I am so glad you found this group.  My daughter said she prefers
emails to a message board so anyone should feel free to email her at
littlered611@...
Yes, her journey does sound a lot like yours, Julia. We are from
Westchester County, just outside of NYC. Tara's ancestry is very
mixed- English, German and maybe some Scandinavian.
I am so glad you finished school.  Tara was never tired until her
late 20's when she started having episodes of very severe
malabsorption that landed her in the hospital for months on end
twice- once at age 26 and again at age 32.  Since her last episode
she was diagnosed with Type 1 Diabetes and now she is tired and has
difficulty working full time.
She also finished college in four years and used to hold down two
jobs at once and went out every night.  That is why this is so
difficult to believe that she has so little energy anymore.
Do you do anything special when your digestive system acts up?  It
is the malabsorption that has Tara so weak and unable to get on with
things.  She had two rounds of IVIG and the doctor is considering a
third. We all live in fear the diarrhea will return and again not
stop for months.
Julia,I know you will make the right decision about working full or
part time. Insurance coverage has been a big motivator because part
time jobs don't usually offer any insurance.  I don't think working
a lot was bad for Tara or adversly affected her.  The illness just
runs its course no matter what she does and there never seems to be
any way to prevent things form acting up.

I am so encouaraged by the responses on this board. Everyone I have
encountered who is affected by APS 1, whether parent or child, has
such warmth and dignity and a special compassion and understanding
that I know someday we will overcome this disease.
Best wishes,
Linda

Hi everyone,
i have been told that my young son will develope addisons before
Adolescence and also diabetes around this time, he is currantly seven
years old and we are sitting wondering if this will differently
happen and what signs can we look for and if their is Prevention. and
opinions i would be very greatful.
Take care......... Kathy

--- In apeced@yahoogroups.com, Julia Peterson <juliap99@...> wrote:
> Hi Julia,

  Thanks, I will give my son your message. Congratulations on
finishing college. I hope things go well for you.

My son sees an endo here at Baylor College of Medicine. She seems to
know a fair amount about his condition but sometimes I wonder if he
is on the correct dosage of prednsione and other meds. What meds to
you take and what dosage?
Ryan's cornea specialist believes his cataract is due to steroid
drops he has used on and off for 19 yrs. I assume you had your
cataracts removed when you were young? Is that correct? How are your
eyes now? Sorry for all of the questions. I haven't come across very
many APS patients that have had cataracts or eye conditions.
Thanks for your help,
Take care, Vicki

PS. Sorry for the duplicate message earlier, my computer is not co-
operating today.





> Hi Vikki,
>
>   Thanks for the information and encouragement.  Please send my
encouragement to your son. I know how hard college can be when your
health is not cooperating.  I'm glad to be moving on the next phase
of life but will never forget the struggles and tears, but also the
sense of accomplishment at the end.
>
>   I am from Columbus Ohio.  I see an outstanding endocrinologist at
The Ohio State University Medical Center.  She picked up my care when
I switched from my peds endo.  She is a young teaching doctor so she
is more on top of things than my last endo.
>
>   Do the doctors know why your son has cataracts?  I'm curious
becuase I developed cataracts at age 5 due to calcium deficiency from
undiagnosed HPTH.  At least the promising thing is that cataract
surgery has come a long way and doctors can now remove the cataract
and lens if needed and also do an artificial lens implant.
>
>   Keep in touch as well.  Let me know if I can offer any information
>
>   Julia
>
>
> ---------------------------------
>  Check out the New Yahoo! Mail - Fire up a more powerful email and
get things done faster.
>

--- In apeced@yahoogroups.com, "juliap99" <juliap99@...> wrote:
> Hi Julia,

Welcome to the group!

My 24 yr old son has APS and we live in Houston. His started with
inflamation of the cornea at age 4, then chronic yeast infection of
nails and mucuous membranes. At age 15, he was diagnosed with
autoimmune hepatitis, HPTH, then at age 20, addisons and underactive
thyroid. His vision is impaired and he has developed a cataract in
one eye. His eyes give him the most trouble of all. Ryan has attended
University of Houston for the last 4 years, but now is taking online
classes. He has missed several semesters because of health issues. If
it wasn't for the eye condition our son would function well also.
As far as ancestry goes, I believe we are from English and German
descent so I don't know how our son developed APS. There is no
history of autoimmune conditions in our family that we know of.
Please keep in touch,
Thanks, Vicki

> HI all,
>
> I'm new to the group - a veteran of APS I though as some others
I've
> seen on here.  I am 26 and have had this for 23-24 years.  I was
> diagnosed late with hypoparathyroidism - i had seizures at age 3
but
> the doctors thought it was epilepsy.  It wasn't until my
> opthamologist noticed my ugly nails and cataracts in both eyes that
> he alerted the endocrinologist of possible hypocalcemia and
> hypoparathyroidism.  I also have Addison's Disease, Pernicious
> anemia, diabetes insipidus (not to be confused with diabetes type 1
> or 2), enamel hypoplasia(lack of enamel on most teeth) and chronic
> yeast infections and fungal infections.  I function well - with
> Addison's being the most difficult to deal with - I work now -
> looking to go full-time soon (just graduated so I'm in the job
> hunt).
>
> I'm curious though, I had human growth hormone deficiency as a
child
> and that is not typical with APECED.  Anyone else have pituitary
> gland involvement or their children have it?
>
> Also, from my research it seems as APECED is autosomal recessive,
> APS I patients have ancestry to Finland, Iranian Jews, or
> Sardinians, so how I am in the US with this I can only gather I
> probably am from Scandinavia way back some time - I'm only aware of
> Irish descent on my mother's side.  Anyway, is anyway in this group
> from the US?  It seems that there is more research and knowledge
> about this in Europe, unfortunately for me.  I'm just curious.
>
> Glad to join this group.
>
> Julia
>

--- In apeced@yahoogroups.com, "juliap99" <juliap99@...> wrote:
> Hi Julia,

Welcome to the group!

