Our little Fally, our sweet little Zebra Princess. It started when she was born prematurely. She was quite healthy for an early birth minus some jaundice but otherwise she was complication free. To see her as a newborn you wouldn't have a clue that anything was wrong. None of her physician's picked up on anything. As a newborn she was diagnosed that she had acid reflux, easy no big deal and it resolved when she could sit up on her own. She was diagnosed with Torticollis, again, easy no big deal some adjustments here and there and she was fine after a couple of months. Other than those 2 little bumps in the road, the first year of her life was pretty uneventful. She was speaking early and very well at that. Her Fine Motor skills were impeccable. She could pincher grasp grains of rice at 9 months old. However, her gross motor skills were quite lacking. Her pediatricians brushed it off saying that not all children excel at all areas and she may just be slower on her mobility than she was with everything else. Just give it time.

That was not a reasonable answer for me. I knew in my gut something was not right. I pushed and pushed until we were referred to a Podiatrist. We were told she had severe flat feet and floppy ankles. She would need to have her feet broken and reset in order to correct the problem. Yeah not happening, I ran as fast as I could back to home to research. Prior to being a stay at home mom to Fally, I worked in the medical field for nearly 14 years in Dermatology. I KNEW that just was not correct. I made an appointment with her Pediatrician again and explained no way on this earth was I allowing someone to break both of my 18 month old daughter's feet. I urged him to give us an Orthopedic Consult referral. Being an active duty military family, we are at the mercy of our great referral system to see any specialists. Luckily he obliged and off to Ortho we go. We were told Fal had ligamentous dyslaxity (fancy term for really loose and painful joints). She was sent to get AFOs (leg and ankle braces) to help support her ankles. Something in my gut just told me this wasn't correct. As her mother, this was not fitting all the pieces of the puzzle.

We got the new AFO's which opened up a whole host of new issues. She started walking with her feet turned in, her hips started clicking terribly when you held her. You could feel all of her joints when you touch them click and rub and make actual sounds. It was frightening. I honestly was constantly saying to myself Oh My God what is happening. Fal started complaining about having boo boo knees and asking for someone to rub her legs or her back. She started getting horrendous nose bleeds at night and bruising on her legs very easily and deeply.

We took her back to the Doctor's office and they cauterized her nose for bleeding, referred us back to the Orthopedic Surgeon at Children's Hospital where I asked if we could please see a Genetic Specialist. Through my months of research (My little girl at this point is now 2 years old), I kept stumbling upon a rare syndrome that fit her symptoms but also a whole slew of issues I HAD sporatically throughout my life. Something greater was going on here than just loose joints. Through a gamet of testing all of which my brave little girl, never cried or showed fear. At the most she would quietly say, OUCH. With Xrays and blood work, echocardiograms and all the things that run in between, we had an answer. Not one that we were prepared for in the slightest. We waited, held our breath and hoped to god everything was going to be ok..............It's not.