Discussions By Condition: Medical Errors

infant birth defects

Posted In: Medical Errors 21 Replies
  • Posted By: chancej
  • November 27, 2006
  • 09:22 PM

I was curious if anyone out there has lost a fetus or newborn with a combination of these three birth defects-tetralogy of fallot, esophageal atresia, and dandy walker syndrome? They say my little guy may have created a new syndrome, because they have had cases of genetic disorders with two of the combined defects, but not all three. All of our genetic and chromosonal testing came back normal on my husband, myself, and our infant. He didn't survive his brain shunt surgery and died 5 days after birth. I am wondering if I am alone in this situation or if anyone else out there had this happen to them as well??? They suggested termination, which we couldn't do, and the farther along in the pregnancy, the better the prognosis became so we were very hopeful. Two brain specialists seemed to disagree on what they saw in neonatal brain mri's, and obviously the one doing the surgery was incorrect. They even disagreed on whether it was dandy walker syndrome because one felt his corpus collosum was fully developed. The surgeon that performed the surgery wouldn't speak with us even after weeks of his passing, and we were torn as to what to do. We never pursued it any further, hoping our healing would go faster. Now 2 years later I still have questions and doubts. Our second son was born perfectly healthy and we are very fortunate. Part of me feels like I could help someone else, and would also like to feel like we aren't alone in this type of birth.

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  • I work at the University of Kentucky Medical Center and we have a genetics department there. I am sure at any large medical center, they have a genetic specialist. Perhaps, through your OB/GYN you could contact someone in that department who could take a look at what occurred with your son. I am a nurse in a neonatal ICU and have seen many babies with multiple congenital anomalies and their chromosones return as "normal". However, scientists are mapping everyday different genes and chromosones in the genome study and are revealing more and more things that possibly a basic chromosone test may not reveal. Some things are so rare, that unfortunately you may never know why it occurred in your lifetime. That, I am sure, is a hard thing to accept. Some things are just random occurrences, nobody's fault...they just happen. It could happen to anyone of us.Personally, I believe that if there has to be children with medical issues, He gives them to special people. People who can see the true beauty in them and love them, and treat them with the utmost respect and love.If you feel in your heart that you have something to give to other people because of your experience, then you should pursue that. There are so many hurting families that don't have the "perfect" child (but who really does?) However, these families seek support and guidance and the best people to give that aren't the nurses and doctors but the people who have actually lived the experience. That would be a wonderful way to honor your son's memory is to talk about your experience with others so they do not feel so alone; Perhaps start a website, support group at your church, or volunteer at your local hospital or just give your name to your pastor or hospital representative with your phone number to anyone who has a baby with similar problems. That gives them the opportunity to call someone who will just listen and perhaps you can help them see the things that are perfect in their child.Your son has given you a gift and it might be therapeutic for you and your family also.Just some suggestions. Hope this was helpful.
    Anonymous 42789 Replies
    • December 21, 2006
    • 04:35 AM
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  • ^^^^ That was beautifully stated. Incidentally....I work for the Lexington Division of Fire and EMS (F.F., Paramedic/RN), and am proud to know that someone capable of writing such a thoughtful composition is working with the wee ones at the MedCenter. Now, stop burning popcorn in the microwave at 3am. It's getting a little wearisome for the lads.
