Down Syndrome
Parent Q&A
Archived Q&A and Reviews
- Pediatrician for Newborn w Down Syndrome
- Pediatrician for a baby with Down syndrome
- Conflicted about possible Down Syndrome baby
- Related pages: AFP Prenatal Test and Ultrasound
Pediatrician for Newborn w Down Syndrome
Sept 2008I am helping a friend who is 5 months pregnant. Her baby has Down Syndrome, and she is looking for a good general Pediatrician who has specialized knowledge/experience regarding relevant health issues. She lives in the Concord/Walnut Creek Area. lg
Try Dr. Tracy Trotter in San Ramon. Dr. Trotter has worked with many patients with Down Syndrome. I am sorry I do not have the number. Good luck. Anonymous
I don't have a specific recommend for a pediatrician, but you will probably need to work with a Lactation Consultant. Babies with Downs are usually born with ''low tone'' and have a hard time latching to the breast. I Highly recommend calling Charity Pitcher-Cooper (415-462-8004) in advance of the birth. We had a client with a Downs baby last year. Charity came to her home, gave lots of good information. They went from finger feeding to breast within a month. That baby is almost a year old & still at breast. Deborah S
Pediatrician for a baby with Down syndrome
March 2007My husband and I are expecting our first child in June and recently learned our baby has Down syndrome. Any advice for finding a pediatrician who has worked with babies with developmental disabilities--or is willing to learn--would be welcome. We live in Vallejo and would prefer a doctor close to home, but are also used to driving into Berkeley. Julie
I have a 10 year old son with Down syndrome. His pediatrician is Myles Abbott at East Bay Pediatrics in Berkeley. We LOVE Myles and he has been wonderful to work with. He is not an expert in Down syndrome, but he knows a lot and is willing to learn and explore anything that he isn't familiar with. Most importantly, he is respectful to both me as a parent and my child. Feel free to contact me if you have more questions about Dr. Abbott or about parenting a child with Down syndrome. jennifer
Conflicted about possible Down Syndrome baby
March 2007I am 35 y.o. and 17 wks pregnant, and just received news that my AFP screen came back positive for increased risk for carrying a Down Syndrome baby. I have an amnio scheduled on Monday but the result will take two weeks. When I got the news I was devastated and feared the worst. I have two healthy children (ages 3 and 1) and worry about the emotional and financial strain a disabled child would have on our entire family. I feel I would have to quit my job to care for the child properly, and my husband would have to work longer hours and stay in a unfulfilling higher-paying career in order to provide financially for the special needs and long-term care. I worry about not being able to protect the child from the stares and whispers, and about who would care for the child after our death. Everything I envisioned for myself and our family changed in an instant.
If I knew before becoming pregnant that my third was going to have Downs, I would definitely have stopped at two children. However I have already been feeling kicks and know the fetus is fairly well-developed at this point, and although I am pro- choice I have personal reservations about terminating a pregnancy at 19-20 weeks. I have never had an abortion before. I feel pressure to decide now what we will do when we get the results because we would need to act quickly if we go that route.
My spouse favors terminating the pregnancy if the amnio is positive but would defer to my decision. I just don't know. I think I would feel deep regret either way-- but which would be worse? Any insight from those who have been in this position and went one route or the other would be appreciated. Anxious pregnant momma
Hi, I had a difficult pregnancy and was told my fetus had very elevated risks for numerous things and underwent an amnio. Luckily the amnio showed no chromosomal abnormalities. However, I would have terminated if it had. My feeling is that life will deal you enough unexpected blows and tragedies- why start out with a difficult situation? Especially when you have little trouble conceiving. -anonymous
The AFP has so many false positives! Wait for results from your amnio and try to relax and enjoy in the meanwhile. anon
Hello, Boy, do I feel for you! I went through almost the same thing a few years ago. I was 35 and my AFP came back flagged for DS. I also had an ultrasound that was abnormal and flagged as indicative of DS. I agonized, cried, and prayed, as I imagine you are doing now. After the amnio, we waited and, thanks to G-d, everything was totally fine. What was told to me afterward is that all the stuff prior to the amnio is simply based on statistics. It's not necessarily as personal or specific to you as you would think. Once you're 35, what would be normal for a 25 year old somehow screams 'high-risk' to doctors. They call 35 'advanced maternal age' for goodness sakes!
