Down Syndrome a Second Time Around: Two Pregnancies and Two Down Syndrome Diagnoses

According to the statistics, 1 in approximately 700 pregnancies is affected by an extra 21st chromosome, this results in a child having what is more commonly known as Down Syndrome.  It is rare, and even rarer still for a family to have not one, but two birth children who both have an extra chromosome.  Contrary to popular opinion on the matter, Down Syndrome, standard Trisomy 21 is not hereditary.  There is one form of Down syndrome that can be (translocation) but it occurs in less than 2% of all Down Syndrome diagnoses and it was not the case for Teresa and her beautiful boys.  Teresa had two pregnancies and two Down syndrome Diagnoses.  She hit the lottery, twice.

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With James’s diagnosis, he had some markers on his 20 week anatomy scan: a bright spot on his intestines and his nuchal fold was thicker. I don’t remember the actual number. This was on a Friday, and my OBGYN referred us to the local hospital for a more detailed level 2 ultrasound. The hospital called later that day to schedule us for Tuesday. In the meantime, we had done some research to see what these markers could mean. I found that there was a blood test, a non-invasive prenatal screen, that was pretty accurate and didn’t pose a miscarriage risk to the baby. I had already decided I didn’t want an amniocentesis, so we decided to ask if this test was available. The waiting for the results was the worst part.

With Ben’s diagnosis, we got the test again but really only to find out the gender sooner. Since I was “high risk” the NIPS would be covered. We really weren’t even worried about Down syndrome or anything.

I had the genetic counselor call my husband. Since I wasn’t sure where I would be when they called, I didn’t want to be at work and get upset. So the GC told my husband the results were positive and asked if we had any questions. We said no, since we had already been doing research while we were waiting for the test results.

With Ben, my OBGYN’s PA had called. She presented the news very neutrally, not especially grave or not especially excited. Pretty straight forward. She said they liked to send us back to the hospital to discuss further testing, but I said “I already have a son with Down syndrome, and I already know I don’t want an amnio. I honestly don’t think they can tell me anything I don’t already know. Is it okay if I just skip it?”

She said, “Oh, sure! We’ll see you and your next appointment.”

My initial reaction hearIng James’s diagnosis was bursting into tears, and getting a nosebleed! I felt really guilty and sad and like the worst thing that could have happened had happened. Which, looking back, is so foreign to me now. It was our fifth wedding anniversary and we were planning to go out to dinner. I didn’t feel like going out after getting the test results, but my husband insisted that we go, because we didn’t want to look back on that night and regret not going. I’m really glad we went.

With Ben, I was shocked for about, oh, a half hour, maybe an hour.  Not out of fear, but astonishment because seriously, what were the odds? We had known a lot of Ds families that went on to have other kids without Ds, so it really wasn’t on our radar. But I didn’t cry, I didn’t feel guilty.

My first fear was, what if I don’t bond with my son because he won’t look like me? Looking back, it was such a silly fear, even though I know it’s a common one. It just showed how little I knew and the misconceptions out there. I thought our life from then on was going to be full of nothing but doctors’ appointments and my son being “sick.” I thought I’d wake up every morning with this cloud over my head, and my first thought every morning would be “my son has Down syndrome.” And for the first few weeks of my pregnancy, it was like that. But now, my first thought is, how do I have a kid who wakes up so happy in the morning?  He certainly didn’t get that from me or my husband!

Personally, I’m glad I knew beforehand. This was my first child, and when he was born, he needed oxygen and was jaundiced and had a tongue tie. None of these things turned out to be serious, but I think if I heard heard these things and then “Oh, and we think he might have Down syndrome,” I would have lost it. As it was, I felt I was as prepared as I could have been when James was born. That was the only reason I wanted to know- to prepare myself as much as possible. It was never a question of whether or not he was wanted.

If we didn’t have the prenatal diagnosis with Ben and we got a birth diagnosis, I think I would have been fine. Surprised, yes, but overall fine.

We didn’t know anyone before James’s diagnosis who had Ds.

I was afraid of what others’ reactions would be. My husband and I had waited a little while to tell extended family, because we wanted to know more and be more okay with the diagnosis before we shared it with others.

With Ben, I needed an emergency c-section because his heart rate and oxygen levels dropped when I pushed. It was scary for me, but once he was out, he was fine.

My husband was very “Look, we can do this” after the initial reaction. With the second diagnosis, he just said, “Well, here we go again!”

It’s hard to say how having a child with Ds affected our relationship compared to a typical child, because this was our first pregnancy, but I think it helped us develop a very “we’re a team” approach to things.

It wasn’t really until Ben was born that I stopped “seeing” Down syndrome. I mean, after a short while, it wasn’t the first thing I thought when I saw James. It was there, but it was just a part of the other things about him. Now, I really don’t see it at all. I often forget that Ben has it.

• At the time, I would have described myself as being devastated. I thought the worst thing that could have happened had happened. I just kept thinking about institutions and constant doctors’ appointments. It’s so weird, now, to look back on that time, because I’m in such a different place now. It’s like I’m on the banks of a river and looking over at the old me; I can see what it was like, but I’m no longer there.

 

Friends and family were supportive, and really, I didn’t know what to expect at all.  My husband had the idea of writing a letter to announce the diagnosis, which we sent to all our close extended relatives.  We wanted to let everyone know we were ok with it, and that it was ok to ask us questions.  Everyone responded very positively to that.

 

In some ways, I’m more assertive when it comes to standing up for my kids. I think I’m more patient and I try to understand where people are coming from more.

 

James is three years old and Ben is four months.

 

Teresa lives with her husband, Ryan, two sons and three cats. Both of her sons have Down syndrome. She’s on her local Down syndrome association board, and wants to reach out to new and expectant moms.