Genetic testing results... sort of.

[Andi]

Hi, everyone,

I finally heard back from the genetics clinic yesterday regarding my test results for Saethre-Chotzen syndrome. It’s really fascinating and not quite what we were expecting, so forgive the length but I thought you’d be interested.

As you may know, S-C can be genetically manifested in either a mutation or a deletion in the TWIST gene. At first they did not find a mutation in my sample so they did more tests and discovered that I have a deletion. The thing is (and I read this in some journal articles as well, so I knew immediately why they were freaked out about this) a deletion usually (90% of the time) means that the person has mental retardation or other cognitive issues. But that’s not the case, and they were perplexed by this result in their labwork. So after doing some research in the literature, they think that it may be that my deletion is a small one, and that it’s the larger deletions that overlap into nearby genes that may lead to mental retardation. I asked the genetic counselor if deletions can change or grow/shrink over generations, and she said no – that it should stay true through each generation. So it doesn’t seem that there would be a risk of MR from my deletion for our kids or subsequent generations, given that it’s not present in me or in any members of my family with S-C.

As far as baby-making goes, the kind of test that they did to find this deletion cannot be done in PGD. So they want to try another test (FISH), through another lab in Spokane, WA, to see if the deletion can be detected that way. If so, they could theoretically help set up a lab closer to us to do the PGD if we chose to go that route. If they can’t find the deletion with FISH, then PGD may not be an option after all, although the entire clinic is still brainstorming other possibilities. The good news is that the FISH test will only take 1-2 weeks to run, once they get the sample (and right now I’m working on referrals to keep the insurance company and the genetics clinic happy so it’s all done right). This first round of testing took 4 weeks to run, so this wait won’t be as long a wait.

Once these results are in, we will be speaking with plastic surgeons at the hospital experienced in cranio surgery in kids who will look over family photos to discuss what kinds of techniques they would use today to treat the kinds of cranio seen in my family thus far. We also will be talking with the OB-GYN who specializes in genetics regarding the PGD (if we can do it) and other prenatal testing options. It all seems like a lot of information, but I am glad to have it, as overwhelming as it is sometimes.

So there’s the follow-up. I’ll keep you all posted as things keep progressing… thanks for the support!

Andi

[Katie]

Hi Andi, it's good to hear from you!
I'm glad that you were able to get some answers, and hope that you are able to do the PGD. Are you having the testing done at Johns Hopkins by chance? We're waiting on some funding to be approved (hopefully) to pay for Dillon's testing, and that's where they are going to send his sample. Also, do you know if they are they able to check for both the mutation and deletion if need be with one sample?

Keep us updated Andi!

[Andi]

Hi, Katie,

No, the first round of testing was done at Children's in Philadelphia; this second test will be done by a lab in Spokane, Washington. They did check for the mutation first at CHOP, and when things came back normal (which naturally confounded them) they did a Southern Blot test and found the deletion -- so they did two tests with the same sample, which answers your question. It seems CHOP can't do the FISH test for a S-C deletion, hence why they are sending it out to this lab in WA.

I will definitely keep you posted! It's fascinating stuff, isn't it? So weird to look at my own body and think, "Gee, there's a microscopic part of my DNA that's just gone, in every single cell of me! And all in the same spot!" Amazing, isn't it?

[KALEMSMOM]

Wow, Andi that is pretty amazing stuff. I've been reading your story and I am glad to see you are finding answers. Please keep us updated whenever you can.

[Andi]

Whoohoo!!

My PCP did the referral for the new test without any problems! And I've scheduled the labwork for tomorrow. The nurses at the lab were very surprised, my HMO is usually not keen on using an out-of-network lab, but it's all good to go.

::happy insurance dance::

[Katie]

That is awesome Andi! Please continue to keep us posted!

[KALEMSMOM]

That is amazing news, congrats!!! Can't wait to hear the update.

[verdon2]

:icon_mrgr Good luck in your research, and I hope whatever you find is always good news....

[Andi]

Okay, folks, here we are: Genetic Results II: Revenge of the FISH....

So ... yes! They did find my deletion in the TWIST gene using FISH. So this technically means that PGD could be done for my S-C syndrome. Now it's a matter of seeing if it can practically happen, our genetic counselor is trying to get in touch with an IVF clinic to see if they are willing to do it for this syndrome. (Apparently the IVF genetics people at this hospital, who were the first choice for this by our genetics clinic, can't do PGD yet.)

In the meantime, we have an evaluation appointment scheduled for May 2 with the plastic surgeons at CHOP to get their opinion on how they'd treat the craniofacial stuff that's shown up in my family thus far -- therefore helping us get an idea of what would likely happen if I had a child with S-C. It's all at the information-gathering stage right now, weighing the risks and benefits of each option to see what is right for us. So far, all the doors are still open. Whew.

Thanks for your support and interest -- I think this is going to be a long road. Hard to be patient.

[Katie]

Sorry I'm so late in replying Andi. It sound slike you all are on the right track! Please keep us updated on how everything is going!