World Down Syndrome Day 2015

World Down Syndrome Day.

March 21- 3/21-  a day picked to represent trisomy 21 or three of the 21st chromosomes (most of us have only 2- the third is what is responsible for what we know as Down Syndrome).  It’s a day of celebration for the Down Syndrome community- a group I tentatively belong to.  For me it’s a day of celebration, a day of sadness and anger, a day of reflection.

Last year I wrote a letter to those who were expecting a child with Down Syndrome.  I’ve written a lot throughout the year about Down Syndrome- what I see in the news, how it crosses my path on a daily basis, my memories… I recently reblogged this post by Sadie at Invincible Spring, which I wanted to share again today, of all days.

1) Prenatal screening can detect the risk of delivering a baby with Down syndrome.

2) Prenatal screening can detect the possibility of delivering a baby with Down syndrome.
They mean basically the same thing, but not. We welcome possibility, while we shy away from risk.

After reading her words, I have totally changed my practice.  In the babyloss community we are admittedly very sensitive to words and phrases, even if they are well intentioned.  “God needed another angel” is well meant, hoping to give us comfort- but those words sting us, even those in religious communities.  Those in the Down Syndrome community, can experience the same hurt.  And it starts early- before a diagnosis is even made.  We obstetrical providers are the first to address the idea of having a baby with Down Syndrome.  Sadie’s words has made me rethink how my simple words as a midwife portray Down Syndrome in our society.  I no longer use the word “risk” when discussing  genetic testing.  I now talk about the possibility of having a baby with Down Syndrome.  One little word, that connotes so much.  Especially for me.

I was open to the possibility of having a child with Down Syndrome.  I opted for testing even though based on my family history and my age, I was “low risk.”  But as I have counseled patients in the past, low risk doesn’t mean no risk.  I wanted to know my chances of having a baby with Down Syndrome, even though I didn’t think it would change my management- I thought I would continue a pregnancy with that information.  I have also learned, we don’t really know what we would do until actually faced with a certain situation.  When I was told, “it’s Down Syndrome,” I felt relief. The initial abnormal screening had me worried about all the life limiting conditions it connoted, but Down Syndrome was livable in my mind.  My baby could live!  I certainly cried my tears later over the loss of the dream child I thought I was having, but I also eventually embraced the idea- going to my state’s annual Down Syndrome conference, talking with parents of children with Down Syndrome, researching therapies and pediatricians who specialize in children with Down Syndrome.  I had a registry full of special baby wearers and toys made for children with Down Syndrome.  I accepted.  My baby began to feel extra special- yes, a wanted baby, but a wanted baby with Down Syndrome.  An estimated 92% of pregnancies diagnosed with Down Syndrome are terminated.  I was proud to be part of the minority, and also sad that I was part of the minority.  In some ways, I feel future pregnancies may never have that same specialness.  Don’t get me wrong, I hope for nothing but as healthy a baby as possible, but having a baby with the typical number of chromosomes seems almost easy.  Almost.

International Down Syndrome Day is also a little painful for me.  I see photos of smiling children on the news and flooding my facebook and blog feeds, their features of Down Syndrome evident in their faces and their stories of how happy and loved they are written underneath.  I so badly wish I could be in that club- that club I at first never wished I belonged to- the parenting a child with Down Syndrome club.  It’s a lovely community, full of support for people having both an easy and a hard time.  Raising a child with Down Syndrome is a challenge- no one can argue that.  But what child doesn’t have his/her challenges?  Learning your baby has Down Syndrome simply makes your baby’s challenges known and upfront.

At times I can be a little angry- it was the extra chromosome that stole my baby from me.  Mabel’s kidney defects are rare, but they are more common in babies with Down Syndrome.  I sometimes get angry that I was in that minority that said “yes,” that I would raise a child with Down Syndrome, while the overwhelming majority chooses not to.  But I was given a child that wouldn’t live, while others terminated a pregnancy of child that might have lived.

