A few weeks ago, we got the test result of Victorias genetest and she has Saethre-Chotzen... and that really hurt me on her behalf. We had expectet the test to come out negative, and had therefore nevet thought that the she could have a syndrome.
Unfortunately, there is as good as no material available in Danish, and some of the english/american articles can be pretty hard to read, when english is not your native language.
I have some questions and was hoping that someone here might be able to answer.
I have read, that some kids with SCS has a congenital heart defect. But the article didn't mention how many. Victoria has already been operated for her cranio (bi-coronal). They haven't scanned her heart yet and the doctor doesn't seem to think it is necessary, as they have lisened to her before the operation. What do you guys think. I just need peace in my heart.
We have also been refered to an eye and ear doctor to have her checked, we dont think that she is deaf or have poor sight (how did you find out about the hearing and sight. Did you have any suspicions before they were diagnosed.
Victoria is also assymetric in the face, did your children also have this, and was it corrected later on?
Do you know what the risk is of a second cranio surgery, is it rare that the sutures are fused again and needs surgery?
Unfortunately, we received the test result via telefone, and we cannot get an appointment at the neurologist before may 5th, and the pediatrician is not before may 28th.
I hope to hear from someone, I feel so alone with this diagnosis.