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

[Andi]

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

[Katie]

Hi Andi, welcome to Cranio Kids! I completely understand what you are saying about struggling with the idea of knowing your child could be born with Saethre-Chotzen syndrome. We worry because even before our children are conceived, we want what's best for them. We worry because we wonder if it is fair to knowingly bring a child in to the world who may have to go through what we, or our current children have gone through. We know that in most cases, almost all symptoms of SCS are treatable, but we don't know how hard that treatment will be on our little one. We don't know how many of the symptoms our baby will be born with, if any at all. We don't know if any of the symptoms will cause them a rough road in life, or be so mild that SCS isn't even diagnosed. It's an extremely hard decision to make because there are so many what if's. I wish I had a wise answer for you, but all I can do is let you know I understand your feelings, and share our story with you.

A little of our background:
Our genetecist is fairly certain that SCS is what our son Dillon has, although we have not yet had the blood work done (which only has a 60% sensetivity rate). The genetecist also pointed out that Doug's features are slightly asymmetrical (something I hadn't even noticed before it was pointed out). Dillon's aunt and cousin were both born with craniosynostosis, but Dillon's case was slightly different than both, he was bicoronal and metopic, they were bicoronal. The difference in severity and possible undiagnosed cases in the family is why the genetecist is leaning towards SCS, as most other syndromes don't have such a variance in symptoms.
Dillon is currently in physical and occupational therapy, as well as having his hearing monitored due to possible hearing loss. He will be undergoing more reconstructive surgery, but we are not sure when that will happen. That said, he is an amazing boy. Most people who meet him would never guess what he has gone through. He is a smart little man, and never fails to light up a room with his smile. Although it breaks our heart to see everything he has gone through, we know in the long run our little trooper is going to be just fine. :adore

Again, I'm glad you found us Andi, and hope to hear from you again :hugg

[Doug]

Welcome to the board Andi! Thank you for sharing your thoughts. Katie has already stated a lot of our feelings. I personally have grappled with some of the same issues as yourself. I sometimes feel responsible for what Dillon has gone through. It appears that Dillon decided to follow daddy's genetic traits. My case being so mild that it was never diagnosed, or considered an issue. Our geneticist had mentioned the possibilty of preconception testing if we decided to have another child, but he did not elaborate on the procedure. We would be grateful for any information you could share on that.

As you had stated, the procedures in the past were somewhat archaic. They have made many advances in the treatments. With what we know about SCS, and the varying degrees of severity. It makes the decision very difficult. Their are risks you take with just about everything. Babies are born with these syndromes without any parental history. Do you not have a child based on that? Most people do not even consider their risks. I would say let your heart decide. I could not express how much Dillon has taught his mommy and daddy about life, courage, and strength. I would not change a thing. I personally would not let a little imperfection stop me from enjoying the love of a child.

Although this is a very tough decision, you and your spouse will make the decision which is right for you. The two of you have spent the time doing your homework and are informed of your risks. As Katie stated, testing only has a certain amount of accuracy. This probably hasn't helped make you decision easier. Feel free to explore the board. They're many different stories among the individuals that are here. We are all willing to share our experiences and thoughts. Hope to more from you soon. Welcome again!

[Andi]

Hi, Katie and Doug, and thank you so much for your warm welcome and honesty.

I don't doubt that whatever my husband and I decide, we will have a fantastic kid (or more) and we will feel good about our decision, knowing we investigated everything. So this questioning is part of that investigation -- thank you for listening and taking time to reply!

Doug, the Preimplantation Genetic Diagnosis is a pretty involved thing, and I don't know yet if we're eligible for it, as I have not yet been tested to see if I have the TWIST gene (we have our first genetic counseling appointment next week). If they can find the responsible gene in me, then technically they should be able to do PGD -- eggs are retrieved and fertilized through IVF, the eggs are allowed to grow to about 8 cells each, and then one cell is removed from each resulting embryo and tested to see if they carry the gene you're concerned about. The eggs that do not have the gene are transfered to the uterus. Apparently it's a fairly safe, relatively frequently practiced, and successful procedure, and from my research it seems to have only a slightly lower "success" (full-term pregnancy) rate than regular IVF (which varies according to your age and by clinic to clinic, but something like high 40%s). It's expensive, as the procedure adds another $2-4,000 onto the IVF pricetag (I've seen it at around $10-12,000). And there's no 100% guarantee that the child will be totally free of the syndrome -- the success rate of screening for your target gene is in the high 80% range.

As you both point out, SCS has a high variability in its symptoms -- although it seems that in my family we've mostly had mild craniosynostosis, as only my cousin (the only other one in my generation) has had surgery to correct it. I have a half-sister who was born in the mid-60s who was never diagnosed and since has had three daughters, all of whom appear to have the syndrome but she and her husband have decided to not have surgery; while they are beautiful and extremely intelligent kids, they do have some noticeable facial abnormalities, with possible multiple suture involvement. My craniosynostosis seems to be only coronal, but my medical records from that time have disappeared so I am not absolutely certain.

