Sara - Re: Katy - Re: CPT question

[Guest guest]

Sara,

Alpha-1 antitrypsin deficiency (A1AD) is a genetic disease as common as CF,

though less well known. Alpha-1 antitrypsin is a protein produced by the liver

that provides protection to the lungs against the effects of neutrophils. In a

person with A1AD little or no protein is produced, and the protein that is

produced is misshapen. This misshapen protein gets trapped in the liver and

causes liver problems. A1AD is the most common cause of liver disease in

children and of emphysema in adults. Nice, huh?

Leila was diagnosed after prolonged jaundice and enlarged liver at 2 months

of age. Suspecting it might be CF related, doctors drew blood and did a liver

u/s. They found low levels of alpha-1 antitrypsin as part of the work-up, and

from there she was phenotyped as ZZ (the most severe form). She now takes

ursodiol to thin her bile and has been doing very well.

Having meconium ileus has nothing to do with A1AD. It is certainly possible

for Zach to have this and not show any signs, but it would be pretty rare. We

are told that CF and A1AD are not linked in any way. We are also told we are

one of the few with both together. There are some others I have communicated

with (one on this board), but not many. Even if Zach had this, there is nothing

specific they do now unless he's having liver issues. The treatment for CF and

A1AD is very similar. So rest easy, Sara, I'm not sure it's worth worrying

about.

Keeley

mom to Leila, 11m. wcf and ZZ alpha, and Hadley, nocf & noA1AD (yes, we have

two kids at the opposite end of the genetic spectrum!)

Katy - Re: CPT question

Keely,

could you explain alpha-1 antitrypsin deficiency and how leila was

diagnosed with it? Zach was born with a meconium ileus also, but

was not diagnosed with CF until he was 13 months old. Our doctors

do not seem to be too aggressive with rare illnesses. If Zach has

symptoms of alpha-1 antitrypsin deficiency I will bring it to their

attention.

Thanks!

Sara - Mommy to Zach 16 months

> Katy,

>

> Leila was diagnosed at birth with meconium ileus, then at 2 months

of

> age she was also diagnosed with alpha-1 antitrypsin deficiency.

She

> stayed in the NICU for 15 days before we could bring her home.