Our Story ~ The misdiagnosis and diagnosis of Bicoronal Craniosynostosis

Lwas 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, Neurosurgeon Consult, and genetics were all arranged that day. 
On May 1st 2001 L underwent a eight hour surgery where a neurosurgeon cut apart her skull and delicately removed it while avoiding any trauma to the brain or the dura surrounding it. He then handed her care over to a craniofacial surgeon who cut and sculpted bone to not only give her rapidly growing brain room to grow but also attempt to reshape her little noggin to more closely resemble a baby not born with craniosynostosis. Her forehead was reshaped and eye orbits that were once too shallow were rebuilt to protect precious eyes. I was a nervous wreck waiting for the hourly calls from the nurse updating us on how the surgery was progressing, it was honestly on of the hardest days I have every had to endure. After surgeons completed their reconstruction L spent 24 hours in Pediatric Intensive Care, and 4 days in the hospital. When bandages were removed just a few hours after surgery ....I was a mess. The lack of sleep, emotions of the whole experience, and lack of knowledge of what I was seeing crashed down on me like a tidal wave. To say the least, I freaked out, I had a major meltdown, and ran from the room in hysterics, all I could think was
"Oh my God what have I done to my beautiful baby?!"
A perfect, although misshaped head was replaced by an angry incision running from one ear to the other, bandages had compressed against her skull that was already starting to swell so every groove, every screw, every wire and plate shown through her thin skin. A drain tube that ran from ear to ear was at first mistaken to be a plate in her head. L looked ruined to me, I felt like Dr. Frankenstein gazing upon a monster. It was not the proudest moment of my life as I sobbed in the waiting room telling my mom that the surgeons had ruined her. Luckily my mom was able to snap me out of it...she drug me back to the PICU room to realize that L looked a little better than okay. A nice round head was in place of her once flat and towering head and she now had a forehead and eye brows which made her eyes look like they laid flat and normal in her face instead of extended and popped out. Once I calmed down I was able to see the miracle that surgeons had performed in just 8 hours. Post-Op had its extreme ups and downs as she quickly began to heal and turn around.  L needed her 4th transfusion in the middle of the first night but was weaned off morphine and onto tylenol on day two. We were transferred out of PICU & her swelling peaked at 48 hours barley leaving her one eye to peak through and see. On day two she was sitting up and playing although she was sleeping more than usual to. I was amazed minute to minute & hour to hour that this little ten month old had even undergone a major surgery such a short time ago. Kids are that way they don't know to feel sorry for themselves, they overcome the challenge, smile through the pain and cuddle up for mommy to make everything feel better. My daughter was then and is now my Hero. 
Nine years ago Craniosynostosis revealed itself to us and seated itself in our lives. Some days its the little mouse squeaking in the background but most days its the large elephant in the room. For us Craniosynostosis is always in our lives.
L faces a second reconstruction on her skull due to the lack of growth in the orbits around her eyes, she's suffering daily headaches which cause concern of pressure on her brain, and her skull has reverted to its presurgical shape. Although 80% of the total brain and skull growth is complete by the age of two years old many more growth spurts occur through childhood and into adulthood. L's skull started growing back into its presurgical shape around the age of 8 and has increasingly gotten worse as she's grown the last year and a half. With the skull back to its presurgical shape the brain is again in danger of pressure and damage due to restriction of growth during key growth spurts in puberty and beyond. We waited a year through her last growth spurt to hopefully avoid the need for a third surgery as her Craniofacial Surgeon(CFS) warned a growth spurt could undo everything he corrected.
We will need to travel to Dallas TX at the end of this May to have L's surgery performed with one of the country's leading craniofacial surgeons, Dr. Fearon. It is a 650 mile trip one way for us here in Omaha NE. L's care was previously with another CFS closer to home but he ignored our concerns and dismissed the need for an MRI despite knowledge that craniosynostosis can cause Chiari Malformation and other conditions that greatly affect the brain and growth. Our second opinion with Dr. Staffenberg in New York and our third with Dr. Fearon were taken seriously and the need for concern was very evident. We would not trust the care of L to any other surgeon, Dr. Fearon's experience in older children with severe craniofacial conditions is astronomical. Also with L's first surgery her blood loss was so extensive that she required 4 blood transfusions. Dr. Fearon uses cell recycling to help control blood loss and make the surgery less traumatic on her system. Lastly L has several plates, screws, and wires used left over that could cause more harm in the long run then help. Dr. Fearon is an expert at remodeling skulls without the need for invasive and artificial materials. We truely want L in the right surgical hands to avoid the need for any further complications or surgeries.
We Thank you for following this blog and sharing it with others. We feel we have a lot to teach through our experiances as well as the things that have been learned from a 'family' in the craniofacial world. This Site teaches about Craniosynostosis and our personal story but our other site BeyondAGlimpse teaches about many craniofacial conditons. We thank you for checking out the link and sharing with as many friends and family as you can.