DRUM ROLL PLEASE!!!!! Okay, since I don't have a drum roll audio file, how about some fireworks then? ;)
The Alpha-1 Foundation will pursue a pilot study to assess the feasibility of screening newborns for Alpha-1 Antitrypsin Deficiency. WOOHOO! I'm just so excited to have been part of the process of coming to this multi-disciplinary decision in the workshop. It was an honor to present a parent's perspective, and a privilege to have contributed in the workshop overall.
I've got a great big smile on my face as I've wanted this since Grace was diagnosed in 2002. WOOHOO! It is a banner day.
The results of the workshop will be put together in an official publication and available sometime in October for those of you interested in the results. See the Alpha-1 Foundation website for further information.
4 comments:
Congrats Jen! I know how important this is to you!! You are such an example a proactive mother!!! Big hugs!
Hi,
My name is Tammy and I blog at www.prayingforparker.com as well as at www.5minutesforspecialneeds.com where I am the managing editor.
I'd love to have you do a bit of guest posting for us on live with your girls and help raise awareness of live in the Alpha 1 community.
Well done, Jen! You are such an amazing advocate for the Alpha community -- praying that advances like this one keep coming.
Jen:
I just found your blog by doing a Yahoo search for "alpha-1 ..." and "newborn screening." I am so happy to find you! My daughter was diagnosed at age 3.5 with alpha-1 (SZ) after developing an enlarged, fatty liver that was actually caught a year earlier (we just didn't know the cause for a year). Part of the delay in diagnosis is that she (and a brother) also have cystic fibrosis and the pulmonary docs assumed her liver issues were due to that. I took her to a gastroenterologist on a whim who made the additional diagnosis. Her liver is totally fine now after being on Ursodiol.
I have never been able to find another mom with an alpha child. Everyone keeps telling me it never shows up until adulthood, but obviously that's not true!
Can you tell me how they would screen for alpha in newborns? Would they just do a genetic test for the types (S, Z, etc)?
You can contact me at kimberly@guthco.com
Kim
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