Think clearly about everyone in you or your partner's extended family. Is there a real hereditary component of Down's? If no one has it, your chances are quite good. For what it's worth, the genetics counselor we saw prior to the amnio admitted she didn't even think I needed the amnio based on her questionnaire, AFP notwithstanding. They get a *lot* of false positives, and you have to check out even the tiniest irregularity.
I get so choked up looking at my amazing child and remembering how I almost made a drastic choice out of fear. Knowing her now, I would regret having had an abortion even if she'd had Downs after all, and make no mistake, I am definitely pro-choice. It's nothing anyone can choose for you, but my advice is to have hope and be stronger than you think you can be.
It makes you a more compassionate person afterward, no matter what. I know that, silly and shallow as it may be, I feel a certain kinship with DS folks and their parents who loved them enough. anon.
I also ''flunked'' the AFP test 7 years ago. Remember the moral conflicts as well as the anxiety about waiting to get to the amnio and beyond. Several things--first, your risk of having a Downs child is still pretty low--my 7 year old daughter is a normal, healthy child, as are her 2 younger siblings. Second, you need to ask the group doing the amnio if they can give you the ''instant'' results''. There is a test you can pay for (most insurance won't) that gives you results within 24 hours v. 2 weeks. As I recall, they take a few cells, spin out the dna, and are able to give almost certain results. This was a life- saver emotionally for me. I cannot imagine what the 2 week wait would have done to me. Finally, I have several acquaintances who have terminated their pregnancies and they seem fine with the decision. Have another friend who opted to keep the baby and they consider her a gift from above. I have two friends who passed AFP; no amnio; delivered Downs babies (both moms 34 yrs. at the time) and for both, it was if a nightmare. So, while scary, I think those of us who fail are lucky to have either advance notice or a false positive, versus those who got false negatives and expected a ''normal'' baby and are surprised by a special needs child. Good luck and hang in there! But please insist on having group who can provide the fast results test. Two weeks during a 40 week pregnancy: an eternity! fellow test flunkee
I could write for a couple of pages here, but i will keep this short. I have 2 wonderful children the second of which is an amazing little 21 month old who has Down syndrome (not a Downs child, a child with Ds). It was a surprise to us as our AFP and U/S were all ''normal''. First, an abnormal AFP does not mean your child has T21 - it's a screening and it gets a lot of false positives and negatives - chances are your baby has 46 chromosomes. Secondly having a child with Ds does not mean you have to quit your job or have huge financial burdens. EI covers most everything you need. I know lots of working moms with kids with Ds. Being pro-choice means having a choice one way or the other. The other day i was thinking i was so glad i didn't have a CVS because i wouldn't know the wonderful person that is my daugther. She is a great addition to our family and not a burden in anyway, in fact she is a gift to us and her siblings. She has changed me (and all of us) in so many positive ways. Instead of stares, she has opened up an entire wonderful community of people to us, and made us closer to people in our lives. There is a true pre-conception and prejudice which i really fell is perpetrated by people who don't know. Ds is not all gloom and doom!!!! Feel free to email me with any questions. archiepug
If you decide to keep the baby, I'd suggest you spend some time around people with downs syndrome, if you haven't already. My older brother is developmentally disabled and so I grew up around people with developmental disabilities including his friends, classmates, co-workers and housemates. I've also worked at a preschool for kids with dev. disabilities and at Creativity Explored, an art center in SF for artists with dev. disabilities (this would be a great place for you to visit and/or its sister organization in Oakland, Creative Growth). Across the board the people I've known with downs syndrome have shared a quality of true sweet-heartedness, some of the most affectionate and genuine people you'll ever come across. I also don't want to romanticize disability and as a sibling, I can tell you that it is a hardship on the family and on some level it can take away from the other kids when you have one who demands so much. But no family is perfect and every person I know can point to some form of disfunction (or at least difference) in their family. I can also say that having had a brother with a disability has made me a more sensitive and compassionate person and for that I am grateful. I am actually closer to my disabled brother now (as adults) than I feel to my non-disabled brother. I can't imagine my life without him. Of course you know yourself and your family and what you are up for. I sympathize with your disappointment and grief at not being given the child you imagined. I think I also would be heartbroken. But I also want to let you know that if you do go through with the pregnancy, you and your family will ultimately be OK and will find the good amidst the challenges. Elizabeth
I am the mom of three wonderful kids, one of which has a genetic disability with many characteristics similar to Down syndrome. We did not know until he was born that there was an issue, so I never faced the decision you are dealing with.
