Posts Tagged ‘translocation’

Gone

I’ve lost another baby.

That’s the third I’ve lost, the third in a row, and my fourth pregnancy. Lost before we knew boy or girl or had much time to dream about who might be joining the family.

There’s not much to say at this point, though this third loss magically opens a door to all kinds of testing and lab work and interventions should we choose it.

But I’ll never have the answer I really need: why my babies came to me only to leave again so quickly.

And I don’t know how to regain the other thing I need: hope. Hope that Rowenna might be a sister, hope that a beautiful plus sign on a pregnancy test might end with a sweet baby in my arms. Hope that when I share our news I won’t later be tearfully sharing a loss.

It seems like such a simple thing to wish for, doesn’t it? A child. Something that seems to come so easily to so many people.

It feels like wishing for water but finding only a well run dry. Wishing for food but finding none.

Such a simple wish, such a basic, instinctual thing to want: a child.

And when it’s given to you but taken away again in the blink of an eye there is nothing left but a hole in your heart, a hole that can’t be fixed, and an endless list of questions that can never be answered. Nothing can replace a baby that is lost. That unique being, that single instance of chromosomes and cells and life will never be replicated.

Not much to say, and not much to do but move forward. Slowly. One foot after the next. Wondering, always wondering.

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Pause

Today is Rowenna’s Heart Day.

A year ago today, Rowenna was carried away in the arms of an anesthesiologist while hubby and I stood in stunned silence. I had the fleeting thought that I have the sweetest baby since she had gone so willingly and spared her mother the heartache of watching her cry.

I also had the fleeting thought that it would be the last time I would ever see her awake and smiling. As I’ve said before, watching a child go through open heart surgery is nothing I would wish on even my worst enemy. No mother should ever have to have that thought flash through her mind, especially when it is a legitimate possibility. I will never forget how she looked that morning and I protect that memory fiercely.

But thankfully, Rowenna was in extremely capable hands and 9 hours later she was wheeled out from the operating room, a little smile on her lips. That’s when I knew she was going to be ok.

Rowenna Recovering After Surgery

A strange thing happened then. Four months after she was born, I was staring down her Down syndrome diagnosis again. I had no idea how far back in my mind I had put it so that I could handle the heart thing until it came careening, screeching back into the forefront. There were rough times after her heart surgery while I grappled with the diagnosis again, a diagnosis that couldn’t be fixed or cured. Time and the support of family and friends got me through it.

A year later, I’m staring it down again.

We’re thinking of a sibling for Rowenna. But for us, getting pregnant again isn’t just as simple as deciding whether or not we want another child or have the resources to provide for another child.

Because I’m a balanced translocation carrier, we have to be open to another child with Down syndrome in a way that the vast majority of people do not. The fact that having another child gives us pause at all has sent us into tailspin. If we hesitate to welcome a second child with Down syndrome, what does that mean for Rowenna? Do we really accept who she is if we hesitate? Is it wrong to worry about providing for two children with Down syndrome? Do we not love her as much as we think we do? We’re floundering, and there’s not a lot of places to turn for help out of this.

This is a very isolating feeling. I’ve hesitated to post this for a few weeks now because I know it will not be welcome in the Down syndrome community. I’ve even backed away from  a few sources of support because I no longer truly feel a part of the Down syndrome community.

So here we are, a year after tackling this diagnosis, staring it down again. We’ll get there. We’ll come to an understanding again. I know with a lot of prayer, patience, and love we’ll be at peace again.

In the meantime, we are blessed with a girl full of smiles – a girl who is really developing quite the sense of humor. A girl we love very much.

Rowenna's Wild Bedtime Hair

First Birthday

My baby is one today.

A year ago I labored to bring her into the world, my husband and my doula by my side. A year ago they placed her in my arms and I took her in, every last inch of her. A year ago I became a momma and we became a family.

A year ago I heard the words that would change me forever, that my girl has Down syndrome. That night my doula told me to just open my heart to Rowenna and the rest would follow – and I am oh so glad I did. I am so glad to have this little ray of light in my life and fiercely proud to call her my own.

So after a year, where do we stand?

Rowenna is a baby with a quick smile and a heart-melting giggle. She loves to snuggle and she reaches for hugs. When hubby is at work, she looks around and says “dada…dada…dada” with a little question mark at the end, wondering where he is. She gives high fives. She puts her hand over yours and gets you to play the piano or cover your eyes for peek-a-boo. She loves to listen to music, will dance along, and especially loves to hear singing. She is also showing interest in guitars and her grandpa is overjoyed to see her tentatively reach a hand out for his guitar to try a little strum.

She sits fully independently and is working on getting into a sitting position on her own. She’s working on pulling herself up onto things. She army crawls like a little speed racer across the floor and is fast enough to ambush the cat. Jax is mostly tolerant of her sneak attacks and lovingly flops over to purr and have his tail pulled. She rolls a ball back and forth with you and likes to bang her toys together.

Slowly but surely we’re transitioning to a straw cup. Self-feeding has been a struggle but we push ahead. She’s drinking cow milk now and just a little momma milk in the morning. She enjoys a variety of pureed foods and speech therapy starts up again soon to work on eating more table foods.

But more than all the things she can do, I’m most proud of how loving Rowenna is. Truly, she is just a big ball of love. Everywhere we go we get smiles and coos. She’s like a little magnet – I am always amazed at how people want to just snuggle her or even just hold her hand. And she just soaks up this love like it’s what she’s made to do, and returns it in smiles and giggles and raspberries. What a gift to have a baby so happy, so snuggly, so willing to love.

Happy birthday to my baby girl! We love you so!

FYI: If you’re a friend on Facebook or Baby Center, you’ve already seen this video. 😀

Translocation

Today we received a difficult phone call.

Down syndrome is caused by a third full copy of the 21st chromosome. That is why it is sometimes called Trisomy 21. Of all the people in the world with Down syndrome, 96% have a completely random form caused by a third 21st.

3% have what is called sporadic translocation Down syndrome. It’s still a third 21st chromosome, but it’s in a different place. And it’s random.

1% have a familial translocation. My Rowenna is in this 1%

Talk about beating the odds, right? Down syndrome in any form only occurs in about 1 in 800 live births. And my baby girl is part of an even smaller group – that 1%.

That’s what we learned today, that Rowenna has a familial translocation. We also learned that I’m the carrier. I have an atypical genetic make-up, and when my genes went to form Rowenna, she ended up with Down syndrome.

My momma heart is broken, for Rowenna and for myself. Everyone wants to reassure me by saying things like “but Down syndrome is random! It’s not your fault!” I no longer fall into that category. For us, Down syndrome was NOT random. I passed it down to my baby. I passed it down to her just like I gave her my blue eyes.

I wish I could hide behind the random and not take on any blame for this. I wish I could hide behind the random and blissfully enter another pregnancy one day, but that just isn’t what is in store for us. There are statistics I could share here  but they’re somewhat confusing and mostly disheartening.

And on top of it all, this news makes me wonder if I have accepted Rowenna’s diagnosis after all. If I would hesitate to have another baby with Down syndrome, what does that say about Rowenna? Do I not love her like I think I do? Am I really ok with who she is?

I offer this up tonight,  into the great unknown of the internet, because I need it out. I need it out of my heart and into writing and out into the world. I need to know I’m not alone in this and the only way to find out is to put it out there.

I wish I had something wise to say about it. I wish I had something uplifting to say. Even prayer falls short tonight.