My 24 yr old son has APS and we live in Houston. His started with
inflamation of the corneas at age 4, then chronic yeast infection of
nails and mucuous membranes. At age 15, he was diagnosed with
autoimmune hepatitis, HPTH, then at age 20, addisons and underactive
thyroid. His vision is impaired and he has developed a cataract in
one eye. His eyes give him the most trouble of all. Ryan has attended
University of Houston for the last 4 years, but now is taking online
classes. He has missed several semesters because of health issues. If
it wasn't for the eye condition our son would function well also.
As far as ancestry goes, I believe we are from English and German
descent so I don't know how our son developed APS. There is no
history of autoimmune conditions in our family that we know of. What
part of the US are you from?
Please keep in touch,
Thanks, Vicki

> HI all,
>
> I'm new to the group - a veteran of APS I though as some others
I've
> seen on here.  I am 26 and have had this for 23-24 years.  I was
> diagnosed late with hypoparathyroidism - i had seizures at age 3
but
> the doctors thought it was epilepsy.  It wasn't until my
> opthamologist noticed my ugly nails and cataracts in both eyes that
> he alerted the endocrinologist of possible hypocalcemia and
> hypoparathyroidism.  I also have Addison's Disease, Pernicious
> anemia, diabetes insipidus (not to be confused with diabetes type 1
> or 2), enamel hypoplasia(lack of enamel on most teeth) and chronic
> yeast infections and fungal infections.  I function well - with
> Addison's being the most difficult to deal with - I work now -
> looking to go full-time soon (just graduated so I'm in the job
> hunt).
>
> I'm curious though, I had human growth hormone deficiency as a
child
> and that is not typical with APECED.  Anyone else have pituitary
> gland involvement or their children have it?
>
> Also, from my research it seems as APECED is autosomal recessive,
> APS I patients have ancestry to Finland, Iranian Jews, or
> Sardinians, so how I am in the US with this I can only gather I
> probably am from Scandinavia way back some time - I'm only aware of
> Irish descent on my mother's side.  Anyway, is anyway in this group
> from the US?  It seems that there is more research and knowledge
> about this in Europe, unfortunately for me.  I'm just curious.
>
> Glad to join this group.
>
> Julia
>

HI LInda,

I was reading previous posts and your daughter's journey sounds very
similar to mine.  I hope we can be of support - I am 26 now and have
just recently been diagnosed with ppernicious anemia (in 2003 so I
guess not too recently) but have just now recovered the weight loss
I endured from the malabsorption.  It took soo long to feel better
and like your daughter I am tired alot, more now than before it
seems, but I can't remember a baseline normal anyway.  I would be
interested to hear about her diagnosis for type 1 diabetes - as that
is something I am keeping my eyes out for - what were the symptoms
at onset of the diagnosis?  how was she finally diagnosed? - like
you, I never knew I had APS type 1 until being diagnosed with
pernicious anemia so it's been just one diagnosis (usually a late
diagnosis) after another.  Any advice about working full-time vs
part time?  I just graduated with a degree dietetics but am not sure
if I should commit to a full time job - school was rough enough!
But then I wonder if I'm just scared and should give it a try.

Thanks

Julia

HI all,

I'm new to the group - a veteran of APS I though as some others I've
seen on here.  I am 26 and have had this for 23-24 years.  I was
diagnosed late with hypoparathyroidism - i had seizures at age 3 but
the doctors thought it was epilepsy.  It wasn't until my
opthamologist noticed my ugly nails and cataracts in both eyes that
he alerted the endocrinologist of possible hypocalcemia and
hypoparathyroidism.  I also have Addison's Disease, Pernicious
anemia, diabetes insipidus (not to be confused with diabetes type 1
or 2), enamel hypoplasia(lack of enamel on most teeth) and chronic
yeast infections and fungal infections.  I function well - with
Addison's being the most difficult to deal with - I work now -
looking to go full-time soon (just graduated so I'm in the job
hunt).

I'm curious though, I had human growth hormone deficiency as a child
and that is not typical with APECED.  Anyone else have pituitary
gland involvement or their children have it?

Also, from my research it seems as APECED is autosomal recessive,
APS I patients have ancestry to Finland, Iranian Jews, or
Sardinians, so how I am in the US with this I can only gather I
probably am from Scandinavia way back some time - I'm only aware of
Irish descent on my mother's side.  Anyway, is anyway in this group
from the US?  It seems that there is more research and knowledge
about this in Europe, unfortunately for me.  I'm just curious.

Glad to join this group.

Julia

Hi everybody,
I'm a bit of a computer idiot so its taken me a few days to get set up
so that i can post.

I have been in contact with Linda for about 2 years and she told me
about this site.Thanks Linda for all your help . Its great to have a
moan and also a laugh with someone who knows what you're going through.