I guess I am thinking out loud here, but I suppose my worries about passing it on are not just about the initial surgery -- I know hospital care has changed dramatically since I was a kid, and there's a lot more done these days to make tests less frightening and to keep kids as comfortable as possible. I was teased as a kid, though, and my self-esteem was never the best for many years. I have grown a lot since then, gained a lot of self-acceptance, and I suppose the whole struggle hasn't been that different than what other kids have gone through growing up. Neither have I had to deal with any other intervetions for the SCS such as OT or PT, and my hearing is functional without hearing aids.

You guys have given me lots to think about and pray over. Thanks again. I think the genetic counselor will also be some help, too.

Andi

[Andi]

Another thought, which I meant to include in my last post, but breakfast was cooking and I needed to leave....

It sounds, Katie and Doug, as if you didn't know that you would pass on any kind of craniosynostosis when Dillon was born. So yes, not knowing what can happen developmentally is a risk that every parent faces when they decide to have children. So Dillon comes into your life with these needs, and you obviously do whatever you have in your power to do to help him out, and you see him developing into a wonderful kid.

But knowing that you have the significant potential to pass on a syndrome such as this is a different thing than not knowing if anything can happen -- does that make sense? Even if we did the PGD for SCS (and you can only test for one gene at a time with PGD), we would still be at risk for any other kind of spontaneous or genetically-based abnormalities that anyone else would have to face. We're alright with that, life cannot be predicted. But this is a known risk, which we can prevent if we choose to.

So why wouldn't I choose to prevent it? Is there some value in my child having SCS? Naturally we all have difficulties in life, and preventing SCS won't make all of them disappear. But why would I want my child to have my syndrome?

Thanks for listening, I think there's very few people out there who are dealing with these questions, and I've been grappling with them for years. I appreciate any thoughts people have.

[craniomommynbaby]

Hi Andi!

Welcome to the boards. Reading your posts is almost like reading my thoughts aloud! As you can tell by my siggie, I was born with right coronal fusion (as best I can tell since my medical records are also gone), and I do have a son who was born with bicoronal cranio. About half an hour ago, I was mentally wrestling with whether or not I want us to have another child after knowing what Simon went through. Deep down, I really do want to go through pregnancy and a baby again in the future, but I get these other nagging thoughts about the cranio. Would the next child go through the surgery as successfully as Simon? Would the next child exhibit more characteristics of our syndrome? :nervous It was amazing to come on here and read your posts so soon after going through the mental debate once again. (I am at school grading papers, and I have too much time for my mind to wander. :giggle )

To tell you a little more about us, we are currently in the process of genetic testing to try to pinpoint our syndrome. We have been tested for the TWIST mutation, but that came up negative. The geneticist was so sure that we had Saethre-Chotzen because of all the different symptoms in my family. I know of at least 4 of us who have had the cranio surgery, and I have lost count of the people showing evidence of untreated cranio. My mother has short, stubby fingers; and she had surgery for droopy eyelids. My cousin (one of the cranio surgery recipients) was born with one ear folded in half and the other ear missing. My grandmother, mother, and I are legally blind in our right eye and also have amblyopia. (The docs think the blindness might be syndrome related as it was present at a very early age so that we do not remember it ever being different.) My son has uniquely shaped ears. The skin at the top of his ears is fused in a way that makes them pointed like an elf's at certain angles. We do not know of any family members with webbing of their digits, but my pinkie toes are curved sideways. Simon developed hypotonia before his surgery and started losing weight as well. Since then, he has continued to have a voracious appetite but has regained a healthy size. He has been in physical therapy and occupational therapy, and he is catching up quickly. He might start speech therapy soon to help with his nonverbal communication, but I am not sure if he really needs it. (He does not wave bye or clap his hands, but he is also the kind of kid who does what he wants when he wants. He really does not care to imitate us.) It is hard to say whether those issues are from the syndrome or cranio or both. In some of the untreated cranio, there is a strong presence of mental illness and low IQ; but again, we have no way of knowing if that is related to the syndrome or the cranio or something else entirely.

With all of that laid out, the decision about having another child is very difficult. When I got pregnant with Simon, I went in with the thought that the syndrome only existed in the female members of my family. It was not until Simon was born that I realized that other male members have it too. I still wanted to have a baby, and I figured that a cranio baby would turn out just fine just as I had. I had surgery at 2 months old, and I have not stopped since. Like you, I have a funny bump on my head and some asymmetry, but I also have a soft spot. I had to wear a helmet in P.E. in school, and I am not supposed to play sports that have hard balls. I dealt with the embarrassment involved in wearing a baseball or bicycle helmet while playing soccer or basketball. I also experienced the annoyance with the whisperings and drawings about my crooked face and lazy eye by students when I attended middle school and later when I taught middle school. Despite all that, I wanted to experience the miracle of life. God granted me that miracle, and I have no doubt that Simon was specially chosen to be ours.

