Truncus Arteriosus with Increased Risk of down Syndrome

I am also a heart mom! Congenital Heart Defects (CHDs) are the #1 birth defect--1 in 100 birth. Obviously some are more complex than others. We also found out during our 20 week anatomy scan. Many children that are born with DS also have heart defects--I had no idea. Our son has a complex congenital heart defect, but does not have DS. Technology and medical research are amazing! The survival rate for Truncus Arteriosus is pretty high--close to 90%, I believe. I'm not sure if that changes if you mix it with DS. Also, support groups for CHDs and DS are out there and are a wonderful resource!!

I was completely devastated when we got the news. I never thought a baby could form or survive if the heart was imperfect. Boy, I was wrong! Our little guy is missing most of the right side of his heart--he doesn't have a tricuspid valve, pulmonary artery, or right ventricle. He also has a hole in the top of his heart between the right and left atrium. He had 3 palliative open heart surgeries to redirect blood flow, so the left atrium and left ventricle do all of the work--he basically has 1/2 a heart. His first surgery was at 11 days (he was discharged from the hospital at 1 month old). His second surgery was at 6 months (he was in the hospital 5 days--yes, only 5 days after open heart surgery!! ). His 3rd surgery was 8 weeks ago-he is 5 years old. He was discharged after only 9 days in the hospital (his surgery was over 9 hours). He started kindergarten 22 days post-op. AMAZING!

Meet with the pediatric cardiologist. Get a second opinion. (We lived in Kansas City when our little guy was born and we got our first opinion at Children's Mercy in KC and flew to Miami Children's for our second opinion. We had the first two surgeries in KC). Find out who is the "best" at fixing Truncus arteriosus and who is the "best" at working with children with CHDs and DS. We loved our docs in KC, but ended up going to Boston Children's for his 3rd surgery. Boston is #1, Children's Hospital of Philadelphia (CHOP) is #2, and Texas Children's (TCH) is #3 overall.

Feeding issues are common for heart kids. Our little guy was on a feeding tube for 9 months.

Find a support group. Find other parents that have walked miles in your shoes.

We do a lot with the American Heart Association. Jack was the guest of honor last year at the Kansas City Heart and Stroke Ball. They made this short video (6 minutes) for the Ball--it gave people a small glimpse of what Jack has endured.

http://www.youtube.com/watch?v=4JxiO2Oc5Go

HOPE! You have to have HOPE! I would never have imagined Jack would be as 'normal' as he is...

((HUGS)) I'm happy to answer any questions or help you find a support group!

Did you have the MaterniTi 21 test. This will give you your answer about the Down's syndrome. She will not develop it. She either has it or no. My DIL and son just went through the same thing. The new MaterniTi 21 came back neg. you might ask about that.

As far as heart condition, babies do incredibly well with the surgery. They are quite resilient. You really will not know the extent of things until she is born.

You can have the blood results back in about six business days.

Stay off the Internet. It gives you the worse case scenario..

Stay strong and if need be, come back on, we are here for you. Will keep you in my prayers.

My heart aches for you. I found out during my 28th week that my son had severe brain abnormalities so I can certainly relate to the fear and uncertainty you are experiencing. Although I was absolutely terrified for my baby the fear melted away once I delivered him and I was just incredibly grateful to have him. Knowing in advance was a tough burden to bear and I wish I would have just enjoyed my pregnancy because what will be will be. Worrying does not change outcomes. Unlike you however, there was really nothing they could do for my baby. (The doctors recommended a 3rd trimester abortion) I could not do that and I just prayed that my son would not lead a life of suffering.
I really wish I could help you and I will say prayers for your baby girl and you. Just know you are stronger than you may think and you will get through this. Blessings!

Wow, this sounds so stressful. Of course it's right and natural and understandable that you'd be stressed.

I don't have any knowledge or experience of Truncus Arteriosus, so I will leave that part of the question for others.

