Build-A-Bear

Doug and I started a tradition when we were expecting our first baby, Elizabeth.  We obtained a recording of Elizabeth's heartbeat.  Then we went and built a bear with a sound box in the chest.  Every time you press the button you can hear Elizabeth's heartbeat.


The idea was that the next time we got pregnant, Elizabeth would be able to help make the next animal.  It was with mixed excitement and grief that we went to the Build-a-Bear workshop in 2009 to make an animal for Rachel.  Again, we obtained a recording of her heartbeat to personalize it even more.


In January 2011 we returned for the 3rd time to build a bear.  This time Rachel took a leading role in helping make this special toy for Joseph.


We were thrilled to have a 3rd heartbeat to add to our collection.


On August 13th we went as a family to build a bear for Lucy.  The kids showered Lucy's monkey with love and affection.



And now we have a sweet set of four.  Four children, four heartbeats, four toys, four times the love.

Lucy Danielle Goodwin

We have been thinking about names since the moment we knew we were having a baby.  We originally chose to name our daughter Charlotte Jessica Goodwin.  Charlotte is Doug's Mother's name.  Jessica, obviously, is my name.  But, when we received the diagnosis of Campomelic Dysplasia we were hesitant to go forward.  We were concerned that it might be hard for us and others to see the name Charlotte and the name Jessica on a headstone.

So, we went back to the drawing board.  In my search for the perfect name I ran across the story of Daniel in the Lion's Den.  The short version is that Daniel was thrown in the Lion's Den and left overnight.  They expected him to die.  The next morning they returned to find that he had been miraculously saved.  What a beautiful analogy to my darling baby.  She is in her own den of lions.  The medical community expects that she will not survive.  But, through faith and miracles we may yet have a little time with her before she returns to her heavenly home.

We chose Lucy because we simply liked the name.  On further inspection we realized that one of our favorite figures in LDS history is Lucy Mack Smith.  Lucy, from what I remember, was not even 5 feet tall.  Yet she embodied what Alma described, "by ^bsmall and simple things are great things brought to pass; and small means in many instances doth confound the wise."  Faith and miracles were Lucy's constant companion.  How fitting is the name Lucy?  Our little Lucy's limbs are already short for her age.  And, we expect that faith and miracles will happen in her life and ours.  She may yet "confound the wise."

We are excited to have Lucy Danielle Goodwin as part of our family.  No matter the outcome.  No matter how long she lives.  No matter what others may think.  Lucy is a miracle and a blessing.  We will celebrate her life for years to come.

Dr. Kaelberer

Dr. Rose (our perinatologist) is out of town.  The first appointment we could get with her was August 13th.  It is difficult waiting with so many unanswered questions.  But, we were able to visit with Dr. Kaelberer today which was helpful and comforting.

Finding Dr. K was a happy accident.  We wanted to start a family soon after we were married.  We figured that we would need to start with a visit to an OB.  Dr. K was the closest doctor to us with an opening.  I'm not usually that flippant about finding a doctor.  He watched over us during Elizabeth's pregnancy.  Elizabeth was delivered by a high risk doctor at a hospital with which Dr. K was not affiliated.  He delivered both Rachel and Joseph.  He takes the time to answer questions and always makes us feel like his favorite family.

Dr. Kaelberer is kind and sensitive.  It was reassuring to talk to him about our current situation.  He says that every time we see Dr. Rose she calls and talk with him at length.  We asked if we should visit another perinatologist while she is away.  He said that Dr. Rose is the absolute genetic guru and not to waste time visiting anyone else.

We learned today that Dr. Kaelberer will be the one to deliver our special baby.  And, to our relief, she will not require the drastic C-Section that Elizabeth needed.  With Elizabeth they made an upside down T incision, extra wide and tall, so they could just lift her out.  Remember they thought she had Osteogenesis Imperfecta and would break with a regular delivery.  He will need to be careful with this delivery.  It will probably require and extra wide incision.  But, it should still be easier.  The goal, as always, is to deliver the baby at an optimum time for her and for me.  The goal is 37 weeks.  Elizabeth came at 33 weeks.  Doug and I expect that baby girl will probably come somewhere between 33 weeks (October 20th) and 37 weeks (November 17th).