I will start by saying that I absolutely love and adore my son and that this topic (''if you had known what would you have done?'') is one my friends and I discuss from time to time. I'll be honest, if I had known his diagnosis ahead of time I would have aborted. But if I had know what our life would be like today, I don't know what I would have done. It is not an easy decision even this many years later.
My son's disability has definitely changed our lives. The financial and emotional burdens are real and stressful. I don't work, and don't think I could possibly at this time. Having a child with a disability (and two others!) is above all time- consuming. Even when things are going well, I am constantly managing therapies, advocating, dealing with paperwork and insurance, making and going to doctor appointments, etc etc. It is very hard to balance the needs of the other kids, a spouse relationship, and my own needs. I don't feel like I can let up, because the things we do have made a big difference for my child. He really is doing very well, brings us great joy every single day, and most importantly, he is really happy. I am still scared about the future and what lies ahead but not in the panicky way I was when he was born.
I too worried when he was born about the whispers and stares, but for the most part, the community has been incredibly accepting. (I have also gotten good at avoiding or ignoring those that are not!) I have met wonderful people -- therapists, teachers, parents of kids with disabilities (who I now consider almost family), and people in our neighborhood and schools who are compassionate and have embraced us with all of our quirks. My life is more meaningful now and I truly love the people who are in it.
Trust yourself to make the best decision for you and your family. It will be a hard decision either way, and don't hesitate to get help (like from a therapist) to make the decision. Wishing you the best, anonymous
It's really unfortunate that the test to determine some birth defects or situations such as the one you are in, are done so late into a pregnancy ... I can only share the experience of two friends; in high-school, a classmate had a sister with Down's Syndrome and she told us how much the whole family (there were 12 of them) loved this child and how their only concern was that their sister be taken care of in case she outlived them (she was the youngest). Then a friend who was happily expecting her first child, only to have the amnio come back with Down's - she chose to abort - it was very difficult for her and I don't know if you have shared your pregnancy with others yet - she did say she would next time, not say anything because it is such a personal, heartwrenching decision. That said, I don't think anyone who cares about you would judge you one way or the other. anon
I do not have advice to offer on this intensely personal decision, but I recently read a very moving book on this topic which could provide you with input. It narrates the perspective of women who decided to keep their babies. It is not a blanket ''pro-life''/anti-abortion book, but is rather a collection of very poignant personal stories from women who decided to keep their babies (and, I should add, who are happy with their decision). I have no personal agenda in this regard -- and do not know what I would do if faced with this decision. But I just wanted to pass on this resource. Here is an excerpt from the back cover in case you are interested in reading it: ''Defiant Birth'' (Melinda Tankard Reist) tells the courageous stories of women who continued their pregnancies despite intense pressure from doctors, family members and social expectations. These women were told they shouldn't have their babies because of a perceived imperfection in the child, or because their own disabilities do not fit within the parameters of what a mother should be. In the face of silent disapproval and open hostility, they have confronted the stigma of disability and had their children anyway. Some of the writers tell of grave misdiagnosis, other of life-changing experiences, discovering the joy and love in children considered unworthy of life...''The stories of defiance in this book challenge our general notions of what is a 'good' mother, and what makes for a 'happy' baby. They lay bare how simplistic -- even dangerous -- are offers of 'choice' when society limits the childbearing options for women and judges anyone less than 'perfect' as potentially disposable'' -- Dr Abby Lippman, Board Chair of Canadian Women's Health network. ...''This well-documented and compelling account of the pressure faced by women expecting disabled children calls for every child to be welcomed and loved, and deserves to be heeded by a very wide readership.'' -- Allison Davis, UK disability activist, author of ''From Where I Sit'' and founder of No Less Human. Humbled by the Immensity of the ''Choice'' we are Offered.
There is a book about a family in this dilemma. It's called ''Choosing Naia'' and I think it's at the library. I know it's at Amazon. They struggled hard and at times chose termination but they ended up not doing that and had the child, even though they did sometimes panic or despair. I imagine the reflection and research they did would be really helpful to you right now. check it out
Wow- I can sure feel your pain! I went thru a simular situation with the AFP test. First I must say that this test is FULL of false readings. I know from personal experience. My first child had a normal AFP result and guess what- She has Down Syndrome. My second child had a very high indication from the AFP of having Down Syndrome and so I had amnio and guess what-No Down Syndrome. So I have no trust in the AFP whats so ever and amnio is the way to go if you want a accurate picture of what is going on with your baby.
