New Member Introduction

[Guest guest]

Hello Group...

My name is Jana and I'm a 25 year old single mother to a 23 month old little

girl, Madeline.

Madeline has been plagued with health issues since birth; it began with a

ventricular septal defect (hole in the heart), has crossed the gammit of GI

issues, and I believe in total we've touched at least 12 areas of medical

specialty. We have kidney, liver and bladder issues, some neurological, and

we've left little to the imagination in between.

Until recently we were under the impression that we had a solid diagnosis of

Glutaric Acidemia Type 2, an inborn error of metabolism, also known as an FOD

(Fatty Oxidation Disorder). However, recently of few of her specialists

suggested the possibility of GA2 being mistaken for CF. So, here we are.

We've now had one sweat test completed, with a result positive for high salt,

and we're preparing for a second test for the same. (I'd very much like to know

if there are other parents out there in similar circumstance with diagnosis'

being swapped and confused. Thanks.)

This group was recommended to me by a very good friend who is also a member. For

the past while we've been going through some almost identical experiences with

our children; initially we had the same diagnosis (GA2) and we've both now been

steered toward testing for CF.

My good friend suggested that I join this group, as she was very impressed with

the support, kindness and amazing amounts of invaluable information.

I'm very much looking forward to observing and participating in this group. As a

new-to-this mom, any guidance anyone has for me would be so fantastic.

So, thank you in advance for your guidance and support, and also for allowing me

to be a member of your community.

Truly,

Jana

Madeline - 23 months