Sunday, 31 August 2008

The Hard News

I know our posts have been slowing down a bit lately. My words have dried up. When my writing focused on all the amazing things that happened leading up to Leah’s birth the words poured from out of my heart. They flowed as freely as my tears did as I sat at the computer and wrote and cried and remembered. Thinking about my pregnancy and Leah’s birth and the miracles God worked during that time is easy. The joy those memories bring dulls the pain of loss.

When it comes to writing about anything from June 25th on, it gets much harder. The only good things that have happened since then have been the amazing support and care we have received from our friends and family.

I have been struggling to write this post for weeks. I have tried recounting the events of June 25th, to paint a picture of the grief, shock, and devastation of that day, but it is entirely too painful.

That day, the day after Leah was born, our genetic counselor came to meet with us before we checked out of the hospital. I hoped it was just routine, but seeing her at the door made me apprehensive. She had told us at our last meeting that there was no reason, based on the ultrasound, to suspect a genetic cause. The majority of cases of lethal skeletal dysplasia result from dominant mutations that randomly occur at conception, and Leah’s ultrasounds didn’t display any of the characteristics common to recessive (i.e., inherited) genetic dysplasias.

However, the examination Leah received post-mortem indicated that she probably did have an inherited disorder, called short-rib polydactyly. The gene for this dysplasia has not been located, so there is therefore no test to verify the diagnosis. However, families that experience this with one child who chose to have more children frequently deal with it again. It also occurs mostly in marriages where the spouses have a relative in common. Thus they have determined there is a genetic link.

This condition is so rare, that the hospital did not feel comfortable giving us a final diagnosis even after completion of the full autopsy. Instead they have sent everything to the International Skeletal Dysplasia Registry at Cedars-Sinai Medical Center in Los Angeles for expert confirmation. They did this because they feel uncomfortable giving us such a serious diagnosis when they have so little experience with it, not because they believe the diagnosis will change.

4 comments:

Andrea said...

You don't know me. I stumbled across your blog while searching for other moms who've had children with a lethal skeletal dysplasia.
My son was born July 8th. He had Achondrogenesis type II. We were able to confirm it with genetic testing. We hadn't wanted to do an amnio because of the risk of preterm labor, but decided at the last minute when I was in labor to have them take the fluid for testing.
I'm so sorry the news from your genetic counselor wasn't what you had expected. Hopefully you'll get more difinitive answers from Cedar Sinai.
If you'd like to email me, please feel free. amowen @ comcast.net

Haley Ballast said...

Oh Amy... I am so sorry to hear this news. Please know that we are praying for you and Jeff as you walk through this. We hurt with you guys. Thank you for sharing your burden, allowing us to pray.

Tiffany said...

Amy and Jeff, I've started to write this post a dozen times. The impulse is to try to find words of comfort, but the truth is that they all seem hollow. This news simply sucks. All I can offer is to say that you are in our thoughts and prayers and if there's anything that we can do, we are here.

Sammy said...

Hello Amy and Jeff

I am moved to tears in the UK by your story. What a beautifully written story about leah's time with you. I felt very priveledged to be able to read it.
I am writing from the UK as we ourselves lost our little baby Spike in Feb of this year to SPRS (Beemer Langer type 4) and it was the most awful heart wrenching thing i have ever experienced.

I wanted you to know you are not alone and we are thinking of you. I am so sorry you have been through this, and you also have the implications of future pregnancies ahead of you. We also suffer from the 1 in 4 statistic of this happening again which completely knocked us. It is hard enough to deal with the death of your little one but to anticipate it happening again is so so hard. However you sound very strong and your families sound a wonderful source of support.

All i can say is, please look after each other and take your time to heal. If you need any support then please do contact me. Although i am in the UK, i completely understand your pain and the journey you are on.

Sending you all our love and happy memories to you both.
Sammy Duder
PS: We are over the moon to tell you we are now 24 weeks pregnant with a healthy little baby girl.....What a journey!!!