Tag: Turner syndrome

Journal entry for 5/18/12

This is the journal entry I made on Friday night. I’m still trying to find the right words to describe what I’m feeling this time. It feels, in a way, familiar  yet so very different.
May 18, 2012
It is so hard to believe this is happening again. I don’t feel as shocked, but I still feel heartbroken and wonder why. But the shock has  been replaced by numb this time. With Knox, we were so floored by the loss of a child. It was such a gut check. We’d had 4 healthy boys, although we’d had early losses, it came as such as shock to lose a baby at 15 weeks. When we got pregnant this time we were surprised but delighted. Our delight though, was slightly tainted because we knew that there was no “safe” time during a pregnancy. I was just starting to really let myself hope when we went for our first appointment with Dr. Growney. When we saw a heartbeat I was so happy I cried.
But…
I knew something was wrong. I could tell by what wasn’t being said by the sonographer. I hoped I was wrong. Until I got a call from my doctor setting up an appointment with maternal fetal medicine. But I still hoped. I hoped that it would be unnecessary and that our baby would be fine. While I was concerned about the CVS, I was peaceful that day. Even more hopeful because the NT measurement was down, there was no other edema and our baby looked “good”. I allowed myself to really hope and fall in love with the tiny profile image from the sonogram. I began to dream what the future might hold for our little one.
For 3 days.
When our results came back with Turner syndrome 3 days later I was shocked. A long shot at survival. 1% to be exact. But I still hoped, despite the genetic counselor’s dire outlook. Surely! Surely! We would not be asked to go down through the loss of another child in our second trimester. Surely, this baby would survive. But over the course of 4 days (from results to today), our baby died.
We heard her heartbeat for the last time on Tuesday morning before Kerry left for work. It was gone by Wednesday and today I sat with my doctor staring at her silent chest on a sonogram machine.
My hopes for a live birth, a normal birth, a redemptive birth were gone. I sit here tonight numb, disappointed and confused. Emotionally exhausted from the rollercoaster we’ve been on. Stunned a bit at the irony of it all. Today was Knox’s due date, today was the day we found out his sister died as well.
I don’t understand. I mourn this loss. I know have just as many children in heaven as I do here on earth. I have mourned the loss of as many children as I have rejoiced in their first cries. It seems so wrong and unfair. I don’t know why we’re here again. I was so hopeful for this baby, this pregnancy and this birth. My hope though, is due elsewhere. My hope must be in Christ. It is my God that I have to rely on, hope in and trust. What other choice do I have?
My peace and my hope can’t be based on my circumstances, my pregnancy, or the life of my child. My peace and hope must come from the person of Jesus and His presences in the midst of my pain and my grief. Afterall, He conquered it already on the cross.

Romans 1:17

17 For in it the righteousness of God is revealed from faith to faith; as it is written, “But the righteous man shall live by faith.”

 

