Saethre-Chotzen syndrome & Ptosis

[Satori]

My little angel has ptosis and has since the day she was born. Our Ophthalmologists is reccomending against fixing it due to fear she will never be able to close the eye properly again and end up going blind from retinal damage. We just learned about the SCS and everything I am reading says to repair it. What do I do? I mean should I listen to this Dr? Is this a very valid concern/risk or is it rare? People are always asking me whats wrong with her eye and i'm dreading the day she's old enough to understand people are talking about her:(

[craniomommynbaby]

First of all, I wanted to say :welcome to the board. As you have probably seen and heard, this board is a great group of parents who can offer a ton of support. In some way, we all know what you are going through.
In my situation, the geneticist thought that we have Saethre-Chotzen due to the family features, but the testing for the TWIST mutation came back negative. This test is not 100% accurate, leaving us still with the possibility of that syndrome. In one way, it is nice to have answers. In another way, it is scary to think about all the other possible features that could appear in my son's children.
As for the ptosis, my mother had surgery for it as an adult. She found that it worked wonders. Before the surgery, she really felt that her eyelids were in the way of her vision. Afterwards, she had a much better range. If you are uncomfortable about the discrepancy between what the doctor says and what you have read, I would encourage you to get a second and maybe even a third opinion. You want to make sure that you see a pediatric ophthalmologist who is familiar with cranio and the various syndromes.
As for worrying about what people say, we all do that. :hugg I think it is one of the requirements of being a parent. Speaking from experience, your little one will be fine because of the love and support you can give her. You can set a good example of how to get to know people for who they are and not what they look like, and you can help her to realize that people who make fun are usually insecure of themselves and need love. My mother worked very hard to instill that in me, and it has really helped. Now, I have a loving husband who reminds me every day of how beautiful I am no matter what "defects" I have.

[cheryl2]

Hello,

Both Clara and I had our ptosis repaired. I have spoken to a few opthomologists , and can't remember anyone mentioning blindness from retinal damage. Just curious, did your opthomologist say she would go blind because of not being able to close that eye properly? It has always been my understanding that if the ptosis is not fixed, the child can have vision problems due to the eyelid blocking vision in that eye, causing the child not to use that eye as much. If the ptosis is not severe enough to block vision, it was my understanding the the doctors are not in a rush to fix it. Even when they do want to fix it, they often want to wait for the child to be older , for reasons I will try to explain below.

As for not being able to close the eye properly, that is true, but I don't find it to be that big a deal. Plus, with Clara, our surgeon used a new procedure that allows her to close her eyes when sleeping much better than I can. I can close my eyes, but when I sleep, they are half open. The only problem is that I have to use eye drops because they dry out easily. I had the surgery nearly 30 years ago now and so far, I'm not blind.

What they usually do to correct ptosis is to use a very strong material to use to lift the eyelid up and attach it to a muscle that lifts the eyelid up and down. Closing the eye becomes harder because the eyelids are now shorter. It depends on how flexible the material is how much the person is able to close their eyes.

With me, they used a tissue called fascia, which they got from my leg muscles. I have about a 3 inch scar on my left thigh. They still use that procedure, but Clara's surgeon used a special type of silicone thread. It is more flexible than the fascia, so that is why she is able to close her eyes better than I can. Also, they have to wait until the child is older (I was 7) because the child has to be big enough for them to be able to get enough fascia to use. Apparently, they need a lot. I don't know why. Clara had the surgery at 2 1/2, since they did not need to use fascia.

I'm wondering, was your opthomologist a pediatric opthomologist? I would definiitely use a pediatric opthomologist who is familiiar with cranio kids. Also, the opthomologist would not do the surgery, if you decide your daughter needs it. The surgeon we had was more like a plastic surgeon who specializes in the eyes.

Finally, I agree with Cindy. Your daughter will grow up knowing she is loved and still beutiful even if she may look a bit different.

Take care.

[Andi]

Welcome!

My family has had Saethre-Chotzen for generations, and my uncle and aunt and my cousin had their ptosis repaired when they were all children. The only problem my uncle and aunt encountered from their correction (and this surgery was in the 1940s, mind you) was that there was scarring on the inside of their eyelids which prevented them from ever being able to wear contact lenses. They both were nearsighted and had to wear glasses all their lives. Otherwise they're certainly not blind. My mom and I have mild ptosis, but we never had surgery for it.

I agree with everyone that I think it's worth getting a second opinion, especially from an opthalmologist who has experience with this syndrome in children. I don't think your doc would fault you for investigating the problem thoroughly.

