My daughter has Saethre-Chotzen...

[twinmom]

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.

[cheryl2]

Hi Tina, Both my daughter and I have Saethre Chotzen as well. Neither of us have heart issues and no doctor has ever suggested we need to have our hearts checked. I think that's a rare symptom of SCS. We are both deaf in our left ear and have eye issues.

As for risk of a second surgery due to re-fusion of the sutures, I never heard of that being more of a risk for those with SCS than any one else. It's pretty rare. Clara did need to surgeries, but not everyone does. The second surgery was much less invasive than the first.

A big feature for those with SCS is ptosis, or droopy eyelids. Clara and I both had this and both of us had surgery for it. We also have strabismus, or wandering eye, I think they may call it a squint in the UK so you may be familiar with that term.

SCS varies so much with each person. I didn't even have cranio. I was only diagnosed with SCS after we learned Clara had it.

I don't really think it's a big deal that we have a syndrome. It doesn't change what we would do for Clara. I would get her eyes and ears checked out. Even a mild hearing loss can cause language delays, and it can be hard to tell what a baby sees. We had her hearing screened as a newborn since I have my hearing loss, and the ptosis we could also see from birth. Strabismus can usually be diagnosed by 6 months I think.

I will be happy to answer any other questions you have. I'm in a rush so I hope I'm making sense :-)

Take care!

[*jules*]

Hi Tina. Unfortunately I have no info or adivce for you. I just wanted to say I'll be praying for you and your little one.

[twinmom]

Thank you so much for both your answers.

I do know that SCS is nothing fatal or so.... I was just like getting an ice cold bucket of water in the head. I never expected her to be symdromatic.

Now we are looking forward to my and Peters gene test. They have me under suspicion for SCS, the test will show whether or not we are affected. None of us have cranio or other symptoms that are associated with SCS.

Unfortunately the danish healthcare system is not treating us well, we have asked for an interview with the NS, but they cannot schedule us before may. I feel sad, because I just want to hear what they say... I would like to know what the think the unknown genemutation is going to do.!

[Katie]

Welcome!

it's believed that SCS is what Dillon has. As Cheryl said, there isn't a greater risk for refusion than any other cranio, generally under 10% chance if I remember right.
We didn't think Dillon had ear problems at first, but he was very speech delayed and it turned out he had a mild hearing loss. He has a moderate astigmatism in his right eye and has had surgical repair to the eye muscle.
He had his first reconstruction at 4.5 months old, and is scheduled for his second on May 12th. He will be getting another full reconstruction, but often times the surgeries following the first aren't usually as invasive.
Overall, Dillon is doing great and will go on to lead a perfectly functiong, normal life.
there's never been any mention of hear tconcerns here either.
Do you know which test they did exactly? There's several that can be used for SCS and the one Dillon had doesn't have a great detection rate.

[Katie]

I forgot to add, D does have astmmeyry. His Drs have said it's due to the rate one coronal fused over the other.

[Maddy's Mom]

Hi, Tina!
Maddy was diagnosed with SCS last year. Her multi-suture cranio (diagnosed early during my pregnancy) caused severe malformation of her skull that would lead to ICP and other difficulities, so that is why she has had so many surgeries. In her case, the timing has been mostly about the maleability of the skull bones which changes as they get older.

As far as her SCS symptoms, she has droopy eyelids, broad big toes, small narrow ear canal, high pallet. She also has hydrocephalus which may or may not be related. We saw a cardiologist who said her heart looked fine. She's had 2 inconclusive audiology exams, but talks all day long and definitely hears (just not sure how well). Her opthalmologist says her sight is fine and doesn't see a reason to address her eyelids surgically at this point. She's a little slow to walk and took her time eating solid foods, but we've been told that each surgery sets them back for a bit and she's making progress so not too concerned at this point. We do not expect any mental delays. In general, aside from her cranio, we aren't doing anything different for her because of SCS.

Hope that helps! Definitely keep me posted as I am always looking for more info on SCS as well. Lots of luck to you!