Ds diagnosis...when and how?

[jelanismom]

I wanted to start this thread after the awesome news of the passing bill. Thankyou Wrblack

I'm interested in knowing how the information was given to you that your child has Ds. If the prenatal tests you agreed to gave you the first knowledge of the possibility of Ds, then did you receive info from genetic counselors prior to the birth? Or like me did you have the prenatal tests and they came back positive and nothing more was given until the birth at which time chromosome testing was done and then the diagnosis on a piece of "paper" about Ds was given to you? Did the doctors/hospital delivering your child give you referrals or Ds information after the chromosome testing revealed Ds? Or had you refused the prenatal testing and once your angel was born then you knew? Were you given assistance with agencies to provide you support? Or were you left in the dark wondering about Ds and doing your own homework? I had to do my homework.

When my son was born he was critically ill and in the Nicu for 3 months struggling to survive. He weighed 1 lb 6 oz. Within the first 3 weeks the doctors wanted to run a chromosome test for Down syndrome. So on New Years Eve as my son was struggling to live, I sat by his isolet in the Nicu and a doctor walked up to me and asked me to follow him. I was taken into a separate room with the doctor and a nurse carrying a tissue box. As the three of us sat there in this room, the doctor announced the results and I listened and asked a couple questions about Ds, but all I was given was a piece of paper about what Ds is. I received nothing else. But it would have been really nice to have received a packet of information instead of a purple photocopied piece of paper. I didn't have a car at this time and I remember leaving the hospital, leaving my son and spending the long bus ride home on New Years eve with this purple piece paper, which I still have. I read it a million times and even slept next to it. It was all the information I had about Ds, and I didn't even have a computer. But more importantly was that my son survive, and I visited him every day during those 3 months, but not once was I given anything more than that purple paper. Now I had already known from prenatal testing that he Ds, so I had prepared myself mentally. I made calls to NDSS and NADS and received packets in the mail about Ds. These packets were more helpful than the info from the very doctors keeping my son alive.

ETA.. A social worker at the hospital did make sure (before I took my son home) to give me a form with two agency phone numbers I could call (regional centers) but I didn't know what that was actually for. I didn't know what "early intervention" even meant till the agency came to do an in home assessment on my son. The ball got rolling with therapies after that, once I got assigned a case worker. In a way it was easier for me to learn on my own and enjoy bringing my son home for the first time, but I felt in the dark w/o receiving clearcut information at the start and I had to do research myself about my son's diagnosis.

I'm so happy this bill passed and I pray it will open the eyes of the medical communities and that they provide updated information that will be given to new parents, instead of a purple piece of paper!

[Emilysmom]

Dawn,
I had the AFP test early in my pregnancy with Emily and was told the results were normal. Nothing showed up in any ultrasound until the very end of the pregnancy, but ultrasounds back then weren't as detailed as they are now. About 3 weeks before her birth, (because of an intestinal defect that was found on an ultrasound) I had what was called a "PUBS" (peri umbilical blood sampling), where they used an ultrasound to locate Emily's cord and drew a sample of her blood directly from that. We were told it would take 48 hours to get the results and that we'd be notified on Monday morning. We waited until nearly 5pm on Monday and still no call from the doc. When we finally gave up and called him, we were told that the lab messed up the test and it would have to start again with more of the same blood they already had (whew! I wouldn't have wanted to go through that again, since it made me have contractions for hours afterward). The next day around noon, the doctor called and both my husband and I got on the phone. He said "I'm sorry to inform you that your baby does, in fact, have Down syndrome. We tested ------- cells (I can't remember how many he said now) and all of them were positive for Ds". I remember asking him something about whether or not he could tell how "severe" it was and him saying something like "there is no way to tell, but we'll get you hooked up with Early Intervention after she is born and that will really help her".

