Rare Disease Day

First, quick update on Julia:

Today's scan was good, as in there was no bad news. Julia's condition remains stable and we are happy to have been able to wait longer between transfusions than expected. We will take a close look at her heart tomorrow with a specialized test called an echocardiogram.  Tomorrow's ECHO should give us an idea of the severity of her anemia and how it's affecting her heart. It will also check her heart for any defects. Fingers crossed.

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Today is Rare Disease Day.

And get this...
I scored a free hot cocoa and cookie because of it. They were delicious and Julia kicked me perhaps in delight, so I think she liked them too. But forget the cookie. What's incredible to me, is that the company giving them away (a cookie truck) was parked only just steps away from my building. And I just so happened to have walked by at the right time. And they were doing this good thing in support of rare diseases. And both my babies have a rare disease. Crazy, right?

It was one of those times, you know, that you get the feeling the universe is trying to tell you something, that the Big Guy upstairs is giving you a nudge, that your angels are making sure you know they're there - and they get it. Sometimes I feel very alone and frustrated that my babies carry this rare unfortunate disease. Then something like this happens and I realize, once again, I'm not really alone.

It's nice to see that there are people advocating for increased research for rare disease and coming together to support this cause. Even the pope made a special blessing today for those affected by rare disease. I hope this post spreads the word further.

I feel all the love you've sent my way, thank you.
Liz

Julia's belly bump and my free hot cocoa for Rare Disease Day

Giving back

Thank you for all the prayers and support.  Elizabeth and Tom really appreciate all the love you have shown them over the past month.  Many people tell me they feel helpless and want to help.
After the first transfusion Lizzie really started to feel stronger kicks from Julia.  She told me she wanted to find the donor of the blood and hug them.  Donating blood would mean a great deal to both Liz and Tom right now.  Liz will be going for another interuterine transfusion this week.  These transfusions are providing the only chance our Julia has.  Below is a link to help you find the closest blood drive.

Red Cross - Give Blood

Noah also is raising money for jump rope for hearts again in honor of William.  Please consider donating.

Noah's Jump Rope For Heart Page

Ultrasound photo of William

Glimmer of Hope

Liz wrote an amazing post about "hope" back in September.  It is truly amazing how powerful hope can be.

"Hope is the only thing stronger than fear."

Hope helps us through our darkest moments and it has been a constant theme through both of Lizzie's pregnancies.  Lately we have been hoping for answers and last week we FINALLY got some.  A hematologist in Boston has been reviewing William's information and he believes he has some insight into the type of anemia shared by both William and Julia.  It appears to be a very rare recessive form of fetal anemia.  This physician has only seen a handful of cases in his career.  The doctors believe that fetal interuterine transfusions may help Julia's anemia.  Each transfusion comes with risks.  However, we have some hope which is more than we had a few weeks ago.

Lizzie had the first IUT (interuterine transfusion) Monday and it well very well.  Julia was pretty anemic and she got some fresh blood which she desperately needed.  Yesterday we found out the MCA is improving.  This is wonderful news, however, there is a very long road ahead.

With this successful transfusion behind them, Lizzie and Julia will be undergoing more transfusions.

This "glimmer of hope" has dissipated some of darkness of the emotional storm Liz and Tom have been enduring these last few weeks.  This alone is reason to be grateful, have faith, and continue to pray.
Keep the prayers coming and thank you for all your love and support.



Julia Joy 20 weeks.  She is kicking Lizzie hard and getting stronger from her transfusion. :-)

"Hope is putting faith to work when doubting would be easier." Thomas S. Monson

Julia Joy

Julia Joy is 19 weeks old.  She is kicking Lizzie daily and is about the size of a heirloom tomato.  I can't really begin to explain how much this little girl is loved already.

Liz and Tom have just received news that Julia appears to have the same condition as William.   This rare form of fetal anemia is still leaving the finest doctors at the Brigham stumped.  Liz had a scan Monday showing an enlarged heart with fluid developing around it.  This appears to be a more aggressive form than William had since she is showing symptoms earlier in gestation.

The prognosis is poor, however, Lizzie and Tom won't stop fighting for their daughter until they leave every stone unturned.  Nothing is without major risks at this point so now they are weighing all the risks of any procedure.

This news clearly is devastating to our family.  It's seems almost impossibly unfair for Liz and Tom to have to go through this again.  We appreciate all the prayers and support you have shown our family.  Please continue to pray and leave comments on the blog.

Liz and Tom are devoting all their attention and time in an effort to determine the next best step. This is an extremely stressful and difficult time and although they love you all, the best way to show your support is to leave messages for them on the blog.  They are just unable to reply to texts and calls right now.

Below is a picture of Miss Julia Joy