    Anonymous 42789 Replies
    • December 22, 2006
    • 05:55 AM
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  • hi, though my daughter doesnt have any of those problems you mentioned, I wanted to respond as a mother of a child (she's now a teen) with a fairly rare birth defect (caudal regression syndrome). Ive never came across another child with her problem and only ever have come across one, an adult with it. I know so many "whys" go throu ones head about events which took place and also genetics. I often used to wonder, (I still do, that wondering never goes away), what caused my daughter to be born that way. Amazingly I think I finally may have found the answer to one of the questions I carried for 15 yrs. (I think now her problem was caused by a genetic problem that has just been found with me with the folate pathway, thou its not scientifically proven the link between my problem and her birth defect, that's making sense to me). All the little questions are important to us. I still even now, (15 yrs later), wonder what things would of been like for her if she wasnt born like that. To loose a child who has severe problems or to have one survive, I truely dont know what is preferable.... both things can be extremely hard. Both bring parents much pain. My daughter survived but her life for a long time was very terrible, what she's had to endure was terrible, she suffered a lot and I went throu all her suffering along with her. When older, she then blamed all her disability onto me cause there was no answers for it.... My child once died .. near miss cot death with a haemorrhage .. at that time thou she looked so at peace. Thou her death was always the thing I'd feared most may happen due to all the problems and surgeries she had, seeing her that way, I was happy for her, I'd never seen her looking so at peace. CPR was done and she was resuscitated thou so hence is still alive today. Im not sure (as she's a very angry child and hence dont see me much, she's now gone to live with her father) but hopefully now she is starting to enjoy her life some. She still has so many things in life to overcome including her bitterness at having to live with a disability. Those questions you have will always be there unless you can have them answered, so if there is a way in which you can get some of your questions about it all answered, seek those answers out. Sometimes the answers may not be the ones we want but at least we feel better knowing.... I truely hope my post hasnt been upsetting at all to you. I just hope you find whatever answers you seek. I guess I got some of my own stuff off my chest too. best wishes to you and your family.
    taniaaust1 2267 Replies
    • December 28, 2006
    • 08:56 AM
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  • I agree with the previous post about consultation with a Genetics specialist. The fact that the surgeon would not speak with you is disturbing. He/she did not speak to you at all about the surgery complications?? That's very unusual. Even if there is such a tragic outcome, usually they at least explain what happened to the parents. The other option is that very likely your family doctor was sent a report with regard to your child's stay in hospital. It is required by all hospitals that all patients discharged (that includes those who have passed away) have documentation regarding their stay in the form of a Discharge Summary. It will definately mention the surgical complications. Perhaps that will help you better understand what transpired. I am very sorry for your loss.
    Anonymous 42789 Replies
    • December 28, 2006
    • 02:32 PM
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  • This week was both the greatest and scariest time of my life. All through my pregnancy we were told my son would be terminal. He was diagnosed with congenital vertical talus, and a possible hemi-vertibrae in his sacral spine. All the specialist and my ob doctor assumed that he would be born with trisomy 13, or 18. After that I decided that I didn't want anymore stress of them treating my son as if he would die. I cried everytime I went to the doctor's office. We didn't even bother to buy a car seat for fear that it would remain unused. On New Year's Eve my water broke, I was only 34 weeks. When my son came out the first thing the neonatalist did was say He doesn't look trisomy. My Husband and I cried tears of joy. Now we needed to know what it was. Well they did a heart echo first. It came back normal. Next came the internal ultrasound of the kidneys, and other organs. This too came back normal. Next came the MRI of his spine, There was a problem, he was missing his complete sacrum. The spine was closed, no fluid or anything it just ended at L5. His pelvis was fused and stable. Then came the Cranial ultrasound this too came back normal. They then diagnosed him with Caudal Regression Syndrome. He is being treated like a premie and will soon come home. The news was the best we could hope for under all other choices. I'm so happy that my son will live. I don't know anybody who has had this condition. Only one of the nurses on NICU has ever worked with this and that was 30 years ago. So far my son's condition seems to be very mild. His feet will be surgically repaired. The only thing that he will suffer from that we know of is the possibility of incontinence due to sacral agenesis. I am so thankful that I will see my son grow up. Even if he comes to hate me and never speak to me again. I gave him life and I will know that I love him forever. Never in a million years did I think this would happen to us, after four healthy children I figured this would be the same. To the mother of the fifteen year old. Time heals all wounds they say. I have faith that your daughter is just acting out like most children do. I myself have a son who is structurally normal and says hurtful things. Someday he will know that I may not have been then most ideal Mother, but I have loved him everyday of his life. God willing you will have peace in your life. I was given that gift in my son, regardless of the outcome, I will never regret the decision I made to have him. I was blessed, and now all my children will get to experience this wonderful gift of life, my beautiful son, and our miracle baby.