But I did work for years with children in special ed, and I got to know a lot of kids with Down syndrome. While this is a very diverse population, there is a common thread of sweetness among people with Down syndrome. I don't think there's any group of people who are so consistently warm-hearted and kind. I do not say this to be condescending -- most people with Downs are far ahead of the general population in terms of emotional and perhaps spiritual intelligence. They are the caretakers and the helpers (and, often, the rule-enforcers) in their communities. And many (not all) of the kids with Downs I knew were pretty emotionally resilient. So if your daughter is going to face multiple surgeries, she may be better equipped to bounce back, emotionally, than many other kids.

It sounds like you have a wonderful family, a great doctor, and a beautiful faith. And like you're being emotionally honest with yourself, which speaks really well of you as a person. I'll just close by expressing admiration and wishing you the very best.

I'm confused about the abortion part because that's not legally an option anywhere I know of. This child can live outside your body in another week or so.

Down's syndrome is either there or not there. It was either there or not there at the moment of conception because it's a genetic disorder. It happens in the chromosomes. They don't develop it, they either have it or they don't.

If they saw her face and she didn't have the physical features for it I wonder if this is just one of those false positives that often happen.

If I had this situation I'd pray that her heart was easy to fix and that she'd be able to do the surgeries and come through with no issues.

As for the Down's issue. To me it's a non issue. Kids and adults with Down's are perfectly wonderful people. They are loving and kind and happy. They go to school and learn, just differently, and they hardly ever have to have other problems. They grow up to become parents, have jobs, some even go on in their education. I know of one young woman who did go to college and she got her associates degree in early childhood development so she could get paid more at her full time job in child care. She also has a wonderful son that has no disabilities what so ever.

I have worked in the home of a married couple that one had Down's and the other had mental retardation.

I have worked in the home of a couple with 2 children where he had Down's and she had a normal IQ. Their children were in the gifted program in elementary school.

There are also Down's people that don't do these things. But they are beautiful wonderful people. Of all the developmental disabilities a child can have this one particular one would have to be the least cumbersome. The least restrictive and the one that leaves the most potential for them to still grow up to become successful.

So just concentrate on the heart issue. This is something the docs fix and they're the experts. Listen to them and have hope, hope that your coming child will be a healthy happy little person after their surgery.

I think that you should use the time until your baby is born to shore up the support network you will need. Since you are a person of faith I recommend that you start by talking to the pastor or priest at you church. If you do not have a church yet where you live, find one. Having people that will pray with you and put their trust into the best outcome with you will help with the anxiety (and I say this as a non-religious person).

And not to make this worse for you, but this is a fact as well: you may need financial support for the cost of her care as well, even if you have insurance and many churches will do a great job in shoring up support for parishioners in such difficult situation.

As for your baby's condition: it is rare but treatable. There are varying degrees of truncus arteriosus and even with the advanced ultrasound techniques available today the true extent of the defect will only become clear during surgery. This is something you cannot do anything about and you will just need to wait and see.
The main problem for kids with Down's are the heart issues. Feeding problems due to low muscle tone can easily be remedied with a feeding tube - and while that may prolong her hospital stay, this is not something that should cause you too much concern.

That said I also have to wonder about your prognosis that she has Down Syndrome. Is this from a diagnostic blood test (MaterniT21, Harmony or similar) or from the screening results?
Truncus arteriosus can occur spontaneously (no known reason) but when it is chromosomal it is much more commonly associated with DiGeorge Syndrome than with Down's. This is a mutation (deletion) of part of the Chromosome 22 (Down's is Chromosome 21). I would strongly recommend that you make use of genetic counseling even if you do not intend to terminate the pregnancy. Knowledge is power and you will be a better advocate for your child if you know what you are facing.

Chances are it will all work itself out for best. I will keep you and your baby in my thoughts.
Good luck.

I can't begin to understand the anguish you must be feeling. Hugs to you and prayers for you also, as you struggle with this.

Know, however, that Down's Syndrome is not something that "develops". If your daughter has it, she has it. It is a chromosomal disorder and is present at conception from the way the chromosomes split/divide. It isn't something that will happen as pregnancy progresses. Although, certain physical traits sometimes show up as the baby grows and develops. Certain problems with the chambers of the heart are known to occur at a higher rate in children with Down's Syndrome.

