Monday, January 17, 2011

roller coaster ride- a diagnosis

i have decided that this is a roller coaster ride. sometimes the ups and downs take awhile to build up and sometimes they happen in a matter of minutes. today was minutes. and may i just note- i have never ever liked roller coasters and do NOT ride them.

i went in for my weekly- check my weight/urine and BP appt, to get pulled in to the back office to talk with my doctor on the phone (who was at another location that day). she has heard back from the Cedars-Sinai Skeletal Dysplasia people-- who specialize in diagnosing types of dwarfism while in utero. they looked at our 20 week ultrasound and then when they talked with Dr Adelberg- she updated them on our most recent growth ultrasound.

unfortunately the diagnosis is not great. not one bit. they are diagnosing her with- Achondrogenesis Type 2. it is a fatal diagnosis-- the babies who don't die in pregnancy are born and only live a few hours to a few days. (I DO NOT- recommend googling or looking this diagnosis up- there are some pretty scary pics that show up) my heart hit the ground. after last weeks ultrasound- i think both aaron and i were feeling so much more optimistic. i even went out and bought a few more baby items... registered for a stroller and car seat. then CRASH. i get this call. the worst part is that i was alone at the visit- as these are normally not important appt's for aaron to come to, so i was a mess without my husband- my rock. the fatal part is still what we knew about- the chest size. the rest of her talking was about how we now really need to make more plans for this diagnosis and plan for her death- exactly what we do and don't want done. and then them wanting to make sure that she doesn't change her position- as they really do not want me to have to go through a c-section and will manually move her if she moves breach.

needless to say-- i was in tears through the rest of my office visit and leaving the office. i immediately called aaron to let him know, which was a hard call to make. making my tears worse is that i was walking to the ultrasound where i was going to have to see the dr that i saw previously and did NOT like at all.

going into that appt- i had guestimated my fluid to be around 24cm... and i was darn close- 23.7. ha! take that ultrasound! that dr came in and luckily he had all ready talked with my doctor so he knew what was going on. he came in and was actually very nice and caring. he turned out to be the more optimistic one. he states that he knows that this lady has given us this diagnosis (and that she specializes in this)--- but due to her last chest measurement, that he doesn't want us to give up hope on Sophia. that chest size is not bad and there is room for quite a bit of lung. he encouraged me/us to really give her a chance to see what she can do with that chest measurement and see how well her lungs will work. he recommending letting the neonatologist do their thing and see what it does. he said he isn't so sure it is going to be fatal. i was shocked and not prepared for this kind of response. just as the roller coaster was dropping down and we were holding on for dear life, scared out of our wits, then it levels out and we are right back where we started. we are back not knowing what to expect and feeling like we are back not knowing what ride we are on.

i walked out of the hospital feeling sick to my stomach after such a quick drop and crazy emotions in such a short time. all i know is- that my fluid isn't going to last very much longer. and in an attempt to have the best experience possible in this situation, we are going to plan to induce early- next monday night. so we can get our family out here and i can have my doctor. if we don't, she will only have a few more days worth of staying in, but it will add so much more stress to our lives and our families lives... which we do NOT need more of. of course- this means i cannot go in to labor this week.

this week my goals--- NOT go in to labor, rest rest rest, finish up what i need to get done at work, get a manicure, and meet with String of Pearls lady. (this is a great organization that helps you prepare for the death of a child after birth and provides us with some support- thanks again Gayle for your recommendations!)

today we are both just trying to get by. cry a little. rest a little. pray a lot. and just be with each other. we are both so ready to be done with this ride... no matter how the ride ends i am ready for this part to be over.

here goes the end.... t.


  1. Please go to the website:
    They seem to have had a very similar experience and their baby lived. Good Luck!

  2. Oh Tristen and A.J., you don't know me, but I know Dianne (used to work with her at ATHENA) and I just saw this on Facebook. As I read your words my heart is aching for you both. Your description of the roller coaster is spot-on. The way you wrote I felt like I, too, was on the ride with you. I can only imagine the range of emotions you must be feeling right now. There are no magic words. Let yourself feel everything you need to feel and don't hold it in or think you need to apologize, or "be strong" or suck it up. This is just incredibly hard any way you look at it. I hope it helps in some small way to know that you are being lifted up in prayer. I don't know exactly how God will work in this situation, but I do know that He will work and probably in unexpected ways. Draw near to Him and pour it all out to Him. Psalm 28:7 has been a comfort to me in recent days. "The Lord is my strength and my shield, my heart trusts in Him and I am helped." I am praying you will sense His presence in a mighty way. Amy Billings

  3. I pray to Jesus the healer to wrap his loving arms around you and Sophia and bring all through with Grand results as only he can perform. Through the loving arms of Jesus I pray for you.

  4. Tristen, If anyone deserves a miracle, you do. You have went through so much these past months. I'm praying for a miracle for you. Anything is possible if you trust in God as I know you do. Take care of yourself and baby Sophia. My prayers are with you.
    Debbie Bavery

  5. I'm a little person (dwarf), hang in there as God is a great God and He will see you thru it. ~grady

  6. Our God can do amazing things! Praying for you and your family. We are from in Southern Colorado and have had 2 preemies, and have adopted 2 little ones with special needs. One has a chromosme deletion that causes small stature (very small stature) the other has Cerebral Palsy. I am a mother of 5 and a member of a support network for moms raising kids with special needs, if you would like to talk I am happy to pray with you, pray for you, or come along side you during your journey! There are a lot of resources for raising kids with disabilites, and I am happy to talk to answer any question to the best I can. Praying God will is done in your babies life. I don't know if you have ever seen but when we found out our newest baby was terminal I read her blog like it was sent strait from heaven to my heart. Blessings Jamie

  7. Dear AJ and Tristen,
    Candy and I are praying through Psalm 121 for you and Sophia.
    Loving you in Jesus,
    Jeff and Candy

  8. Hi, I just found your blog. I have a five month old with a form of dwarfism called Diastrophic Dysplasia. When I was 20 weeks pregnant, the doctors were reluctant to diagnose but they told me that it was most likely lethal. Thankfully it wasn't though! I have met so many people who have babies with a skeletal dysplasia who were given a lethal diagnosis during pregnancy and the doctors were wrong. I know it's not the case all the time - but don't lose hope! My heart hurts with you because it wasn't long ago that I was there too. You can read my blog to read more about my journey with our little girl. And if you want to email me for anything please do - nicolejoy81(at)

    All the best!!

  9. For by the stripes of Jesus Sophie is healed. amen

  10. Hi! Your story hits close to home. I'm saying lots of prayers for you! Please check out my blog We have a whole family out there for support if you need it! Hugs!