    Anonymous 42789 Replies
    • January 8, 2007
    • 11:19 AM
    • 0
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  • I would love to get ahold of you - I lost my daughter in Aug, she was also diagnosed with Caudal Regression.I don't know how to privately email people, but I will check back frequently for your response.Tara
    Tarajnd 3 Replies
    • January 10, 2007
    • 11:10 PM
    • 0
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  • This is the first place I've seen anything from moms of kids with Caudal Regression Syndrome. I'm hoping that maybe you can share some experience with me. I'm 24 weeks pregnant and our baby girl was diganosed with Caudal Regression Syndrome about a month ago. She also has clubfeet (which I understand is pretty common with this.) She has complete sacral agenisis. I would so appreciate any answers as to what to expect with this baby. Thanks in advance!
    CRSmom 1 Replies
    • February 22, 2007
    • 05:28 PM
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  • CRSmom -- Can you contact me directly? It's my screenname at aol. I have a bunch stuff I can share with you!!!!! I hope to hear from you soon! Tara
    Tarajnd 3 Replies
    • February 22, 2007
    • 08:19 PM
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  • Tania -- can I somehow get ahold of you?
    Tarajnd 3 Replies
    • February 22, 2007
    • 08:22 PM
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  • Hi,My daughter is three and a half years old and was diagnosed with sacral agenesis last year. She also had a tethered spinal cord which was untethered surgically in December. She has S1, S2 and partial S3. She experiences urinary incontinence and constipation. This has been quite hard to come to terms with but we are thankful it is not life threatening. I was wondering if there was anyone there who's child is similar to mine and how they deal particullary with the urinary incontinence. She goes to the toilet, yet leaks throughout the day. Thanks.
    Anonymous 42789 Replies Flag this Response
  • My daughter is 1 month old and has Caudal Regression Syndrome. She is currently at the NICU and has been there since she was born on Valentine's day. She also had what they called an aortopulmonary window that was repaired 3 weeks ago. So far she's recovering well from that surgery. People have asked me if I knew. I had no idea. We were all surprised. From what I have read, it should have been seen with all the sonograms I had (I had gestational diabetes). But that now is in the past and I know I have to face the present and the future. I have tried reading about this syndrome but I am still at a lost. Tara, you said you had a daughter who had the same condition. I was just wondering, what questions should I be asking the doctors and what should I be expecting and not expecting? :confused: :(
    anxious mother 1 Replies Flag this Response
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  • Hi to all those dealing with Sacral Agenesis aka/Caudal Regression Syndrome. I have a daughter who is almost 6 and is missing her entire lumbar and sacral spine. She is also deaf... unrelated. We adopted her when she was 3 1/2. She was also a premie. This girl is amazing. She is so strong and smart. For the mom wondering about the incontinence, you should be seeing a urologist. Frankly the specialists we see (besides the ones for the hearing issues) are orthopedics, urology and neurosurgery. She has never needed any neurosurgery, but it is a good idea to at least have them seen by one once, to rule out any such issues. If you are near a good children's hospital, i would recommend going there. There is a list for parents of kids with caudal regression and it is quite helpful. I just joined it and wish I'd found it a few years ago. There are kids of all ages and some adults with CRS, too. http://health.groups.yahoo.com/group/caudalregressionsyndrome/Hope that helps. ---Lee mom to 11, 6 at home, 1 by birth, all His and each uniquely designed
    Anonymous 42789 Replies Flag this Response
  • Wow..I must say this is definitely a journey and I'm only 4mths in. I would have never imagined what was to come when I went into labor just 3 weeks shy of my due date. The healthy baby boy we were expecting was a baby girl with a rare disorder found in 1 of every 7500 births_ Caudal Regression Syndrome. I stumbled onto this site while trying to find physicians with the "know how" factor. To Anxious Mom, my prayers are with you. Unlike you, I didn't have gestational diabetes; however, because this condition is common in those kind of pregnancies there should've been additional testing so you could've atleast been prepared. My daughter was able to come home 14 days after birth but I know what the long hours at the hospital are like and the rush to get back to NICU and scrub in so you can feed her. She was transferred to two different hospitals before being discharged. Our stories may vary but our desire is the same_ To provide our children with the best life possible. In reading thru the post I must say I agree with the healthcare worker who suggested it takes a special person(taniaaust1). HE never puts more us then we can bare and thru our trials and tribulations we find out just how strong we are. Parent of Beautiful Baby Girl Ree