My nephew has Down's, and they took very detailed pictures of his heart during pregnancy, knowing that it is a risk for babies born with Down's. They wanted to have the right specialists present at his birth.

He is a healthy, happy 6 year old, who is is school and who makes everyone around him have brighter days. His face is a reflection of love, and it radiates.

I hope you find the comfort you are seeking, and that the surgeries for your daughter go well.

May God pour out blessings upon your family.

I'm so sorry for your anxiety for the life of your child. It's certainly warranted.
I have a friend with a child with CP and each day for a yr brought a lot of tough situations and not a lot of hope for a "typical" childhood. It was overwhelming. If you try to take everything in at once and do it without including faith, then it is overwhelming.

I'm not saying that with faith, your child will be fine, although its not outside the grace and power of God. I am saying that statistics are just that. Numbers.

I hope you understand about walking by faith. You can't run ahead, but you can prepare for what you can and trust God for the rest. Make room for joy.
If you can't do that get some counseling. You still have 3 kids to keep positive.

My friend learned to take each day as it comes. Her son keeps us grounded and joyful, both. He won 1st place for pitching in our state Special Olympics! He occasionally comes out with saying really funny things at quiet moments. I think it's that way for all families with huge challenges of their family members.

I am so sorry you're going through this. I know it must be very overwhelming and hard to process. I would suggest finding some online support groups for these conditions and getting advice from people who have been through it. They'll be able to tell you so much more what it's like and how to handle it emotionally.

It is also very common for children with Down Syndrome to have heart conditions. If you find a support group (even an online one) for families dealing with DS, you can probably get a lot of information about heart conditions and surgeries.

Treasure every moment with your precious daughter. Whether she lives 6, 10 or 60 years, just remember that every day is special. Give her all your love.

Finally, remember to stay involved with your other children too. You'll be spending a lot of time at the hospital while the baby is in the NICU and during her first months (and years) at home, but remember to make all of your children feel just as important.

Sending you hugs and good wishes for your daughter.

I am sorry that you and your family are going through this. I so not have any advice, but want to say that you are a very strong person and I am glad you are keeping your child.

I do not know why children are born with conditions that make their lives difficult, but I do believe that God places them with the very best parents for that situation. This won't make it easier, I know, but I do truly believe it.

You said that you do not have family close by, but do you have a church family to lean on? Accept whatever help is offered. There will be plenty of times to be strong on your own. Allow others to help whenever possible.

I will be praying for you and your family.

Mama, I don't have any advice, but my heart is heavy for you and your family right now. That is a very overwhelming situation, but what a lucky family (and new daughter) to have you as their mother! You're a pillar of strength.

One day at a time. Sending you strength and hugs.

Get in touch with Mended Little Hearts or Little Hearts. (Do a web search.) Both organizations provide support groups for families who have or are expecting a child with a congenital heart defect. Both are great organizations. One of my best friends is a CHD survivor. She was basically born with just three chambers in her heart. I also have two coworkers who have children who were born with CHDs. They can do amazing things with heart surgery now. Don't read the case studies. Case studies are usually done on patients with unusual conditions.

As far as Down Syndrome, the blood test may not be conclusive. My understanding is that it is not always reliable. If you have the test close to the beginning or end of the "window" when it can be given there are more chances for error. I was told with my daughter that we had something like a 1 in 26 chance that she would have Down Syndrome. The geneticist we saw put it in terms that if we had 26 babies, one MIGHT have Down Syndrome. Our daughter was not born with Down Syndrome.

I have worked with people with Down Syndrome of all ages off and on for 25 years. Yes, their are challenges that come with it. But the life expectancy for Down Syndrome has grown greatly. One of the men I worked with died a couple of years ago at the age of 70. Another girl that I worked with has traveled all over the world competing in Special Olympics. I know many people with Down Syndrome who have jobs, live in group homes and have more social life than I do!

Get in touch with the Down Syndrome Society. They have a wealth of information that can help you.

God bless you!