About developmental delays

[Guest guest]

Hi,

In my family we are now 6 with BPES. It all started with my grand-mother (on my father's side). She passed it on to my father but not to my aunt. My father has three children and we all have BPES. I now have a daughter, Alice 4 months old, and I passed on the BPES to her.

None of us have ever had any problems what so ever from the BPES (except looking different from other people) and we have had comments, but that is all. None of us have had any developmental delays or any other problems. We have all univercity exams (except little Alice...) and have never experienced any learning problems, hearing problems or being late with development.

Alice so far seems perfectly all right. She smiles and laughts and can almost sit by her-self all ready. So I think that she is fine. Her vision is also ok so we will wait with surgery until later.

I have some questions. If I don't have the type of BPES that involves infertility can Alice still have that type? How common is it to have that type (with the infertility issue)? I have understood that it is rare to have that type of BPES but maybe I'm wrong.

Is it always a 50-50% to pass on BPES? I'm thinking of my father who did pass it on to all three of us. Will that mean that I have a greater risk to pass it on to my children because he passed it on to all of us or is it 50-50% in ALL cases?

That was all for now. Take care!

Stina

[Guest guest]

Stina

I have the same questions that you have about the infertility issues, since my daughter Lily is the almost the same age as Alice.

As far as passing on the gene, it's 50-50 with each pregnancy. BPES is a dominant gene, so I have one Dominant gene from my dad and one recessive gene from my mother, and my husband has two recessive genes, with each pregnancy the baby receives one gene from each parent, so if you explore the possible combinations, it's always 50-50 that the baby will get one of my dominant genes which outweighs the recessive one from my husband.

My family history is similar to yours, except it started with my paternal grandfather, and in each generation only one baby inherited the gene, no siblings have it.

take care

BethStina Lasu <stina_ls@...> wrote:

Hi,

In my family we are now 6 with BPES. It all started with my grand-mother (on my father's side). She passed it on to my father but not to my aunt. My father has three children and we all have BPES. I now have a daughter, Alice 4 months old, and I passed on the BPES to her.

None of us have ever had any problems what so ever from the BPES (except looking different from other people) and we have had comments, but that is all. None of us have had any developmental delays or any other problems. We have all univercity exams (except little Alice...) and have never experienced any learning problems, hearing problems or being late with development.

Alice so far seems perfectly all right. She smiles and laughts and can almost sit by her-self all ready. So I think that she is fine. Her vision is also ok so we will wait with surgery until later.

I have some questions. If I don't have the type of BPES that involves infertility can Alice still have that type? How common is it to have that type (with the infertility issue)? I have understood that it is rare to have that type of BPES but maybe I'm wrong.

Is it always a 50-50% to pass on BPES? I'm thinking of my father who did pass it on to all three of us. Will that mean that I have a greater risk to pass it on to my children because he passed it on to all of us or is it 50-50% in ALL cases?

That was all for now. Take care!

Stina