Month: October 2018

“And suddenly you’re finding out the facts of life are all about you”
– Facts Of Life theme song

These are some facts of Brighton’s life. I’ll be posting a series of 4 blogs about this throughout October because…

We spent most of our time and energy during Brighton’s first 12-14 months just trying to 1) get him home from the NICU and 2) keep him home and healthy. We didn’t do much research or dive too deep into what Down syndrome is. Honestly, as I was compiling these facts I learned even more that I didn’t know. It will always be a learning process. I hope some of these facts are interesting to you or open the door to further discussion. I’m always open to some conversation so ask away! Welcome to Down syndrome awareness month!

From the NDSS website: “In every cell in the human body there is a nucleus, where genetic material is stored in genes. Genes carry the codes responsible for all of our inherited traits and are grouped along rod-like structures called chromosomes. Typically, the nucleus of each cell contains 23 pairs of chromosomes, half of which are inherited from each parent. Down syndrome occurs when an individual has a full or partial extra copy of chromosome 21. This additional genetic material alters the course of development and causes the characteristics associated with Down syndrome.”
www.ndss.org

The cause of Down syndrome is still unknown. There is no way to know ahead of your pregnancy that your child will have it and there is no way to prevent it. The extra chromosome can originate from either the mother or the father.

  

I’m including some tidbits about Brighton as well along the way. (Many of these will turn into bigger blogs in the future!) These are pictures of Brighton and Marigold three days after they were born. It was the first time I was able to hold them. Brighton is in the yellow hat.

AND

There are a total of about 4 million babies born in the US each year, and there are approximately 400,000 people living in the US today with Down syndrome. The total US population is about 325.7 million (as of this post). That makes it about 1/8th of 1% of people in the US have Down syndrome. We are one of the lucky families who really won the lottery to have such an amazing kiddo in our lives!

Brighton recently turned 2, and while Goldie has about 10-12 teeth, Brighton has 0! We think teeth are finally on their way. Brighton doesn’t eat by mouth nor does he chew on toys and teethers, so we’re thinking the lack of input and pressure on his gums might be why his teeth are taking their time!

Brighton has Trisomy 21.

With Trisomy 21, all cells have a third 21st chromosome. With Mosaicism, some cells have the third 21st chromosome and some don’t. With Translocation, the additional 21st chromosome attaches itself to another chromosome, usually chromosome 14.

Come back next week for more!

“And it’s warm and real and bright
And the world has somehow shifted”
– I See The Light, from Disney’s Rapunzel

One thing that all mothers of children with Down syndrome have is a diagnosis story – the point at which moms (and dads) find out their child has Down syndrome.

One thing to know: Down syndrome is diagnosed either prenatally with screening and/or diagnostic tests (diagnostic being nearly 100% accurate), or at birth by the presence of physical traits, followed by chromosomal analysis. Ours was a prenatal diagnosis.

This was my second pregnancy and I was 36 years old. A pregnant woman over the age of 35 is considered “high risk” or of “advanced maternal age” (or my favorite – having a “geriatric pregnancy” – insert laughing emoji here). I was also carrying twins, which upped my high risk factor. Due to these factors my doctor recommended I have the Harmony test to check for chromosomal abnormalities. It’s a done with a simple blood test and is non-invasive, unlike an amniocentesis. I had done the test with my first pregnancy as well, and the most exciting part was being able to find out the sex of the baby at about 10-12 weeks pregnant rather than waiting until 20+ weeks for them to have grown enough to see on an ultrasound. I didn’t expect anything abnormal either time and besides, no matter what they came back with I’d still be keeping the babies, so did it really matter if there were chromosomal abnormalities? We just wanted to know the sex of the babies!

