Smith-Lemli-Opitz

Yesterday, the geneticist called with my test results. It turns out, I am also a carrier of Smith-Lemli-Opitz.

Apparently 1/30 people are carriers. The chance that two carriers would reproduce together is 1/900. When you add to that mix the 75% chance each pregnancy will not be affected, the odds become small that a baby will be born with this genetic disorder. Somehow, we were the 1/900, and then Madelyn was the 25%. Of course, Madelyn wasn’t tested directly so they can’t say with absolute certainty she had Smith-Lemli-Opitz Syndrome (“SLOS”). However, as we are both carriers and all the symptoms matched, we can be very reasonably sure.

For those of you who (like me) don’t remember how genes work, here is a bit of a refresher. Every person has recessive genes and dominant genes. In our case, we each have one unaffected dominant gene, and one recessive gene with the SLOS mutation. Our children will get one gene copy from each of us. So, a baby could get the dominant gene from each of us, the dominant gene from me and the recessive gene from Nathan, or the recessive gene from me and the dominant gene from Nathan. In each of these three cases the baby would be unaffected, which is where the 75% chance comes in (25% chance for each of the three). Then, there is the 25% chance the baby will receive a copy of each of our recessive genes, and in this case the baby will be affected. Most people never know they are carriers of something until or unless they have a child that is affected. Things can be passed down for centuries of family history and never appear. This site has a nice chart that shows what I have just described.

On one hand, I am glad we know a reason. I no longer have to wonder if it was the ham I ate on Easter Sunday, or toxoplasmosis from my cat, or the face cream I was using before I realized some of the ingredients weren’t recommended during pregnancy. I can no longer blame something I did during pregnancy. However, I cannot say I don’t feel at all responsible. Our genes were harmful to our baby. I realize there is no way we could have known beforehand, but it still is a bit disturbing.

On the other hand, I hate what this means for future pregnancies. Although it is good to know this information, it means the problems with Madelyn were not a fluke.

A few options exist that can be done in conjunction with in vitro fertilization (“IVF”), but we’re not sure about them. One option (PGD) involves pre-screening of embryos and implantation of embryos that are unaffected. However, any embryos that are affected would be destroyed, as they would not be eligible for donation to other families. Another option (CGH) involves the screening of eggs before using them to create an embryo. This option is more appealing to us, but I do not know if SLOS is on the list of things CGH can pre-screen.

We also have the option to adopt. We could adopt a baby that is already born, though waiting lists are usually long for this. Our next pregnancy could also come through embryo adoption/donation.

PGD, CGH, and embryo adoption all would be used in conjunction with IVF. So our next step will be to make an appointment with a reproductive endocrinologist (“RE”) to explore our options, though I’m not sure when we will do that.

Regaining Strength

Today it has been ten weeks, and I think I am finally regaining some strength.

Physically, I am able to walk briskly and complete an entire workout routine without too much trouble. The pregnancy weight is not coming off as quickly as I would have liked, but I know it will.

Spiritually, I find myself trusting God again. I still question the injustice of it all, but I also believe God knew this would happen before it ever did, and He is able to work with it. So while I absolutely do not believe God “willed” Madelyn’s death, I do believe He has a plan for our future.

Emotionally, things are a little more complicated. I have found, however, that bad weeks are turning into bad days, and there are many more good days mixed in than before.

I knew I was starting to heal when I recently saw a baby, smiled, and meant it. I’m not saying I didn’t feel any pain at all, or that I was not reminded of what I should have right now. Instead, my focus was on what I will have again.

Am I moving on? Absolutely not. One never moves on after losing a child.
Healing? I think I may be headed that direction.

Beauty Will Rise

Holly posted a youtube video of the song “Heaven is the Face” by Steven Curtis Chapman (lyrics at the end of this post). I looked up the song on iTunes, and realized he has a new album called “Beauty Will Rise” in which every song addresses themes of loss. For those of you who don’t know the story, he lost his little girl in a tragic accident a little over a year ago.

I wanted to share the lyrics to “Heaven is the Pain” because while he describes a different set of memories than mine, I have felt this way so many times. I’ve never wanted to go to heaven more than since the day Madelyn made it her home.

“Heaven is the Face”
Steven Curtis Chapman

Heaven is the face of a little girl
With dark brown eyes
That disappear when she smiles.
Heaven is the place
Where she calls my name
Says, “Daddy please come play with me for awhile.”

Chorus:

God, I know, it’s all of this and so much more,
But God, You know, that this is what I’m aching for.
God, you know, I just can’t see beyond the door.
So right now…

Heaven is the sound of her breathing deep,
Lying on my chest, falling fast asleep while I sing.
And Heaven is the weight of her in my arms,
Being there to keep her safe from harm while she dreams

And God, I know, it’s all of this and so much more,
But God, You know, that this is what I’m longing for
God, you know, I just can’t see beyond the door.

Bridge:

But in my mind’s eye I can see a place
Where Your glory fills every empty space.
All the cancer is gone,
Every mouth is fed,
And there’s no one left in the orphans’ bed.
Every lonely heart finds their one true love,
And there’s no more goodbye,
And no more not enough,
And there’s no more enemy (no more).

Heaven is a sweet, maple syrup kiss
And a thousand other little things I miss with her gone.
Heaven is the place where she takes my hand
And leads me to You,
And we both run into Your arms.

Oh God, I know, it’s so much more than I can dream.
It’s far beyond anything I can conceive.
So God, You know, I’m trusting You until I see
Heaven in the face of my little girl,
Heaven in the face of my little girl.

