Ella – Crouzons/Phiefer Syndrome


This is my daughter Ella who is now 2 1/2 years old. When she was 4 mo old, we noticed a “knot” towards the back of her head. Of course I immediately took her to the pediatrician, at that time was told it was nothing to worry about her skull is still growing, will check it again at her 1 yr well check.

In Dec. 2012 at her 1 yr visit the Dr seemed more concerned now since Ella’s shape of her face was a little off (her right cheek was slightly higher and her right ear slightly lower.) We were sent to the children s hospital to a genetic specialist. During that visit the Dr. did not seem concerned at all and made the remarks such as “I can tell by looking at her, she does not have cranio, nor is it necessary to do any genetic testings since it costs thousands of dollars.” I became very upset, which he knew so then he said “well if it makes you feel better I can do a CT just to confirm that.”

We had a CT done on 1/28/2013, and were notified the following day the results were negative with no findings at all of cranio and to follow-up in a year.

My pediatrician was not happy with the results, nor was I. We were sent to a different children’s hospital (optomology dept.) for Ella having eye problems (since 2 mo). We thought she had a blocked tear duck and would out grow it, but it was not improving. During that visit, Ella was scheduled for eye surgery to unblock the tear ducks.

On 7/6/2013, Ella went in for minor eye surgery which turned out to be a nightmare! The surgeon ended up calling in for backup to help with the procedure. At that time the team of doctors determined something was wrong with her structure. As all of her passage ways, including her eyes were so narrow they had to do a more in depth procedure.
The optometrist suggested I call back to the previous genetic doctor and explain what just happened in surgery, to see if he would order a blood test.
I contacted the genetic doctor and he refused to do anything further as he stated the CT was normal! I then went back for a followup from her eye surgery and they took the extra steps in contacting the genetic doctor at their facility to see if he could help in anyway. I was so relieved when I received a call back that he would fax in the order to my local hospital for a blood test. I got the results in November that Ella tested positive for CROUZONS/PHIEFER SYNDROME. We were told to followup with the Crainofacial Clinic for a team visit but the first opening was 4/29/14. In the meantime we were asked to get a hearing test, which we did in Feb. and she failed it both times. She also had another eye surgery 12/3/13.

On 4/29/14 we met with several Dr’s and were told she only had the genes from Crouzons and would need to have tubes put in, adenoids removed and a MRI of her skull all done ASAP, she was scheduled for surgery 5/2/14. It went well but we he could not remove all her adenoids, she has 2 nodules on her vocal cords, a sub muscle cleft in the back. I got a call from the neurologist doctor that he would like to do a 3D-CT since the MRI was skeptical.

We went to meet with the neurologist for the results and at that time found out ALL of her sutures had closed way too early, her brain was restricted 100%, she was leaking spinal fluid and surgery was needed ASAP. Of course I had a major meltdown until I could process it all, the Dr & his staff were so comforting. He wasn’t sure at that time what surgery was needed since all of them were closed. I received a call from the main cranio surgeon they were going to do a CVR moving back to front on 6/30/14 and would take between 5-7 hours. Also, after comparing the CT scan from 1/2013 to present, they were INCORRECT. She actually had 2 sutures closed at that time that were “overlooked”.

The day had arrived and 5 hours later she was out of surgery…*BIG SIGH* She did extremely well! Even after our weekly trips to the hospital for follow ups and ct scans, she has been a little trooper through all of this and would never know anything was wrong. We are scheduled to go back in for surgery on Nov. 10, 2014 to have the devices removed.