I still believe in a woman’s right to choose. I just simply wish that more people would choose yes, when it comes to Down Syndrome.  It is not an easy road- sometimes it can end in heartache, like with me- but I don’t regret taking the risk of loving my child with Down Syndrome.  I would carry another child with Down Syndrome, despite the risks of loss.  There are no guarantees in life, in love, in family- all we can do is hope.

***

In remembrance of our daughter Mabel, my husband is fundraising for Best Buddies, an organization that helps people with intellectual and developmental disabilities- including those with Down Syndrome.  On May 31 he is biking 100 miles across Cape Cod to raise money in her name for Best Buddies.  If you’re looking for a way to celebrate World Down Syndrome Day, consider donating by clicking here.

Mabel

 

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A kidney ultrasound

The cold gel on my side felt like appropriate payback for the daily cold gel torture I impose on my patients as I search for fetal heart rates. The cold gel on my side was looking for something different. The sonographer scanned my kidneys looking for cysts.

“So it says you have a family history of multicystic kidneys?” she questioned. “Who’s had them?”

“My daughter.”

“Oh, no one else? Did they trace them back to anyone else in the family?”

“Well, she had Down Syndrome, so it’s possible it could been from that. But no one else in the family.”

I had been putting off this ultrasound. Mabel had multicystic kidneys, which we generally attributed to the Down Syndrome, but in theory could have had other origins. It can also be spontaneous or have a hereditary component. Children who are diagnosed with multicystic dysplastic kidney disease (MCDK) often have a parent who turns out to have the disease as well, albeit undiagnosed. When parents have the condition, there is a chance they can pass it on to their children.

So, I was encouraged to get my kidneys checked- for my own health and to see about any risk of recurrence in future pregnancies. I hemmed and hawed about it. It was easy just to chalk Mabel’s kidneys up to the Down Syndrome (kidney issues are more common in children with DS than the general population). I wasn’t sure I wanted to know. I figured (naively) that I was healthy. I’ve never even had a UTI. And if I did have MCDK then it would be yet another thing I would worry about in future pregnancies, but something that wouldn’t be diagnosable until mid pregnancy anyways. And it wouldn’t change my management- the golden question in my field. If a test wouldn’t change the management, then why do it? Do I want the additional worry of an increased of kidney disease, oligohydramnios, poor prognosis and neonatal death, when there is nothing I could do about it?  .  Ultimately I decided it’s important to know for my own health. I want to be healthy for subsequent pregnancies.

“No cysts,” she said as she scanned my right. “And none here either,” as she finished up on my left.

I would be lying if I said I wasn’t relieved. I’m not sure whether the sonographer saw the lone tear that I let escape.

Sometimes knowledge is power and sometimes knowledge is pain

I have a friend who is a doctor and she shares snippets of her daily life- the trials and tribulations of a resident physician, her patients and the lessons about life she learns. Some stories are beautiful and uplifting. Some make me cry. Some make me cringe. All are insightful.

Recently she wrote of a meeting of providers- discussing their patients’ cases and one of them, an oncologist was distracted because he had recently learned of his mother’s breast cancer. He had trouble focusing on the meeting because he knew better than anyone what the diagnosis meant for his mother and his family.

“Because sometimes knowledge is power and sometimes knowledge is pain.”

This was me, my entire pregnancy with Mabel. I had a week before my first ultrasound where I assumed everything would be okay. Until there was no heartbeat and we thought I had a blighted ovum. Seeing a heartbeat a week later, confirmed a viable pregnancy but I spent the rest of the first trimester knowing what it felt like to miscarry and worried I’d be feeling that way again. Though I told my family I was pregnant before my genetic testing, I asked them not to share the news until we got the results, because even though I had no risk factors, I knew it could still happen to me. When I learned Mabel had Down Syndrome, I decided to accept the diagnosis, but it wasn’t simply recognizing I’d be raising a child with special needs. It was also recognizing that I might not be- I was all too familiar with the risk of miscarriage and stillbirth with the diagnosis (ironically, I wasn’t thinking about neonatal loss). When we were told her kidneys weren’t working, she had no fluid and if she were even to be born alive, her lungs would likely be too small to sustain her life, I had some hope, because what mother doesn’t? But I also knew. I’ve told people myself when there is no fluid at early gestation that their baby will die. I knew.

