Six months ago, we were waiting for our scheduled c-section for our third child. We made it back to the OR and everything was similar to our previous two c-sections until 8:41 AM. I heard "Look at those cheeks!" from one of the nurses and then my worst fear.... SILENCE. I immediately knew something was wrong and started asking why she wasn't crying. She was in respiratory distress and was whisked off to the NICU. A nurse quietly came to tell me everything was going to be ok, but Hattie needed to be on oxygen and was exhibiting some "features" that they wanted to investigate. I was stunned. .
Hattie was thankfully on room air within an hour. The features the doctors wanted to look into were her scaly dry skin and shortened limb lengths. She was 8 lbs 15 oz and only 17 inches long. .
Our doctors completed a ton of tests, x-rays, and ultrasound scans and brought in specialists. After her opthamologist found congential cataracts and the genetics counselor consulted with the pediatric dermatologist, we got a call that Hattie was RARE to the tune of 1 in 400,000. She was diagnosed with chondrodysplasia punctata type 2 or Conradi Hunermann Syndrome which is an X-linked dominant genetic condition that affects primarily girls. The syndrome is categorized by skeletal malformations, skin abnormalities, cataracts, and short stature (we are only 2nd percentile for height).
Hattie has bilateral congenital cataracts, scoliosis, hip dysplasia, ichthyosis, long bone shortening in all limbs with asymmetrical shortening in the left femur, and cicatricial alopecia. We rock an eye patch for 3 hours a day to strengthen our weaker eye and a helmet to fix our flat noggin (plagiocephaly). Eventually we will have cataract and leg lengthening surgeries. Early intervention and outpatient OT/PT are already helping us meet milestones! .
Since Conradi varies widely, we don't have a clear picture of what our future may hold. We just know we are BLESSED to be some of the lucky few on this journey and couldn't imagine a day without our Holland tour guide leading the way! Thanks for reading Hattie's story! @ford.cora.hattie