Lily's Birth Story

On Friday May 18, I went to the doctor to have baby Lillian’s heart beat checked because May 18 was the day Knox would have been due and I was anxious. Kerry took the boys to the park so they wouldn’t have to wait in the waiting room and because it was a beautiful morning. I was hoping that it would be a quick in and out trip, my fears would be relieved and we would go on and enjoy the day as a family. In my gut though, I had a feeling that I was going down a road I had been on before. A road I didn’t want to be on again.
The nurse practitioner saw me and tried to remain upbeat while she searched and searched for a heart beat. I knew that when she didn’t hear them within a few moments that we wouldn’t be hearing it at all. Dr. G took me for a sonogram and we both anxiously watched the screen. We could see our little baby moving, but only with my heart beat. There was no spontaneous movement on her part and her chest was silent. I think we were both heart broken. I am so thankful that he printed some pictures for us. I really feel thankful for the physician that I have, and it’s only the loss of Knox that ever brought me in to him as a patient. I can’t put into words how grateful I am for what and how he spoke to me that afternoon. It wasn’t just that he was sorry, but he too, was deeply grieved for us. I know that he genuinely cared for me and my husband not as patients but as people.
We were given options about when and how to give birth, Kerry and I elected to go in on Saturday for an induction. Dr. G was going to be out of town, which was my only hesitation, but he assured me the doctor who was covering for him was wonderful and would take good care of us. Indeed he did.
On Saturday morning, we took the same walk we took when we were admitted with Knox. The same admission clerk checked me in and I was in the same room where he was born. I held it together fairly well on that walk past the nursery and to the nurse’s station, until I heard a fetal monitor and a mother being coached to push her baby into this world. I wanted to tell her how blessed she was, how much she should hold that child and just cherish the moments she had, instead I cried and quietly told the nurses who I was and why I was there.
The admission process was pretty much the same, vital signs, IV, orientation to the room and plan of care for the day. My nurses were caring and kind, something that was a bit lacking the last time we were there.
My day nurse called the doctor on call for Dr. G and asked him to come in so we could meet him. He was very nice and although he talked quickly was willing to listen to what we were saying and what our experience was. He was a believer and that was important to us. We talked about things we would do in an effort to avoid going to the OR again this time.
And then we waited. I waited for the medicine (cytotec) to work, I waited for the hours to pass, I waited for the inevitable. My mind telling me that it was okay this (the labor) was happening, it needed to happen, but my heart was so resistant. No matter how much I tried to relax and let the contractions come and wash over me, I could feel  deep down my body resisting because no matter how much this “needed” to happen, it shouldn’t.
My labor was similar to that with Knox, but my progress seemed slow. Around 4:30pm my water broke and I thought that things would move a little faster now. But instead, they seemed to slow down and even move backwards. The contractions didn’t worsen, the medication didn’t seem to have the same effect and still my body fought. I tried talking to myself, I tried talking to Kerry about it, I tried to emotionally process it all, but there was resistance and it’s still hard for me to pinpoint it. It came from somewhere I couldn’t reach with my mind (I realize this sounds a little new agey, but it’s the only way I can describe it). No matter how much I tried, I couldn’t let myself accept this was happening. My nurses commented  that my cervix seemed to be moving up instead of down, that it would come down a bit one time and the next time it would be further up and almost moving backward.
I was discouraged and exhausted by the time my next dose of medication was due at 10pm. The Dr. K had written orders to stop the induction and wait until morning to resume the medication again. I felt defeated, but I didn’t know what else to do. I don’t know what it was about that plan, but it seemed to accelerate my labor. I don’t know if it was the fear that this labor was going to go on forever and that I would be locked in this battle with myself all night or that I just wanted so desperately to be out of this waiting stage, but things started to happen. The nurse brought in some medication to help me sleep, but I had a feeling I shouldn’t take it.
