Hi Julia,
i am relatively new to the site. Joseph, now 22 months old was just
diagnosed with his symptoms only being chronic thrush, and nail
dystrophy, and GI problems. I am thankful we saw a docotr that
thought of running a genetic test just so we know now what to
expect. He doesn;t have parathyroidism or Addison's yet but at
least we know. There is no harm in getting a test done. it is easy
now to do, you can do it by simply a cheek swab. If you look up
GeneDx.com on line you can order a buccal kit which can be sent
directly to you. You can swab his cheek and send it in. It costs
$350 but insurance can pay for it if you get a doctor prescription.
Joseph got the cheek swab done and it took 6 weeks for the
results. My husband and I just actually got our cheek swabs done
and sent them in this week to confirm we are carriers too. We had
the kits sent directly to home and did the swab ourselves, it is
easy and will put your mind at ease just to know. We are also
expecting a baby girl in December and we will have her swabed
shortly after she is born. Gas was a problem for Joseph and soft
stools but we thought that was common in babies. he had not
problems breathing so I can't advise you there. Also i have heard
that thrush in healthy babies is common yet if they have chronic
thrush after 6 months that is when there may be mmunocompromised in
some way. I hope this helps. I wish you family and the baby good
health, and hope he is ok. regards, Susan






--- In apeced@yahoogroups.com, "juliap99" <juliap99@...> wrote:
>
> Hi all,
>
> I am writing due to some concern for my nephew (my brother's
son).
> He is 2.5 months old and has had thrush a few times already. It
has
> recently cleared up with diflucan. My mom and I are watching him
> closely but haven't mentioned anything to his mom (my sister-in-
law)
> yet. My nephew has horrible gas ALL the time - I'm wondering if
> those of you dealing with chronic diarhhea in your little ones had
> this experience early on with gas before the chronic diarrhea
> started. How/when did it all start? Also, did anyone have
trouble
> with breathing? My mother remembers my doctor asking at my first
> visit if I ever had problems when I was a baby with breathing
while I
> slept. My nephew will stop breathing for a few seconds and then
take
> a big set of three breaths in. We could be looking way more into
the
> little details than we have to, but I just want to keep my eyes
open
> since he has had thrush a few times already and he's only 2.5
months
> old. I have APS 1, but my brother doesn't. He could be a carrier
> though, don't know. My sister - in - law would have to carry the
> mutation too and they both would have to give it to their son for
him
> to get it - 25% chance. So it would be against the odds for him
to
> get it.
> Has anyone had genetic testing done early on to diagnose APS type
1
> (APECED) before even getting hypoparathyroidism or Addison's
Disease?
>
> Thanks for your input.
>
> Julia
>