Hi Lily and Welcome,
I went to your web site and Levi is adorable! How awful it is not to
have a confirmed diagnosis and a definite plan of action. APECED can
be
diagnosed with a genetic blood test. If the doctor's are considering
this possibility I recommend you do this as soon as possible. Then
you
can also call Dr. Karen Winer at the NIH who treats many children
with
APECED. She will set you on the right path.
Many parents on this board have children with light sensitivities and
eye problems so they are better able to ask questions and help with
this. My daughter has APECED but she has a different set of issues.
It takes a lot of strength to parent a child with such debilitating
medical problems and I can tell from your web site you and your
husband
are very courageous.
Linda



--- In apeced@yahoogroups.com, "Lily Jean" <slwahl1@...> wrote:
>
> 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@...
> website: www.caringbridge.org/visit/leviwahl
>