I got up to go to the bathroom one last time before we settled for night and there was a little more bleeding. I mentioned to the nurse that this is kind of what happened before Knox was born, but my cervix was the same and nothing “seemed” to be changing. She had another nurse come in and check the bleeding, but since it wasn’t significant, we decided to keep an eye on things. I don’t know if they called Dr. K to let him know about the change.  I told my night nurse I was going to eat a little pudding and then take the medicine and go to bed. I could only eat about 2 bites and lost my appetite. I shifted my weight in bed and our daughter was born. Just Kerry and I were in the room, it was surprising to me and I was a little shaken up, I wasn’t prepared for it to happen that way. Lillian Faith was born at 10:40pm, she weighed 2.5 oz and 4 1/2 inches long.
I called my nurse, who handled things very well although I was her first “demise” patient (I found that out later). There was another nurse who stepped in for a few minutes, but left pretty quickly afterward. I heard her say “I have to step out”, but I could tell she was bothered by what she was seeing and what was going on. I found out later she was about 8 weeks pregnant and it was understandably emotionally difficult for her to be there. We were able to hold Lily and take pictures. I didn’t get to hold her or sit up as much as I did after Knox was born because I was bleeding a little more, but I’m thankful for the time I did get to spend with her.
One thing that was so striking to us was how much smaller she was. Knox died at 15 weeks, Lily died at 14 weeks. But she looked so much smaller. Her fingers and toes were delicately formed. We could see the tiny ribs, her nose, her little calf muscles that were perfectly formed. It is astounding the perfection of such a tiny body, the creation and handiwork of a great and mighty God. As grieved as we were, and are, we couldn’t help but be in awe of the creation we were holding in our hands.
Dr. K came in and we tried to get the placenta to come. It was painful and it didn’t work. Around midnight my bleeding had increased enough to be concerning and the doctor felt it would be best to go to the OR to avoid a repeat of my stay with Knox (ie blood transfusion, very low blood counts etc). I was disappointed, we only had an hour and a half with our daughter. It felt like minutes and it was hard for me to leave knowing that I wouldn’t be holding her again. Kerry prayed with me before I left. I have been thankful many times over for his spiritual leadership and sheparding during this time.
Dr. K stood with me and talked with me before I went into the OR, after they gave me preop meds I don’t remember much about the actual procedure. They hadn’t given those to be before Knox, so I remember everything until I went under with him. My doctor tells me that there was quite a bit of bleeding we hadn’t seen, so much that even the everyone was a bit surprised my vital signs had remained so stable, but the procedure itself went well. I didn’t lose as much blood as last time and I didn’t need a blood transfusion.
I got back to my room around 2:30 in the morning and we didn’t get much sleep that night. Hospitals aren’t known to be places of rest, there were lab draws, medications, blood pressures and IVs to change. Morning came and I was so thankful to eat breakfast!
I was incredibly sore and very tired on Sunday. Because of the things we had done to try to get the placenta to be born and some complications with bleeding afterward and the subsequent interventions to stop the bleeding, my abdomen was very tender to the touch. I hadn’t taken pain medications after Knox was born, but felt I needed them this time. My doctor didn’t want me to go home because there was some packing to prevent bleeding and he wanted it to stay in for 18 -24 hours. He consented though, if my labs remained normal(ish) and I wasn’t symptomatic (dizzy when getting up) that I could go home around supper time.
We had the same day shift nurse on Sunday as we had the day before and she asked if she could see pictures of Lily and sat with us for a little while in the afternoon. I appreciated my nursing care this stay as it was very different from last time.
Physically I’m doing okay. I’m not as tired or weak as I was after Knox was born. I’m sleeping better, which I’m thankful for. Emotionally the grief is different this time, I’m not totally sure why. I still feel numb and it’s difficult for me to formulate completely coherent thoughts, but I don’t quite feel the same hole in my gut as I did last time. I’m working on trying to put just why into words still, but I do think it has something to do with the lack of shock this time. The grief, though, is still very real.
Kerry and I have talked a lot about trusting that God is still good and that all things He does work together for the good of those who love Him. Romans 8:28 “And we know that God causes all things to work together for good to those who love God, to those who are called according to His purpose.” Sometimes we have to know things even if we don’t totally feel them. It’s hard for me to see that good can come from losing a second child in 6 months. It’s hard for me to understand, but I know that God is faithful and I know that He has a purpose for bringing us down this road again.