My daughter Sorcha who is now 9 firstly got sick around 2 years of
age. It began with terrible diahorea and very sore eyes. She had
severe photophobia and ulcers on her eyes. She was very sick for two
years until she was diagnosed with APECED after going into a full body
spasm due to her calcium levels going so low.

Once she got diagnosed and on her medication she improved greatly but
still had her ups and downs. She regularly gets her bloods checked for
calcium levels, she has hypoparathyroidism, underactive thyroid, had
the beginnings of hepatitis- now normal, has inactive ulcers now on her
eyes but they have left scars which affect her sight, missing dental
enamel , her nails were very broken - now grown out perfect. Still has
problems with malabsorption - but not as bad.

Thankfully at the moment she is in great form , full of energy . We
have been told to expect Addisons, diabetes and ovarian failure. No
signs yet, so far so good.

ITs great to be able to chat to other parents with children who have
APECED, so this site is going to be busy , i just know it.

Hi Katie in Belfast, Linda e-mailed me about you and your son Jason.
Sorcha and Jason seem to have a lot in common especially with the
photophobia and sore eyes. You are only about and hour and a half away
from us in Donegal so hopefully we will get to know each other.

For me anyway it was hard to take in all that was happening to Sorcha.
Its really only hit me two years ago what APECED is really all about.
My family have been great but even though ive told them what APECED is
i dont really think they understand. Ive got two other girls but they
dont have APECED.

Hope to talk to you all soon,

Jacqueline.

hi vicki,
my son jason whom has apeced also has inflammation of the cornea in
both eyes, and severe dry eyes,
when he was just 14 months old i was told that the rash which he had
all over his body scarred his eyes.
at the time i was quit angry as i took my child to the hospital as i
was instructed to do so if the rash apeared near his mouth or eyes
and 'i was told that it was not accually in the eyelid' and sent
home. and after a few years of problems jasons doctor discovered
that he was very low in vitamin A.
Also i have read recently that inflamation of the cornea is another
part of apeced which i have yet to be told by a doctor was related.
And hi to Rosa,
I am sorry i can't tell you what to do, i can just tell you what i
have done, I like karen have told everyone close to my family and
friends and also jasons school. I feel that its nothing to be
ashamed off. and if i inform everyone who will listen then there is
more chance that when his adrenal gland fails then there will be an
adult close by to get him help. Jason looks quit well so people
sometimes give me funny looks when i fuss. But my sons sugar levels
drop and he has seizures and also can not see when we are out doors
and there is sun light. So i need help from others like class room
assiants in school and granparents etc...
Although know one seems to realise what exactly is wrong with him
and what apeced is, i try to explain away from his small ears so
that i am not making a fuss and he is not treated different.
The day he was diagnosed i went straight home and told my mum. She
sat and cried and i was about to go on my driving test, so i tried
to keep calm, when i later explained that i had, had my test she
realised that i was very upset and was trying to keep a brave face.
I personaly feel that its better to talk things through, my partner
will always listen and so will both my parents, but it is better to
to speak with people who know what you are going through. also  i
think that sometimes the doctors originally put me off, saying that
there was nothing wrong with jason as i am a young mother, i had
jason at the age of 16 and i am at present 24. my persistants paid
off, as a mother always knows best,
Take care... and karen you are not alone, i also have 2 hospital
appointments today also for jason, so hope everything goes well

Hi everybody,
I'm a bit of a computer idiot so its taken me a few days to get set up
so that i can post.

I have been in contact with Linda for about 2 years and she told me
about this site.Thanks Linda for all your help . Its great to have a
moan and also a laugh with someone who knows  what you're going through.

My daughter Sorcha who is now 9 firstly got sick around 2 years of
age.  It began with terrible diahorea and very sore eyes.  She had
severe photophobia and ulcers on her eyes.  She was very sick for two
years until she was diagnosed with APECED after going into a full body
spasm due to her calcium levels going so low.

Once she got diagnosed and on her medication she improved greatly but
still had her ups and downs.  She regularly gets her bloods checked for
calcium levels, she has hypoparathyroidism, underactive thyroid, had
the beginnings of hepatitis- now normal, has inactive ulcers now on her
eyes but they have left scars which affect her sight, missing dental
enamel , her nails were very broken - now grown out perfect. Still has
problems with malabsorption - but not as bad.

Thankfully at the moment she is in great form , full of energy .  We
have been told to expect Addisons, diabetes and ovarian failure. No
signs yet, so far so good.

ITs great to be able to chat to other parents with children who have
APECED, so this site is going to be busy , i just know it.

Hi Katie in Belfast, Linda e-mailed me about you and your son Jason.
Sorcha and Jason seem to have a lot in common especially with the
photophobia and sore eyes.  You are only about and hour and a half away
from us in Donegal so hopefully we will get to know each other.

For me anyway it was hard to take in all that was happening to Sorcha.
Its really only hit me two years ago what APECED is really all about.
My family have been great but even though ive told them what APECED is
i dont really think they understand.  Ive got two other girls but they
dont have APECED.

Hope to talk to you all soon,

Jacqueline.