We didn't wait for her to be born. We heard about TN Early Intervention System and called the 800 number, and that started the whole process. I had already met with the intake coordinator before Emily's birth, although I have to admit that I kept having this nagging feeling that the doc had been wrong about the diagnosis, and that we'd later have to call and apologize for not needing Early Intervention. I don't know if that was sort of my way of adjusting slowly to the diagnosis or what! The doctor did not recommend any books. But, in less than a week after we got the news, DH's sister had already mailed us the "Babies with Ds" book and I had read it from cover to cover. A friend from church had an acquaintance whose 17 yr old daughter had Ds, so she gave me that mom's name and I called her. We talked so often in the weeks before Emily's birth, as well as afterward. She was SO good about never acting like any of my questions were silly, and she had such a positive attitude...........that helped so much! While Emily was in the hospital for 10 days after her birth, no one at the hospital gave me any info about Ds; except for one very kind nurse who brought some literature about breastfeeding a baby with Ds. She said she knew I would likely have nurses and others who would tell me that babies with Ds were not good nursers, and that she would help me to successfully breastfeed Emily if I needed help. That really was the single most helpful piece of info I got!

After Emily left the hospital, the doctor suggested that we schedule an appointment at the genetics clinic, so we did. We didn't really get much in the way of helpful info at that appointment either. The geneticist asked us if we were "related in any other way besides marriage". He did discuss with us what our chances would be of having another baby with Ds, but I don't think we paid careful attention because we had decided that Emily would need so much of our attention and we wouldn't try for another baby. (LOL Jordan had other ideas!)

I know that's probably way tooo much info, but that's our story!

Susan

[Kristin]

I had been told since I was 13 that I'd have trouble getting pregnant, so by the time I was diagnosed with my pregnancy, I was 5 months along! Thus, all of the prenatal tests were missed. The Friday before I went into labor, the baby started failing kick counts/reactivity tests. She'd react, but not enough. They ran a special ultrasound checking cord blood, and brain waves. Evidently there was an anomaly in the baby's brain wave pattern. The nurses were quietly discussing it among themselves, but said the doctor would discuss it with me Monday. No one would speculate as to the cause. Sunday, my daughter was born. My labor nurse turned out to be one of the two nurses that had been working on the ultrasound two days before. She immediately sent for the neonatologist. I asked what was wrong, and she said she couldn't say. I asked for a hint, she said "chromosome" and I said "Down Syndrome". She confirmed this, and started answering our questions about how she could tell. She pointed out the eyes, moon face, toe gap, and ragdoll muscles. Since this was our first child, we had not noticed any of this. Obviously, she'd had some knowledge or training. They handed my daughter to me and told me she probably had a hole in her heart. Scaring me to death, I handed my daughter to them and asked them to take care of her. (They neglected to tell me she was not going to die in my arms at any minute.) The staff thought I was rejecting her. My daughter spent the next 10 days in the NICU being fed and working on stabilizing her body temperature. They sent in a social worker who kept telling me things were't so bad, that I needed to grieve the loss of the perfect child, and handed me a stack of small pamphlets, the number of someone in the local support group and left me alone. I was grateful that they did my checkout/baby care seminar privately in my room, sparing my needing to sit with all of the other moms.
Upon returning home, a friend of mine with a special non-DS needs child, brought me a basket and in it was the Babies with Down Syndrome book. My husband filled my lap with internet resources for me to read through. A nurse at my church urged me to call the regional center, and when my daughter turned 6 weeks old, early intervention started.
My pediatrician uses me as a resource for her DS patients. She calls me when she gets a new baby with DS and requests permission to give out my number, which I happily grant. My greatest resource was the first early intervention teacher. She taught me how to be an advocate for my baby, as well as how to do most of the early intervention exercises.

[twinsplusone]

I also had the AFP test done, which came back positive. So I had an amnio done, just to be sure. I think the worst part was that my OB kept reminding me how hard it could be and that I still had the option to not have my baby - ugghhh. From the medical field, that was all that was offered to me.

