Brighton: His Day

“I’m lucky baby, whenever I see your smiling face, lucky to be the one to be lucky”                     – Lucky, by Bon Jovi

As I sit down to write this, I’m feeling very anxious. Brighton is 2-½ years old and we are currently trying to wean him off of a medication he takes for pulmonary hypertension. I am concerned he is having a negative reaction to the weaning – we’ve had to increase his oxygen requirements and he is noticeably more fatigued than normal and his cardiologist is out of town. Yes, his cardiologist, the cardiologist we have been seeing since before he was born.

So I’m anxious. And this is just one of many, many, MANY days of anxiety I’ve lived since May of 2016.

May 2016: 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.” I was also carrying twins, which upped my high risk factor. Accordingly my doctor recommended I have the Harmony test to check for chromosomal abnormalities. It’s a simple blood test and is non-invasive, unlike an amniocentesis.  “The test results will take about a week or two to come back; 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 also thought nothing of it when the office called my cell phone while I was at work. Standing in the hallway of my office building I was told I they found the presence of Trisomy 21 – also known as Down syndrome – in the sample they took.  In that moment I felt confused and like something was very wrong. (I came to find out later how wrong I was and how right everything is.)

After a couple of weeks with specialists, more testing, and very difficult discussions with a genetic counselor and doctors, we confirmed – on the Friday before Mother’s Day, a day I’ll never forget – that our son had Trisomy 21, and our daughter did not. From this point on, my pregnancy became a series of appointments and ultrasounds. In my first pregnancy with our daughter Madeline, I had a few ultrasounds, but only the standard ones at the beginning, at about 20 weeks, and towards the end. With the twins, I had to switch to a high risk team of doctors who saw me every two weeks to do an ultrasound and measure the twins. I also started seeing a pediatric cardiologist because 50% of babies with Down syndrome have heart conditions, so he started tracking Brighton’s heart development in the womb.

At 22 weeks pregnant, we went in for another ultrasound. This is the day we found out that Brighton’s growth was not following the typical curve that Marigold, his twin sister, was following. He was noticeably smaller. I remember the doctor saying “there isn’t much we can do but wait at this point – at 22 weeks, it’s much too early to deliver the babies, so we have to take the chance and hope he keeps growing.”  Wait… What?!

Thus began 10 weeks of anxiety-ridden appointments.

“Our goal is to get them to 32 weeks because that will get the twins to an important milestone in their brain development.” Thankfully, it was at 32 weeks and 2 days that the twins were born. They were born on my husband’s birthday – October 1st – via emergency C-section. Brighton had Intrauterine Growth Restriction (IUGR), which is what caused his growth to evolve slower than Marigold’s. At 7:00 a.m. that morning the medical team determined Brighton’s placenta and umbilical cord were not functioning properly and the blood flow in his umbilical cord was in fact flowing AWAY from him. At 9:46 a.m. we met Marigold and at 9:47 a.m. we met Brighton.

With Maddy, I delivered her and had her placed immediately on my chest. With the twins I was lying on a table and got a quick picture with them each held next to my head before they were whisked away to the Neonatal Intensive Care Unit (NICU). I didn’t get to hold them until they were 3 days old. They lived under lights, with lots of wires and tubes all over the place.

Marigold spent one month in the NICU – she was born with proper physical development for a baby at 32 weeks. She just needed to gain some weight and learn to take nourishment from a bottle.

Brighton didn’t come home until he was 6 months and 6 days old. Because his lungs had not properly developed by the time he was born, he needed oxygen. On top of that, he aspirated fluids into his lungs. He needed to be intubated for a few days at one point just to give his lungs a break. He had surgery to receive both a G-tube feeding tube and a Nissen fundoplication, which is a procedure that tightens the point where the esophagus meets the stomach to reduce reflux. All this before he was 4 months old.

