Tuesday, April 29, 2014

GROW baby, GROW!

Well, our littlest bird is causing a fuss again.  Since my last blog update we have found that the panel that was supposed to confirm Achondroplasia did just the opposite, it confirmed we were NOT dealing with Achondroplasia.  So just as life was feeling happy again, now they tell us there is "reason for concern".  Still, Sophia is doing ok in there... she is tiny at "aprox 2lbs 3 oz", with "tinnie tiny long bones".  They can not find any real tips as to which type of Skeletal dysplasia we are dealing with.  At this point, the plan is to hope for the best, and have the hospital take xrays after Sophia is born.  We will then have the Xrays sent to Nemours Skeletal dysplasia team who will hopefully be able to give us a diagnosis.... or at least some insight!  (Actually, our info is being sent all over, trying to find someone who maybe has seen the same growth pattern Sophia is following... maybe... just maybe... )

Sophia's biggest hurdle right now is her chest circumference.  Her little rib cage needs to grow!  Right now there is enough room in there for her little heart and lungs, but we need to maintain that chest size.  We need her to grow!

Grow little Bird, GROW!

Wednesday, April 2, 2014

Welcome to Holland, by Emily Perl Kingsley -- for new parents


The Diagnosis, and Emotions.

I really have no idea where to start.  Writing has never been my thing really.... But here we go.

I have never been good at Pregnancy... never claimed to be.  But, pregnancy brings beautiful babies, and when us women get baby fever there is really no stopping us.... right?  So we started trying for a second baby... Skipping forward a few long months and an early miscarriage and finally, we got a positive that stuck!

Then came the sick months which involved wonderful HG, gastroparesis, a kidney infection... and few trips to the ER.  No fun.  At about 18 wks I started to feel a little better, and was able to start living again.  We planned a "gender party" a few days after the ultrasound where we would announce the gender to our family.  What fun!

We finally got to 20 wks!  Yayyyyy, right?  We were refered to a MFM for our 20 wk scan, because I had lost 10+ lbs.  The midwives said I'd only have to go there once as long as they didnt find anything concerning.  I agreed to do it but didnt want to continue the MFM after the ultrasound.  Everything was just fine.  I was sure.  I was just excited to see if my baby was a boy or girl.

The night before the ultrasound I couldn't sleep, I was so excited.  We woke up the morning of our 20 wk ultrasound.  It was so cold out.   We bundled up, and prepared to go find out what our baby was!  I knew baby bird was healthy.  Cassidy was healthy, and I was much sicker... my nutrition was much worse during her pregnancy.  This pregnancy has been easy comparatively.  It will be fine.

We climbed the three floors of stairs to the MFM.  It was flu season, and I wouldnt risk that elevator germs.   Exhausted, I sat down and waited to be called in.

"Carrie".  I got up and followed the ultrasound tech, my heart was beating fast.  My wonderful husband followed.  I laid down and they started putting the goo on me.   Little bird was moving and shaking!  She was full of energy that morning.  She did not want to cooperate with the ultrasound tech... maybe that can of Dr. Pepper wasn't a good way to start the day... everyone says "make sure you eat some sugar so the baby moves enough for you to get a gender shot"... yeah, not the best advice.

As I lay there watching the measurements on the screen I could tell something was not right.  16 wks... why does it say 16 wks?  I am 20.  but wait, the head is 21?  the abdomen is 20?  hm.... well, must be a small baby from my kidney infection... or the gastroparesis.. I hadnt been eating well.  I'd been so sick.  Surely that was it.  The tech clicked away, measuring, remeasuring... back to the kidneys... back to the leg, arm... more placenta pics.  Hm... The tech got quieter and quieter.  We thought she was irritated with us. Did I have to mention the Dr. Pepper?  Did I make her mad because the baby keeps moving?

She left to review the measurements with the Doctor.  The doctor would be in we were informed.  I told Steve "dont worry dear if they tell us the baby is small.  The measurements looked small.  I am sure it was just because of that kidney infection.  Dont let them scare you".  I was bracing him.  But still, everything was fine.

The Doctor came in a few minutes later and wanted to do his own scan.  Now, this is when I started to worry.  The doctor... scanning for himself?  hm. 

The next conversation is somewhat a blur, but the limbs were short, the kidneys were big, placenta was marginal.  "This could be IUGR, or it could be a chromosomal disorder like Downs syndrome.  It could also be a skeletal dysplasia, or form of dwarfism.".  What they were most concerned about was Downs syndrome.  "could be lethal", "could need bedrest", "may need to deliver early".  They wanted us to do an amnio.  I was still in denial, very much so.  I dont even think I cried at first... I asked questions, asked risks and options for testing.  There was no need to test, they were wrong.  The next ultrasound would show that.  The baby was moving too much.  The ultrasound tech didnt know what she was talking about.  

I did agree to a non invasive blood test (maternal blood) to rule out Downs and other Chrom disorders.  We decided for peace of mind, it may be helpful.  When it came back normal then we could stop worrying about it.  --of course this came back inconclusive, "inaccurate due to non specific changes in the genome".  Well, that is our luck.  go figure.  I ate high protein meals and supplements.  I will grow this baby.  Next ultrasound has got to be better.  