Psalm 139: 13-16

13 For You formed my inward parts;

You wove me in my mother’s womb.

14 I will give thanks to You, for I am fearfully and wonderfully made;

Wonderful are Your works,

And my soul knows it very well.

15 My frame was not hidden from You,

When I was made in secret,

And skillfully wrought in the depths of the earth;

16 Your eyes have seen my unformed substance;

And in Your book were all written

The days that were ordained for me,

When as yet there was not one of them.

 
 

May 18, 2012

Today is a significant day. Today was the day Knox was due. Today is also the day we found out our daughter Lillian Faith has died.
We have been praying for her from before her conception. We prayed fervently for her life, her growth and her soul. This week we were told she had a chromosomal defect called Turner Syndrome, meaning she was missing a sex chromosome. 99% of the babies with Turner syndrome die before they reach term. We were praying our daughter was in the 1% who survive.
We were hopeful because she wasn’t showing signs of distress, such as fluid build up around her organs or in her brain  and she didn’t seem to have heart dysrhythmias. We heard her heartbeat for the last time on Tuesday morning when Kerry and I listened together before he went to work.
I have “had a feeling” the last 2 days that something was amiss, but I dismissed it as paranoia and anxiety because I was approaching the same time in my pregnancy when I lost Knox. My very understanding doctor said I could come in any time to have heart tones checked and check on baby. I went in this morning while Kerry took the boys to the park.
We searched for the heart beat with the doppler initially and when we didn’t find it, we did a sonogram. There was our perfect baby, her only movement was with my pulse and no heart beat. My heart is broken. I feel so numb, so wronged and so empty.
We have elected to have an induction tomorrow morning. I could have surgery instead, but I want the opportunity to hold my daughter. I want the option to look on her face and not just an outline from a sonogram. My heart needs that. We ask for prayers for a quick, safe and uncomplicated birth. My birth with Knox was fraught with complications after he was born and I would like to avoid that again. I am also praying for compassionate nurses.
We don’t know medically why Knox died. We didn’t have chromosome studies (as we already had 4 healthy boys) and there was nothing obviously wrong after he was born. We know medically why Lillian has died, but it doesn’t make it easier. We don’t know why God has taken either of them, why we are walking through such sorrow. We don’t know any of it. But we have to trust that He has a purpose. I may not know it for years, I may never know why. But I believe God has a purpose. I believe that He knew the outcome of this pregnancy from the moment He created it, when He was knitting our daughter together in my womb.
My grief is deep, my pain is intense. I get angry at the injustice of it all. I am jealous of the mothers who will get to hold their babies today, while I will sit with empty arms for a second time in 6 months. It seems unfair, it seems cruel, it seems so very wrong. But we believe that God is faithful, we believe that He loves us and the children He has created. We believe that He will carry us through and give us strength.
I am reminded after Job suffered terrible losses of family and property. Job 1 20-22
20 Then Job arose and tore his robe and shaved his head, and he fell to the ground and worshiped. 21 He said,

“ Naked I came from my mother’s womb,
And naked I shall return there.
The Lord gave and the Lord has taken away.
Blessed be the name of the Lord.”

22 Through all this Job did not sin nor did he blame God.
 
 
 

Scattered

Very little of what I’m thinking and feelings seems like it can be put into a cohesive thought today. I find myself oscillating between grief and joy, fear and peace, being “okay” and crumbling in despair. I can’t quite make sense of it all and instead I’ve scribbled one liner thoughts today. I want to flesh them out a bit and make them make sense. To explore them and find out where they go in my mind. So instead, I’ll share some of the verses I’ve been reading and meditating on the last few days.

Psalm 18 : 30-31

30 As for God, His way is  blameless;

The word of the Lord is tried;

He is a shield to all who take refuge in Him.

31 For who is God, but the Lord?

And who is a rock, except our God.


Psalm 13:5-6

5 But I have trusted in Your lovingkindness;

My heart shall rejoice in Your salvation.

6 I will sing to the Lord,

Because He has dealt bountifully with me.

 

Lamentations 3:19-26

19 Remember my affliction and my wandering, the wormwood and bitterness.

20 Surely my soul remembers

And is bowed down within me.

21 This I recall to my mind,

Therefore I have hope.

22 The Lord’s lovingkindnesses indeed never cease,

For His compassions never fail.

23 They are new every morning;

Great is Your faithfulness.

24 “The Lord is my portion,” says my soul,

“Therefore I have hope in Him.”

25 The Lord is good to those who wait for Him,

To the person who seeks Him.

26 It is good that he waits silently

For the salvation of the Lord.

31-38

31 For the Lord will not reject forever,

32 For if He causes grief,

Then He will have compassion

According to His abundant lovingkindness.

33 For He does not afflict [j]willingly

Or grieve the sons of men.

34 To crush under His feet

All the prisoners of the land,

35 To deprive a man of justice

In the presence of the Most High,

36 To  defraud a man in his lawsuit—

Of these things the Lord does not approve.

37 Who is there who speaks and it comes to pass,

Unless the Lord has commanded it?

38 Is it not from the mouth of the Most High

That  both good and ill go forth?

 

Philippians 4: 6-9

6 Be anxious for nothing, but in everything by prayer and supplication with thanksgiving let your requests be made known to God. 7 And the peace of God, which surpasses all comprehension, will guard your hearts and your minds in Christ Jesus.