[cheryl2]

I was told I could never wear contacts either. I thought it was just because my eyes would dry out too much, I can't remember anyone mentioning scarring of the eyelids, but maybe that's it. I've had glasses since I was 6, and never really wanted contacts all that much anyway.

[Andi]

I would also add that my aunt and uncle, and my cousin and his daughter (just 1 1/2 years old now) coped with their ptosis before surgery by having to tilt their heads back in order to see out from under their eyelids. My mom remembers seeing her brother and sister running around as kids, heads flung backward really awkwardly. I can't imagine that developmentally (physically and psychologically) this would be good to let go for a lifetime. There's pros and cons to everything, though, so see what your docs say.

Also for me, the eye with the droopier eyelid has been my "weaker" eye and I suspect the ptosis led to my strabismus in that eye. I'm going to vision training for it now, and it amazes me how I can consciously learn to use that eye whereas before I repressed my vision on that side. It turns out that my vision is just fine on that eye, I just have to learn how to use it. I would think that uncorrected severe ptosis in one eye might lead to monocular vision at the least.

[Satori]

Thank you everyone:) Lilly does do the head tilting thing and the Dr decided its time to do the surgery because the eye lid is covering half the pupil half the day now so we've been referred to an ocular plastic surgeon who has experience with cranio kids and the consult is scheduled for Dec 13 but if she decides to operate it won't happen until at least the end of Jan due to vacation and the holiday.

[Satori]

Just an update, surgery is scheduled for Jan 22nd and I don't know what to do! The Dr gave me the choice of the fascia which scares me because it comes from a tissue bank instead of my daughter and I've heard a lot of horror stories from tissue banks and I wonder about rejection or using the silicone rod thingy which again leaves me wondering about rejection since my body rejected a silicone implant years ago. I was seriously wondering if we could put it off but we saw the retinal specialists today and we discovered 2 things, she's showing preference for her other eye and not really using the droopy one and she's developing strabismus in that eye from lack of use as well so I have to start patching her to force her to use the droopy eye. For those that have had the surgery, which method do you think I should use and why? I've tried looking online but I'm not finding anything, maybe I'm looking up the wrong terms?

[Satori]

I am seriously glad I got a copy of the Dr's notes today because I usually leave there going huh? I looked up strabismus and learned something new, I thought that's what he was describing, guess not. So I dug out his notes from today and it says Amblyopia. I feel like smacking him upside the head after most visits because I can't get the man to tell me a dx in plain slow english! I mean yes he's used to dealing with clueless people and his bed side manner isn't the best but he's very good from what I hear so I put up with it and just get a copy of his chicken scratch ummmm notes... to see what the dx is.

[cheryl2]

Hi Satori, doctors, especially specialists, often don't have great bedside manners. It's frustrating, but it's hard to find a doc that is both good at what he does and has a good bedside manner.

Anyway, as to what procedure to use, we went with the silicone rods for Clara. Our doctor said the rejection risk is very small for the silicone rods. If you had problems with silicone though, you might want to ask if the risk is higher for your daughter. There may be less risky to use silicone rods than other types of silicone products, but I don't know if that is true. I really don't know how the risk would compare with using fascia from a tissue bank. When I had ptosis surgery, they waited till I was 7 and big enough to take it from my own leg.

Clara had no problems, and the silicone is more flexible than the fascia. So Lilly should be able to close her eye when she sleeps better than if she had the fascia. We are quite pleased with the results using the silicone rods. But if you investigate and find that the risk of rejection from the silicone is too high, the fascia does work very well too. The only annoying thing is that she won't be able to close that eye all the way when she sleeps, which dries out the eye. I use eye drops morning and night. But that's a minor inconvenience.

One more thing, we took Clara to a few different opthomologists. One said she had amblyopia and we were patching for a while, then 2 others said she didn't. So it may be worth it to get a second opinion.

Good luck with whatever you decide, and let me know if you have any more questions. Take care

[Matthews Mommy]

:welcome I do not have experience with ptosis, but I know how all this feels when your going for surgeries and diagnosis it's like everything is spinning around you and it happens so fast, we moms are so desperate to change it and we feel helpless. I want you to know you are not alone everyone here has experience in all different aspects, I will pray for you and your family and again welcome to craniokids.