That being said I have to add that my daughter who has Down Syndrome is the light of our lives, she is in high school, has friends, a part time job, loves to dance and swim, is smart and headed for a great future. She has been more ''normal'' than not and has not been any more expensive or demanding than any other child without special needs.
Good luck with your pregnancy. Mary
We were in a similar situation many years ago, but it wasn't Down's. We decided to terminate the pregnancy. I know that will sound horrible to some people reading this, but rest assured it was a very difficult decision. I have mostly told people that the there were problems with the pregnancy and left it at that.
We had a child that was just over a year old at the time. We had our second child about a year and a half after we terminated the pregnancy. I do not regret my decision at all. I would never ever tell a person what to do in this situation, but I am sharing my situation so you know that you will get past this should you decide to terminate the pregnancy. Also, because I don't know you personally, I can't say what your level of grief will be. I was more consumed with it that I thought possible, but after a few months, I knew i had made the right decision and started to moved forward with no regrets.
One last thing, my husband deferred to me as well, which is kind but it also puts a lot of pressure on you. Really discuss this with him and be sure it is a joint decision.
If you go through with the pregnancy, you will need his support in raising a Down's baby. You don't want him bitter because he wanted to terminate the pregnancy. Good luck. Been There
That AFP test should be OUTLAWED! God, I hate that test, I tell everyone I can, do not take it. It gives 99% false positives and sends parents like yourself in a spiraling, emotional freefall. I think half my friends have had a positive on this test and everyone's kids' are fine. I believe the medical establishment gives this out, not caring how many people it messes up because if they can catch that 1%, they hope you will have an abortion, so they won't have to foot the bill for a child that is born. As you can probably guess, this happened to me and if you can, I would try and get in to do an ultrasound, which is probably what they will do before the amnio. It will tell you alot. Down's babies have many physical anomilies that they can see in an ultrasound; less soft spots, shorter limbs, flat back of neck, shorter neck, bigger tongue, heart problems (sometimes), facial features spaced differently. When I went in, the ultrasound person said, ''don't worry, she is fine, normal baby''. That is all they do, sit in that room looking at fetuses and they know when they see something out of the ordinary. God I hate that test, I have friends whose doctors won't give thier patients that test for just the reason you are experiencing, it does so much more harm than good and causes so much anxiety. Please write back and tell us what happens. Hang in There, it's BS
i just want to say first how sorry i am that you have to go through the stress of this situation. but starting with the really good news- i can't tell you how common false positive AFPs are. i had one (i have 3 healthy children), my friend an ob/gyn had it on 2/3 of her children and countless others. so chances are, you are worrying over nothing. especially if you've already had a level II ultrasound. and if you haven't get one today. there are so many signs of a down's affected infant that you can pick up on a scan- nuchal folds, heart defects, wider spaced eyes. the list goes on and on. on the other side. say you get an amnio and it turns out positive for downs. while you are trying to decide now, what to do and it is your every waking thought, wait until you have more info.
my girlfriend lost 2 babies at 20 weeks. while she is fine now, she needed therapy. and now she can care for her other 2 kids without thinking about what could have been. i chose to terminate a pregnancy in december in the first trimester. what i can tell you about my experience was that the week leading up to it and the 2 mos after were torture. i cried constantly. but i saw a therapist and now it's not my every waking thought. do i wonder what could have been? yes. do i obsess about it like i used to? no. i pray that you don't even have to make this decision. i chose what i did because i thought it was in the best interest of my family (hubby plus 3 small kids). if you are carrying a down's baby, and chose to terminate, you'd be doing the same. neither decision is an easy one. one is more short term grief, but the other is longer term care. i have 2 friends with their 2nd child w/ down's and they cannot imagine life without them. but if you do have to make the decision either way, please, please know that there are lots of people out there who will support you. momma to little ones
I had a +AFP during my pregnancy and it was an extremely stressful time. Only after getting the test did I realize how many false positives there were. Did they see any signs on your ultrasound? Odds are sig lower if the ultrasound is clear. Are you meeting with a genetics counselor? I LOVED the one I saw at Kaiser Oakland. Only you can make the decision about when life begins. I'm sorry you have been put through such stress; my prayers are with you and your family. been there
First: Please don't agonize and think so far ahead. The AFP is notorious for producing false positives, especially with mature mothers to be. I have known several women who got a positive AFP and NONE of them had anything turn up on the ammnio and their babies were fine. When I had the AFP, I was repeatedly told that that the AFP does tend to go towards false positives.
