Left Waiting and Anticipating

They say that time flies by and in a blink of an eye time has passed, but I feel as though I am in this weird video game stuck on a pause button.  Days seem like months and hours seem like days.  On Monday, I got the work that the amnio cells have grown and been cultured enough to be stable to send out to the respective labs for testing.  They said to expect 3 weeks and there may be a chance of getting results in 2, but expect 3.  We are left to wait and wait.  Patience has never been a virtue of mine.  I constantly hit the refresh button on the computer.  Instead I am left to wonder and let my mind go astray.  As I have accepted the OI disorder, future, treatments, and got connected with a group of parents, I am left with this sinking feeling that it will come back with the campomelic dysplasia.  A heart breaking diagnosis without a good outcome.  I have told many I had weird feelings about a second baby before we even got pregnant, tried to shake them, and told I was crazy.  It has continued throughout this pregnancy with comments made to my OB, etc.  Three weeks ago, my fears were confirmed.  So I dread what feelings will come true this time.  The guilt is overwhelming at times, feeling as though I wished this on us.

            In addition, we face another ultrasound on Friday.  As the day draws closer, I feel my heart beat faster with palpitations and worry.  Instead of looking forward to seeing my sweet baby girl and seeing how she has grown, I find myself terrified and dreading what else they will find this time.  I want so much to find the joy in having the ultrasound, but instead worry about what ifs. 

I continually read cards sent by friends and delve into the devotional sent to me.  Ironically today’s reading states “Ask my spirit to control your mind, so that you can think great thoughts of Me. Do not be discouraged by the fact that many of your prayers are yet unanswered.  Time is a trainer, teaching you to wait upon Me, to trust Me in the dark….Instead of letting difficulties draw you into worrying, try to view them as setting the scene for My glorious intervention.  Keep your eyes and your mind wide open to all that I am doing in your life.” I hold tight onto this.  Please continue to keep us in your thoughts in the next coming days. 

approved!!

Insurance approved the testing for Osteogenesis Imperfecta and Campomelic Dysplasia.  While it will still be a few weeks for results, we may be closer to having an official diagnosis and being able to plan and prepare for treatments better.  Meanwhile I am getting connected with other OI parents as that is still the running diagnosis, boy what a sense of openness and comfort they have provided.  I know that I will be able to ask them anything and have peace that I will not be the first to face this journey. 

Be Joyful in hope.
Romans 12:12

Answers we'll never know

There are times I sit here and struggle still with the why us and scream out in despair.  I found this poem that speaks right to my heart and has helped me.

When We Ask Why

God's beautiful plan

Is sometimes concealed,

But someday His purpose

Will be fully revealed.

Someday God's wisdom

Will make very plain

Why problems were permitted

And how He uses pain.

We'll see the Lord's purpose

From Heaven's point of view,

And we will understand

In ways we never knew.

Till we are home with God

Some answers have to wait.

"Lord, we'll trust and obey-

Lord, help us walk by faith."

-Perry Tanksley

I also struggle with jealousy of friends who are expecting babies and everything is "normal".  I am so happy for them, yet sad for us that we will have a new normal.  I hate to think that Paige is something sad in my life.  I know she is not, but I am sad to think of things she will miss out on in life.  I still try to focus on the ability in what may be her disability.  When I pray, I pray for her not for us.  I guess that is a mother's instinct in I want to protect my babies more than worry about myself.

Status Quo

Today was another day of aniticipation and awaiting for news. We were expecting the rest of our amnio results. After trying to work all day and be productive, we finally received news that structurally all the chromosones look normal. Basically that tells us that there are not three of any chromosones or missing/extra parts or pieces. That is what our Dr. and genetics counselor expected to see on the results today, so no change. The amnio is a basic analogy to a house. On the outside the house looks great, but what is on the inside could be a whole different story. Just like doing a house inspection there are all these nooks and crannies things issues could hide. While this gives us some good news in that it eliminates some conditions, there are still many lurking out there.

The main running diagnosis at this time still is the Osterogenesis Imperfecta (OI). The office contacted a lab that specializes in testing for genes that specialize in collagen mutations (as that is what is lacking/or altered form in OI). And while there are a handful of conditions that can be affected by collagen and mutation of genes, upon speaking to them, our counselor said they agree that as it presents clinically it looks like OI. They have agreed to test our sample. A second lab was contacted regarding a different possible diagnosis, campomelic dysplasia. At this point everyone agrees that it is pointing towards OI but since accruacy is pretty good on this disorder it would be an easy rule out.

