Genetisist called today

[carrielulu]

The genetisist called today. She said everything came back normal and there was no evidence of any gene mutations!

She never said anything like "...but, it could be wrong or it could still be something that just didnt show up...etc etc"

Which leads me to believe that these genetic testing results are quite accurate?

Ive always thought Hayleighs cranio was caused by abnormal in-utero positioning. Even before craniosynotosis was suspected and I was in labour my doctor said that she had just noticed that her head was in a 'funny' position, etc etc.

But then I keep reading that multiple craniosynotosis is always a syndrome!? But if this is the case y would the genetisist say shes normal? Im confused.....

Or is it just safe to say that although there are 150 associated syndromes with craniosynotosis, the cause of this birth defect is ultimately unknown.??? Syndrome or non-syndrome?

[mommysbudbud]

I am in the same boat as you. My son was tested 4 times. His geneticist though, felt for sure that he has a syndrome and he was persistent. Hoping he would find the mutation. I know I get these numbers messed up but in something like 50% of the cases with Crouzons, the mutation is not detectable and 65% of the cases of Pfeiffers, the mutation is not detectable. I could have that backwards.
Anyways, they HAVE to be checking for one syndrome. They can't say, oh we will test her and see if she has a syndrome', because they have to know where to look. We have millions of genes and it would take years for them to go in and look for a mutation. My husband and I wanted to get tested but were told that it would be worthless because they wouldn't know where to look for the mutation.
I have never found anything anywhere saying that multi cranio is not a syndrome. If I could find one simple article...I would carry it with me to every doctors appt and show them. I would hold out for hope that my son doesn't have a syndrome.
You are just going to have to wait and see how she develops. See if she goes through some of the characteristics of these kids with these syndromes. If she does have something, she may have a 50% chance of passing it on to her children.
On Tuesday, my son has an appt to see his cranio team. I am going to ask again if it is possible to have multi cranio and it not be a syndrome. We have an incredible team, doctors come from all over the world to study under our head doctor and people come from all over to have surgery done by this doctor.
I was sent a picture of a little boy, he was 3 yrs old. He has Crouzon Syndrome, never had a surgery...never needed one. So uncommon. He looks nothing like a child with a syndrome. I can't for the life of me figure out how the doctors even thought to test him for it.
I know this is all a bit much for you. Enjoy her and forget as much about this as you can. Today will be gone and you can't get it back.

[mommysbudbud]

You know what I find interesting. Their are quite a few children on here with multi cranio who have been told that it is not or may not be a syndrome.
It gets you to really start to think about these things. The literature says multiple cranio is a syndome. But doctors say otherwise.

If anyone read this, who has Dr. Fearon as a doctor....can you please ask him to maybe clarify or clear this up. I think it would set a lot of parents at ease.

I am sure many of us have been through this, looking up multiple cranio and coming across article after article stating that multiple cranio is a syndrome. If in fact their is a small percentage of multiple cranio that is NOT a syndrome....then we need to get an article out there stating that.

Having that label 'syndrome' really is messing up a lot for us. We have come to grips with our son having a syndrome. BUT if he doesn't, then so much would change for us. With the label 'syndrome', my husband can't switch healthcare providers because our son is considered uninsurable. We currently have him covered under my husband's healthcare plan (he was born after we started the plan). But if we cancel our insurance and go with a different provider. No provider would take our son because of a preexisting condition (syndrome). We would have to get Medi-cal for him.

Well I think we should all try and figure this out. Is it possible for a child/baby to have multiple cranio and it not be a craniofacial syndrome!? If so, lets see the proof and pass it on to others.

[carrielulu]

Wow you are in quite the predicament arent you!

Yes this is very strange!!! Who's to know , and if they can never find a syndrome who's to say they even have one??Usually docs rely on the logistics of things , if therers no proof of something how can they even diagnose "syndrome"??

I feel really bad for you that your fasmily is suferring the consequences of something that might not even exist!!

Im going to look in to this more....

[carrielulu]

mommysbudbud: I just saw this post you made :

my son was head down for a very long time. I went into preterm labor at 25 weeks and he was head down then. Stayed deep in my pelvis until delivery at the end of my 32nd week.

this is exactly what my doc was saying - dropped down in to the pelvis too early and was stuck there - is this coincidence?? i think not. btw she said this before she was born, before there was any speculation of craniosynotosis.

ALSO, I remember asking the genetisist if this could have been the cause of her multiple suture craniosynotosis (baby being in the pelvic area to soon and too soon before birth) and he said quote:

Yes it is possible, but absence of a family history does not necessarily rule out an inherited disorder.

Those were his exact words (i have the email!)

[Holly]

This is very interesting. both my boys were head down for awhile and both came out face up instead of face down. Both sagittal.Both over 9 lbs. My midwife told me maybe thats the way my pelvic is shaped. But the doctors and geneticts say that its not caused by birth or how they were positioned. Jakob had sagittal and metopic but no syndromes. Maybe hopfully one of our cranio babies will grow up and figure this all out and become a millionare.

[mayashekhina]

Genetics is a very fascinating field of study, my daughter has a deletion of part of her 2nd chromosome which is responsible for all of her health difficulties so I have had alot of exposure to professional opinions in regards to diagnosis- they are able to label so many conditions from the very mild to ultra severe but in as much as there are names for so many disorders and chromosomal arrays and they are able to identify so many things -so much still goes undiagnosed and parents are always left wandering was it this or was it that. For some a diagnosis would only bring confusion anyway for the most part their child remains -besides one or two problems -unsymptomatic hopefully this is the case for you. I have met others though where their child is a medical first, or no one can figure out the cause of the childs numerous problems and this prevents these families from accessing much needed support groups - my child fortunately falls under quite a few banners but our real support is with other chromosome deletion children and families because though the children have different labels many of them confront similar issues and it helps to arm yourself with knowledge when dealing with medical professionals. My daughters condition is rare there is only 1 other in my state and a couple of others in our country and it has no name just a number to identify it but we are fortunate because though we do meet with discrimination we also have a vast family of support to draw upon including this group. I guess what I am trying to say is when nothing is found everyone is left to speculate but tread cautiously because doctors dont run these types of expensive testing for no reason it usually means there was enough there to cause concern -so if your child is greatly delayed in reaching their milestones such as crawling, sitting walking etc be wary because our daughters cardiologists opinion is that all congenital defects point to a genetic glich whether detected or not. I do not mean to worry you I just wish to share this as it is important to know.

[Elizabeth]

Our geneticist said that in 65-70% of genetics cases (cranio or otherwise) you know there is something wrong but genetic testing can't figure out what it is. I know that doesn't help any of us, but that's what he said.

Isaac was head down at least from week 18 to 38, when he was delivered. His head was to the right side of my body...he never moved his head, just wiggled the rest of his body. I think that is odd, too. If I remember right, we had a thread where we discussed position a couple months ago as well. Anyway, Isaac was 8 lbs 14 oz two weeks early...dr predicted he would have been over 11 pounds had they let him go.