2nd: It sounds like you've bonded with your baby-2-be and have doubts about terminating the pregnancy should you get bad news. Don't let yourself get pushed down that road (I fully support reproductive rights but am angered by people who just expect that that's the only sane choice a woman would make)- remeber the adage ''if you don't know, dont''. Whatever choice you make, make sure it's your choice.
3rd: If you can't stop worrying and must imagine the 'worst- case scenario'' -that your child has Downs Syndrome- it may not be nearly as much of a handicap as you think. As backward of a society as we are, people are finally getting the clue that people with Downs Syndrome are not something to be hidden away or ashamed of. Also The level of impairment caused by Downs can vary widely- I'm not saying it's nothing to be concerned about- but it is not this horrible, horrible thing to have. People with downs syndrome are not necessarily burdens at all.
Please contact your doctor and see if there is anyway you can get the ammnio results sooner. I seem to remember there's some fee or something you can arrange to get the lab to get you results in a few days- expensive, but worth it if it will give you the information you need.
Again, the AFP test produces many false positives. Perhaps your healthcare provider could reassure you about how the test is quite often inaccurate.
I hope things work out for you and I hope you'll update us on what happens. Whatever you do, please postpone your worry until after you get the amnio results. Stress is not good for any pregnancy. anonymous
IF your amnio shows a problem you will have decisions to make.
While you are waiting you can spend some time learning about the range of difficulties and disabilities that are associated with Down Syndrome - I spent those days reading message boards on iVillage (at that time) about Down Syndrome, about test results, about anything I could think of that I needed to know.
By the time I had my results (CVS, not amnio) I knew I could keep the baby, and that many Down Syndrome kids live full and loving lives and are precious to their parents and families... while my initial thoughts had been that I couldn't ''do that'' to my other kids. When my results said no chromosomal problems I was even more excited, but I'd already gotten over being panicked.
One of the first things you need to know is that the AFP test is not an indicator -- it is a screen -- As frightening as your result may be, all your AFP says is that they cannot absolutely rule out any possibility of Down Syndrome... the test is designed as an easy way to reassure some parents, but instead it panics many others...
My understanding is that the older the mother the greater the chance of a ''false positive'' (not being screen out, even though there is no problem). I was 44 and my doctor didn't even do the AFP because it would have been positive no matter what.
Good luck, try to be calm, They said it was ''Character Building''
I am so sorry you are going through this. AFPs are notorious for giving false positives. With my first child we had an AFP of ''Greater than 1 in 10'' which is basically the worst results you can get and the amnio and the baby were fine. It was a horrible wait to find out though... Anon
All I can do is advise you as to what I would do if I were in your position...I am the mom of 3, and had the last two when I was over 35. My husband and I agreed completely about what we would do if the tests came out positive for any serious type of birth defect or anomoly--we would end the pregnancy immediately. We already had 2 beautiful, healthy children, and having a child with Down Syndrome was not something either of us wanted. (#3 was normal and healthy too.) Having a severely handicapped child in our extended family, we see how much stress and strain it puts on the parents and everyone who is around. I don't mean to demean anyone who has made the choice to carry to term a child with Down Syndrome, it's just not the choice we would have made. You're right--your entire lives would change, and the future, beyond our own lifetime, is uncertain for children with disabilities. Be very happy with the 2 children you have, and know that you can get pregnant again if you choose to end this pregnancy. Also remember it's very possible the AFP was a false positive! Best of luck. A Berkeley mom of 3
While you will probably get tons of feedback from women who had bad AFP numbers but everything was ''fine'' that was not the case for me. I terminated two pregnancies (one at 18 weeks, one at 13 weeks) for Down syndrome (I was also 37). First off, you can get what are called ''FISH'' results - its about a 48 hour turn around. THey are over 99% accurate. Some insurance companies don't pay for them (maybe a few hundred $ but worth every penny). Second, talk to actual parents of ADULT children with Down Syndrome. I have been fortunate to speak candidly with some and all completely support termination. A young child with Down syndrome is often not that different than a ''normal'' young child. However, a 20+year old is very different. In the case of one friend's, her son never was able to get out of diapers, speak beyond about an 18 month old level and is starting to show signs of Alzhimers (spelling?). She describes her life as very difficult. Whatever path you take it is not an easy one. I would keep the well being of your two children in mind. Mostly, I hope the test was wrong. been there
Dear Friend, Please accept my condolences at this devastating news. I was you ten years ago -- I literally passed the 10th anniversary of my unwished-for abortion two weeks ago. I did have a little cry about it, but I can't say that it's a sorrow that I still carry in the forefront of my consciousness after all these years. It's become just one of many pieces and stories that make up my life.