[brandym77]

Hello everyone. This is my first post here, as I just became a member. My daughter, Presley, had the eye lid lift in late November. The results were wonderful at first, but now her left lids is "droppier" than before we had the surgery. Our pedi eye doctor used the threads to do the lift. He never mentioned any blindness occuring from the surgery, but did mention the risks of not having it done; blindness being one of them. We are going back this week to look at her vision and more into the muscles of her eyes. We were diagnoised at 5 months with Saethre-crothzen syndrome, and the eye problems we are experiencing are part of the syndrome. We are not sure if she has any cranio problems as of yet. However---we have major slanting of the right side of the back of her head, and a very low forehead, so maybe there is. We saw a neruo doctor right after we were diagnoised to rule out any premature fussion of the skull. Everything was good with that then. As for other symptoms that go along with SCS, we seem to have almost all of them. We have pysical and developmental therapy on a weekly basis. On April 16th, we are going to have her cleft palate fixed and tubes put in her ears. right now, she can't take in anything orally and has a g-tube. The g-tube was put in in late October, and has helped so much with all of the feeding issues. We just saw a cardio doctor, who informed me that the muscles in her heart are to thick. I can't recall the term for that right now, other than it starts with an m. What I can remember the doctor telling me is that her heart can stop beating at any time. Funny how we can always remember the bad things that doctors tell us. In my case, it has been alot of bad news from alot of different doctors. Presley has skew feet, which she had a series of casts from about 2 months till about 6 months. Her feet are fine now. However, we have to go back to him(ortho) to see if she has soliosis(spelling?), her spine seems to be curving in a bit. She has weird shaped low set ears, her pinkies overlap her other fingers, she has more control of her right side than the left, there are more issues that I am just leaving out due to lack of sleep and stress. I have 3 other children are healthy and do not have any syndromes, all this is very scary for me and them as well. A lady who has a son with SCS referred me here, and from the looks of it , this place is great. Like I mentioned above, we are unsure of the cranio right now. But I am sure when we go for our visit, the doctor will say we do have some form of it. Another doctors visit, another issue. Sorry but this has really helped me to vent, and reading posts has helped me feel not so alone now. Thank you for taking the time to read this, I am not really sure if I posted it in the right place or not. Brandy

[Mom2William]

Brandy
Just want to welcome you to this site. My heart goes out to you! This is a great place to just vent and make some new friends.
Sending you many hugs.

[Jen mo3]

Brandy,
Girl - I can relate... My son who is now 8 has a story So similar to Presley's. Hang in there! Although it can be and IS stressful, just remember that your daughter was given to you for a reason! Sometimes that is the only way I can get through the hard times! I feel for you and can TOTALLY relate! Isn't it nice to know we are NOT alone?

Jennifer

[brandym77]

Hello everyone! We had our visit with the eye doctor. Everything looks great! No bad news!!!! And regarding the left eye lid being droppy, he said that it is fine, not affecting her vision at all. The right lid just works alittle harder so it goes up more. That is the side of her body that is stronger, so that I guess makes sence? Doctor said that it's just a cosmetric issue right now and that will not be fixed untill they go in around 5 years of age to get the more permanite results. Unless the lid does actually become droppy then it will have to be fixed. Ok, so next appointmnets are back to the neurologist on the 9th (to see about cranio), back to ortho to look at her back on the 10th, pre surgiacal with her plastics dr on the 11th for her cleft surgury on the 16th, and on the 12th I have to go get 3 cavitities filled for myself. On Monday Presley will be a year and I am not quite sure what to do regarding her birthday--she can't have cake so I can't get the really cute pictures:( Chasie will be 3 on April 7th, and then there is Easter on the 8th. The boys are home that firt week for spring break. Still potty training Chasie--she is getting better. Not one accident yesterday, but she did go #2 while she was sleepin. And baseball for the boys is getting ready to start. Hopefully they will be on the same team. And Chasie starts dance class the second week of April. Let the craziness begin!!!! I tried posting some pictures to my profile but it would not take them. I will try again later. Sorry for all the rambling!!!!!!!!!!!!!

[Satori]

That's odd, I never got a notice I had replies! Anyway, Brandy, are you on the SCS yahoogroup? My dd is almost 10 months now and just had a ptosis repair last month with no major complications although for some reason one of her stitches came out a week ago finally and it got infected:( Which method did you go with? I ended up doing the silicone because I didn't feel comfortable using the donor tissue from a bank. I used a bank to get my dd to begin with and I ended up with a donor who hid the fact SCS is in his family! So I don't trust banks to much anymore. My dd also has delays due to hypotonia, major feeding issues as well from it. We had to go back to the GI a few days ago and my dd only gained 1oz in 3 weeks (it was longer but that's what it was between visits). The dietitian wanted to put in an NG tube but the GI said no. and gave us high calorie formula to give in addition to breast milk. We finally figured out something that worked and she's gained 4oz already in the last 3 days and its like someone flipped a switch. She's suddenly scooting around on her belly a bit and today was able to pull herself up to a sitting positing by grabbing onto my shirt so I'm all excited.:icon_mrgr

[brandym77]

Satori, lets chat!!!!