Back to the Beginning

We got the complete autopsy results yesterday and it showed nothing more than the fact that Rachel died due to complications of her condition. Neither us or Dr. Koppell had heard from UCLA yet so he called them since it had been 8 weeks. Apparently their results were in the mail so he had them fax a copy to him. He called in the afternoon with their report. UCLA's Cedar Sinai has a preliminary diagnosis of Uniparental Disomy 14 (UPD 14). They want tissue samples sent to them to confirm the diagnosis. I thought tissues had already been sent when she passed, but apparently it was just her x-rays. Ironically, it seems that UPD 14 has pretty much the same presentation at Jeune's Syndrome, small rib cage, widened iliac bone and short limbs.   The only thing I haven't been able to see about UPD 14 is Kidney problems, which Rachel had at birth. She also didn't show a short stature which UPD 14 can show, she just had short limbs.  She also didn't have any cranial abnormalities in her bones nor did she have any hernias which is consistent with UPD 14.  I know in the end it doesn't matter what she had because it doesn't change the fact that she is not here anymore, but I am bothered by this possible diagnosis, I guess it just puts me back at square one with everything.

It took me a while to write this...

I can't rewrite this again, so I just copied and pasted it (I wrote it shortly after all events took place):
I gave birth to little Rachel Grace on 1/3/10 at 25 weeks gestation.  Rachel was diagnosed after birth with Jeune's Syndrome.  A rare genetic disorder (affects 1:130,000 live births a year) that affects the long bones, especially the rib cage.  Rachel was in the NICU and passed away on 1/5/10.  This is the hardest thing in life that I have ever had to endure.  I miss Rachel so much.  I wasn't ready to see her yet, and when I did I wasn't ready to let her go.  We moved to a new apartment 4 days before she was born.  The reason why we moved, so Rachel could have her own room.  I look at the empty room and just don't want to live here anymore.  Too bad we are stuck in a lease.  We chose this place specifically for her...the room, the washer/dryer in the unit (Difficult to find in NYC), the large roof top terrace for her to play on in the summer/warm days.  Now, you walk in, our place smells like a flower shop, a huge pile of cards sit next the flowers that all are riddled with "we're sorry for your loss" and random bible verses that are supposed to give you strength in times of trial. Those words in the Bible right now, make me angry and don't give me comfort.  My faith in God has been totally dumped upside down.  Rachel got her first piece of mail- her social security card.  I had no idea what to do with it.  It was totally weird to see her name printed on an envelope.  Rachel's memory box given to us by the NICU sits amongst the flowers.  All I want to do is stare at it all day.  I wake up every morning and wonder what am I supposed to do now?  How am I supposed to go on in life when I've spent the last 6 months preparing for our daughter to join us 3 months from now?  I dread facing the world- going back to work, answering questions from my students who loved Rachel just as much as Ping and I.  I also think,  What can I do to raise awareness regarding Jeune's Syndrome?  A few of my friends did donate in Rachel's name to the tiny foundation that exists.  My older sister is doing a book drive for the NICU that Rachel stayed at since when I was there I was not allowed to hold her (until she passed away in my arms) and they only had 3 children's books for me to read to her (which they had to spend a few hours hunting down).  A strong part of me wants to get pregnant again right away, but I know that part is just trying to fill the void.  I feel like I have lost the purpose in my life.  How do I go one from here?  How do I heal.  I'm not crying as much anymore, about every few days.  I blame myself for Rachel's death.  I keep thinking, if I had just been more in tune with my body, called the doctor about the UPPER back pain I had a few days before, Rachel would still be with us.  Everyone is telling me that it's not my fault.  My doctor even says it's not.  "That back pain I would have never pegged as labor, your cervix and uterus were just fine.  It wasn't you that brought her here early."  I still blame myself though.  I know that if she had made it through she would have had 30+ surgeries ahead of her in life, one every 4-6 months to expand her tiny rib cage.  And even then her potential of living until adulthood is grim.  On top of that, the bleeding in the brain, who knows how that would have affected her quality of life.  All I want is my baby back and that none of this ever happened.  Here is a picture of our sweet Rachel as she passed away in my arms.

We Love our Little Girl

Two appointments have no occurred since I last wrote on this blog.  I decided to wait to report, because I wanted to get more clarity and answers from my doctor to ensure an accurate report to you.  Let me start off by saying that Ping and I are very happy to be expecting a child in our lives.  We rejoice in the fact that God has provided us with a child to care for and raise.  We only hope and pray that we will do the best that we can for her.  With that said, we received some news at my level II ultrasound.  This ultrasound is done at 20 weeks.  It looks at the baby's organs, and other anatomy to ensure the baby is normal and healthy.  If some of you have read earlier, you will know that at 12 weeks, we chose to do the Neuchal Translucency screening to test for the possibility of Down's Syndrome and Trisomy 18.  Our results from that test came back with the result of "screen positive: increased risk of Down's Syndrome."  At that time, we chose not to do an amnio because our chance of having a kid with Down's (although increased) was only 5%.  At the level II ultrasound, it was revealed that our child had some physical markers for Down's.  Her long bones (limbs) measure only in the 2 percentile range for her gestational age.  Her Iliac Bone (hip) is widen, also consistent with Down's.  The notes of the ultrasound state: High risk Down Syndrome.  My doctor today talked with me more about these results.  He stated that in his experience, it is safe to say that our little girl does have Down Syndrome.  With her proportions (a chubby baby - her abdomen measurment is in the 77 percentile- and short limbs- in the 2 and 5 percentile) she pretty much has Down Syndrome.

Right now, I feel sad that we won't be having a perfectly healthy girl.  Overall, we know that God has made this baby just for Ping and I and we are delighted to love her and raise her no matter her condition.  Dr. Jeng has suggested seeing a Genetic Counselor to discuss more about Down Syndrome and how we can prepare for our little girl's arrival into this world.  Here is her newest picture taken in 3D.  A bonus too: a belly picture....(I don't like posting these normally)  I am currently 5 months today!