8 Finally, brethren, whatever is true, whatever is honorable, whatever is right, whatever is pure, whatever is lovely, whatever is of good repute, if there is any excellence and if anything worthy of praise, dwell on these things. 9 The things you have learned and received and heard and seen in me, practice these things, and the God of peace will be with you.

 
Please continue to pray for our precious daughter Lillian. That she will live to be born at term (in November) with a healthy heart.

Her name

Long ago in a world far far away, when Kerry and I were dating we picked baby names. We knew we were getting married, we hoped for children and we had a long drive back to Manhattan from visiting home. The wedding planning was done, so we talked baby names.
We were married when we were 19 and our first son was born 17 months later in November. We used the first boy name we had on our list. Gabriel David was born on November 22, 2002. He was born 3 weeks early because I had a pregnancy induced rash that was miserable! He weighed 7 lbs 1 oz and was 20 3/4 inches long.

Two years and a day later our second son Otto Daniel was born on November 23, 2004. We took a little longer picking his name, in fact we hadn’t decided completely on it until the night before he was born. He was much smaller than Gabe at 6lbs 9oz and 17 1/2 inches long (our nurse and sister Kristi measured him 3 times to be sure). As our siblings got married and had children we hoped they wouldn’t us our girl name. In fact, I think it was kind of an unwritten rule that this name was “ours”…don’t touch it. 🙂

On November 19, 2008 we welcomed our 3rd son Ezekiel Jackson. He was our first “non-Kansas” baby and also our biggest at 8lbs 6 oz. After 4 years of not having an infant, we were delighted to be back in this stage of babyhood again.

Titus James is our “odd ball” not being born in November. He was born August 26, 2010 at home before the midwife got here. He weighed 7lbs 11oz and was 20 inches long. He had the most hair of all my boys. I should point out that ever since Gabe was born, Kerry had been waiting and wanting to use the name Titus. I joke I consented because I was running out of ideas after the first 3.

On December 3, 2011 we had another son, Knox Cornelius. We were blessed to be pregnant with him for 15 weeks. We anticipate the day we get to meet him when we go to Heaven. I have lost 2 other children early on in my pregnancy, one in October of 2003 and one on November 15, 2009.

After waiting for over 10 (almost 11) years we will get to use our girl name. Our daughter’s name has special meaning to us. She will be named after Kerry’s Grandma Plett who died in Spring of 2007. She was a special lady and had such faith. We celebrate her and the legacy she and Grandpa Plett passed on in their family. The love, faith and trust in God. The love shared. Our daughter’s first name will be Lillian. I should note here, that we generally do not share names before our babies are born simply because we don’t want to invite commentary. However, we want to share her name now so that you can pray along with us for our daughter by name.
Her middle name will be Faith. We have relied on God for this baby, we have trusted Him and we have praised Him. We rejoice, but with the diagnosis we received this week I find myself needing the faith so much more. Faith that God will help us navigate this path, faith that He won’t bring us to anything we can’t handle.

God is faithful, He will do what He says He will do, He will be with us every step of the way. I trust that God has a purpose for this journey, even if I don’t know why. I know that God has knit this baby together in my womb for our family. He created our daughter for us to care for and love, for however long that may be. I still struggle with fear about what lies ahead for us, I still struggle to understand, but I have to give each of those things to Him. He knows and He helps.
Thank you God for our daughter Lillian Faith.

How you can pray for Lillian today:

  • Pray that she will be born alive and at term (in November)

  • Pray that she will have a healthy heart and won’t have any heart defects

  • Pray for peace and understanding for me

  • Pray for wisdom for the doctors

Lamentations 3: 19-26

19 Remember my affliction and my wandering, the wormwood and bitterness.

20 Surely my soul remembers

And is bowed down within me.

21 This I recall to my mind,

Therefore I have hope.

22 The Lord’s lovingkindnesses indeed never cease,

For His compassions never fail.

23 They are new every morning;

Great is Your faithfulness.

24 “The Lord is my portion,” says my soul,

“Therefore I have hope in Him.”

