How rare is rare?

I recently submitted a story to the National Organization of Rare Diseases. They are asking for written submissions from anyone affected by one of the many thousands of rare diseases. This is all in preparation for their annual Rare Disease Day, held this year on February 28th. They raise awareness and funds to support research for rare diseases. What I submitted to them was a brief summary of how rare disease affects our family.

My second daughter was born without complication. Being this was our second child, we had a certain amount of satisfaction knowing that this time we had experience caring for a newborn. This would be a breeze! At one of her early visits to our pediatrician, he mentioned that her head looked "odd". Dr Eddie said, "You are going to think I'm crazy. I like to research rare genetic disorders in my spare time and I think she has something called Klippel Feil Syndrome." 


At about 6 weeks of age, she was sent for a cervical spine xray. Diagnosing KFS is as easy as looking to see if any of her cervical or neck vertebrae are fused. Or it should have been easy. Our local "small town" radiologist confirmed Dr Eddie's proposed diagnosis. But because of the rarity of the syndrome, a pediatric bone specialist was called in to give his expertise on the matter and to verify what the radiologist believed he was seeing. This specialist informed all involved that J did not have KFS. It was just a simple case of torticollis that will resolve with some physical therapy. Great news! We signed up for physical therapy and after a grueling 6-7 months of manipulation of my poor girls' congenitally fused neck, we were sent to another specialist...who sent us to another specialist. We ended up at Shriners and on our first appointment it was confirmed. She had KFS which opened up a whole Pandora's box of associated conditions leading to a kidney ultrasound, echocardiogram, urinary function evaluation, more xrays, MRI's and a few audiology tests. She ended up with a diagnosis of KFS with a Sprengel's Deformity and tethered spinal cord. And later add to it a swallowing reflex delay and speech delay and we've got J turned inside and out. But at least we now had a direction. 

I imagined going home that day of the diagnosis at Shriners, to google Klippel Feil, finding all sorts of detailed information. Definitely more than the small bit I received at our appointment. I imagined whole websites dedicated to the condition. Information was what we needed. To make a long story short...there was nothing. Nothing! So how do we help this girl? How do I know what to do and most importantly, what to expect? Nothing. No clinical trials available, no known etiology, unknown incidence in the population. Nothing. 


So here we are four years later and we have put together more information than most pediatricians have. I have been in contact with numerous parents of children with KFS and read their blogs and facebook posts. I watch and learn. I guess since there isn't any research being done on KFS, I'm trying to put the puzzle together myself. 

There are over 7000 rare diseases affecting adults and children. An estimated ten million people are suffering from a rare disease and they have no where to turn. My family is lucky! J's prognosis is good, but there are many people suffering from rare diseases that aren't as fortunate.

It is true that if we knew more about KFS, we may have been able to diagnose J earlier. She wouldn't have had to cry and scream through hours of physical therapy to correct a condition that can not be corrected. I sat and watched this happen. It is also true if we knew more about the associated conditions, we would have been prepared for her swallowing delay and not just assumed that she liked to breastfeed. J has been through a lot! She has taught us a lot. Dr Eddie likes to say to J, "Again, you have taught me something new." 


It would have been nice to help her earlier. Instead, she is the one who teaches and helps us understand. Hopefully, so we can share our knowledge with others.