Now for the wait...

[Katie]

We picked up the check for Dillon's Saethre-Chotzen SYndrome testing the other day and had the blood drawn this morning (it was an absolute nightmare, but that's another story). It can take up to six weeks to get the results back. I think that either a positive or negative result is going to bring mixed emotions. A positive means we have an answer, and Dillon can know what his children may face. But it also means that there would be a 50% chance of any future children having it. Since it is a varying syndrome, it could be much milder than Dillon's, or much worse.
A negative will keep us wondering what it is he does have, and we can't afford any more testing, at least not for a while. With a 68% sensetivity rate, it woud also leave us wondering if it was a false negative.
Thanks for listening, I just needed to talk.

[verdon2]

:no I really don't know what to say... I wish you the best turnout for you all.:hugg We will be thinking of you!!!

[Jennifer]

Many, many :hugg 's to you! I also don't know what to say- either way has it's positives but also concerns :no

Big :hugg 's to you all!

[Andi]

Oh, Katie. :hugg I know what the wait is like -- and the anxiety of what the test results mean. I guess all I can say is that more information -- whatever it is -- is better than lack of information. Even if the result is negative, then you have learned something from it. Are you sure it's only a 68% sensitivity rate? With my test they said it was better odds than that, but I'm not sure what may make it different than other tests.

I hope Dillon has recovered from the lab experience... now is the time to do fun things so that the time passes quickly. :) Whatever the results are, I know you guys will be okay. You're an amazing family, it's inspiring to see your love for Dillon and the support you give to everyone who struggles with cranio.

[Katie]

Thank you all :adore :hugg

Andi, as of the last web page update for Johns Hopkins, it is only 68%, however, I don't know how long ago those details were posted. Thank you for the hug! :hugg

[KALEMSMOM]

Oh Katie. I hope you get the results you are looking for. Wow that is a long wait. I hope it passes by quickly.

[plukids]

((HUGS)) Katie! I hope time flies by and you receive the result you are hoping for! I'll keep you all in my prayers!

[joanna galang]

hi katie!
It feels like forever to wait so i guess you should just keep yourself busy...will include you in our prayers.

Joanna

[craniomommynbaby]

I know exactly what you are feeling right now. Since our testing for SCS came up negative, I have really wanted to pursue it further. Now that my sister is pregnant, it would be invaluable information for her as well. I am going to see if our family can pool some money to do this before the new baby comes at Thanksgiving. I think the next syndrome they will check is Crouzon's. In the meantime, I really wonder about the accuracy rate of our test. It went to the St. Francis Center for Genetic Testing, somewhere up north. Maybe I will poke around for a site.

[cheryl2]

I didn't realize how lucky I was that insurance just picked up the testing, no problem. Both me and Clara were positive for SCS. Katie, do you have any idea how often there are false positives? I wouldn't think it very likely since we both tested positive, and I'd bet just about anything my dad would test positive too.

We're still not 100% positive we will try for another child. I always wanted two. Like Katie said, it's a 50% chance of having another child with SCS, but that child could have much milder symptoms. Clara is the first child in our family to even have cranio.

Good luck, Katie!

[Katie]

I didn't realize how lucky I was that insurance just picked up the testing, no problem. Both me and Clara were positive for SCS. Katie, do you have any idea how often there are false positives?

We have an HMO so we have to stay in network for things to be covered. Unfortunately, there is no lab here in Michigan that tests for SCS and sending it out of state would be out of network. I wish there was a lab here, insurance would cover it 100%!

As far as false positives, I think that is extrememly rare. The false negatives are more common because the mutation can be difficult to detect (32% chance of missing it if I inderstand right).
Thanks for the good luck :hugg

[Andi]

Any word on the results yet, Katie? I guess there could still be a couple weeks of waiting, but I was just wondering.

I was doing some more research on PGD stuff, and I came across a web page for Johns Hopkins (can't find it now) that had the figure for accurately detecting SCS in its genetic tests (I recognized it from your quote ot 68% accuracy). I think the difference between JH's test and the one I had done at CHOP is that CHOP also could detect for deletions in the gene, while it appeared that JH could only test for mutations. Do you know if that's the case? I think this was why the genetic counselor was so confident that they would be able to find SCS in my genes, and it turned out they did have to find deletions in order to pin down the SCS in me!

I'm also realizing how lucky we are that insurance picked up the testing -- we have a really stingy HMO, but CHOP is in their network of providers, so they couldn't say no!

BTW, I'll be posting a major update sometime this week -- had an initial consult with the IVF clinic, and tomorrow is the visit with the surgeons at CHOP. It'll be decision-making time soon! :nervous

[Katie]

I haven't heard anything yet :pullhair I'm guessing it will be soon though. I thought it was a six week wait for some reason, but the web page says approximately 4 weeks.

I'll look forward to your update soon Andi :hugg