I always considered myself a bit lucky, in a rueful way, that our child was not only Downs, but had pretty much every troubling feature of ill health that can go along with Downs children. So, we were faced not only with all the issues you raised (including the effect on our first child), but there would have also been surgeries, hospitalizations, and many other medical interventions. So in that sense, our decision was made easier.
As probably everyone who responds to your posting will attest, only you and your husband can make this decision. Please do keep in mind that you can become pregnant again and bring that soul to Earth if that is part of the metaphysical question for you. (I never had a second child, but I was older and there were other factors for me.) Remember that the universe continues to pour love into your being no matter what your decision may be. I wish you peace. Survived and found happiness again
We also had a positive AFP screen when I was 35, and our baby is fine. Most of the positives end up being false positives, especially if you're age 35+. The waiting is awful. There is an option for getting fast results (4 days) from an amnio, please ask about that. older mom
First I want to say how sorry I am that you may be in the position of having to make a very difficult decision. I had many of the same feelings and thoughts that you mentioned in your letter. There is no easy right or wrong decision. Either way you decide, something will be learned, some pain will be created and some pain will be avoided.
I ended my first pregnancy at 20 weeks. I had always thought that I would keep a Down's Syndrome child - but when it happened to me, I surprised myself. After the initial shock of the amnio results (which arrived the day after Christmas) I couldn't sleep and during the quiet of night I asked myself if I thought this child wanted to come into this world in the body I could provide him. I actually thought I heard him tell me it was okay to let him go, and that I didn't need to feel guilty. Of course I question whether this was just my brain giving me what I wanted to hear - but that is how I came to the decision.
I went through an induction at Kaiser Walnut Creek. The nurses were very kind and stayed up talking to me all night. They were not disapproving of my decision, and told me of the many medical problems that most Down's children suffer.
If you choose to end the pregnancy, I don't know if your health plan gives you the option of an induction, but Kaiser does. I thought that I would never have children again, so this was the closest I thought I would come to giving birth so I chose it over an abortion. One unexpected advantage was that I got to hold my child's body after he was stillborn. The memory of holding him is very dear to me. He looked so small and so tiny.
Strangely, it reinforced my belief I had done the right thing, but it also reinforced a deeper understanding that my decision had ended this child's life. Despite how intensely sad I was over his death, I felt quite sure I had done the right thing, and I felt joy at seeing him. That dichotomy still feels so mysterious. I do feel a deeper affinity for & a desire to go and hug Down's children whenever I see them.
One hard part was my family's disapproval and active insensitivity. For example, my sister told me it was wrong, and then called me the following month to tell me all about a high functioning Down's Syndrome child she had met and how perfectly delightful the child was, so loving and loved by her family. Ouch.
Again, my deepest sympathy for your sad news and the decision you may have to make. I wish you the best. Mombo
For years I have worked with children and adults with Down Syndrome, and frankly, they're FUN! Sure, they have ''special needs,'' but people with Down Syndrome are generally very loving and affectionate, and, most likely, this child, if it has Down Syndrome, will enrich your life and the lives of your family in ways that you never would have dreamed! Feel free to email if you want to talk! kevin
I know you will get many many responses telling you how fulfilling it is to raise a child with Down's Syndrome, and I truly believe that it is. I don't have a child with Down's, but I do have a child with special needs, so I just wanted to also lend support to deciding to terminate the pregnancy, should you decide that. It is a horrendous decision to have to make, and I'm sure that if you had the baby he or she would bring you joy and happiness, but there's no doubt that having a disabled child turns your world upside down, challenges your marriage to the hilt (mine failed) and impacts your other children tremendously. All the considerations you've mentioned are legitimate, and if you decide to terminate, I hope you believe that those were valid reasons to do it. That being said, from everything I've read here at BPN, a positive AFP is just as often false as not, and you may have nothing to worry about. Whatever you decide, it will be the right thing for your family. Good luck. a fellow traveler
I have a 2 year old daughter with Down Syndrome. We have been very lucky that she is generally healthy. She is a very happy little girl and has a wonderful quality of life. Children with Down Syndrome are more likely to have heart defects and other conditions so there are no guarantees, but many live very healthy and fulfilling lives. The Down Syndrome Connection of the Bay Area is a great local resource. I also encourage your family members to learn more from others in the community and not rely solely on the advice of doctors. There are some great Instagram accounts which show the positive and sometimes challenging aspects of raising kids with Down Syndrome. Feel free to message me if you'd like more specific information.