    Anonymous 42789 Replies Flag this Response
  • I found this forum through google...i am 17 years old (male) and so flippin' confused. haha. I was told all my life that i have sacral agenesis (sorry about the spelling). I have no tail bone or ankels, all though i can walk (almost) perfectly normal. I dont have any mental dissabilities, as far as i can tell... but thats not the problem...let me say that i can walk because my muscles connected to the spinal bone just above where the tailbone should be, or so i'm told by my parents. Right now i'm just looking for someone to get this message to... who might know a little bit, or even have some legitimate advice that isnt so cliche and is actually helpfull...After looking around i believe i have caudal regression syndrome... I have the bladder and bowel issues, the back problems, and the pain i feel in my feet on a daily basis is enough to make a grown man bawl.i dont mean to brag or anything, ;).I have learned to control the bladder and bowel thing... to an extent..i wore diapers (pull-ups) till i was 13 i believe, i hid it from my friends all my life. I wear boxers and such now, but even still, i cant control it at all times you know?(and i still hide it from all my friends, and have had many girlfriends, none of which have known... which is another thing i wish to talk about with someone...) It's not my fault, but all my life i was told it was... in fact i was grounded 3/4 of the time because of it... when my mom FINALLY realised i couldn't help it she stopped grounding me for it. And we get along well. I just cant talk to her about it, or really anyone in person... it's to much for me to handle hahaI realise this is getting long and i apologize... i just hope SOMEONE will read this and know something... its rediculously frustrating...I've had 3 or 4 surgeries when i was young, i dont even know if the bones in my feet are real... i cannot move them, they are stuck in one position. I walk mostly on my toes... its hard to explain...I can get into more detail and such with someone, but i figure it'd make more sense over email or msn or anything, not in some forum... i'm just lookin for help outside of my parents who dont seem to help much anymore...if you can email or something mine is nomorespam@hotmail.com...i will also look here for a few weeks...
    Anonymous 42789 Replies
    • November 11, 2007
    • 06:27 AM
    • 0
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  • I am 19 weeks pregnant and my child has been diagnosed with sacral agenisis and clubbed feet. I am very scared and dont know what challenges I have coming. If there is anyone who could give me some kind of guidance I would greatly appreciate it. The doctors have suggested termination but I dont know what to do. How bad are the struggles and what will my baby face? How do I know how bad my baby really is? Will my baby ever be able to walk? Will my baby look normal physically because ever since the doctor told me this I have nightmares about my baby really looking deformed?:confused:
    jninna29 1 Replies
    • January 29, 2008
    • 10:21 AM
    • 0
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  • i have a 9year old son who has sacral agenisis who i wouldnt change for the world his toes are crossed over and he still wears nappies .he has what is called a veisacostomy a small hole which he wees from and needs medicen on a weekend to help him move his bowles at school he changes himself he has had quiet alot of operations but he has come through them all and i think his condition has made him the wonderfull little boy he is . i didnt find out about his condition until he was 7 days old and in a way im glad because i proberley would have thought about abortion but he is my world and i couldnt bear the thought of not having him he knows no diffrent so he just gets on with things .he walks and enjoys life to the full and no matter what condition he has hes mine and i couldnt ask for a more wonderful happy child
    Anonymous 42789 Replies Flag this Response
  • My friend's grandson is diagnosed with caudal regression syndrome. He has a deformed bladder and small tubes from the kidneys to the bladder. The medical experts here say there is nothing they can do for him. Are you aware of a medical center that specializes in management/treatment?? Thanks for your input!