Fortunately, for us, my husband works for a family that has a 9 yr old (about 11 now I guess) daughter with DS and we were able to "drill" her for info. I immediately started doing a ton (too much really) of research and just hoped for the best. I called our local Regional Center to get information and to "get on the schedule". They said that was the first time that had ever gotten a call from a parent-to-be, and that the hospital would send them a referral as soon as the baby was born. They did send me some information after my call, not specifically about DS, but about their services in general.

Our daughter is now 16 months old and absolutely amazing. She has 32 month old brother/sister twins, that are much more "chalenging" than she is.

[tiffany]

This is very interesting to read everyones stories! We found out about our Leah's diagnosis when I went in for a routine ultrasound. She had a thick neck, nothing else. We oppted to have an amnio because they thought she had a blood disorder that if found in utero could be fixed. We found out it was Ds 2 very long weeks later. I was releived! I thought it was going to be something much worse. We were offered an abortion,even though we live in a very conservative state. I was shocked and hurt! Then we were shown a book with some horrific pictures of people with Ds. We were given some copies of info and that was about it. I had to search for info on my own. I was scared, until the moment I layed eyes on our beautiful daughter! She was nothing like the pics the doc had shown us. She was absolutely the most adorable child! I cant imagine life without her!

[Chris too]

Wow Tiffany, I think I would have lost all self-control if someone had shown me such a book - I would have read them the riot act.

I turned down the testing bc I'm a worrier & would never abort. No good could come of foreknowledge in my case We had a very poor ob when I was pregnant with Stevie because my ob had retired. I missed him very much for this one. He always had measured me - same exact moves each time to ensure the greatest accuracy - always had palpated my abdomen ("yep, head over here, small parts here") before using the dopler to hear the heart; never gave up with the dopler until he had a good chance to listen to not only the pulse, but the character of the beat - once ordering an ultrasound because he couldn't get a good one on my 10.5-months gestation daughter. He was careful, systematic, and steady. The type that would calm you in an emergency with his competency & steady words. But the new one was flighty, lazy, and arrogant. She never once measured me; she never once even touched my abdomen; she said "huh" when I expressed concern over my blood pressure; she had not a single clue that Stevie was extremely small for gestation except at the mid-term US and then never checked up on it.

When Stevie was born, the ob looked confused for a minute. I mentioned that the cord was extremely narrow & was that okay (remember I'd seen 5 cords up close & personal prior to this); I mentioned that she was much smaller than any of my other babies - "is she okay?" Doc just said that she was small, so that a small umbilical was to be expected. She worried over a decision about a tear - whether to stitch or not - stitched a couple of stitches, cleaned up the area & walked out of the room. I never saw her again - never. Someone else checked me out of the hospital. She left that practice & I saw someone else for my postnatal check.

Our pediatrician, otoh was a knight in shining armor. Stevie was born at something like 1AM on a Saturday night, so we didn't see him until after church on Sunday. When he saw her, he was so tender, so thorough, so careful to be certain of each detail. He has huge hands & could almost hold her whole body in one of them. Then he came over to my bedside. He started with "I'm sure that they have told you..." but I interrupted him. "No. No one has said a word. But I know." He told me that he expected that she had Ds, why he thought so, the good news that her heart sounded whole & strong, and was pleased to hear that she'd already been breastfeeding & doing well. He told me that he'd found that when a child with special needs was born into a family such as mine, that God had already done the groundwork to prepare the way for the child. He said that he was certain that this was the case for us. He said that Stefanie would be well-blessed by her many siblings & be motivated by them to excell. He used her name. He had tears in his eyes - this great giant of a man.

Information, as usual, I got on my own. I'm good at that & my doctors all know it. They are always happy to discuss what I have found & offer their insights, but they don't often bother to provide me with much information. I would have been very glad indeed to have received a load of informative documents at that time. I had my bit of a cry over what would likely never be for my little girl, and then we got to work.