Yes, sometimes knowledge is power. I was able to research and make my own educated and informed decisions about my body and my baby. But knowledge was also pain for me. I never enjoyed my pregnancy like I should have, like I wished I did; it was too tainted with worry.

I’m sure those of you out there who have had a pregnancy after loss also know that knowledge is pain. There are some of you who may have learned that lesson with your first pregnancy, like me.

Is knowledge power? Is knowledge pain? What is your experience?

identity struggle

I had two stints in the hospital, pregnant with Mabel.  The first was a long weekend to determine why I had no fluid (her kidneys weren’t working) and meeting with specialists to determine her prognosis (poor). The second was the final two weeks of my pregnancy for monitoring- it was supposed to be longer, but she had her own ideas and labor started weeks before my planned induction.

Both times I had my nurses, doctors and midwives visit me on a daily basis, mostly just for talking because there wasn’t much more they could do.  I essentially monitored myself, ensuring my baby was on the monitor when she was supposed to be, and the rest was just watching.  I had many conversations about the direness of my situation, often crying about how unfair it was that this was happening to my first child, my only child.  (not that losing a second or third or forth child is any easier!). I think I was lamenting not only the future loss of my baby, but the loss of the identity I was supposed to be taking- would I be a mother?  I thought if only I had a child,I would at least (there are those darn words I dislike so much!) know that I would be a mother.

I’m not sure who it was trying to reassure me, but I heard a few times, perhaps from a few different people- “Just think, if you had a kid at home, you’d be struggling with caring for that child and this one.”  At the time, I said, “you’re right,” trying to focus on things to be grateful for- that my only responsibility was me and this child.

This memory came back to me recently and it angers me.  Of course whoever the speakers were, their intentions were nothing but good- trying to find a silver living, to help me find some gratitude.  I am grateful that my decisions for Mabel were uncolored by any other life circumstances- they were made soley for her and us as a little family of three.  But I think I respectfully disagree.  I do wish I had another child.  It wouldn’t make the pain of losing Mabel and less, but it would let me feel like the mother I so badly wish I could be.

(Disclaimer: I know having living children through loss comes with its own set of struggles. I in no way mean to say that having living children makes it easier- I’m sure in some ways it makes it harder. My only intention is to highlight how I still feel like I don’t quite belong in either world- the mothers and the not mothers. )

Do you have flashbacks to little details?  Do you struggle with your identity as a mother?

 

Finding kinship in the exam room

After I’m done addressing whatever gynecological problem she came in for, she said, “I have to ask you one more question.  It’s personal.” My assistant left and she asked, “Your baby, what happened?”

She had read the sign posted at the front desk.  It wasn’t the question I was expecting.  When a patient tells me they have a personal question, I prepare myself to address things like concerns about how their vagina looks or issues with sex, so this question was a pleasant departure.  I was happy to answer.  I began with her Down Syndrome diagnosis and our decision to continue.  I explained the low fluid and what it meant for her kidneys and lungs.  I told of her birth at thirty-six weeks and her death six hours later from lungs that were just too small.

She listened patiently, attentively and when I was done she told her own story.  The story of her boys, identical twins, who had something called Fragile X.  There wasn’t a term for the genetic disease that causes mental retardation when they were born; it wasn’t until they were twenty-seven that their sister heard about a study that gave their condition a name.  The family soon learned that many of them were carriers of the trait and some even had trait-related symptoms.

I had asked earlier in the visit if she was in a relationship.  It was how I eased into the next question ascertaining whether she was sexually active, a question I wanted address in a respectful way to the woman in her eighties sitting in front of me.  She told me she had been widowed two years before.  Now when talking of her sons, she said one of them died a few months before her husband.  He had been to camp not long before he died.  It was a camp he loved and came home proudly telling stories of his accomplishments.  After he died a counselor for that adult camp wrote her and told her of how her son would make everybody laugh.  Her eyes glowed behind a brim of tears as she told me this.