    run2483 1 Replies Flag this Response
  • oh i hope the original poster doesnt mind that i really started something off in this thread when i mentioned that my daughter (nearly 18 now.. her birthdays in a week) has caudal regression syndrome. Im sad that I never saw all the replies (going back 2 years since my post on this thread) on this post till now. (i was clearing out my email and saw the unopened email). Im wondering how all you out there who posted (and any others) with children with caudal regression syndrome are going?? my email for anyone with a child too with this who wants to learn more about it. You can contact me at tania_selth@yahoo.co.uk There truely isnt much info out there about this rare illness and most of us learn by experience with our children who have this. There is or at least was.. 3-4 yrs ago.. a group of children (young teens at the time) with caudal regression syndrome who were getting together online to share.. (small peer support group). One of my childs support workers once told her about it but she's since lost the online details to it.
    taniaaust1 2267 Replies Flag this Response
  • ive tried to email cody..but he doesnt have that email address anymore.. message to cody and anyone else interested below. .......... Sacral agenesis as far as i know IS just another name for caudal regression syndrome. You are about the same age as my own child who has this condition..she turns 18 in a week. she shares all the same issues you have (not sure if she gets the pain in her feet but i know she does get pain but she's one to just try to grin and bear it (living all her life with pain has made her highly tollerant to it). "I have the bladder and bowel issues, the back problems, and the paini feel in my feet on a daily basis " and i assume feels just like you, having no one to talk about it with. She too wore "pull ups diapers" until she was 13 yrs old. (she wears pads now). you posted "i wore diapers (pull-ups) till i was 13 i believe, i hid it from my friends all my life. I wear boxers and such now, but even still, i cant control it at all times you know?(and i still hide it from all my friends, and have had many girlfriends, none of which have known" i dont know how my daughter gets on with this issue with relationships.. but it certainly dont stop her from having boyfriends or having sex (she's currently pregnant). It thou isnt an issue she talks to me about.. i assume thou she MUST "leak" at times during sex, thou but obviously some incontience it dont bother her partners. Even in your age group. " I've had 3 or 4 surgeries when i was young, i dont even know if the bones in my feet are real... i cannot move them, they are stuck in one position. I walk mostly on my toes... its hard to explain..." My daughter had her ankles pinned.. the bones there are real but just fused together so they cant move the ankles by pins/rods?. The way hers ended up being pinned causes her to walk more so partly on the outer part of her foot.i completely understand what you are getting at thou going throu the surgeries and the foot correction with plasters and surgery with my child when she was young.
    taniaaust1 2267 Replies Flag this Response
  • I was curious if anyone out there has lost a fetus or newborn with a combination of these three birth defects-tetralogy of fallot, esophageal atresia, and dandy walker syndrome? They say my little guy may have created a new syndrome, because they have had cases of genetic disorders with two of the combined defects, but not all three. All of our genetic and chromosonal testing came back normal on my husband, myself, and our infant. He didn't survive his brain shunt surgery and died 5 days after birth. I am wondering if I am alone in this situation or if anyone else out there had this happen to them as well??? They suggested termination, which we couldn't do, and the farther along in the pregnancy, the better the prognosis became so we were very hopeful. Two brain specialists seemed to disagree on what they saw in neonatal brain mri's, and obviously the one doing the surgery was incorrect. They even disagreed on whether it was dandy walker syndrome because one felt his corpus collosum was fully developed. The surgeon that performed the surgery wouldn't speak with us even after weeks of his passing, and we were torn as to what to do. We never pursued it any further, hoping our healing would go faster. Now 2 years later I still have questions and doubts. Our second son was born perfectly healthy and we are very fortunate. Part of me feels like I could help someone else, and would also like to feel like we aren't alone in this type of birth.my cousins baby had dandy walkers syndrome and they did abort the genetisis said that this condition is hereditary and that if they were going to have any more children they would have to grow them a pea tree dish and test and then implant the embyos later on and she finally just had her first baby boy he is 3 weeks old and doing well but I do not know anyone who has had all three. I am sorry for you loss and hopes this helps
    Anonymous 42789 Replies
    • November 9, 2010
    • 03:04 AM
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