L 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 endeed 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 bu 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 peditrician 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. 

Nine 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. L 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 L 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 as we deal with the big elephant again and prepare for L's secondary surgery sometime around the age of eleven this website will bring more help to those searching for answers and support.

More Information

Craniosynostosis (Crane -- ee--oh--sin--oh---stow--sis).

Is a condition that affects one in 2000.

Like you, we hadn't heard of it, nor had we heard of the over 200 syndromes that are associated with craniosynostosis. In this website not only will you  learn about Craniosynostosis but you will also learn about several other conditions the affect the skull and face. Some of these conditions have lifelong affects for those born with or who develop them. Others are fortunate enough to have one treatment and live an otherwise normal life. However, all families touched by a craniofacial abnormality will be forever changed.

Each of us are enlightened to a new way of seeing things. All of us are a little more propitious in our lives, and that is a true gift.

Thank you for stopping by and I hope you will continue on through this website to learn and grow as many of us have through our experiences.

Further Questions?

Don't hesitate to email me with your questions or comments. Please see our Contact Us page for complete contact information.

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Thank You:  

My daughter's original surgery was done at the age of ten months old at Children's Mercy Hospital in Kansas City, Missouri. I will always be grateful for the great care taken by her first Craniofacial Surgeon, Dr. Jeff Colyer and the Children's Mercy staff. I also have to say a great big THANK YOU to L's current craniofacial surgeon, Dr. Jeffery Fearon, of The Craniofacial Center at Medical City, Dallas TX. We are confident that the switch to his team was the best decision we could have ever made for our daughter. 

Dr. Fearon, will always answer questions from concerned parents and will openly and honestly give you his expert opinion. You may email him if you are in desperate need of an qualified opinion.  

Contact Us

I couldn't have made it through some of the scariest times in my life without the support and backing of many online communities. Make sure to check out our Support Page for a list of communities and organizations that will help those facing craniofacial abnormalities. All are non-for profit so remember to give if at all possible.

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