As for future children...We will have to wait and see.  Dr. K can tell us during the delivery whether my body/uterus can handle another pregnancy.  Dr. Rose will help us from the genetic side of things.

The Long Trek Home

Texas was just the distraction we needed.  We enjoyed being with family and doing something completely different.  But, like all good things, it had to come to an end. 

On Wednesday afternoon we drove to Lubbock, TX planning on driving from there to St. George, UT the next day for a funeral on Friday.  Our car had other plans.  On Thursday, 15 some odd miles from Santa Rosa, NM, during the heat of the day, the car broke down.  We were towed to Santa Rosa and 24 hours later we were on the road again.  A couple of hours into day 3 of our trek home we received a call from our genetic counselor.  The results were in.  Our baby girl has the same genetic mutation on the SOX 9 gene (located on one of the X chromosomes).  Our littlest has Campomelic Dysplasia.

We were 12 hours drive from Texas, 12 hours to Utah.  Paralyzed with sadness.  We called our parents, texted many friends and family members, posted the news on FaceBook and began praying we would be able to move.  Prayers were being said by friends and family all over the world.  We made it to Cortez, CO by willpower and prayer.  And on Saturday, Day 4 of our trip, we arrived home safe, sore, sad and so relieved.

You are probably wondering, "What's next?" 

Well, this week we will meet up with MFM for another ultrasound.  We will meet with my regular OB.  I am 20 weeks pregnant.  There are 17-18 weeks to go.  We will pray and pretend that nothing is wrong.  We will play in the park and watch movies.

After this week we should have answers to some of our questions:
"What happens now?"
"What is the likelihood that our sweet baby girl will live?  How long?"
"What kind of life would she live?"
"Will the C-section be drastic like when Elizabeth arrived in the world or standard?"
"If I carry the baby to term will my body be able to host another child?  Or is this it for our family?"
"If I am able to have another baby is there any way of ensuring that the next child does not have the same Campomelic gene mutation?"
...
I will post more information as I receive answers.

It's A Girl!

The genetic counselor called on July 9th.  The chromosomes look normal and we are expecting a baby girl.  This is significant because the ultrasound showed girly parts but if the chromosomes had been boy then it would have been almost guaranteed that the baby have Campomelic Dysplasia. 

So now we are just waiting to hear back from Johns Hopkins.  If the SOX9 gene shows as normal then they will send more cells to be tested for Osteogenesis Imperfecta.  We are still praying for a miracle for our miracle girl.

Meanwhile we get to start choosing a name.

Amniocentesis and Our Escape

We returned to MFM on June 28th for the scheduled ultrasound and amniocentesis.  We were thrilled to learn that some of the hydrops had gone from the baby's body.  Nothing had changed other than that.

I was prepared for the amniocentesis.  I had an amnio when I was pregnant with Elizabeth.  It was the easiest procedure I'd ever had that included a needle.  It was far easier than getting my blood drawn.  It turns out that it is easier when you are further along in the pregnancy.  With Elizabeth I was around 28 weeks.  This time I was only 17 weeks.  It was definitely more painful.  But, I'd still say that it is easier than getting my blood drawn.  And speaking of blood.  I was ecstatic (note the sarcasm) to find out that I needed a bunch of blood drawn at the same visit.

I went down to the lab where a young man named Brad invited me back to prep for my blood draw.  He had a lady shadowing him and a glance at his badge revealed that he was a student phlebotomist.  I told him that he was welcome to feel my veins but that I needed the best person on staff to do the actual draw.  The shadow lady introduced herself and began feeling for good veins.  A few minutes later she says, "you really DO have difficult veins."  She had 2 options but didn't feel secure about trying either of them.  Thankfully she was able to get it on the first stick.