[Googsmom aka Jennifer]

Great thread Dawn As we all know I was dealing w/ cancer durring my pregnancy. The doc called me on the phone one day. I think I was almost 5 months prego and said Brook had Ds. OK, and.... I needed to go to Doernbeckers to have a "super" ultra sound to check her heart. THAT freeked me out!!! Hubby and I went up a couple days later and got some neet pic's of Brooker. Also we talked to a genetic lady who asked some of the goofiest questions. That made me sick. I walked out w/ my pic of Brooker and never thought about it again, the Ds that is. As long as her heart looked good all else was just gravy. I got a new doc b/c the one I was seeing wasn't comfortable w/ a special pregnancy mixed w/ cancer in my uterus and cervex. The new doc was the coolest lady. I started having US at 7-8 months every other day almost. Brook thought her ambilical cord was some fancy necklass. Wrapped around her neck twice and then around her foot so everytime she moved it would tighten a bit. Freeked me out.
On April 27 I got up for work. All seemed well. Tummy didn't hurt, felt fine really. Went tinkle and there was blood. Oh crap. I wasn't schedualed for my c-section for another week. Hubby rushed me to the hosp where my sister and sister in law were waiting. I was dialated a 6 and her foot was almost out. My sister was bbysitting Mary's little brother so she couldn't go in the delivery room w/ me so my s-i-l went w/ me. Hubby was freeking out. Less than a 1/2 hour from when i walked in the door I was in delivery. They took Brook away to clean her up and brought her to me. About an hour later she turned purple. I called for the nurse. They took her away. I wanted out of that bed so badly but couldn't move my legs. About 45 minutes later this is what I saw

My precious angel on life support. I freeked out again. They said they were taking her to Doernbeckers to save her life. She wasn't breathing well, her temp was very low and she has a hole in her heart. For the next few minutes all was blank. Hubby left w/ Brooker. I was all alone Mary and her other mom showed up soon thereafter and mary stayed w/ me for the next few days, 24/7. The hosp was good to us. they let Mary eat them out of house and home for free and they kept me "sedated" as to not freek out any more that I already was. Hubby would call a few times a day w/ updates. He never left Brooks side. I think day 3 or 4 they finally let me out of my hosp to go see Brook. She had just come off life support the day before. Hubby said he begged them to move her from picu to nicu before i got there. They did. Everyone at Doernbecker was so nice. They gave me armfulls of stuff. Prepared me for taking her home. I kept asking them how could they send her home w/ a hole in her heart. They assured me she would be fine. A couple ays later they sent us on our way home. I was so nervous. Not b/c of her having Ds, but b/c of her heart and her temp. Ds was the least of my worries. Everyone came over and gussed at the beautiful baby we had. Everyone wanted to hold her and cuddle. NO way I said. She is very fragile I thought in my head. If i'd only known then what i know now. She is a fighter. She was ok and i'm sure once i finally put her down and wasn't carring her in my arms she says to herself "that crazy momma carring me all around, put me down" LOL 2 1/2 years later Brook is my world. She is my insparation. She is my life. I get to wake up every morning and thank God for my precious gift. I love The Brookster!!!!

[CC]

Christopher was born in 1992 and although I had a gut feeling the whole time he would have DS BUT I turned down the amino (sp?)

We found out Chris had DS a little after he was born.

Honestly from the stories I have heard over the years we were very lucky to have the OBGYN Docs we had and to this day still have. They were the kindest most loving giving Colin and I the news.

We were given lots of info, talked about all the options available and given the phone number to connect with early intervention. I was also given a Mom contact phone number to use when I was ready to use.

I really can't complain at all how I was told or the info I was given.

Honestly lots of the info I chose not to read right away and to this day I was glad I didn't.

My Docs called me lots and to this day they show so much interest in how Chris is doing.

Chris had heart issues from the get go and 15 years later we are still with the same heart Doc. I am sad we still need the Ped Heart Doc BUT he has been GREAT from day one and 15 years later we still feel the same way.