We did not tell everyone.  I mentioned it to my mom of course.  She is my sounding board.  She was sure they were just trying to scare me.  This happens to people all the time and they have perfectly healthy babies!

We went on with the gender party as planned.... See, I didnt even mention.  ITS A GIRL!!!  Somehow the gender became a little less important after the crazy scan we had.  When you plan for that 20 wk anatomy scan, you plan to find out the gender.  Everyone asks what you would like and of course we respond "A healthy baby" never expecting anything less!  We went about the gender party.  It was a little awkward since only a few people knew what we were going through at the time.  We tried to hide any scared feelings we had from the ultrasound and trudge on as planned.  The gender party was cute.  It went well, and the kids enjoyed it.

The next ultrasound came.  I was in denial so badly that I told my husband that there was no need for him to take off work.  I'd take my mom just for fun, but they are going to tell us that everything looks good, that the baby grew since last time.  Everything is just fine!

Now, familiar with the experience, I laid there, got all gooped up and she started the scan.  1 minute into it the tears streamed down my face.  Looking up at the measurements on the corner of the screen, nothing seemed better... actually, they seemed worse.  A month had passed.  and the legs were only measuring 3 wks further than the last time.  They were already behind and I could see they were falling more behind.

My mom, being the optomist that she is reassured me that everything was fine.

My reaction to the Specialists consult this day was not so great.  I am ashamed of how I reacted.  Maybe it was because it was real now... maybe because my husband wasn't there and I could sob without having to worry about his emotions... IDK.  Now they were more concerned with a form of Skeletal dysplasia.  Termination was brought up and offered.  We were told to consider it at the first appointment, and it was mentioned again at this appointment.  Of course we would not, could not!  But I remember saying things I am not proud of.  "I can not have a dwarf, this is not happening to me".  I think I cursed quite a bit.  She was talking, and I was trying to pay attention, but all I could really do was think about how and the hell I was going to tell my husband.  How am I going to tell him that this is real?  I cant do it.  I cant tell him that our life is going to change forever.  I cant tell him that the baby I had begged him for is not going to be "normal", will have difficulties, will need specialists... Hell, the doctors did a pretty good job of telling us all the possible risks, it could be lethal, could be stillborn... How will I tell him this?

We did the amnio.  I told my husband.  He is my rock, and my gosh, if I didnt have him I could not go on.  I could not imagine anyone being any more wonderful.  I swear, he pushed his feelings aside for a week or two, so I could have my time.  If he cried, he didnt do it in front of me.  He made my life easier during that time and let me sulk.  and that is what I did... I cried.  Sobbed..... from my soul... A cry I have never felt before... a hard, take your breath away, gut wrenching cry.  I sat in the shower and bawled... no one could tell I was crying in there.  I worse sunglasses everywhere so no one could see my puffy eyes.  My husband would go to work and I would lay in bed and cry.  SOB.  A piece of my soul had died.  My baby would face challenges that I never dreamed of.... would she even  live?  This could be lethal.  What about Cassidy?  Can she handle this?  How will this effect her?  Will she have to be scared to have children?  A million questions... a million thoughts....

I cried for weeks... sobbed.   Google didnt help.  Every google attempt took me to a baby center board that was for moms expecting babies with not so good outcomes.  Hindsight, maybe that was not the best thing to do.  Thankfully, I found a few good sources (facebook support groups for parents of little people), and found a wonderful Video posted by a lovely lady and her husband about their darling boy...  (see below link)

I watched it 20 times, or more.  I cried.  happy tears this time.  I started talking to other moms with Achon babies.  Now, at this point, I just wanted my baby to be a healthy little baby with Achon.  I was healing.... I just needed to be told this was non lethal.  That Cassidy would have a little sister... that we would not have to experience the heartache of losing a child.  

We are still healing, but coming along nicely.... It is definitely a process.  We did take a trip up to the Childrens Hospital of Philadelphia where they were able to put our mind at ease that they were confident our darling Sophia has Achondroplasia  (** Edit 4/29/14, Achondroplasia was ruled out via the Skeletal dyplasia panel), and not some other lethal form of SD.  I wont lie... I still held out hope that they'd say that my MFM was full of it, and the baby was just fine, but still, I was happy with the outcome of that appointment.  Now we get to prepare for our little bundle! (and believe me, there is a learning curve)  We are still waiting on the results to confirm that we are dealing with Achondroplasia, (** Edit 4/29/14, Achondroplasia was ruled out via the Skeletal dyplasia panel)but we are happy to be done with the testing, and have a somewhat normal portion of the pregnancy.  We are excited to meet little Sophia and learn all the lessons she has to teach us!!

I know she will be awesome.  I know her big sister will rock.  I know everything will be ok now.... Early on, I kept saying to a friend "I will be ok" and she said to me "Carrie, everything IS OK", and ya know.... it is!  And, everything IS JUST FINE!  It is just a little different.  Who really wants to be the same as everyone else anyways??