Has anyone had experience with the syndrome Aperts? Its similar to Crouzon Syndrome and Pfeiffer Syndrome.

We had one stillborn child with Aperts and 2 previous miscarriages which may or may not be related to Aperts since we were not offered testing after the D&C's, we will never know.

We are now thinking about PDG to test for Aperts and maybe other genetic abnormalities and would like to hear other stories related. Thanks.

i have no personla experience with aperts but wanted to say that pgd sounds like a perfect option for you to avoid futher heartbreak due to the syndrome.
i will try to see if i can find some online support groups that i can refer you to for people who have had children affected with this syndrome.
i wishyou the best of luck in your upcoming journey

Thanks for your help and kind words, I'd appreciate you looking for support groups for me, that would help allot.

It looks as thought this syndrome is quite rare seeing as I've had no replies on the subject, but it's definitely helped to read the stories in this forum regarding PDG, its one of the few forums that discuss this subject. So thank you all anyway :)

If anyone else has any stories relating to PDG, wether successful or not, that you care to re-tell, in case I haven't already read them, that would be great...

I have no knowledge of Aperts - sorry. However I have had two m/c's and I not the doctor requested genetic testing of my fetal tissue both times (they acted like I was a ghoul for wanting to know) -kereotyping (sp?). They don't care- you will have to force the issue with your doctor if it ever comes up again. Don't be afraid to ask for it. It brought us great peace of mind the first time I m/c (a trisomy 9- incredably rare)and the hospital failed to read the order and didn't di it the second time so I will never know. I could rant forever about this issue. Good luck. I hope you find some answers to your questions. Is there no support group out there for the syndrome that can help you?

Have you and your DH had genetic testing on yourselves. We finally did and found we were normal. It helped, but it didn't answer the great question why we are m/cing each time.

Good luck.

Abilene

When we had the 1st two miscarriages, my Ob. didn't recommend or suggest we have any left over matter tested. She said it was mother natures way and probably meant the fetus was unhealthy and the chances of it happening again where very slim, blah, blah, blah.... It know seems, seeing how things turned out, that it would have been a very good idea to test. But as you say, they make you feel this small when you suggest, as if it's the most absurd suggestion they've ever heard.

We deeply regret listening to her, but what can you do! They are supposed to be the experts and we listen. Would we have stopped trying even if we knew, probably not, but after three losses, you have to say to yourself, enough is enough. We gave up hope for a while until we heard about PGD. We don't expect a miracle with this technology, but we feel we should at least try before adopting. We are still waiting for the results of the genetic testing, amniocentesis and autopsy, which should be complete in a matter of a few weeks, after waiting over 3 months!

If there are no conclusive results we are going ahead with adoption, because the risks of miscarriage or stillborn (which amounts to the same thing, seeing as they were all affected with some abnormality one way or another) are too high. They did say that it could be what they call a mosaic effect, which means that neither parent carries the mutant gene but either the egg or sperm are randomly chromosomally abnormal, which is even worse because it means you're playing Russian roulette with each pregnancy. Did you not get told about this by a genetics counsellor? Mind you i had to beg to see one, they were still not interested even after three losses.

I agree whole heartidly with you, they don't care, they couldn't give a damn if, in the grand scheme of things, a small percentage of couples fail to conceive or miscarry repeatidly. We're a small minority to them and i bet it costs too much money for them to suggest to test each time a couple miscarries. At the end of the day, you have to take matters in your own hands, i learnt my lesson 3rd time round, the hard way. That's life, unfortunately! What can you do...

I am an OTA in the school system here. I used to work with a little boy who had Aperts. I'm happy to offer whatever I know about it, through working with him.

As for PGD, I did it once (we carry an autosomal recessive disorder called SMA, which is the #1 genetic killer of kids under 2). We ended up with 3 embryos (healthy ones) transferred and none of them took. We could not afford to do it again as health insurance doesn't cover IVF for us, so it was nearly $20,000.

There is a doctor out there who I would NOT use for pgd. I will be happy to tell you who it is if you pm me. I don't want to put his name here publicly for a few reasons.

I have heard very good things about RGI in Chicago.

Best of luck in whatever you decide.

I am really sorry for your losses.

I am a geneticist and work with craniosynostosis. There are a few things I would do first.

Wait for the genetic testing and go to a geneticist with it. If you or your husband do not have the syndrome (which I do believe so, because it is very obvious to see) then this was a new mutation and the chance of this happening again is very low. It is possible that the two other miscarriages are not related to this loss.

PGD would not be recomended for a case of Apert syndrome because the recurrance risk is very low. I do not know any case of recurrance with normal parents.

Please, go to a geneticist and talk to him/her about it. It is important to know all your reproductive story and losses as well as your families stories. Do you have pictures of you baby? Take them too. Apert is very easy to diagnosis because they have fused fingers and toes. Did you baby have them? You need a clear diagnosis to talk about the future.

I am so sorry you have to go through all this....

hugs and good luck with your decision.

Fernanda
adoptive mom and geneticist

Thank you very much for your reply; it was very helpful to us.

We did, finally, see the genetics professor with the results of the tests. He said that our baby did indeed have the mutated gene that caused Aperts but that is was a "random mutation" and that it was an "unfortunate" accident and the probabilities of it happening again were low. Since neither my husband nor I are carriers of Aperts, he doesn’t seem to think PDG is useful in our case for the same reasons as you wrote.


Our options are to try again naturally, wait till the 12-14th week of pregnancy and do an amniocentesis, to check for Aperts and Downs, etc. And if that doesn’t work out, we could always think about adopting.

So, its back to square one for us. We have a lot to think about, especially myself, since I’ll be doing all the hard work, before we make a decision.

Thank you all for your replies; they were all very helpful to us and much appreciated.