Hi everyone,

Since joining this group 3 days ago I have been checking my emails
every day.  Can't believe it, we have had more messages in the last
few days than in the last few years, you must be over the moon
Linda, well done.  Having read some the messages I feel that I would
like to share my perspective on a couple of points.  To Rosa who is
having a probem about whether or not to tell her family about her
sons condition.  Firstly everyone copes in different ways and there
isn't a right way or a wrong way it is whatever helps you to cope
the best.  Personally I am an extremely open person and would have
told and still would anyone who would listen about my daughters
(maybe thats why I havn't many friends ha ha).  Amy and Charlotte
however, once they came to realise felt very differently.  Family
and friends were never a problem to them, but they didn't want
people who wern't directly involved to know. As they got older it
didn't bother them as much, until the ovaries became involved at the
age of 14.  At this point if we were discussing their apeced they
would throw me a look to say don,t mention our ovarian failure.  I
think chilren don't like to feel different.  They are both now 18,
and any apprehension towards speaking openly about themselves has
gone.  I feel that you are what you are and should be accepted and
loved as such.  I am not sure of your reasons for not wanting to
tell your family.  If it is just that you dont know how to approach
the subject, or you dont want your family to worry.  On a practical
note, as you are aware this is a genetic condition and there is a
possibility that your brothers and sisters also carry the defective
gene, which they could pass on to their children and they may well
wish to know if that is the case.  Also, you say that your son is
not on any meds at the moment, but if he develops addisons he
certainly will be.  I feel that anyone who is likely to care for any
of our children should be told that they have addisons.  As it can
be the case that what is a minor illness to others ie a cold can
quickly escalate into something more serious in someone who has
addisons and I feel that they should be aware of this to spot the
signs.

To Linda I would be very interested to see the research that you
mentioned is ongoing at Oxford University ( not sure if you mean
Oxford in England which I dont live too far from, or if there is an
Oxford in the US)

I hope that my thoughts are helpful to you in deciding how to
approach your problem and if your main concern is knowing how to
tell your family, maybe you could show them some of the emails from
this site so they could appreciate your dilema.

My thanks to you all for your input on this site, I look forward to
hearing from anyone who wants to talk and Rosa please let me know
how you get on.

Anyway I am off to the hospital shortly for yet another check up,
hope to hear from you soon

Love Karenxxx

Hello everyone. I am 41 years old and live in France. I have APS. I had
the good fortune of finding a doctor in Geneva (which I live very near
to) who headed up a research project ten years ago that cloned the gene
for APS I. After closer inspection of my condition, he found that while
I have do in fact have APS, I do not have any particular published
version, I, II or III. It is quite complicated. But, what he and his
colleagues have theorized is that in fact APS is a spectrum and that it
is difficult to put anyone into one category. They think it will be
like MS in that regard, that each person falls somewhere in the
spectrum but with key elements to confirm the diagnosis. As for me, I
have idiopathic hypoparathyroidism, hoshimotos, secondary adrenal
disfuntion, and pituatary disfunction on one axis (adrenal). Most
recently I have had difficulty in my hips that in early speculation,
still to be confirmed, may be rheumatoidal arthritis. I would love to
correspond with others who have this condition. I feel great, by the
way. Work full time at the United Nations. Really no complaints.
Wonderful, incredible, caring healthcare here. All the best to everyone.

My 24 yr old son has APCED. It began with an eye condition at age 4,
then candidias soon after, and at age 15 was diagnosed with autoimmune
hepatitis and HPTH. At age 20, addison's disease. His major problem at
the moment is his eye condition. He has scarring of the corneas and
impaired vision, and we were recently told by a occular immunologist in
Boston his candidias may be related to this.  He has attended college
but has missed several semesters due to his health problems.
I would love to hear from other mothers of children with APCED, and
anyone who might also have a related eye condition such as my son.
I am so grateful to Linda for all of her work on this website.  She is
a  wonderful and kind person, and I know it will help all of us to
share our worries with each other.
Vicki
(from Houston,Texas)

Hi Rosa,
I also found the Sunday breakfast at Dr. Maclaren's office an
unbelieveable experience.
For those of you that are not patients of Dr. Maclaren or live in
far off locations let me explain:
Dr. Noel Maclaren is a pediatric endocrinologist who has done
extensive research in autoimmunity, diabetes and APS 1.  He invited
his local patients with their families to his office a few weeks
back to meet one another, share stories and become a support
network.  My daughter and I attended and felt a close bond with
every child and adult who was present.  Tara took each story to
heart and was reminded of some of the more difficult times in her
life.  She hopes the children will email her, ask any questions and
she will be happy to respond.  Perhaps she will join this board
along with the other children/adults with APS 1 who use the
internet. Send me a private email and I will send you Tara's.
Rosa, you touch on a difficult question whenever family members are
involved.  When Tara was first diagnosed we had no idea that it was
genetic.  She had hypoparathyroidism and malabsorption but no one
knew why.  Her doctor knew it was a syndrome and she would get
Addisons and she had antibodies indicating diabetes was also a
possibility.  It wasn't until she was 26 that we learned she had APS
1 from Dr. Maclaren's research.  Our family had various reactions to
Tara's many hospitalizations when she was age 3 to 8. Then she was
fine up until age 26. The grandparents were supportive but aunts and
uncles were not- They just went on with their lives and never took
her illness seriouly.
However once they learned about APS 1- 8 years ago their attitude
softened and they became much more involved when she was in the
hospital and much more supportive as a family.
I think each of us has to follow our instinct and you have a feeling
it is better for everyone not to know the exact nature of you son's
illness.  Maybe you have a sense they cannot handle the fact that it
is genetic- that some family members could also have the recessive
gene?  I don't know if that is the case anyway but it could be a
normal concern. Maybe you think they would feel differently about
your son or be more worried and anxious than they already are.
Tara is adopted so those issues never came up for us but they are
real issues and can cause anxiety.
But whatever the reason you have so much to deal with just taking
care of your beautiful son ( I met him, remember)and perhaps your
son wants to retain some privacy about the illness as well. Maybe
when he is older he can explain to everyone what is going on and it
will be easier for everyone to accept. I do know, having met you and
listened to you, that you will make the right decision for you and
your family.
Perhaps feedback from other members of this group will also help.
I wish you and your family and all the other families on this board
a good evening.
Linda