This kid and I endured 3 hurricanes and dehydration, a major car accident (rollover in a truck), and an emergency c-section during the pregnancy. He never blinked an eye. He went through his surgery like a textbook case, and he was ready to go home the fastest of any patients the nurses had seen. He has overcome so much, and I have never felt that it was unfair of us to bring him into the world. He always has a huge smile on his face, and he brings joy to family, friends, and strangers. His story has helped many others that we know of and I am sure even more people we do not know. I cannot imagine the last year without him.

With that said, you probably wonder why I am mentally debating about having another child. I believe that we are meant to have Simon and any other child that comes our way, but I wonder if the next child is meant to be biologically ours. What if the next time the baby has the syndrome and ends up with more problems besides the cranio? I know that we will find the strength to deal with whatever comes our way, but what if the symptoms cause some kind of suffering? As I am typing this, I am mentally reviewing my family tree and know of no definite cases where the syndrome caused someone unbearable suffering. Still, my logical mind goes through these lists of questions and possible scenarios. For us, embryo selection does not seem to be an answer; yet, I wonder if it is somehow our responsibility to try to eradicate this syndrome? What kind of moral responsibility do we have? Ugh!

Well, all this typing produced no answers. :shrug I am sorry for this being so long, but I still have so much more to say. Maybe I will post again later. I really should get some work done so that I can go home. By the way, I turned out pretty good too. I am a college math professor, and I am married to a math teacher. Knowing that I had the surgery and came out okay really helped when we had to prepare for Simon's surgery, but I still came out of the ordeal with a new perspective about my parents. My father was with us in the hospital during the surgery, and it was really comforting to know that he had survived 28 years before and was there worrying just as much if not more than we were. Just talk about weird ways to bond! :rofl

Okay, I again have said quite a bit. Take care, and visit us again. :hugg

Oh, one last thing...if you would like to see our site, e-mail me at craniomommynbaby at yahoo dot com

[Andi]

Hi, Cindy --

Wow, thank you for sharing about your family and your own struggles. I am also glad that people aren't judging me for asking these questions -- I had mentioned the PGD to my mom once (she passed on the SCS to me) and she had a negative reaction to the idea at the time. I think she understands better now why we're thinking about it.

But before getting into that, I have to thank those who started the site and the fora -- it's just amazing to see these pictures of these beautiful kids. I have often felt very alone with this syndrome, as even the other family members with the syndrome were distant and so I never had any kind of interaction with anyone else who had been through this. Reading these stories about surgeries, struggles with insensitive dorky people who don't know how to deal with others being different, the odd quirks our bodies have, it's just so strange and ... I don't know, "affirming" isn't quite the word, but -- just good to know that there's others out there like me (how's that for an internet community slogan?).

Cindy, the features you describe don't sound a lot like my experence with SCS, but I'm learning that we may have a pretty mild form of it in my family -- not mild enough to be undetectable, but without many of the complications you have experienced. I just talked with my mom last night about my situation and surgeries, and I know now that I had coronal fusion on one side, but they operated on both sutures to be safe. My surgery was in the spring of '76, so not too far off from yours! I was a little over two years old at the time. When I was 5 I had eye muscle surgery to correct the strabismus in my right eye (turning inward), or at least attempt to correct it -- I don't think it did much of anything. My vision is not stereoscopic, but I can use my right eye consciously (so I can switch seeing with one eye or the other - it's kinda weird!); currently I'm doing vision training to learn how to "eye team" and see things in 3-D. So far I see double a lot, we'll see how it goes! :D Other than that, I have odd minor features, like the simian crease in the palm of my hand -- which is also an indicator of Down's syndrome; when the doctor told my mother I had Down's and told her why, she held up her own hand and pointed to the crease and said, "Oh, like this?" That stumped them a bit. I have pinky fingers that don't straighten out, my toes are odd lengths, my face is "flat". My mother and I also have a little spine curvature, although hers is a little more severe and goes a little sideways, whereas mine just makes my butt stick out a little. :P

But I'm active, I jog and do gymnastics (yes, at my age!), I am a musician and have been healthy most of my life -- the early surgeries being the only exception.

You questions are so similar to mine -- what moral obligation is there to preventing suffering for your kids? You also add another dimension to it, that is "unbearable" suffering. I have to say that none of my suffering was unbearable. What makes suffering unbearable, though? How would you know if it's unbearable for a small child? These questions are rather philosophical in nature, I guess, hunh?