As I already said, we feel very lucky with the Docs we have had.

I actually one day asked my OBGYN guys why since they delivered both my kids why they remember Chris so much. They told me they LOVE being part of bringing babies into this world and feel a connection and when one is born with special needs they just feel more of an emotional connection.

To this day when I visit them, first thing they want to know is what Chris is up to now ;D

CC ~

[laurasmom]

I was 29 when I had Laura. I had one routine ultrasound early on, no markers seen. My doc offered prenatal testing, I declined. I just didn't want it. I didn't think of DS, or anything else, I was just happy to be pregnant. I didn't have any trouble conceiving, just was happy to have conceived, as I had a couple of friends that had difficulty conceiving, and I knew what they had been through, and was very grateful to not experience that.

Laura was born at about 8:45 pm. She was taken to the nursery, they told me she was fine, just coughing a lot, and the neonatologist was seeing her. Still not worried.

The neonatologist came to see Mike and I. He first told us about Laura's TEF (tracheo esophageal fistula), he explained all of that, the treatment, the fact that she was being transferred to another hospital for evaluation for her surgery. After he finished with that, he paused, and asked "Have you ever heard of Down Syndrome?" I said yes, but just a little. He went on to explain what Down Syndrome was, not with totally glowing terms, but also not horribly negative. He then said that he suspected Laura had DS, and that blood tests were being done to confirm. He told us about the physical markers that he saw that made him suspicious. He asked if we had any question, and of course, we didn't. Laura was transferred to USA Children's and Women's Hospital shortly after. (After she had managed to pull out 4 NG tubes, they finally had to suture one it to keep it in).

Our ob-gyn was back in early the next morning (he had to leave shortly after delivery to go to another hospital for another delivery). He spent some time with us, gave us a little printed information. Not out of date, just very limited. Our pediatrician came in next. He was wonderful!! Brought recent, up to date info. Talked about early intervention, and that she would start this after she was recovered from surgery. He basically told us the TEF issues had to be repaired first, then, when she was recovered from that, we could focus on the DS issues. That was great advice for us, and turned out to be the right thing for us to do. She came home at 17 days of age, but was on "house arrest" for the next 5 weeks while her incision healed (they had to reopen her incision due to infection, let it heal from the inside out). After the house arrest was over, I just had to make one phone call as our pediatrician had already set up everything with early intervention.
We did see a social worker while Laura was in the hospital, very briefly. She left us contact information if we needed her, and was gone.
We saw a geneticist, he gave us the results of Laura's karyotype. He explained the difference between the types of DS, told us Laura had T21, told us the chances of having another child with DS, and asked if we had any questions. As he was leaving the room, he turned and said "stick with the early intervention, pay attention, do as they say, and you will be amazed at what your daughter accomplishes". Pretty good advice.
We were put in contact with another mom with a son with DS while Laura was in the hospital, by the NICU nurses.
As for printed material, we were pretty much on our own. We had received some information, not a lot. We pretty much just fumbled around and found some books to read. The early intervention program did give us some information, just still not in depth info (by my standards).

As I look back at the pics from that time, and think back, all in all our experience was pretty smooth, and pretty positive. I give a lot of credit for that to our pediatrician, who was open, honest and basically wonderful. Second on our appreciation list was our neonatologist, who really did a good job of breaking the news to us.

Sharon

[Connie]

I was 32 when I had Collin and we had no idea that he was going to be born chromsomally enhanced. I was offered testing but declined it all because this was my 3rd child, I didn't drink, didn't smoke and was under 35 plus I wouldn't have done terminated if I found out anything was wrong, I would have just worried.

At 20 weeks we had an ultra sound, I remember laying on the table asking the tech if she had ever discovered anything like spinabifida or Down syndrome while doing a screen and she said NO and just went on. I was told there were no markers shown but they sent me a copy of the report and it suggested a follow up ultrasound due to a renal pelvicie (sp). The doctor wasn't worried so we just went on.

