Wednesday, March 10, 2010

Leah at 1 month & Genetics

One year ago today, I took this picture of Leah:

I love this picture.  Even though this isn't what she looked like at the time.  At no point other than the exact second I took this picture did she look like this.

At one month old she really looked more like this:

And she was doing a lot of this:

(That's yawning - not crying.  She was the perfect baby and rarely cried.)

She was so beautiful.  And at just one month old we had no idea how bad everything would get.  Her skin was in pretty good shape.  Her face, as you can see, was perfect.  Almost all of her finger nails looked normal.  She ate well, breathed well - and I think, I hope, she wasn't in much pain.  I would never have thought that over the next year we'd watch her skin worsen, a trach get put in, corneal abrasions, eating problems, pain, more pain and even more pain.  And I definitely never would've thought that one year after taking that picture she'd be gone; 2 months, 1 week and 3 days gone. 

There is no segway out of that so I'll just move on....................

On Monday we had our genetics consultation at Children's Hospital in DC.  Overall it went great.  We didn't have to talk about EB, or even Leah really.  Our counselor had done her research and knew the answers to all our questions.  But best of all - we learned that because of the blood drawn from Leah back in August, we know what genetic mutation(s) we carry, and therefore, what we would look for when we choose to have another baby. 

If I had just gotten those darn blood test results earlier I would've felt much better.  What happened is that they were supposed to be mailed to us and I never got them.  I emailed the dermatologist asking for them and she said she'd get them out to me.  Still nothing.  Then when we were in the hospital at the end of December, I asked Leah's dermatologist for them again.  The day after I spoke to her was the day Leah passed, so then it was the last thing on my mind.   But when I was told about the results, we learned that the test didn't show whether Leah's JEB was Herlitz or Non-Herlitz (though, lets face it - she had Herlitz).  So from that I was assuming that the test had been a failure on the 'learning things' front.

But, as I said, the test did indeed show our 'defect' as DNA givers to our offspring. 

Leah was heterozygous positive for R42X and R635X mutations in the LAMB3 gene.

I passed the info along to Sara, my EB-knowledge guru and she looked it up in her mutations book.  Apparently we carry a common mutation.  Sara's book showed that: in a study they did in the mid 90's; 47 cases were LAMB3 mutations, 45% of those contained the R635X mutations and 7% contained the R42X mutation, and 3 with a combination of those two mutations.

I'll do a second post on where we go from there - and what this info means for our future.  But, as you can imagine it's not simple and so I'm sure I'll have a lot to write about it. 

Also, I may try to revamp my blog in the next day or so.  I've been wanting to change it from a 2 column to a 3 column blog for awhile so if I can get my blog-learnin' on and do it - I'll do it.  But ..... if you should happen upon my blog and find a big blank space .... that'll be why. 

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Linda said...

Looking at those pictures sure did bring back so many memories. She really was such a good baby. She was soooo beautiful.
Love you guys and praying that God continues to lead the way. Love Mom XOXOXOX

rjg849 said...

Leah was and IS a beautiful baby. We all miss her so incredibly much but we know that she is running and singing and laughing in the gardens of paradise. I pray that you and Jeff will get good news soon, in faith we will find ways, Love you guys. Dad

Jessica said...

Gorgeous! Such a precious baby girl.

Anonymous said...

Your daughter looks so sweet in all of her photos. I'm so sorry for your loss.

My husband and I are not able to have future biological children for other reasons, but I know how it can weigh on you. I'm sorry that you have to go through this. I wish you the Lord's peace as you decide what to do.

Michele said...

I cant say enough how beautiful Leah was and remains. She will always be beautiful in our thoughts and hearts. I look forward to meeting her in heaven; I know she is playing with our sweet babies there...

Michelle Bogart said...

Thank you so much for sharing her with us, she really was a darling and I think the yawn picture is adorable. lol

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