I, too, certainly want the experience of bearing a child and bringing it into the world. If we cannot do the PGD, then we will take our chances and do things the old-fashioned way. :) And we may decide to not do it at all, if our risk-benefit analysis shows us that it's not worth it. What is comforting, though, is knowing these things: that kids are so much more respected and cared for in hospitals these days; that our kids will have me, with my experience, to see them through any hospitalization they may have; and that there are others I can talk to -- like you guys -- who know what it's like. My poor parents hardly had any of these things, and I can't imagine how they coped.

:hugg to you all. Thanks for the feedback. And I will let you know what we learn from our geneticist -- I am excited to ask questions and learn more.

[Jenny]

Hi Andi!
I'm Doug's sister, Jenny. As a baby, I was diagnosed with pfeiffer's syndrome. I had the reconstructive surgery as a baby. I am now 25 years old. Doug told me about your concerns. I too, was afraid of what would happen when I had children. I didn't want to put any little soul through that kind of trouble. Like you, chances of passing the gene was a 50/50 split. I love kids, as does my husband. We were married in april of 2002, and in june of 2002, we were pregnant. It wasn't exactly a planned thing, lol. I gave birth to a baby girl in february of 2003, via c-section. Unfortunately, the gene was passed on. She was diagnosed just with a craniosynostosis, not yet diagnosed as to which one. At 5 months old, she had her reconstructive surgery. It was 8 hours long, but it was successful, and after that she had helmet therapy. She's the one in the pink sweatsuit on this site's main page. She's beautiful. She's now going to be 3, and she's very typical. I have no reservations about having her, even with the trouble she's had to go through. And just as a positive note, I gave birth to another baby girl in October, and she is syndrome free! I never thought I could have a syndrome free child. I just thought it would inevitably happen. I'm glad I didn't hesitate on having children, or I wouldn't have the two beautiful girls I have! I hope I can offer you some encouraging words. I'm available to chat if you'd like!

Jenny

[Andi]

Hi, Jenny -- thanks for sharing your experience. Your daughters are so beautiful! I will remember your family as we wrestle with what to do. As I said before, there's really no "bad" decision to be made here, it's just what our guts tell us is the best thing for us to do. After our genetics counseling this week, I'm feeling very supported in fully investigating our options, and I'm also feeling very fortunate that we have this support to begin with. If I have more questions, I'd love to chat with you -- thanks for the offer!

[Jenny]

Anytime! I'm happy to see someone here that is also an adult with a syndrome!

[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.....:banghead :banghead :banghead :banghead :banghead 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

[jbirdblue]

Wow...
I'm an English major lost for words.

To read everyone's posts makes me feel as if I finally belong somewhere and I can so very much relate to all of you.

I too am an adult (and mother) with a craniosynostosis-related syndrome. However, I was not correctly diagnosed as a child (though definitely had the traits). My parents were offered and refused surgery for me as an infant so I have grown up with the ever-present traits of craniosynostosis.

It was not until my son was born in October 2009 that I learned about the different syndromes: Crouzon's, Pfeiffer's, & Saethre-Chotzen. I began to learn about these because I had unknowingly passed on my syndrome to my son.

Currently, we still do not know which syndrome we have, though my money is on Saethre-Chotzen. We'll be doing genetic testing at the end of 2010 so I'll have more answers then.

That being said, I can tell you that the surgery to correct the craniosynostosis seems to have come a long way. My son had a craniotomy with fronto-orbital advancement in February at only 3 months old. He came through the seven-hour surgery like a trooper and has mostly recovered now. We had a wonderful team of doctors at Scottish Rite Hospital in Atlanta. Our plastic surgeon described my son's case as more severe than many he dealt with but said that the surgery could not have gone any better than it did. We are so thankful for this surgical team as they likely saved our son's life.
He was basically back to his normal self after about 3 weeks and developmentally is right on track with the rest of the six-month-old crowd.

I can also relate to your struggles with having a child with the knowledge that you can pass on this syndrome. I have struggled with this as well in deciding to have any more children. My husband and I have actually decided not to have any more children simply to save that child and ourselves from having to go through the stress of the surgery. I have often wondered whether or not I would have ever chosen to have children in the first place had I been aware that I even could pass on my "issues." But I know that I wouldn't trade my son for anything in this world and he is the greatest blessing I could ever ask for.

And to be honest... I'm still struggling. I blamed myself in the beginning for his problems and I still blame myself and I'm so afraid that he's going to have to deal with a lot more than he's already been through and to be honest my heart just breaks for him.

I think I needed to get some of that off my chest and hopefully you all will understand, maybe better than anyone else.

[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.

Leslie18796 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