Now the waiting begins, or continues.  It will take 1 week to grow the baby's DNA cells.  Then it will be a week or two to get chromosomal results (i.e. downs syndrome, turner syndrome, gender, etc.).  The cells will be sent to Johns Hopkins to be tested for Campomelic Dysplasia.  It's just a waiting game.

We finished up at the hospital and headed home.  We gathered up our children.  We finished gathering our stuff.  Then we began the 22 hour drive to my parent's house in Texas.  Rachel and Joey were amazing.  Nobody complained until the last 15 minutes of the drive when Joey had had enough.

We've been enjoying the distraction family has provided.  Doug has been working from an office in my Dad's office.  My dad's office is on a large plot of land.  We use their 4WD cart to drive to and fro from one house to another.  We are so busy having fun that we haven't spent a lot of time worrying about the results of the test.

What?!

On May 10th we went to our first prenatal doctor's visit.  Our doctor, Dr. Kaelberer, was thrilled for us.  He wasn't able to get a good view of the baby and a definitive measurement so he scheduled a follow up ultrasound for June 10th.  On June 10th we were 14 weeks along.  It should be easy to get a good measurement of the baby.  Plus we were hoping to find out the gender. 

The sonographer spent a lot of time with us.  We heard and saw the heartbeat.  We watched as the baby wiggled and danced.  It was wonderful.  I was completely thrilled to see my little one on the screen.  We went into our room and waited for our doctor to join us.  This would be the first indication of something being not quite right.  After only a couple of questions about my health he asked what the chances were of a recurrence of Campomelic Dysplasia.  I told him 1 in 1000.  Not spectacular odds but certainly not likely.  Besides we already have 2 perfectly healthy children at home.  Dr. Kaelberer explained that there was a thickening on the back of the baby's neck and something might be wrong with the legs.  My elation fell into horror.  Not again!  What Doug hadn't told me was that some of the long bones were already measuring short.  That was the first indication that something was wrong with Elizabeth.  Dr. K looked frightened and wanted us to meet with Maternal-Fetal-Medicine (MFM), the high risk pregnancy unit, as soon as possible.  They scheduled us for the first open appointment -- July 3rd.

Two days later we received a call from MFM.  Dr. K had spoken to the head of MFM, the doctor that had worked with us before Elizabeth's birth, Dr. Nancy Rose.  Dr. Rose was going to come in early the next Monday to squeeze us in!  I was partially thrilled, and very nervous.  Dr. Rose wouldn't be coming in early unless there was something to be concerned about.

On the morning of June 17th we began our incredible journey.  The sonographer spent a large amount of time and even took 4D pictures of the baby.  It was easy for us to see that the baby's femurs (long leg bones) were fragmented and that the legs were twisted.

Dr. Rose came in and lowered the boom.  She showed us how the baby had hydrops, a condition where fluid collects in the body under the skin and other places it shouldn't be.  Hydrops is often an indication of heart defects.  It often accompanies chromosomal abnormalities and diseases like Downs Sydrome, Turner Syndrome and others.  She showed us the thick neck skin.  She showed us the broken bones then told us that she was almost positive that it was Campomelic Dysplasia.  I was too stunned to cry. 

Elizabeth had a mutation on her SOX-9 gene that Johns Hopkins had never seen before.  Our blood was tested to see if were were carriers of that mutation.  We did not have it.  I thought that having another CD baby was virtually impossible.  She informed us that there is a rare thing called gonadal mosaicism.  When this happens the DNA in the individual's blood is different from the blood in the reproductive organs.  Meaning that the DNA Doug or I live with is possibly different from the DNA we give our babies.  What?!

The next step was to get an amniocentesis.  The wrench in the works is that between 14 and 17 weeks is the time that the amniotic sac fuses with the placenta.  An amnio cannot be done until the fusion is complete.  So we scheduled a return visit for June 28th (11 days later).