Hello Everyone,
         Thank you Linda for sending me this site.I'd like to let you
know about my 24 yo daughter, Becky.( see picture in photos) She has
APS 1. It all started when she was 2 yo. She first got
hypoparathyroism,9 months later the malabsorption started. When she
was around 6 or 7 she got hypothyroidism and pernicious anemia. We
discovered the hypogonadism when she in her early teens. right after
she graduated she got Diabetes. Several years ago Addison's was
diagnosed. She has had kidney stones in the past. She has
intermittent bouts of candida. She has osteoporosis due to poor
absorption Vitamin D. There was a time when Becky had keratopathy
and night blindness from vitamin A deficiency. Once we got her
levels up it resolved. We have been fortunate to be able to get PTH
through Dr Winer at NIH. It is the only way we can keep Becky's
calcium at an aceptable range. I think she would be dead without it.
Becky also for several years has required TPN( total IV nutrition)
and a PICC line. The malabsorption is so bad she gets severely
malnourished and her labs are very bad. The problem with the PICC
line is you end up getting sepsis (blood infection) after it is in
so long. This frightens me as one can get an infected heart valve
from them.
          I hope we all can share information. It has always been so
helpful for us. We have learned a lot from others and I hope I can
offer others some help. Sincerely, Susan

Hi Linda and everyone, I am so happy that this support group was
created.  I am glad that we met 2 weeks ago at Dr. Maclaren's
office.  My 10yr old son, Joel was diagnosed with APS1 in May 2006.
We came upon this diagnosis because my son has Metaphyseal
Dysplasia, a rare bone problem that causes him pain in the ankles
and sometimes knees.  Dr. Andrew Eichenfield, a Rheumatology
specialist from Presbyterian Hospital NYC, did x-rays on my son and
compared it to others in the internet that look similar.  This is
how I came to know about APECED, which is what he called it. I did
research and found an excellent doctor, Dr. Noel Maclaren, whom
confirmed this disease through genetic testing. I always felt that
there was a problem with my son's health since he was 11 months
old.  That's when he developed mucocutaneous candidisis in the
mouth, and fingernails at 5yrs( cleared at 5 1/2 yrs), rashes on the
body when he was about to get sick, chronic cough, rapid, deep
breathing, low white blood cells, fungus in one ear at 6yrs, and was
hospitalized in 1998 4x.  In Jan 2000, was the last time he was
hospitalized.  He would get sick frequently and was followed up by
an infectuous disease doctor and an immulologist that would always
check his blood.  Everything looked good in the blood except for the
wbc which was always lower that normal. Today, he is much healthier
despite the fact that he has adrenal problems, chronic active
hepititis( liver specialist at Mt. Sinai said that it is very mild
and does not need a biopsy), and the beginning of Addison's disease.
I do not see any of the symptoms that should be present with all
these problems caused by the disease. Also my son is not taking any
medications at all. My son's main problem is the pains in his ankles
that does not allow him to walk long distances.  I was told and read
articles that this problem should clear up in the teenage years. My
son knows about his condition.  I told him to tell me of any
symptoms that may arise in the future.  I have a major problem and
need your help and opinion.  My family does not know about my son's
disease.  All I tell my parents, sister, brother and my husband's
family is that my son has a weaker immune system and that's why we
take extra care of him when he gets sick. My mother adores my son,
since he is her  first grandson.  She's 58yrs old and is also sick
with chronic cystitis, mycosis fungoides (skin cancer),
fibromalysia, and chronic migraines. My father 57yrs old is fine but
I am afraid to talk.  I don't know what to say.  Please give me your
advice since I know you all went through this difficult stage
already.

Rosa R.

Hi Kathy and Karen,
I am glad both of you found this board and the timing couldn't have
been better.  So many exciting things are finally happening.  There
is a study at Oxford University recently published that I will send
each of you in an email. I also emailed all the vaious parents I
have been in touch with over the years as well as my daughter and
some other teens and adults who have APS 1 so they can join this
forum and we can learn and support one another.
I look forward to hearing from everyone out there, even those of you
who may be lurking so.....
Have a good evening.
Linda