Memorial Poems & Songs Page

One of the top searches people have used leading them to my blog has been “memorial service songs”. When I was trying to find songs for Madelyn’s memorial service I did one of these searches myself, and it took me quite a lot of digging to find anything. However, I have stumbled across many more songs since that time. So, I decided to create this page where I will keep an organized list of songs and poems that can be used at the memorial service of a baby or simply for comfort.

I have started the list. If anyone has any song or poem suggestions, please let me know.

Missing Madelyn

I have sat here typing and deleting over and over again, trying to find the right words to convey what I am feeling. I still don’t really know what to say. I’m missing Madelyn so much, and I’m wishing she was back in my arms again. I would trade everything for a chance to hold her right now, even if just for a moment.

Update on Wendy

Everyone please keep Wendy and her husband in your prayers. Her little Elijah Ryan was born on Saturday and went to heaven on Sunday. My heart is broken for her.

An Ugly Pair of Shoes

I am wearing a pair of shoes.
They are ugly shoes.
Uncomfortable Shoes.
I hate my shoes.
Each day I wear them, and each day I wish I had another pair.
Some days my shoes hurt so bad that I do not think I can take another step.
Yet, I continue to wear them.
I get funny looks wearing these shoes.
They are looks of sympathy.
I can tell in others eyes that they are glad they are my shoes and not theirs.
They never talk about my shoes.
To learn how awful my shoes are might make them uncomfortable.
To truly understand these shoes you must walk in them.
But, once you put them on, you can never take them off.
I now realize that I am not the only one who wears these shoes.
There are many pairs in the world.
Some women are like me and ache daily as they try and walk in them.
Some have learned how to walk in them so they don’t hurt quite as much.
Some have worn the shoes so long that days will go by
before they think of how much they hurt.
No woman deserves to wear these shoes.
Yet, because of the shoes I am a stronger woman.
These shoes have given me the strength to face anything.
They have made me who I am.
I will forever walk in the shoes of a woman who has lost a child.

Author Unknown

A friend sent this to me shortly after my loss. I don’t know why I’m just now sharing.

To my Friends & Family

Today I want to say thank you to all of my friends, family, coworkers, etc. who have offered/continue to offer support to me as I walk through this deep abyss of sadness. Immediately after my loss I was warned to be prepared for hurtful comments and, even worse, friends who would withdraw and say nothing at all. I am so happy to say my friends and family have made it very clear they are available to me if I need them.

My friends never act awkward when I talk about Madelyn. In fact, some of them have even shared their own memories of her with me. One friend who often visited while I was in the hospital recently told me that she missed Madelyn too, and she talked of her own memories of hearing her heart beating on the monitors. I was so warmed by this, I didn’t now how to respond. But it meant the world to me to know my friend cared about Madelyn and felt connected to her.

I can’t say I’ve never received a comment that was less than comforting. However, these have been rare, and I know they were unintentional. The people who said these things were trying to help in the only way they knew how, and I appreciate that they cared enough to say anything at all.

I feel blessed to have friends and family who loved Madelyn and who aren’t afraid to let me share my memories of her. She is my baby, and I love talking about her. Even though she isn’t here with me, I am still the proud mommy who thinks she has the best baby in the world. Sometimes it’s difficult to talk about her, but it’s also healing. Please don’t think if I get teary-eyed it is because you said something wrong, and please don’t hastily try to change the subject in an attempt to distract me. If tears fill my eyes, it’s not because I don’t want to talk about her – it’s because I’m missing her.

————–

On another matter, please say a prayer for my friend Wendy. Someone from another part of the country sent her to my blog because our situations were so similar. It so happened that she was my neighbor in the hospital! She had not been there long when I left. Anyway, her baby is scheduled to enter this world on Tuesday November 3, and they have the same concerns we did about Madelyn. Please pray that God will send her strength as her delivery approaches, that her c-section will go smoothly, and most of all that her sweet baby will be ok.

Happy 2 Month Birthday, Madelyn

I once again stand amazed that so much time has passed. My life feels like it has passed in a blur since the night Madelyn was born. As always, we miss you baby girl.

———-

Reconciling my faith with my loss has been one of the hardest parts of Madelyn’s death. I knew God was capable of healing my baby and could have allowed her to stay with us. But He didn’t. On the other hand, I believe God is a God of love and not cruelty, and I don’t believe it was His will to hurt us or take her away from us. However, He could have healed her and did not. And that is where my faith has taken the biggest blow. If He could have, why didn’t He? Miracles happen everyday. Why not for Madelyn? I’ll probably never know the answer, and if God came to my house, sat on my couch, and tried to explain the why to me (assuming there is one), I am 99.9% sure it wouldn’t satisfy me. Scratch that – I’m 100% sure it wouldn’t satisfy me.

I’ll never find meaning in her much-too-soon death. However, I know every life has purpose. Even further, I believe the shortest life has every bit as much purpose as the longest life. It takes some people 100 years to fulfill their life’s mission. It took Madelyn 34 weeks and a day of pregnancy and about an hour and a half of life outside the womb to fulfill hers.

Madelyn was given to Nathan and I for a reason. We were chosen to carry her that her purpose might be fulfilled. I believe it is our responsibility to make sure her life was not in vain.

I may never realize the full impact Madelyn had on this world. What I do know is that she gave my own life new meaning and purpose, and I am so thankful she was given to us.

Video tribute to Madelyn

This video was created for Madelyn by Malory of Every Life Has a Story. Because she is all too familiar with the pain of losing a child (she lost her sweet baby Janessa on 5/14/09), she donates her time and talent to making videos for other bereaved parents to keep as a memorial to their children in heaven. We will always cherish this video made in honor of Madelyn, and we are so appreciative of Malory for it.

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