Having a child with complex medical needs changes your life completely. We have a son with a rare genetic syndrome and managing his care has become the center of my life. Seeing him suffer and living in constant fear of decline is truly difficult Of course, I love him more than anything in the world and have become a better person because of him, but I am not sure what I would have done if I had known he was going to be affected the way he is. It is a really tough decision, the parents need to consider their ability to devote themselves to taking care of a child with complex medical needs, especially since it will not only affect them, but their older child. What a tough call. Love and prayers to your family. Whatever choice they make will be the right one for them.
My lovely cousin who turned 40 last year has Down syndrome and attended regular school through 3rd grade. She later attended a special needs catholic school and became the first former student on the Board of Directors. She has worked at the school in different capacities for many years. She loves racy lingerie (to the chagrin of her father), dancing, and relatives. She is super helpful at home and what many people consider routine boring chores don’t bother her. I love her so much as do her younger brother and sister and our extended family. Good luck to your family!
I don't have advice on Down syndrome. However, the 95% chance jumped out at me. Assuming this is a wanted pregnancy, I would encourage amniocentesis before termination. The prenatal blood tests are quite accurate at diagnosing Down syndrome but still imperfect (see this article: https://www.nytimes.com/2022/01/01/upshot/pregnancy-birth-genetic-testi…). I think you have to wait until at least 16 weeks to do an amnio, so it would be another month of limbo and stressful uncertainty... But I had an amnio for my (normal) pregnancy and the procedure itself was quick and easy. Good luck.
This is a brutally difficult decision. My moms best friend’s youngest child was born with DS. He didn’t need surgeries, but he had the mental age of a 3-5 year old all his life. He died recently at the age of 64. He lived with them until his 30s, requiring 24/7 care and supervision. They never traveled, could barely go to dinner. Then they started to get too old and he spent part of the week in a special home, then eventually lived there for decades. He hated all change and every step was agonizing and extremely expensive. They did everything in their power to set up a situation such that their older kids did not have to care for him - but they couldn’t. The responsibility eventually became the older kids bc the parents needed care themselves. So each of their family lives and ability to save were pretty compromised too. This was such a brutal situation for the parents to know that their older children were saddled with this, that some major crises occurred that I’m not even going to share. He was a sweet kid, but he grew up and lived for 64 years still being sweet but 100% dependent and was honestly loved but unwanted by everyone - all lovely people - at the end. Its one of the most tragic situations I know of.
Do they live in the Bay area? If so, the Down Syndrome Connection is a great resource to point them to: https://www.dscba.org/
So sorry to hear this! I'll second (or third, or fourth) the recommendation for Down Syndrome Connection of the Bay Area. Their Director of New and Young Family Support is Cathleen Small, who was an amazing resource when my husband and I were told that our child had "more than a 99%" of having DS. Cathleen answered all of our questions honestly and empathetically and never made us feel pressured about what decision we might make. So my first recommendation is that your relatives speak with her, as it is statistically likely that the NIPT result is correct and Cathleen is a great person to talk to about DS outcomes and what it is like to have a child with DS.
As other commenters have said, NIPT is pretty good at detecting DS but it isn't perfect - if they want to be certain about the diagnosis they would need to wait and do an amnio. I don't want to give false hope, but I will say that my husband and I ended up in one of those rare situations where the NIPT did not give us the whole story. As agonizing as the wait was, I was really glad that we did additional prenatal testing, and we ended up with a very happy story in the end. But again, I know that we're in the statistical minority - I'm not trying to say that your family members should assume that the NIPT is wrong. I'm open to sharing more with you or with them if you would like more information, but I strongly recommend that they start by speaking with Cathleen at DSCBA.
They should also look into CVS (Chorionic villus sampling) testing which can be done earlier than an amnio and is just as accurate. I did this with both my pregnancies as I was of "advanced maternal age" at 37 and 39.