While all this was happening, we engaged a nursing service because Brighton was eligible to receive at-home nursing care once he was able to be discharged. At 4-½ months old he was transferred to rehab where he spent 6 weeks receiving inpatient physical, occupational and speech therapy. He still needed oxygen 24/7. He received feedings in his G-tube with a pump. Despite all of this, at 6 months and 6 days old we were able to bring him home.

    

We now live a life we never expected. It’s hard. We have a lot going on. We’re tired. We’re stretched thin. We’re scared at times. Brighton has been hospitalized several times in the past two years – all for respiratory viruses and issues like pneumonia and a scary one called human metapneumovirus (that was a 12 day PICU stay). I’ve had to call 911 several times. I had to leave my job in order to take him to all his weekly therapy appointments and various doctor appointments each month. I carry a document on my phone with the extensive list of medications he takes because every doctor needs that list every time we see them. We’ve had a nurse at our house almost every day for the past 2 years helping to take care of him.

He needs that level of attention because things can flip on a dime for him. We have a special stroller for him, a stander for him, approximately 12 oxygen tanks in our house at any given time, a monthly order of medical supplies, a Vitamix blender so I can blend his food to be given through his feeding tube, a nebulizer, a suction machine, and a pulse ox monitor that has woken me from my sleep so many times that I don’t really know what a full night’s sleep is anymore.

So…why Lucky 21? Sure, there’s a chance these things can happen to any child, any twin, any pregnancy. Ours happened because Brighton has a 3rd copy of the 21st chromosome. His placenta also had Trisomy 21, which is what complicated his growth. That extra piece, that 3rd 21, may not sound so lucky based on everything I mentioned above, right?

But, we are lucky.

We have a son, who, with his extra piece, brings an amazing amount of love and light to our lives. He is a lesson in strength, perseverance, and positivity. He has handled every single day of his life with a smile on his face and sheer, unconditional love in his heart. He has brought joy to EVERY SINGLE person he has met. He has brought smiles to my face in times of very hard tears. He is teaching his sisters lessons in love, compassion, understanding, and acceptance, even if they don’t realize it yet. He has given me strength I didn’t know I needed. We celebrate everything. We find happiness in the little things – he just learned to roll a ball back and forth between himself and another person. At 2 years and 2 months old, he finally learned to sit up on his own. Yes, that took a while, but he DID IT and he rocks it every day now. He CAN. He WILL. He DOES.

I was anxious when I sat down to write this. I’m still anxious. But we WILL get there. He WILL get there. I have to realize things like this every day, and it will be a lifetime of lessons taught by him. What an amazing teacher he is.

We are lucky. So very lucky.

*Note: A few hours after writing this, Brighton’s nurse and I were packing him up to go to the Emergency Room. After consulting with three doctors via phone, we decided it was best to get him checked out to rule out any respiratory illnesses. In the end, I was right. It was the medication. After receiving a full dose of his medication, the energetic, happy and silly Brighton emerged amidst the X-ray and tests we did in the ER. We were home six hours later and he’s doing well again. This is our norm. We know our son. We know the signs. We take it one day, one hour, one minute at a time.

“It takes a lot to get them right when you’re learning the facts of life.”
– Facts of Life theme song

 

This is the last bunch of facts before tomorrow’s post on 3/21! I hope you have enjoyed learning about Down syndrome and about Brighton himself!

 

Also known as B, B Man, Bug, Bugga, Big Kid, Brights, Baby Boy, My Handsome, and Bubba, which is the one he has recently started calling himself!!

 

We make the best of each day!!

 

Brighton is already driving! (Photo is from when he had a cold and needed a little O2)

 

Add to this list: Hanging out with cousin Dezi!

 

 

We found out about Brighton’s diagnosis when I was about 14 weeks pregnant. To be honest, we were not offered much hope at the time. It made it all very hard to hear. While I was physically in very good shape, the entire pregnancy was very tough for Tim and me emotionally. We were dealing with a diagnosis we didn’t fully understand, we didn’t know where to turn for information, and along with it Brighton had IUGR which caused him to develop at a slower rate than he should have and meant we had to monitor him closely to be sure he was even surviving week to week. Sadly, many women and families do not have good experiences when it comes to how their diagnosis is delivered. Brighton brings so much love and joy to our lives every single day. We are so amazingly lucky to be parents to this beautiful soul, as well as to our two fun, silly, loving and happy girls who love their brother so very much.