25 The Lord is good to those who wait for Him,

To the person who seeks Him.

26 It is good that he waits silently

For the salvation of the Lord.

1%

Our baby has a 1% chance of survival in utero. If she makes it to birth, her prognosis is actually fairly decent with good medical care (for things like hypertension, hormone replacement and osteoporosis as she gets older).
It’s amazing how much that 1% means, and how much it changes perspective.
When I had a home birth after 3 c-sections almost 2 years ago, there was just under a 1% chance that my uterus would rupture. I was comfortable with those odds. I didn’t think the 1% would apply to me, we were in the 99%.
When we elected to have the CVS test last week, there was just under a 1% chance that the procedure would cause the baby to die. We were okay with those odds, especially after we saw the position of the placenta and the baby. We were in the 99%.
We got the phone call yesterday that our baby has Turner syndrome. She is missing all or part of a sex chromosome. We were told 99% of babies with Turner syndrome die before they reach term, most of them die by 26 weeks gestation. We are praying for the 1%.
I am a bit fearful though. What if I prepare for the 99% and she is in the 1%, what if I spend my whole pregnancy expecting her to die and she doesn’t? Will I still bond with her? On the other hand…what if I prepare for the 1% and she is the 99%? I’m not sure I can handle that sinking feeling emotionally and that shock that would come. The thing is, we don’t know.
It’s all about perspective isn’t it…that 1%? The 1% is easy to push aside when we’re hoping for the 99%, but for us…I am begging, clinging and praying for the 1%.

For those who have been asking you can specifically pray for the following:

Pray for a live term birth for our baby (we want to be the 1%).
Pray for a healthy heart for our baby.
Pray for peace for me as I am struggling right now to make sense of this all.
Pray for wisdom for our doctors.

Psalm 31:22-24

22 As for me, I said in my alarm,

“I am cut off from before Your eyes”;

Nevertheless You heard the voice of my supplications

When I cried to You.

23 O love the Lord, all you His godly ones!

The Lord preserves the faithful

And fully recompenses the proud doer.

24 Be strong and let your heart take courage,

All you who hope in the Lord.

 

Our diagnosis

We got the call from the genetic counselor today. Our baby has been diagnosed with Turner syndrome. Which means the baby is missing all or part of (we won’t know until the “full” test is back) a sex chromosome. It also means our baby is a girl.
99% of babies with Turner’s syndrome die before 26 weeks gestation. I am currently 13 1/2 weeks. Of the babies who survive they will be short (like this baby was going to be tall anyway), infertile and are at risk for heart defects and learning disabilities. We will  probably have “viability” scans every few weeks for the remainder of the pregnancy. The chance that this will recur in future pregnancies is less than 1%.
To be honest I am devastated, hurt and angry. I don’t get it and the thought of losing another baby is almost too much for me to bear right now. I don’t know whether to get maternity clothes out or keep them packed away. I don’t want to have to put them back like I did after Knox. I don’t want to wake up every day for the next 13 weeks (until I get to 26) and wonder if my baby is still alive. I don’t want to go through the grief of losing a baby before I get to hold her. I don’t want to have to explain to my children that their baby sister has died. And even if we make it to 26 weeks we aren’t safe. I don’t want to have to preface every sentence about the baby with “If she survives…”. But if she survives, I don’t want to worry about whether she’ll find a husband who is okay with not having children.
I just plain don’t want to walk down this road. I so wanted to hear “everything looks good”. But I didn’t. I don’t know why God is bringing us here. I don’t understand. Like Kerry said “The doctors didn’t give us much hope, so we can only hope in Him.” And it’s true. Talk about being brought to the point where we fully have to rely on God. I have to trust Him for peace, for the life of my unborn child and for what lies ahead. Right now I am thankful that my baby is alive today, I pray she will be alive tomorrow too. I am thankful we have answers. But I am struggling to understand and to process this all. I don’t have anything but tears and raw emotions right now.
Thank you for praying.

1 Peter 5:6-7

6 Therefore humble yourselves under the mighty hand of God, that He may exalt you at the proper time, 7 casting all your anxiety on Him, because He cares for you.