The kicker to these tests is that they are extrememly expensive. At this point we are at the mercy of the insurance company now. The doctor and counselor are presenting their case to the insurance company on additional testing and we await their verdict. They feel pretty good on their chances as these tests will affects management of this pregancy and all future pregnancies (i could never imagine going through this again, but the insurance company doesn't need to know that). They go to the insurance tommorrow and hope to hear back soon. The tests then can take up to 3 weeks for results. More waiting. As you all know I am probably one of the least patient people on earth.

In the meantime, I have a regular OB check up Wednesday with nothing special going on there and I moved our ultrasound up to Aug 31 with the perinatalogist in Grand Rapids. Here we will be able to see if there are any more breaks, abnormalities of bones, or growth of bones slowing. Growth could drop off at any point or stay on track, no one can tell. I used to love ultrasounds and now I am terrified of them.

We are extremely thankful for all the prayers, words of encouragement, letters, dinners, cards, on and on. We can't believe how many people out there are praying for Paige. While we will never know in this lifetime why God has chosen Paige and us, we know why all of you are a part of our lives. When I feel down and can't being to think how I will face this challenge, a sign from one of you comes in time.

Meanwhile here is a view of our sweet Paige.

Our world spinning

Life isn’t always sunshine and roses I know that, but when you are pregnant it is all supposed to be roses.  Well that is after the first trimester of morning sickness.  I made it to the second trimester and feeling good, feeling the baby kick, and was excited about our future as a family of four.  We had our 20 week ultrasound last week and was so excited about seeing the baby move, roll away from the technician and play with its feet.  We varied quite a bit on whether we would find out this pregnancy if it was a boy or a girl and in the decided to be surprised.  Instead I focused on the heart and making sure all was okay there.  We left the appt, happy to finally get a glimpse of that little bundle of joy. 

            All was going well until my OB walked into my office on Thursday to talk about the ultrasound.  I immediately knew something was wrong.  He said that the femurs were measuring short and he was referring me down to the specialists in Grand Rapids.  He said to expect a call from them today or tomorrow.  Immediately my heart sank and it was all I could do to call Chuck and let him know.  Well we got an appt the next day and made the trek down to GR.   When we first went back we had to meet with the genetics counselor, in my head I thought this really couldn’t be good.  I knew from some reading that it could possibly be down’s so I preparing for that.  After taking our history and her explaining a few of the possibilities she said we would have a more in depth ultrasound.

Back in the room, grasping tightly to Chuck’s hand I studied each measurement that the technician took.  She said that the femurs are bowed on both sides, also that the chin looked a little small. 

            The doctor came in and redid some measurements and discussed the findings.  He was very straightforward and honest.  But I distinctly remember him saying “at this time we do not think this condition is lethal”.  What??  I knew it wasn’t good but didn’t think it was that bad.  He said right know he thinks the condition is osteogenesis imperfecta, a type of skeletal dysplasia.  It is also known as brittle bone disease.  Their bones are extremely fragile and can break under the slightest of circumstances.   I then had an amniocentesis and we left GR under a complete daze/fog/despair for the weekend.  We drove home in tears and I threw up multiple times.  How could this be? Why us?

            The weekend was nothing but a blur to me, I could barely breath. We could barely function; Mallory went to Grandma’s so she wouldn’t have to see us cry anymore.  I told her baby had a boo-boo and she kissed my belly and put her doggie gel pack on my belly to make it better.  Oh honey, I wish it was that easy. 

On Monday we got some early results and the baby doesn’t have Down’s or Trisomy 18 and they reanalyzed the ultrasound and think her femurs are broken.  And it was confirmed that we are having a girl.  We named her Paige Elizabeth over the weekend.  Our little sweet PEA.  We are currently left waiting on more results this coming Monday from the amniocentesis, but have been told this condition doesn’t show up and it is up to the insurance company to test for this condition.  I can at least hold my baby close, but Chuck can’t get that attachment to her, he is still unable to feel her kicks.  We are left wondering if each kick is breaking another bone.  I am left wondering if this will be the last kick I feel. We are left wondering why and at times screaming in anger towards God.  I feel as though I am walking under a huge black rain cloud just over our heads.  I keep trying to find the rainbow (God’s answer) but have yet to see it.  We are left wondering if our child is suffering or in pain and we can’t protect her.  So many questions without answers.  All I can do is ask for help in prayers and provide support for us. Although we feel alone and lost, I know there is support out there from family and friends.  We appreciate it.