You can find my post about my diagnosis story here: All at once, everything is different

 

      

If you know anyone who has questions or receives a diagnosis and doesn’t know where to go to learn more, please feel free to reach out to us. Brighton is just beginning an awesome, adventure-filled life, as are our girls Madeline and Marigold. We can wait to see where life takes us all!

“There’s a time you got to go and show you’re growin’ now you know about the facts of life”

– The Facts of Life theme song

 

It took even me a long time to learn all of these things about Down syndrome. I am still learning to this day. I am also open to any and all questions. I would rather someone ask – no matter what it is – and start a dialogue about any of these facts than to have you sit there and wonder. Please feel free to reach out at any time!

 

Brighton works every day and we cheer so much and so loud that we even scare him a little sometimes.

 

When people hear Brighton has a twin sister the first question is usually “And is she….” And I say “No, she doesn’t have Down syndrome. She’s typically developing” or something similar. I think so far most or all people have stopped before asking if she’s “normal” because, really, all our kids are “normal”. Each one of them is unique and that uniqueness is their own personal normal. So asking if Goldie is normal would make it sound like Brighton is abnormal, which he very much is not. He’s amazing. All our kids are amazing.

 

 

This year, I will be reading books to all of the classes at our kids’ school! Brighton started attending two days a week back in January, and they have been so welcoming and supportive in raising awareness. We’ll also be rocking our socks!

 

And we get to spend every day with one of these amazing people! We are so lucky!

 

Smile!!

 

It may be called Down syndrome but there’s nothing down about it! (Also, depending on where you are in the world, some countries do still use the apostrophe and call it “Down’s syndrome”.)

 

Brighton did not have any heart defects. We started echo-cardiograms while the twins were still in utero and are still seen every 4 months to keep tabs on him. Because of his pulmonary hypertension, the cardiologist likes to keep an eye on his heart and how it’s working and he’s been doing great.

 

“You take the good, you take the bad, you take them both and there you have the facts of life.”
– Facts Of Life theme song

As normally happens in my life, the best laid plans…often go awry. My intent in October of 2018 was to post 4 blogs, one a week, for Down Syndrome Awareness month. I got one done. With World Down Syndrome Day coming up, I am revisiting this thought and will post the remaining facts now! Better late than never! The important thing is to get the information out into the world.

 

Some people may think that the “Down” part of Down syndrome has something to do with the diagnosis itself and what people who have it are like. But it is anything but! It is simply named after John Langdon Down. Believe me, there’s nothing down about it!!

 

Brighton got his feeding tube because as an infant he would aspirate when taking a bottle and was also not able to finish bottles that were given to him. It was the only way we could get enough food into him every day. When he came home from the NICU, his reflux was bad for a while so we had to stop bottle feeding for a while as well, so he never fully learned to eat by mouth. It’s a slow process, but we are determined to get to the finish line, one bite at a time!

 

 

Brighton is not suffering. He’s loving life! He rocks his extra chromosome and has so much fun, love and laughs! He’ll brighten anyone’s day!

 

 

Brighton has infinite ABILITY!

 

Brighton has been off his oxygen now both night and day since the beginning of September. We also finally stopped using the pulse ox monitor, which he would wear pretty much 24/7. So now he’s wire-free! It’s amazing to see that precious face without anything taped to it! It took almost 2 years but he’s doing great!!

 

 

Please remember this. And Just. Don’t. Say. It.

 

Brighton isn’t Down syndrome. It’s something he has. There’s so much more to him! Our kids define themselves.

 

He’s so anxious to be moving around independently, so we’re working really hard to reach that goal! Brighton started sitting on his own in December of 2018 and we are working on crawling! We hope to see him crawling all over this house very soon!!

“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!