She lost her husband and her son in the same year and she told me of both during her visit.  I could see that both deaths caused her sadness, but it was the telling of the story of her son that brought her emotions to the surface.

Whether it be a new mom in her thirties or a woman in her eighties who was gifted decades with her child, whether that child was the picture of health and taken suddenly or she was sick with a poor prognosis, this woman was living proof that losing a child under any circumstance is a complicated and long lasting grief.

I often worry that sharing Mabel’s Down Syndrome diagnosis will change people’s sympathy.  That somehow people will value her less because she was given an extra chromosome.  That they think I won’t be as sad because she wasn’t “perfect.”  No one has actually said these things or even given me the impression that they think such thoughts, but I have already prepared my response.  I was ready to love her even more because of her Down Syndrome.  A part of me felt proud that I would raise a child with special needs because I was going to blow up so many stereotypes by showing the world what she could do and how loveable she would be.  I didn’t realize at the time that she didn’t need to live to do just that.  I wish she were here so that she could witness how far she is reaching.

In the examine room, Mabel allowed this woman to share the story of her son.  To let her tell one person how wonderful it was to raise a child with special needs.  To give her the opportunity to comfort another bereaved mother.  To affirm for both herself and for me that no mother should have to bury her child.

I’m strong because….

I am strong because…

I went to work everyday with what I thought was an empty sac.

I chose to do genetic testing knowing I would likely continue the pregnancy regardless of the results.

I let the doctors push a needle into my uterus, near my developing baby, to get a CVS sample to see what exactly was going on with my baby.

I told people my baby had Down Syndrome in the same breath I told them I was pregnant.

Everyday I worried about miscarriage and stillbirth but still got out of bed.

I went to conferences, talked to experienced mothers and sought resources for the baby who would likely struggle inside me.

I knew enough to take someone with me to each ultrasound, just in case we got bad news.

I accepted the news that my baby had clubbed feet as good news.

I made a baby registry with all sorts of Down Syndrome specific things so I would be prepared.

When I was diagnosed with low fluid and my baby’s kidneys weren’t working and her lungs probably wouldn’t either, I still got out of bed.

I helped people end unwanted pregnancies of possibly healthy babies while I so badly wanted to continue my wanted pregnancy of an unhealthy baby.

I never once considered learning the gender of our baby before birth despite the numerous ultrasounds, because I wanted a good surprise for once.

I smiled at the woman who could not stop wishing me a healthy baby when she saw my large belly in the third trimester.

I decided a classical c-section would not be good for my health and future family.

I decided to prevent a very preterm birth because I didn’t think our baby could survive her medical complications and prematurity.

I cancelled my baby shower.

I went to work with pregnant woman, myself pregnant with a that baby might die any moment.

I listened to their complaints without judgement, even though they were having a healthy baby.

I still talked to my sister who was pregnant with a healthy baby.

I didn’t complain about legs in my ribs or difficulty sleeping.

I exercised all through pregnancy, even when hospitalized.

I was admitted to the hospital and lived for two weeks attached to a monitor, carefully watching every beat of my baby’s heart.

I was ok with two more weeks of hospital time when suggested we wait even longer for delivery to increase my baby’s chance of survival.

I asked my family to try to be there for her birth because we were unsure how much time we’d have with her.

I ordered a baby outfit and blanket so my baby would have something to wear in case she died.

I labored.

I got an epidural, knowing I’d be sad about it later, but also knowing it would help me survive emotionally.

I pushed my baby out in three contractions.

I fell in love with my baby even though I thought I would lose her.

I listened to the doctor who told us her lungs were not responding.

I called all my family to tell them our baby was going to die.

When the doctor said it was time to take her off the vent, I said ok.

I held my baby as she took her last breaths.

I bathed a dead baby instead of a live one.

I held her lifeless body as lovingly as I would if she lived.

