Saethre-Chotzen syndrome.. passing it on to your kids.

[Anna Webb]

hi Andi, Im not sure where your at now but I wanted to respond to your post about your not good memories of your surgery. Our daughter Lily had her surgery a little older than many of the babies on this site. Unfortunatley she had a late diagnosis and was 20 months at the time of her surgery. I think your right that techniques have changed alot. Although really traumatic for my husband and I, Lily actually was not traumatised throughout this experience. Yes, she did have wires and drips, a very tender wee head, and a swollen face and I cried and cried for her at this time, but she was never more than what i would describe as 'uncomfortable'. I am sure of this because now that we are home from hospital she tries to replicate her hospital environment by sleeping with a dog and bear she was given at hospital and by asking for 'muuix' (her word for classical music) at bed time which i played her during her recovery at hospital. I was not expecting this at all and i too worried endlessly about the pychological effect of all this. I really think that my staying with her and not leaving her side for the whole experience (-the 4 hours surgery) really reassured her. I just wanted to reassure you a little and i hope i have.
anna

[brandym77]

As you all know I have a daughter with Saethre-Crotzen Syndrome. There are no supports site for this that i can find; several sleepless nights of searches..... I have decieded to try and start my own up. If anyone has any thoughts or would be interested in this, please let me know. Thanks, Brandy

[Andi]

Hello, everyone! I am hardly here these days, but I received the site's email newsletter yesterday and I wanted to drop by. I happened to notice that this thread had an update. It's been, what, four years since I first came here, and I'm grateful for the replies on this thread. Thank you all for your thoughts and sharing.

jbirdblue, somewhere on this site I know there's old posts of mine discussing what we wound up deciding to do. We did go through IVF and PGD for SCS in the end. Interestingly, it turned out we had some infertility problems we were unaware of at the time, and the IVF procedures were the perfect intervention to deal with those. So we probably would have had to do IVF anyway to have children. This was a little bit of a blow to us, because obviously our finances are restricted, so if it didn't work out our initial plans (in case the IVF didn't work out) to just let nature do the work and not worry about passing on the SCS was no longer an option. Fortunately, after two IVF cycles we got pregnant with our daughter, Julia, and had one more unaffected embryo to freeze to use later. One reason I wanted to come visit the boards again was to share that we have transferred that embryo and I'm now pregnant! So this one is due 9/25 of this year.

I know my mom has struggled with what you are describing, jbirdblue, because (for good or ill) I know a LOT about my cranio surgery from the stories she told me about it -- and how it tore her heart apart to see me go through what I did. This is in addition to my own memories (conscious and unconscious) of the experience. But at that time, the only other choice was to not have biological kids at all, and since her family had been passing this on for generations, her experience of having the syndrome hadn't been that negative. It was only at that time (the 70s) when cranio surgery became an option that this was a repercussion of having the syndrome. And it's not that the surgery is unnecessary, I believe it truly was. But her family had just gotten along without it for so long (and in some cases, I think there were some cognitive effects from SCS as a result).

I know when my DH and I spoke with a plastic surgeon at CHOP about what kinds of surgeries could be expected for a child with symptoms seen in my family, the genetic counselor (Dr. Zackai -- actually, a bit of an expert on SCS, and a fantastic, if eccentric, woman) very compassionately noted that they deal with parental genetic guilt all the time, and that they have psychologists on staff to support the parents during surgery because they know it's probably harder on the parents than the kids. That was reassuring to hear at the time.

Right now, I feel 100% confident that we made the right choice for us to do the IVF and PGD. I know that for some people it is controversial. Some in my family (particularly those affected with SCS) would view such an intervention as destroying my children (because of the loss of affected embryos) but, while I view such life as very precious indeed, I know that they aren't equivalent to an implanted embryo, or a 10-week pregnancy, or a newborn child. For me, I'm okay with the ethics of that. And I know that for me, I did what I could to prevent passing on something that could cause distress and pain. I can't prevent passing on anything else in my genes, only the SCS, and I can't prevent passing on anything else that might spontaneously happen (such as Down's). In that case, we take what comes, and we will love our children with everything that's in us.

I'm glad we can all share honestly about this guilt and the struggles about what to do -- thanks again, and good luck to everyone who faces these decisions. I know they're monumental, but your gut and heart will tell you what is right for you.

[craniomommynbaby]

Hi, Andi! It is good to "see" you again! I have been thinking about you recently and wondering how your peanut was doing. Do you have some pics?

[Lesliew]

Hey,

I have a three year old son, diagnosed with bicoronal non-syndromic craniosynostosis at three months of age. The first round of genetic testing revealed deletion of the TWIST 1 gene, however, we still had no idea about the SCS.

Fast forward 2 1/2 years, 2 cranial vault reconstructive surgeries, ear tubes, intensive development therapies and 1 genetic test later...we have a diagnosis - Sathre Chotzen Syndrome.

Yes, it scared me stiff after reading so much disparaging data about children who are diagnosed with SCS (and the doctors were not encouraging). It was only after reading your post did I have a reason for hope. Your story it so reassuring. Thanks for sharing.

LeslieDSCN1130.jpg Welch-Gray
from Chicago, IL

Hi, there,

I'm so glad to have found these fora, I have been searching for parents' experiences with their children who have craniosynostosis syndromes, and especially syndromes like mine, Saethre-Chotzen. I'm 31 years old, married, but I have no kids -- we're working on that last part right now, which is what brings me here.

I have known all my life that with each pregnancy I had I would have a 50% chance of passing my syndrome on to my kids. What did this mean to me? I had surgery when I was a little over 2 years old, and those are my first memories. It was a very traumatic experience. The techniques were different then, and I still have a funky bump on the top of my head, but all things considered my facial assymetry is mild and all my other funky features (short fingers with a little webbing, imperfect hearing, one eye that turns in a little) haven't held me back. I live a very healthy life, I am an educated, successful professional and I am currently pursuing my PhD. So... still, what would this mean if I passed on my syndrome to my kids? Would I be bringing a child into the world who would have to go through as much early suffering as I did? If I could keep it from happening, would I? If so, to what lengths would I go through? There is the option of doing preimplantation genetic testing (PGD) with IVF to select embryos without the syndrome, and we are looking into this. But is that going too far?

I'm hoping to find parents with any of these syndromes, who have wrestled with the decision to have kids knowing that you would pass the syndrome on. What led you to the decision you made? I know that all of these children are wonderful gifts, and I do not at all want anyone to think I would advocate their being extinguished in favor of some kind of genetic "perfection" -- so please understand where I am coming from, as I have this syndrome myself and I love myself and my life -- and I am grateful for what my parents did for me when I was a child. I just know that if I knew I could prevent my kid's suffering, I would do it. But, again, how far do we go?

Thank you, I hope this question will be received in the sincere way I pose it.

Peace,

Andi