At 25 weeks Collin's heart rate dropped and never got up over 110 for the rest of the pregnancy. You could tell this puzzled my doctor but he wasn't concerned.

Collin was my doctors last scheduled delivery, before he left private practice to work in the ER at our local hospital on February 1st. So, on Monday the 31st while in his office he TRIED to break my water (long story short the doctor was a friend and My FIL is a doctor and does not believe in induction. The baby will come when its ready) so that we could make sure he delivered Collin. Collin was so far down that he could not break my water but said he thought he put a couple nicks in it and to go home for a while and come in when I started leaking.

I didn't start leaking until the next day...an it was only enough to make me think I was peeing my pants by I had started cramping. I called the doctor and he told me to come on into the hospital. When I got there I had to check in again (I don't get why we preregister ) While waiting there was a young man with Down Syndrome helping Valet park and my husband asked "I wonder what that would be like?" I told him I didn't know and didn't have time to think about it because I was starting to have good contractions.

They wheeled my up to my room and determined that no I wasn't peeing my pants but I was leaking amniotic fluid and tried to break my water again...still no success. While waiting for things to progress, my husband started acting like a normal man and started flipping channels on the tv. He stopped on Maury Povich "Our Special Children" and he was talking to all these parents of kids with special needs....it was amazing.

While I didn't have any medical tests to confirm DS...I did have a lot of GOD signs!!!

Collin was born 4 hours later. They laid him on my chest, I looked into his eyes and immediately knew he had Down Syndrome. I didn't mention it because I felt if no one else was mentioning it I must be wrong. They took him to the warmer to clean him up, weigh and measure him, my doctor WALKED away from me to go see him and this is was when I knew my suspicions were right. This doctor had delivered my other 2 boys and he always left the care of the baby to the nurse and took care of me. I remember asking him if my baby was ok and he responded "He's going to be just fine"

Within 2 hours they wheeled me out of my LDR room into the old, unremodeled part of the hospital. It was funny because while I knew something was different about my baby I also noticed the nurses were scared to death of me....they never came to check me for the rest of the evening.

Early the next morning my husband left to go take a shower and see the other 2 boys. My doctor came in (right after he left) and sat on the end of my bed and said "Connie...." I interrupted him and told him I already knew that my baby had Down syndrome. He asked me how I knew....I told him it was a mother thing and we sat and cried together. He was wonderful!! He was very positive, answered all my questions, called specialists in from Indy to check on the baby went out of his way for us!! He even called my FIL and asked him not to say anything to me because he wanted to be the one to tell me.

The hospital on the other hand is a different story. Besides not checking on me, when I asked for information they brought me a pamphlet from 1953 on breastfeeding your baby with Down syndrome and and old medical book. They had no current information at all. While I was supported in my decision to breastfeed they did not encourage me...told me all the reasons it would be so hard for him to nurse.

I wouldn't change my doctor experience for the world....the hospitals and nurses really need help!!!

Collin's diagnosis of T21 was officially confirmed two weeks after we left the hospital. I didn't have anyone explain the types of DS or anything to me. But, then again I had found out everything I needed to know (plus more) from the internet.

Oh, one more thing my doctor was right. Collin is just FINE!!!

Connie

[Evans Dad]

Amnio at 30wks, due to the heart condition noticed on ultrasound. Since Evan's heart condition was synonomous with other more serious genetic defects it was done to define which one Evan had. It was still our decision, we are about 2 have #2 tomorrow (wed 10/1) and we have not done any testing except the routine ultrasounds - we know it is a boy, and from what we have seen on ultrasound everything looks good.

[jessjetland]

I was just over 26 weeks and Ds was confirmed by amnio. Was told that termination was still an option!!!!!!!!! First words out of the doctors mouth!!!!!! Termination my butt!!!! He could have lived had he been born then.
Still ticks me off
Jess