Hi Lilly,
My son, Joseph is also 2, his birthday was last week infact. One of
his doctors suspected APECED back in May and we had a buccal test
done. Results came back in 6 weeks. The buccal test is a genetic
test that doesn't require blood, it is is simply taking a soft brush
and gently wiping the inside of the cheek to get some cells. It was
done in the doctors office for Jospeh yet my husband and I also did
the test on ourselves to confirm we were carriers. Genedx.com is the
compnay that processes the tests. You can look them up on the
computer and then call them. They sent my husband and I the buccal
kits directly to our home. My son has no eye problems but he gets
oral thrush frequently and has nail dystrophy. For us knowing what he
has has helped us get the knowledge we need to best care for him. I
know this is all very frightening and so much to take in, but since I
have linked up to this yahoo group I feel I can reach out to others.
Everyone on this site is extremely compassionate and helpful. I wish
you and your family the best and please keep us posted.
Susan



-- In apeced@yahoogroups.com, Vicki Robson <vrobson1@...> wrote:
>
> Hi Lily,
>  
> Welcome to the APCED site. The pictures of Levi are just precious.
Seeing them reminds me of my son when he was young. He has the eye
condition associated with APCED. He began having very severe
photophobia when he was 4 yrs old and wore sunglasses inside most of
the time. His eyes were very red and painful and we saw many doctors
but no one could definitely diagnose him. At age 18 he was diagnosed
with APCED and the eye condition was then considered a part of this
diagnosis. He is now 25 and his eyes aren't as photophobic as they
used to be, but he does have corneal scarring and diminished vision.
He uses steriod drops on a regular basis as well as cyclosporine
drops. We see his cornea specalist frequently and are hoping soon to
have some of the corneal scars removed to help his vision.
>  
> I know it is so difficult not having a diagnosis but hopefully you
will know something soon. As Linda mentioned there is a  genetic
blood test to  diagnose APCED.
>  
> Please keep us posted & Take care,
> Vicki 
>
> --- On Sat, 11/1/08, Lily Jean <slwahl1@...> wrote:
>
> From: Lily Jean <slwahl1@...>
> Subject: [apeced] New Here
> To: apeced@yahoogroups.com
> Date: Saturday, November 1, 2008, 1:41 PM
>
>
>
>
>
>
> My name is Lily and I have a 2 year old son who is undiagnosed at
this
> time. However, yesterday the doctor told me about APECED and how
this
> could be a possibility for my son , Levi. Levi's story is long, but
at
> this point, his symptoms are failure to thrive, extrememe
photophobia,
> corneal cloudiness and scarring,oral and espophageal keratosis,
> hearing loss. We are going to start him on growth hormone therapy.
The
> hardest thing for me is to not have a diagnosis and also his
> photophobia. I can never take Levi outside and his eyes cause him a
> great deal of pain. Is there an actual genetic test that could be
done
> for APECED? Does anyone have similar eye difficulties and know what
> could help?
>
> Thanks, Lily
> Lily Wahl
> email: nineofus@ymail. com
> website: www.caringbridge. org/visit/ leviwahl
>