Our Story

Our Story, Just One of Thousands

Our EDS story is similar to countless others:  My husband, son and daughter were all born with Ehlers Danlos Syndrome but had no idea they were living with a potentially debilitating connective tissue disorder. In Emily in particular, we noticed the extreme flexibility, clumsiness, strange injuries and nightly leg pain at a young age, but our vague concerns were dismissed by the doctor for years as growing pains and so we just carried on. In September 2009, we got a clue we could not ignore and thus began our journey.

The Prologue

On September 8, 2009, my 10 year old daughter, Emily, blithely went to gymnastics, excited because we had finally caved and were letting her train to join the competitive team. During warm-ups at the beginning of class, she did a simple handstand and her patella dislocated – a very unusual superior dislocation. X-rays and an MRI revealed no damage, but we were still in the dark as to why a 10 year old would dislocate her knee with absolutely no trauma. Her casual admission that she had dislocated both knees several times previously was baffling.

It Was All As Clear As Mud

Her physical therapy evaluation shed some light on the situation – we were told it wasn’t just her knees, all of her joints were extremely lax and at risk for dislocations. No label was given to explain her symptoms and I was even told it couldn’t possibly be EDS when I brought it up. Joint preservation was emphasized and  we were told competitive sports needed to be avoided. The idea of no more gymnastics was devastating, but we had hope Em could at least do gymnastics for her own enjoyment. Sadly, since the day of her knee injury, she has never been able to get back to gymnastics.

The ‘big’ dislocation was the beginning of a downhill slide – she was eventually dismissed from PT because of increasing hip and back pain. Both knees continued to dislocate and with increasing frequency. Her fingers began to dislocate, while playing guitar or typing. She struggled with pain, fatigue and ongoing injuries but did her best to live normally while no one had a clue what was wrong.

Hitting The Wall

In May 2010, we went to the zoo with our homeschooling group and she walked around all day. The next day she was in excruciating pain and was actually bedridden for a few days. She could not take a step without crutches. We knew something was terribly wrong and starting researching again. It didn’t take long (about 10 minutes into a serious internet search) to realize that indeed it was Ehlers Danlos Syndrome. While she continued to get worse and battled pain and fatigue and constant dislocations, we started the journey to get an official diagnosis. It also became very evident that my husband and son also have EDS, although neither of them are severely affected by the condition.

It is Always Darkest Before Dawn

In August 2010, as we were waiting to get to a specialist to get a diagnosis, the dysautonomia symptoms started and were absolutely devastating, leading to a rapid decline. Em ended up in a wheelchair after severely injuring her foot, resulting in RSD. (Sadly, the wheelchair was not temporary – more than 2 years later, she still has the wheelchair and eventually got a scooter). Then the neurological symptoms started and the frightening downward spiral accelerated. She ended up spending several miserable months in a darkened bedroom – severe headache, dizziness, orthostatic intolerance, severe light and sound sensitivity, and nausea. She lost weight and I felt like she was slowly slipping away from us. We started thinking Chiari and/ or cervical instability and knew surgery was likely.

Finally, A Diagnosis

After seeing several rheumatologists, we eventually got to Dr. Tinkle, a connective tissue expert and true EDS expert, at Cincinnati Children’s Hospital. Almost a year after I determined Emily had EDS, he diagnosed her with the Hypermobility Type of EDS. Getting to Dr. Tinkle and getting a diagnosis led to referrals – some helpful, some not so much – and it was the beginning of painfully slow improvement.

And Some Hope…

Since then, her pain and poor sleep are successfully being addressed and we have found a way to address the Neurological and POTS symptoms that hopefully allows her to avoid surgery. In June of 2011, I Providentially found the Driscoll Theory and, after much drama and angst, got effective treatment for this debilitating constellation of symptoms.

We have a host of doctors – a geneticist, a pain management doctor, an allergist, a GI motility specialist, an orthorpedic doctor, a neurologist, and a pediatrician… and there are a few more that would be helpful to add to that list. Our medical team is a work in progress, but it is one of the main reasons we have made progress over the last couple years. We have fired some and replaced them – we have a couple who need to be fired but, on the whole, we are finding our way with these professionals.

Step by Step

Piece by piece, we have painstakingly gathered the answers to this amorphous puzzle called EDS. The right medication, a helpful and compassionate doctor, a casual mention on a forum… each is a crucial piece in the puzzle. And with each piece in place, our understanding grows. We are slowly getting a grip on this vicious thing that attacked our daughter and are working hard to beat it.

She will still need ongoing therapy and face the unavoidable challenges associated with EDS – it is, after all, an incurable genetic condition. The neurological issues are being treated, not cured and will likely always plague her.  There are so many co-morbid conditions that we are now dealing with: mast cell disease, gastroparesis, vitamin D deficiency and maybe more yet unknown. However, we now have hope for the future whereas for much of the past couple years, we had precious little hope.

The Reason I Write

I originally started this blog, in 2011, at the very beginning of our lowest point, to record our journey through the dark times I knew were coming, so I would have a place to not only note her symptoms but a place to vent, to say what I could not say out loud to my loved ones.

I now feel incredibly blessed that we found real answers and effective treatment for the worst of my daughter’s symptoms. In many ways, this blog has morphed from a place to record my despair to a thankfulness journal and a platform to share as much information about the Driscoll Theory and our other successful treatments with as many people as possible – to encourage others who are travelling the same path my family is.

Our experiences are nothing special – countless families living with EDS have nearly identical issues.  The real blessing of social media and blogging, is that we can learn from each other and support each other, and make the lives of our kids better. I deeply appreciate anyone who reads and comments and I love hearing about your experiences and thoughts.  If you would like to start by reading the first post, start here: Welcome to our life or you can use the Tag cloud, archives or search bar to search for specific information.