I show her pictures even if it will make others uncomfortable.

I visit her grave .

I still get out of bed every day.

 

I’m strong and I know some of you are too.  Tell me, why are you strong?

The statistic

I wrote this email on 10/30/13. It was from me to another pregnant woman who recently received a prenatal Down Syndrome diagnosis.  This is my second email to her.  In the first I introduced myself and reached out to make a connection.  She responded pleasantly but with a different coping mechanism than me.  She was relying on her faith to help heal her baby, who was given the likely diagnosis based on a blood test and ultrasound findings.

 

“No I do not think you’re crazy!  I think when we are given difficult diagnoses, we all look for ways to adjust and cope.  If I were religious I would be relying on my faith too.  I’m finding my own ways to cope.  I’m not sure if [our midwife] told you, I am a midwife myself and so as new things came up by ultrasound I coped by diving into the internet, research, journal articles and medical opinions.  Which was both good and bad at first. Sometimes it caused me more worry than I needed.  Now I only research the most important things and I’m spending more time making connections with people in similar situations and learning about their experiences.  I”ve been on some down syndrome message boards on facebook- which have been nice. And I’m a reader, so I’m reading some books- Bloom By Kelle Hampton and The Shape of the Eye by George Estreich.  And I”m a talker- I’m surrounded by medical people at work and so its nice to be able to talk to people who I dont have to explain everything to.  It can also be hard because at the same time I’m surrounded by pregnancy and can never really escape thinking about my situation. 

 

I can also understand about ultrasounds-  they are not perfect and I find myself hoping for the best too.  They saw an enlarged bladder on ultrasound and now its resolved.  They also see clubbed feet, but some people have told me that they were told their baby had clubbed feet on ultrasound too but turned out feet were fine at birth.  So there is always hope.  In the meantime, though I am hopeful, I am also preparing for clubbed feet, until I know more.  And I’m throwing myself into preparing about the down syndrome diagnosis, because we had the CVS, so I do know that for certain and it is nice I have something certain I can hold on to- because there is so much unknown.  

So, my apologies if this is rambling (i’m a talker).  Its just nice to know someone who probably has been having some similar thoughts and struggles. And to see how other people deal with them. I agree, it does take a special person to take news like this and look to a bright future, however we envision it.”

 

This woman recently had her baby.  I know that much.  Her baby lived and mine died.  I look back on this email and my heart aches for the person I was when I was writing it.  I had been scared of the Down Syndrome diagnosis and all it brought, but I was hopeful.  I was trying so hard to accept.  I look back and think how optimistic I was.  I don’t know any more about this woman and her baby- whether the Down Syndrome diagnosis was confirmed at birth, whether her baby had the birth defects they suspected on ultrasound.  I’m not sure I want to know- because I’m jealous.  And the unfairness of it all really hurts.  I had accepted what was given to me as fact and went with it.  And my baby dies?  And someone who was hoping for a different outcome gets a live baby?  I hope this doesn’t sound like I wish something bad to have happened to her baby.  It’s the opposite- I’m glad her baby lived and I hope she is doing well.  I just wish mine could have too.  I feel like I earned it.  Or maybe not?  I remember feeling lucky compared to her because her baby had suspected heart defects seen on ultrasound and mine didn’t.  That hurts to think about now.  Was I too arrogant?  Would she think that maybe my baby would have lived if only I prayed about her more?  Should I have prayed?

 

These are just questions that run wildly through my head.  I know there is no reason to it.  I know it’s just numbers- chance.  I’m not a statistic, I’m the statistic.  1/625 risk of Down Syndrome. 3% risk of renal defects in children with Down Syndrome.  If I did my math right that’s a 1/100,000 chance of this happening.  This is the only way I can think to cope.  What are the chances of it happening again- 1/100,000.  I can’t win the lottery twice, right?  I’ve had enough unfairness. Enough.

 

I’m going to try to remember my own words, written by a more hopeful, optimistic me.   Though today it’s hard.

 

“it does take a special person to take news like this and look to a bright future, however we envision it”