genetic testing?

[jenniferh]

:howdyHave any of you had genetic testing done? Our surgeon has scheduled us an appointment for genetic testing. I'm wondering what it entails (sp?) and what are the benefits of having this done? Any thoughts? :shrug

[littlemamjo]

One of the reasons is to see if she might have a syndrome. Also Dr. Fearon is doing a study on Craniosynostosis, and trying to learn as much as he can about the condition. This will also let you know if it is genetic, meaning, she could pass it to her children, or children you might have in the future. My husband and I learned alot from our appointment, and look forward to getting the answers back

[craniomommynbaby]

For our appointment, they went through a detailed family medical history survey and then drew blood to send off to a lab. They only looked for the TWIST mutation (Saethre-Chotzen Syndrome) as I could not afford more at the time. That came back negative. Next, we will look to see if maybe it is Crouzon's. It just costs money for each thing they search. I am putting it off as I am not looking forward to drawing blood from an extremely large and strong toddler.

[jenniferh]

Thanks Cindy and Adrian. Adrian, You probably went to the same place Dr. Sheurle? Did you have to pay for each seperate test that was run, or was it just your co-pay. I talked to their office yesterday and they do accept our insurance, so that's a good thing, maybe that will cut down the cost?

[Katie]

Ou rfirst appointment was just like Cindy's, except we didn't have the blood drawn right away. Most likeley the Dr. will give a prelimanary diagnosis based on features and family history, or they will tell you that they don't feel it is syndromatic craniosynostosis. If the Dr. does feel it is syndromatic, he/she will tell you which syndrome they feel it may be, and you will have the option of blood work to try to confirm diagnosis. Insurance with the blood work itself it tricky, it depends on your benefits and weather or not a local lab performs that particular test. In our case, the blood had to be shipped out of state to Johns Hopkins, so insurance wouldn't cover it since it was out of netowork. Had there been a lab here in Michigan, it would have been covered. The test for SCS was close to $700 at JHU, and that was only one type of test (there are several to check for SCS) with a 60% detection rate.

The office visit itself will most likely only have a co-pay and can answer a lot of quesitons. Plan on being there for at least 1.5 hours, and try to remember anything in both you and daddies family history weather it's cranio realted or not. Good luck, let us know how it goes :hugg

[littlemamjo]

Jenniferh,
Yeah, that is who we saw. She seems very nice, and was able to give my husband and I alot of answers. We are supposed to go back and see her in six months, but if her pain doesn't let up then we will see her sooner. What NS are you using?

[jenniferh]

Katie,
You answered a lot of my questions. Thanks so much. I can't believe $700 for one test. Crazy!

Adrian,
Your daughter is still having pain? Is it related to the surgery? What did they say when you called the surgeon? We are using Dr. Sacco. Is that who you used? I'm so glad that I have gotten in contact with someone using the same facility. Thanks for all your help

[cheryl2]

Hello, we found the genetics visit very informative. Plus our insurance paid for the blood test for both Clara and me.

[Jacksmum3]

We have had all the genetic tests done, without no worry of payment. I still don't know how you guys cope with all that insurance stuff.
I find it bad enough claiming on my house insurance let alone health insurance.
The only things we pay for in England are opticians and dentists.
Good luck with the tests, and hope evrything is fine.
Tc Annmarie x

[littlemamjo]

Good luck today with the appointments!!! you will do great. I pray that God will be with you as you go to your appts today, and the surgery tomorrow. To answer your question, yes she is still in pain, but they do not believe it is surgery related. Please don't allow her situation to worry you. She has had many other problems aside from the craniosynostosis. She is being tested for syndrome.
Dr. Fearon and his team are wonderful, and I trust that they will take great care of you, and your precious little girl. If I had it to do all over again I would do it the same. Hang in there, and good luck.

[jenniferh]

Thanks Adrian for your thoughts! I'll keep you all updated.

[mommysbudbud]

My son has been through genetic testing 4 times. At one lab his blood was tested for Crouzon Syndrome that was negative. His blood was then tested for Pfeiffers Syndrome and that too was negative.
So his blood was sent to a different lab and tested again for both syndromes. Negative.

I can't remember the numbers off hand but I believe it is something like in 65% of the cases of Pfeiffer Syndrome are detectable and 50% of Crouzons are detectable. Just because something comes back negative doesn't mean you don't have it.

My son's syndrome is from a gene mutation. We just now say he has Crouzons-Pfeiffer Syndrome since no one knows for sure what he has. He has the appearance of a child with Crouzons but his skull was such a mess and had characteristics of Pfeiffers.

Best wishes on your testings.
Thank goodness our insurance covered the testings 100%
Dawn

[mayashekhina]

:shocked I cant believe the prices of some of these tests!!, we had the twins blood screened at birth, because its covered by the public health system over here it was kinda something we had to do -the hospital wanted to know what they were handling especially as far as Beth was concerned. They apparently dont have every test available over here though I know a lady with Noonans syndrome who has a daughter with the same they got diagnosed just by the doctor looking at them as to get them tested would cost something like 6000 dollars as the testing of the blood would have to occur over in europe or something.

[amommy22]

Trey already has a genetic condition, so we have been seeing a genetic ped. since he was a few weeks old. He said there is no corilation in treys metopic cranio to his genetics. He is however ordering a chromosonal test to see if that shows anything, but he feels that it will probably be a dead end. When the results come back we will know for sure ... Hope all your genetic testing goes well!

[mayashekhina]

Genetic testing is great for giving an underlying reason for the problems presenting, but at the end of the day because so little is known about alot of chromosomal conditions the parents end up being their childs expert anyway.