment.  What organs?  What could happen?

We were back at Shriners a few weeks later to meet the geneticist.  She diagnosed Gabriel, Myself, my sisters, and my mother with something called Ehlers Danlos Syndrome.  Connective tissue lives in our skin, holds our joints together, and provides strength to our heart, colon, eyes, and veins.  Weak connective tissue, caused by this disorder can do more than affect your knee caps.  EDS can cause dangerous heart problems, early arthritis, chronic joint pain, scoliosis, uterine and colon rupture, scarring, poor skin healing, and more.  Suddenly, I understood why we were at Shriners.  And suddenly, my family tree of non-athletic women made sense.  I had back problems starting at 15, and surgery by 21.  My sister had carpal tunnel surgery in both arms by the age of 18.  Christy, my other sister, has suffered from chronic knee problems.  I was diagnosed with TMJ, scoliosis, and arthritis.  My mom has had surgery on her knee, both wrists, twice on her spine, and has suffered from connective tissue related complications with her bladder, and a minor heart valve prolapse.  Weak skin that results in scarring and stretchmarks affects all of us.  How did someone not make sense of this sooner?

Suddenly Gabriel's wobbly knees meant that he would need EKG's and Echocardiograms to check on his heart every year.  Because Gabriel's joints are already significantly weak and hypermobile at such a young age, we will take precautions.  Gabriel will never be a football star, and running might not be his forte.  As soon as he is old enough to focus, Gabriel will start physical therapy, and may even wear braces.  We will continue to check his heart for abnormalities, and for valve dilation.

Gabriels proud that he can lay his thumb flat against his forearm, and he loves that he can stand up straight while his knees are bending backwards.  Gabriel loves being unique, and showing off what he can do.  His flexibility allows him to bend in incredible ways.  I imagine him to be a phenomenal gymnast or a swimmer.  And every time he turns his arm around and licks his elbow, he says "Hey Mom! Can you do this!?"