Leigha was not born the little girl I had envisioned in my dreams. The elation that I felt upon the announcement “It’s A Girl” was quickly overshadowed. I was robbed of normal motherhood delights by our family practitioner puzzling over her looks, and I was confused by a quick explanation that her features resembled those of children born with Down Syndrome.

The same thoughts kept running around in my head “Down Syndrome, that couldn’t be right. We tested in pregnancy for the genetic mutation, besides I was only twenty-three, babies weren’t born to mother’s as young as me with Down Syndrome, right? ” The family practitioner puzzled over what was sighted as, “dysmorphic features”, which included low set ears, a flattened forehead, eyes that were downturned at the corners, and a slight ridging above each ear.

Although she was beautiful to me, a consultation with a pediatrician did little to halt my fears, her remarks were, “features uncertain”, “most likely not Downs”, “perhaps only post-delivery swelling”. To hear some doubt in the words did not ease my mind when she said she was certain my daughter would begin to round out more normally in a few weeks. So we took home my beautiful, fuzzy haired, baby girl to be met with one pediatrician after another giving us dubious advice at each well-baby checkup. . Although, I couldn’t place my finger on the issue each day was spent worrying about all the what-if’s instead of focusing on my quickly growing baby girl.

I kept finding myself fearing the initial concern of Down Syndrome, I didn’t know if my daughter was indeed one in 800 born with 47 chromosomes instead of 46 or not. I looked on the National Association for Down Syndrome website many times as I fretted over my daughter’s looks. I didn’t believe she resembled a baby with Down syndrome but I just knew something wasn’t right with my daughter. As my daughter turned 6 months old each concern I verbalized was disregarded by one pediatrician after another. Fed up with doctors who treated me as I was an over-protective and fretting shrew of bothersome mother I finally, after fighting my family practitioner for a referral, consulted with a Craniofacial surgeon.

One glance at my daughter, one feel of her non-existent fontanel, after a staggering seven pediatricians had been consulted on her head shape a specialist finally diagnosed my daughter with Craniosynostosis. My daughter was not one in 800 after all. She was in fact one in 2000. Surgery, CT scans, Nuerosurgeon Consult, and genetics were all arranged that day.

Leigha had a CVR with FOA at the age of 10 months old and followed up with her team in Missouri every 2 years until the age of 8. At 8 we began to notice Leigha’s head elongating and her brow and eyes becoming more misshaped. Leigha began looking more and more brachycephalic as each month passed. We put a call into her original surgeon and had our concerns dismissed and made the heart wrenching decision to leave the team she had seen since an infant and sought out the opinion of both Dr. Staffenberg in NY and Dr. Fearon in Dallas. After several email correspondences it was determined Leigha’s craniosynostosis had indeed regressed.

Twelve years ago Craniosynostosis revealed itself to us and seated itself in our lives. Some days its the large elephant in the room, others its the little mouse squeaking in the background. For us Craniosynostosis is always in our lives. Leigha has Muenke’s Syndrome which at first brought on the post-op fears of her midface not growing correctly, concerns on how teeth would grow, the possibility of learning delays, the always persistent concern of second, third, or more surgeries, and lastly the possibility of Leigha and her older brother having children with craniosynostosis due to the 50/50 chance of passing on whichever flawed gene she has.

I am passionate about awareness and understanding for craniosynostosis as well as all cranial and facial abnormalities. I hope that sharing our story and telling you that Leigha had a 2nd CVR and FOA at 11 yrs old due to her craniosynostosis regressing to its preop shape as well as the need to remove unnecessary plates and screws still existing from the first op will bring more help to those searching for answers and support, I also hope our story of always seeking answers and not settling for “experts” opinions when this mother’s gut said otherwise will encourage parents to always fight for their child and to know that when it comes to craniofacial abnormality knowledge is power.