--- In apeced@yahoogroups.com, "kathy" <katee5j@...> wrote:
>
> Hi karen,
> My name is kathy jones and i recieved an email from yourself
today,
> and i just wanted to say welcome,
> i am so sorry to hear about your 3 daughters
> my son is 7 years old and he has apeced, we are from belfast
> n.ireland and through the internet i have met some lovely people
> whom have apeced or whose children have it,
> I just came across this site by chance also last week and i think
it
> is wonderful, Linda is a lovely kind and very thoughtful lady who
> has already put me in contact with a childs mum closer to home in
> ireland, i am also in contact with a lady in london whom has
apeced
> but most of all has brillant knowledge and when ever i am worried
or
> upset etc i can phone her, plus i am in contact with a professor
> whom has apeced and is studying it also, so its good to bluid up a
> network of friends whom you can turn to for advice.
> When my son was first diagnosed i was very afraid and felt very
> alone, i didn't know what apeced was and i wish i had this forum,
> I was only 20 when he was diagnosed and although i had the support
> of my family i need to speak to someone who what i was talking
about.
> i just wanted to let you know if in any way i can help or give
> advice i will, and i will run it pass my new found friends also,
you
> can email anytime and take care katee5j@...
>

Hi karen,
My name is kathy jones and i recieved an email from yourself today,
and i just wanted to say welcome,
i am so sorry to hear about your 3 daughters
my son is 7 years old and he has apeced, we are from belfast
n.ireland and through the internet i have met some lovely people
whom have apeced or whose children have it,
I just came across this site by chance also last week and i think it
is wonderful, Linda is a lovely kind and very thoughtful lady who
has already put me in contact with a childs mum closer to home in
ireland, i am also in contact with a lady in london whom has apeced
but most of all has brillant knowledge and when ever i am worried or
upset etc i can phone her, plus i am in contact with a professor
whom has apeced and is studying it also, so its good to bluid up a
network of friends whom you can turn to for advice.
When my son was first diagnosed i was very afraid and felt very
alone, i didn't know what apeced was and i wish i had this forum,
I was only 20 when he was diagnosed and although i had the support
of my family i need to speak to someone who what i was talking about.
i just wanted to let you know if in any way i can help or give
advice i will, and i will run it pass my new found friends also, you
can email anytime and take care katee5j@...

--- In apeced@yahoogroups.com, "lsquittman" <lsquittman@...> wrote:
>
> Hi Karen and welcome to the site!
>
> I started this message board a while ago and only recently feel it
> is serving a purpose.  It sounds as if you have experienced what
> most of us have experienced, only in triplicate. I am so sorry to
> hear about the loss of your daughter because the doctors didn't
> cathch the Addisons.  It still amazes me that in this day and age
so
> many children are not being properly diagnosed.  My own daughter
is
> now 34 and she was misdiagnosed for the first three and a half
years
> and we did almost lose her.
> Karen, where are you from?  I live in new York State just outside
of
> NYC.  I have made contacts in many pats of the world and could
> direct you to some other mothers.
> My daughter has hypoparathyroidism, Addisons, Pernicious Anemia,
> Diabetes and malabsorption.  Not a fun list at all. How old are
your
> girls?
> Dehydration is a major problem for my daughter also.  She just got
> our of the hospital last week after two days of IV's because she
has
> stomach problems.
> I am going to email you directly also and give you some further
> information.
> Let's stay in touch.
> Best wishes,
> Linda
>
> --- In apeced@yahoogroups.com, "karenza_58" <karenza.glover@>
> wrote:
> >
> > hi everyone,
> >
> > came upon this site as I was browsing apeced.  I am a mom whose
> > three daughters diagnosed with apeced.  All three followed same
> > progression.  Firstly hypoplasia of enamel of the teeth which
was
> > not recognised as a symptom of anything else.  Next my eldest
> > daughter suffered from fits, diagnosed as hypocalcemia and
> > parathyroid failure and treated as such.  Unfortunately she
later
> > died after a minor operation.  Found to have adrenal failure.
My
> > other daughters had already been diagnosed with parathyroid
> failure
> > and one had severe candidiasis in her fingernails. They were
then
> > tested for adrenal function.  Both were found to be low and
apeced
> > was diagnosed.  Since diagnosis one daughter has lost thyroid
> > function and both have lost ovarian function. Interestingly
these
> > two daughters are identical twins, but one seems to cope with
the
> > condition better than the other.  They both seem to follow
> > progression closely, but the elder twin has had problems over
the
> > last few years which seem to relate to dehydration.  She only
has
> to
> > get a slight cold and ends up in hospital.  This year she has
> spent
> > 8 months on and off in hospital.  She also suffered from severe
> > cramps in her legs which often left her immobolised, during last
> > admission this has been sorted (hopefully) low pottassium and
> > magnesium.  She also suffers from acute lethargy (linked I think
> to
> > adrenal function.  I have never come across anyone else with
this
> > condition and would love to hear from others who suffer from
this
> > often misdiagnosed condition.
> >
> > Karen.
> >
>
Hi Linda,

Thank you for your reply to my message. I am sorry your daughter has
recently had another spell in hospital.  Although I think you get
used to it I know that as a mother you still worry greatly everytime
they are admitted.  Dont know about you but I worry everytime that
they will find some other new manifestation.  They have recently
tested my daughter for malabsorbtion and diabetes insipidus
thankfully both are negative at this time.  As I said previously her
sister seems well and has just started university, she is due to
start university in february but worry how she will cope, as she
went to college for 2 years and lost a lot of time due to
hospitilisation.  It took her a lot of effort to complete the
course, just hope she'll be ok at uni.  My daughters are 18 and we
live near to Birmingham in the UK.

Look forward to hearing from you,

karen

Hi Karen and welcome to the site!

