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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Long lost (not really though) video

Just a quick post of this video Jeff and I uncovered from our Leah-files. This was taken on the day of Leah's Christening. Aunt Penny's camera took some great photos and this great video.

Signs of Spring

It's no secret that this winter sucked for us.  So I'm glad to see the signs of spring around here.

Like:

Hannah lounging and grooming herself on her perch in the sun

Sammie tired on the couch after her first ever trip over to the pond for a walk

Random flowers growing in the mulch bed around some of our trees out front

And Jeff being able to change the oil in my car while wearing his oil-changing T-shirt

Avon earnings for DebRA

OK, so first of all let me announce (finally) the total we were able to raise during my online Avon event where I'm giving 100% of my earnings to DebRA as part of Jonah's auction. 

The total is .............................................................................

$197.46

Not too shabby huh?

Which leads me to my next announcement ...... so the other day I received an email from a very nice lady who had just visited my store.  Technically the event for Jonah was over but she wanted to know if there was any way I could tack on my earnings from her sale to the money that would be going to DebRA.  'Absolutely', I thought.  And, why not?  I know the word from the auction is still hot and so of course I have no problem doing that.  But then I thought, when would it stop?  Hmmmmm, how bout never?

What if I always gave 100% of my Avon earnings to DebRA?  That'd be pretty cool - and I'm pretty sure there's a little angel named Leah who would think it was pretty groovy too.

So yes, that's what I'll be doing.  My Online Avon Store will be dedicated solely to raising funds to donate to DebRA.  

And of course, if you just want to donate to DebRA - by all means please do so.  But if you're a current Avon customer, or you tried it out during the online event and liked the experience, please continue to shop my store and do a little bit to support DebRA.

Thank you!! 

Dolls for Leah

Months ago, my Mom ordered a Baby Be Blessed doll for Leah.  It was meant to be (possibly) a birthday present.  She ordered a Leah Rose doll, with blonde hair.  Well, it arrived here at its new home on Monday.  Isn't she just too precious?  Almost, but nowhere near as precious, as the original Leah.

For those who don't know, Baby Be Blessed dolls are handmade with lots of love and come with a scripture patch of the customers choosing.  My Mom chose this for Leah:

Also on Monday, another Leah doll made its way here to our doorstep.  It's kind of a funny story so, indulge me please.   Every once in awhile I seek out blogs which link to mine, in hopes of finding other stories like ours, or just cute blogs in general.  I Googled 'Little Lady Leah EB' and a link to a Crocheting forum came up.  'Huh?!' I thought ....... until I saw the post.  There is this amazingly awesome woman named Michelle in California, and she can crochet like the wind.  She makes these little angel dolls for parents who have lost their babies.  Somehow she found my blog and decided to bless us with an angel doll for Leah.  The doll was meant to be a surprise (i.e. I just open my mail one day and find this little creation).  But impatient me decided to message her on the forum to thank her and say how wonderful I think she is.  So then it turned into this 'It was a supposed to be a surprise but it's ok that it isn't because now we got to know each other and blah blah blah' thing.  She said that Leah is the oldest baby she's ever made an angel baby of, so it was a challenge to depict her - but boy did she do it.  Check it out:

Bear in mind that it is crocheted.  Isn't that incredible?  Her legs are posable .... she has fingers .... how do you crochet a tiny doll finger?!  Oh and I just put her on the candle to get a photo in good light ...... she won't live there and won't be near the candle if it's lit.  (FYI).  What kind of firefighters daughter would I be otherwise?! ; )

But look ...... Leahs ever-present binkie:

and the curls!! Her little wispy blonde hair and those adorable curls on the sides. 

And of course, her wings:

Michelle: Your hands have truly been blessed from above with the ability to do this, and your heart is so pure to give these priceless creations to the parents who treasure them.  I love my angel doll, thank you.

And of course, thank you to Nana for the Baby Be Blessed doll ........ I know Leah would love it.