“The test will take about a week or two to come back and we’ll call you with any problems.” Pretty standard speak for doctors when you’re taking any kind of test, really. I thought nothing of it at all. I just knew that in 7-14 days we’d know if our babies were boys, girls or one of each. I also thought nothing of it when the office called my cell phone while I was at work. I’d always take personal calls in the hallway, so I stepped out, leaned against the wall and listened. I don’t really remember the actual words that were spoken because I was so anxiously waiting for him to tell me what the babies were that I didn’t really hear what he actually said. Once I processed that he was in fact telling me that they found the presence of Trisomy 21 in the sample they took, I remember saying something like “OK, so what does that mean? What do we do?”

I don’t know if he said “I’m sorry.” I remember his tone being part quiet, part matter-of-fact, and maybe having a hint of nervousness delivering news that isn’t expected, unsure of how I’d react.  Due to the nature of the test, we didn’t know if one or both babies had Trisomy 21, also known as Down syndrome. We just knew it was present. I really had no idea what to feel or what to do. I called Tim and couldn’t reach him right away. So I called my parents. I needed to tell someone else. I needed to know what emotions to have. And that’s when I cried. When I finally told someone else. When the words came out of my mouth. I was pacing the parking lot at this point trying to figure out what to do.

I reached Tim, told him what the doctor said, told him I didn’t really know much more than that. We made a plan for Tim and me to do a conference call with the doctor that evening to find out what to do.

What to do.

We needed to figure out what to do? Really?

The internet is loaded with videos of people being surprised and congratulated about their new pregnancies. Instead, we had tears and were asking “why did this happen?” and “what do we do about it?” No one was there congratulating us with this news. We were being squeezed in to see new doctors, more high risk specialists. We had a diagnostic test called a CVS done almost immediately (in which they took a sample of each placenta and biopsied them to confirm which twin had Trisomy 21). We sat down with a genetic counselor. We asked hard questions. And I mean really hard questions.  We found out things like 75-90% of pregnancies with Down syndrome are aborted. We found out how an abortion is done. We found out that in New York State you can legally abort a baby up to 23 weeks and 6 days into your pregnancy. We found out that 50% of babies with Down syndrome have heart conditions and that some may not even survive to full term so you may have to decide what to do if that’s the case. What to do?

We asked these questions and found out these things because we thought we needed to know all of the possible bad stuff in order to make a real informed decision. Because, whether they meant to or not, no one gave us any real hope of this being a good thing. Tim and I saw a therapist together because we could not figure out What. To. Do. We felt we had to consider what life would be like for us and for our other children. What would happen once we were gone and the girls had to care for him. And I realize now that it’s because as soon as we got the diagnosis, it was a spiral of “here’s what could go wrong and if it does, what do you want to do”?

It doesn’t have to be that way. I do have to say, no one pushed us to do anything one way or another. I’ve heard numerous stories of parents being encouraged to abort their pregnancies due to Down syndrome, and that horrifies me. What we should be is congratulated! We should be encouraged. We should be connected to other families. We should be given resources, names, people to turn to who have children with Down syndrome so that we can see that yes, there may be complications, life may not be easy (is it ever?), but holy cow IT IS WORTH IT. You run the risk with ANY child of there being challenges, even with the healthiest of pregnancies. Just because you find out before you give birth that there is something different about your child does not mean it’s the end of the world and that you have to DO something about it.

What I can say is this. It’s not the life I expected. It’s hard. We have a lot going on. We’re tired. We’re stretched thin. We’re scared at times. But at the end of the day, Brighton is so outstandingly special to us that I can’t even find a word special enough to describe him. I looked at him one day as he smiled up at me and I said to him “I think God put you here to make me smile.” Who could really ask for more? I could not imagine life without him. He has Down syndrome, but he is not suffering from it. Brighton is really and truly our Bright One.

“And it’s warm and real and bright
And the world has somehow shifted
All at once everything is different
Now that I see you”

I have since joined online communities mainly through Facebook that help support families who receive a diagnosis of Down syndrome, as well as throughout their journeys. Unfortunately, I did not find these groups until Brighton and Marigold were about 14 months old, and I so could have used these groups back when I was 14 weeks pregnant. Please feel free to reach out to me directly with any questions!