RE: adult bpes & infertility

[Guest guest]

>any mothers who have bpes & have now grown daughters who may or may not

>have fertility problems & how did you find out? (If you have, i.e.)

You don´t have to wait until adolescence to find out. We have just received

a’s (19 month) genetic test results. a has a Fox L2 Mutation

904delC. This Mutation leads to a deleted/shortened gene with 145 instead of

376 Amino acids. This is regarded to be BPES Type 1 and the genetics said

that she will most likely develop POF (premature ovarian failure). They

strongly recommended endocrinological counseling/treatment when she is 8 or

9 years old, because she might need hormone therapy before puberty.

Anja

>From: " chinagal46 " <gourley@...>

>Reply-blepharophimosis

>blepharophimosis

>Subject: blepharophimosis adult bpes & infertility

>Date: Sat, 17 Jan 2004 12:29:08 -0000

>

>Hello all

>Thanks for all the great reading. Are there any mothers who have bpes

> & have now grown daughters who may or may not have fertility problems

> & how did you find out? (If you have, i.e.)

>Also, has anybody got involved with K Small whose lab. was doing some

>research into the gene involved in bpes?

>Maree

>

_________________________________________________________________

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[Guest guest]

Anja

Please where does one have such testing done and receive the documentation?

son?

Anja Shahin <anjashahin@...> wrote: >any mothers who have bpes & have now grown daughters who may or may not >have fertility problems & how did you find out? (If you have, i.e.)You don´t have to wait until adolescence to find out. We have just received a’s (19 month) genetic test results. a has a Fox L2 Mutation 904delC. This Mutation leads to a deleted/shortened gene with 145 instead of 376 Amino acids. This is regarded to be BPES Type 1 and the genetics said that she will most likely develop POF (premature ovarian failure). They strongly recommended endocrinological counseling/treatment when she is 8 or 9 years old, because she might need hormone therapy before puberty.Anja>From: "chinagal46" <gourley@...>>Reply-blepharophimosis >To:

blepharophimosis >Subject: blepharophimosis adult bpes & infertility>Date: Sat, 17 Jan 2004 12:29:08 -0000>>Hello all>Thanks for all the great reading. Are there any mothers who have bpes> & have now grown daughters who may or may not have fertility problems> & how did you find out? (If you have, i.e.)>Also, has anybody got involved with K Small whose lab. was doing some>research into the gene involved in bpes?>Maree>_________________________________________________________________5 neue Buddies = 50 FreeSMS. http://messenger-mania.msn.de MSN Messenger empfehlen und kräftig abräumen!

[Guest guest]

>Please where does one have such testing done and receive the documentation?

The Lab´s adress in Belgium where we had our testing done is:

Universteit Gent

Centrum voor Medische Genetica

Prof. Dr. Anne De Paepe

Universitair Ziekenhuis - 0K5

De Pintelaan 185

9000 Gent - Belgium

phone Secretariaat: 09-2403603

Only a blood sample of each test person is needed. Our geneticist in Germany

took the blood samples and mailed it to the lab in Belgium. It took 3 month

until we received the results. The costs for a whole family are 400 Euros

and were covered by the insurance.

Anja

>From: anna <annaloretta17692@...>

>Reply-blepharophimosis

>blepharophimosis

>Subject: RE: blepharophimosis adult bpes & infertility

>Date: Sat, 17 Jan 2004 08:02:23 -0800 (PST)

>

>

>

>

>Anja

>

>Please where does one have such testing done and receive the documentation?

>

> son?

>

>

>

>Anja Shahin <anjashahin@...> wrote: >any mothers who have bpes &

>have now grown daughters who may or may not

> >have fertility problems & how did you find out? (If you have, i.e.)

>

>You don´t have to wait until adolescence to find out. We have just received

>a’s (19 month) genetic test results. a has a Fox L2 Mutation

>904delC. This Mutation leads to a deleted/shortened gene with 145 instead

>of

>376 Amino acids. This is regarded to be BPES Type 1 and the genetics said

>that she will most likely develop POF (premature ovarian failure). They

>strongly recommended endocrinological counseling/treatment when she is 8 or

>9 years old, because she might need hormone therapy before puberty.

>

>

>Anja

>

>

>

>

> >From: " chinagal46 " <gourley@...>

> >Reply-blepharophimosis

> >blepharophimosis

> >Subject: blepharophimosis adult bpes & infertility

> >Date: Sat, 17 Jan 2004 12:29:08 -0000

> >

> >Hello all

> >Thanks for all the great reading. Are there any mothers who have bpes

> > & have now grown daughters who may or may not have fertility problems

> > & how did you find out? (If you have, i.e.)

> >Also, has anybody got involved with K Small whose lab. was doing some

> >research into the gene involved in bpes?

> >Maree

> >

>

>_________________________________________________________________

>5 neue Buddies = 50 FreeSMS. http://messenger-mania.msn.de MSN Messenger

>empfehlen und kräftig abräumen!

>

>

>

>

[Guest guest]

THANK YOU ANJA........I am very thankful for this information.It may assist my neice who is now 18.

Anja Shahin <anjashahin@...> wrote: >Please where does one have such testing done and receive the documentation?The Lab´s adress in Belgium where we had our testing done is:Universteit GentCentrum voor Medische GeneticaProf. Dr. Anne De PaepeUniversitair Ziekenhuis - 0K5De Pintelaan 1859000 Gent - Belgiumphone Secretariaat: 09-2403603Only a blood sample of each test person is needed. Our geneticist in Germany took the blood samples and mailed it to the lab in Belgium. It took 3 month until we received the results. The costs for a whole family are 400 Euros and were covered by the insurance.Anja>From: anna <annaloretta17692@...>>Reply-blepharophimosis >blepharophimosis >Subject: RE: blepharophimosis adult bpes & infertility>Date: Sat,

17 Jan 2004 08:02:23 -0800 (PST)>>>>>Anja>>Please where does one have such testing done and receive the documentation?>> son?>>>>Anja Shahin <anjashahin@...> wrote: >any mothers who have bpes & >have now grown daughters who may or may not> >have fertility problems & how did you find out? (If you have, i.e.)>>You don´t have to wait until adolescence to find out. We have just received>a’s (19 month) genetic test results. a has a Fox L2 Mutation>904delC. This Mutation leads to a deleted/shortened gene with 145 instead >of>376 Amino acids. This is regarded to be BPES Type 1 and the genetics said>that she will most likely develop POF (premature ovarian failure). They>strongly recommended endocrinological counseling/treatment when she is 8 or>9 years old, because she might need

hormone therapy before puberty.>>>Anja>>>>> >From: "chinagal46" <gourley@...>> >Reply-blepharophimosis > >blepharophimosis > >Subject: blepharophimosis adult bpes & infertility> >Date: Sat, 17 Jan 2004 12:29:08 -0000> >> >Hello all> >Thanks for all the great reading. Are there any mothers who have bpes> > & have now grown daughters who may or may not have fertility problems> > & how did you find out? (If you have, i.e.)> >Also, has anybody got involved with K Small whose lab. was doing some> >research into the gene involved in bpes?> >Maree> >>>_________________________________________________________________>5 neue Buddies = 50 FreeSMS. http://messenger-mania.msn.de

MSN Messenger>empfehlen und kräftig abräumen!>>>>