I started this message board a while ago and only recently feel it
is serving a purpose.  It sounds as if you have experienced what
most of us have experienced, only in triplicate. I am so sorry to
hear about the loss of your daughter because the doctors didn't
cathch the Addisons.  It still amazes me that in this day and age so
many children are not being properly diagnosed.  My own daughter is
now 34 and she was misdiagnosed for the first three and a half years
and we did almost lose her.
Karen, where are you from?  I live in new York State just outside of
NYC.  I have made contacts in many pats of the world and could
direct you to some other mothers.
My daughter has hypoparathyroidism, Addisons, Pernicious Anemia,
Diabetes and malabsorption.  Not a fun list at all. How old are your
girls?
Dehydration is a major problem for my daughter also.  She just got
our of the hospital last week after two days of IV's because she has
stomach problems.
I am going to email you directly also and give you some further
information.
Let's stay in touch.
Best wishes,
Linda

--- In apeced@yahoogroups.com, "karenza_58" <karenza.glover@...>
wrote:
>
> hi everyone,
>
> came upon this site as I was browsing apeced.  I am a mom whose
> three daughters diagnosed with apeced.  All three followed same
> progression.  Firstly hypoplasia of enamel of the teeth which was
> not recognised as a symptom of anything else.  Next my eldest
> daughter suffered from fits, diagnosed as hypocalcemia and
> parathyroid failure and treated as such.  Unfortunately she later
> died after a minor operation.  Found to have adrenal failure.  My
> other daughters had already been diagnosed with parathyroid
failure
> and one had severe candidiasis in her fingernails. They were then
> tested for adrenal function.  Both were found to be low and apeced
> was diagnosed.  Since diagnosis one daughter has lost thyroid
> function and both have lost ovarian function. Interestingly these
> two daughters are identical twins, but one seems to cope with the
> condition better than the other.  They both seem to follow
> progression closely, but the elder twin has had problems over the
> last few years which seem to relate to dehydration.  She only has
to
> get a slight cold and ends up in hospital.  This year she has
spent
> 8 months on and off in hospital.  She also suffered from severe
> cramps in her legs which often left her immobolised, during last
> admission this has been sorted (hopefully) low pottassium and
> magnesium.  She also suffers from acute lethargy (linked I think
to
> adrenal function.  I have never come across anyone else with this
> condition and would love to hear from others who suffer from this
> often misdiagnosed condition.
>
> Karen.
>

hi everyone,

came upon this site as I was browsing apeced.  I am a mom whose
three daughters diagnosed with apeced.  All three followed same
progression.  Firstly hypoplasia of enamel of the teeth which was
not recognised as a symptom of anything else.  Next my eldest
daughter suffered from fits, diagnosed as hypocalcemia and
parathyroid failure and treated as such.  Unfortunately she later
died after a minor operation.  Found to have adrenal failure.  My
other daughters had already been diagnosed with parathyroid failure
and one had severe candidiasis in her fingernails. They were then
tested for adrenal function.  Both were found to be low and apeced
was diagnosed.  Since diagnosis one daughter has lost thyroid
function and both have lost ovarian function. Interestingly these
two daughters are identical twins, but one seems to cope with the
condition better than the other.  They both seem to follow
progression closely, but the elder twin has had problems over the
last few years which seem to relate to dehydration.  She only has to
get a slight cold and ends up in hospital.  This year she has spent
8 months on and off in hospital.  She also suffered from severe
cramps in her legs which often left her immobolised, during last
admission this has been sorted (hopefully) low pottassium and
magnesium.  She also suffers from acute lethargy (linked I think to
adrenal function.  I have never come across anyone else with this
condition and would love to hear from others who suffer from this
often misdiagnosed condition.

Karen.

hi linda,
my sons name is jason and he was born a healthy baby. it was when he
was 14 months that Jasostarted having quite a few problems with his
health. He has low calcium, vitamin A, vitamin E and vitamin D. when
Jason was 14 months old he had a condition which was believed to at
the time to be Stevens Johnson syndrome which scared the cornea of
his eyes, leaving him with keratitis (which is inflammation of the
cornea in both eyes), The specialist  Jason sees now believes his
problems was to do with his lack of vitamin A and at the end of
November he plans to access Jason under general anaesthetic as Jason
can not tolerate light enough for him to access the situation or to
find out which lens for glasses he needs. . Jason has to wear react
alight glasses prescribed by the eye specialist and a sun hat to
shade his eyes all the time while outdoors. Jason's eyes can be
sometimes itchy, burning, irritating, red and he suffers poor
vision. At home I have to keep my blinds closed in the morning and
tilted in the afternoon as the light hurts his eyes.
He has also been left with a very low immune system. He is always
prone to infection and has diahorrea or constipation most weeks,
when Jason gets a head cold he regularly ends up in the doctors or
A&E, he comes out in a rash, which doctors can't understand. They
think he becomes allergic to the virus he gets. He also has a dry
skin condition called keratosis pilaris, and this causes lots of
different problems when playing with paints dough etc, and he has to
apply creams all through the day and be careful what he washes with.
Jason attends hospital every couple of months and has general
anaesthetics often. On a few occasions he has had to get temporary
collagen plugs inserted into his eyelids. His condition also makes
him photosensitive. In march of the year Jason had a Hypocalcaemia
episode during a general anaesthetic and they couldn't wake him, he
was very lucky he didn't go into a coma and because of this reason
they are going to try and find a new method of treating him.
Jason also had a siezer due to a Hypocalcaemia episode in December
of last year and at present I check his blood sugar levels regularly
to try and prevent this from happening again, Jason's condition is
made up of three factors hypoparathyroidism, candidiasis and adrenal
failure, at present he has hypoparathyroidism and candidiasis and we
are waiting on his adrenal gland failing (this will happened before
he's a teenager) and he will develop diabetes.
Jason also has a genetic defect with his teeth, he has a condition
called genetic dentine inperfecto disorder, and this is some times
known as glass teeth. And due to this he has had to have 16 of his
teeth removed, and when he gets his new teeth they will all have to
be crowned in order to protect them, at present  he has 4 baby teeth
and 3 new adult teeth, and he is due to be accessed again in the
start of november. he is at present the only child in n.ireland who
has apeced that we know off and his calcuim levels are unstable at
the moment, i hop that this sheds more light for yourself on his
condition, take care and email soon... kathy

hi, i am a mum of a seven year old boy who has apeced syndrome, we are
from belfast and as of yet i know of no one who has apeced in
n.ireland, and i feel that this site could be a great support network,
i am on speaking terms with a really lovely lady whom has apeced in
london and she has given me great advice and hope for my sons future, i
am also in contact with jeanette, from jeanettes web site and the
advice they have both given me over the last few years has been
brillant, i think that its great that to speak with people who know
what my son i going through, take care kathy

Hello All,

    This syndrome is complex to say the least.  First the difference
between a disease and a syndrome.

    A disease affects and organ or group of tissues and causes them to
not work or work to much.

    A syndrome is a "disease" that not only effects an organ or group
of tissues and causes them to not work or work to much. BUT, it
causes another group to not work, and then another, and another.

    For example, the Thyroid produces a hormone that effects almost
every part of you...  So, almost any part of you can also go bad.

    We the people with APECED or the many variations of, have a
syndrome.  Which is worse than the other depends on what organs are
affected.
    For most people with diabetes, it is controlled, how ever those
with adrenal gland problems could have very serious problems or even
be fatal.

    No two people are alike and the many variations and organs that
can be involved make this a nightmare for you and for your Doctor to
treat you.

    Plain and simple... You need to find a very good Endocrinologist.

    For starters, Who does your primary Doctor recommend?

    Second, You can also contact your nearest University Hospital, ask
them for their Endocrinology dept.

    Also support groups may be of help, after all that is why you and
I are here.  "Hopefully I am giving sound advice."

    When you do go to see a doctor, have a list ready for Him/Her.
This makes everything so much easier and faster for both of you and
less chance of an error.
          "I use the computer, it makes updates easier."

    My list has the following:

1) Name address and other personal info they will need.
2) Diagnosis' and the approx. dates of occurance.
3) Surgeries, all of them, NEVER leave any part of your history out.
4) Medications, with the dosages and when taken. (KEEP UPDATED)
5) All other Doctors that you see and a phone number for their office.

    This is very important, you need all of your Doctors to be on the
    "same page" if you want proper treatment.

    (HAVE COPIES OF ALL LAB WORK AND STUDIES SENT TO ALL DOCTORS
    INVOLVED IN YOUR CARE)

    Remember, this is YOUR health, don't be afraid to ask questions.

    Start a list of questions for your Doctor so you can't forget.

    Keep a file of your records at home, ask for a copy from each
visit.
    Your doctor should not have a problem with this.
    If He/She does have a problem with this, "ask why."
    Don't be afraid or intimidated to ask.
    Again, this is your health, and you are entitled to this
information.

    I hope this is benificial to all;

         Sincerely
         Jerry Armstrong
         GRA1963@...

Hi Jerry,
Welcome to this board.  I was hoping to attract people with APECED
so we could share information and experiences and act as a
supporting forum whenever needed.  The other boards do deal with
Addisons, HPTH, Diabetes, etc., but the members have different needs
and problems.
My daughter has
  HPTH- age 3,
  Addisons- age 6,
Rheumatoid Arthritis- age 14,
Pernicious Anemia- age 26
Diabetes Type 1- age 32
But her biggest problem was the malabsorption at ages 26, 30 and 32.
She is doing well at the moment although she is more tired than she
used to be.  She just got married and is working part time.
I would love to hear more about you and how APECED has affected you
and if you have any questions.
perhaps there are other people out there who don't feel comfortable
posting on a board but could benefit from our experiences.
Best wishes,
Linda

Hello All,

    I am Gerald Armstrong, I would like to be in this group because of
the fact that there are so few of us with this syndrome.
    I am more than willing to share any knowledge I have.
.
         Jerry
         GRA1963@...

Hello to all of you.  I am joining this group because my 32 year old
daughetr has APECED, APS 1, and I feel it is important to share
information and support to those faced with APS1 on a daily basis.
This group should be active and world wide because there are so few
of us and we need all the help we can get.  For most of my
daughter's life we didn't even know about APECED and things kept
happenning and were dealt with on an individual basis without the
whole picture in mind. To all of you out there, tell everyone you
know who is also dealing with APECED about this forum so we can
learn and support one another during the difficult times.
I look forward to your feedback.
Best wishes,
Linda

This eGroup for APECED Syndrome has been established for patients, family,
educators and medical professionals intereted in sharing information and/or
support for those affected by this rare disorder.

Group Manager: apeced-owner@egroups.com

To subscribe, send a message to apeced-subscribe@egroups.com or go to the
e-group's home page at http://www.egroups.com/list/apeced