Re: benjamin

[Guest guest]

Hello Maureen,

My son who has BPES is also two and he seems to be developing

normally I would guess. He doesn't speak clear sentences just yet

but he speaks two or three word phrases and also walked after he was

a year. My brother also has BPES, he's 28 now, but he was actually

smart as a kid and developed at a normal if not quicker rate. So in

our case I don't think BPES has affected development. What do your

doctors say? Have you tried to look it up online? Hope you find your

answers. Take care and Be Blessed

Bernadette

--- In blepharophimosis , " maureenwnc " <jcp@...>

wrote:

>

> My son turned 2 in August. He has gone to two genetic doctors who

> diagnosed him with BPES. The ophthalmologist does not see it as

> a " classic case " and thinks he may have some form of BPES.

>

> Do you guys see other symptoms/syndromes associated with BPES and

your

> children? Mental retardation? Developmental delays? My son

walked

> at 18 months. He was late hitting most developmental milestones.

He

> says single words now. He says some 2 words phrases but that is

about

> it. He had physical therapy and now receives speech therapy.

>

> Thanks

>

> Maureen

> Charlotte NC

>

[Guest guest]

> >

> > My son turned 2 in August. He has gone to two genetic doctors

who

> > diagnosed him with BPES. The ophthalmologist does not see it as

> > a " classic case " and thinks he may have some form of BPES.

> >

> > Do you guys see other symptoms/syndromes associated with BPES

and

> your

> > children? Mental retardation? Developmental delays? My son

> walked

> > at 18 months. He was late hitting most developmental

milestones.

> He

> > says single words now. He says some 2 words phrases but that is

> about

> > it. He had physical therapy and now receives speech therapy.

> >

> > Thanks

> >

> > Maureen

> > Charlotte NC

> >

>

Hi Maureen,

My name is , and I have a nephew, , who will be 2 in Nov.

He has BPES, and he is just now taking some steps by himself. He

cannot walk across the room alone, but just a few steps. My sister

has him going to physical AND occupational therapy. He doesn't

really talk either. He'll say mama, dada, bye, ball, and one or two

words at a time. He just recently got a metal walker, so he can

FINALLY get to where he wants to go- ( and BOY DOES HE GO!) He can

maneuver that walker around any corner or obstacle like you wouldn't

believe! He also wears glasses for farsightedness (and he likes to

see EVERYTHING, EVERYWHERE, ALL THE TIME!) He the most happiest,

lovable baby EVER! My sisters calendar is COMPLETELY FILLED each

month with appointments with just about every kind of Dr. you can

imagine! And,although is taking longer than most children

doing things, he IS a VERY intelligent boy, and once he is taught

something, he learns it very quickly. I'm thinking that one day,

he's gonna start talking and we wont be able to STOP him!! haha!

in CA.

[Guest guest]

The doctors say he is "developmentally delayed" because he reached the rolling over, sitting up, walking, etc milestones. I have looked it up online. Some people with blepharophimosis have other problems like mental retardation, cleft palate, heart problems, thyroid etc. He had an echocardiogram, lab tests, genetic testing. It all came back negative. I guess the only way to tell if it's not associated with anything but the eye appearance is to have a blood test sent to Belgium to see if it's on the FOXL2 gene.

Thanks for your input.

Maureen

blepharophimosis Re: benjamin

Hello Maureen, My son who has BPES is also two and he seems to be developing normally I would guess. He doesn't speak clear sentences just yet but he speaks two or three word phrases and also walked after he was a year. My brother also has BPES, he's 28 now, but he was actually smart as a kid and developed at a normal if not quicker rate. So in our case I don't think BPES has affected development. What do your doctors say? Have you tried to look it up online? Hope you find your answers. Take care and Be BlessedBernadette>> My son turned 2 in August. He has gone to two genetic doctors who > diagnosed him with BPES. The ophthalmologist does not see it as > a "classic case" and thinks he may have some form of BPES.> > Do you guys see other symptoms/syndromes associated with BPES and your > children? Mental retardation? Developmental delays? My son walked > at 18 months. He was late hitting most developmental milestones. He > says single words now. He says some 2 words phrases but that is about > it. He had physical therapy and now receives speech therapy.> > Thanks> > Maureen> Charlotte NC>

[Guest guest]

Dear Maureen

My name is and I have a 4 yr old daughter, Kirsten, who has

BPES. She is the only one in the family with the condition. The

reason I am responding to your message is that Kirsten was born with

a " hole in her heart " or a VSD, mild hypotonia and has a speech

problem. She has normal intelligence and reached her milestones as

expected.

It took 2 years, a number of speech therapists, 2 ENT surgeons and 1

cleft palate specialist to finally diagnose why she had a problem

speaking. She has a floppy soft palate, otherwise known as velo-

phayngeal insufficiency which results in her being unable to

pronounce words clearly. I am pleased to say that surgery to her

palate has yeilded good results.

Most of the doctors were trying to find a connection with BPES. She

has had genetic testing done and it shows a complete deletion of

FOXL2, which basically confirms BPES but doesn't offer more info

than that. I e-mailed Dr Oley, whom Shireen quotes occasionally, to

ask her opinion on whether there is a link between BPES and velo-

pharyngeal insufficiency and she said there is no link. Kirsten is

unfortunate to have more than 1 independent problem.

We started using Makaton sign language with Kirsten when she was 21

months old. We wanted to avoid as much frustration in communication

especially during the " terrible 2's " . It was fabulous and we still

use it for the odd time she wants to get her point across, otherwise

for now she prefers to speak. Learning sign language was fun and

easy and I can highly recommend it.

Her hypotonia is more obvious when she is running, (she will never

win a 100m sprint!), and now she is 4 yrs old she is just managing

to stand on 1 leg but can't hop very well. Her gross motor skills

are probably 6 months behind at the moment.

I find I have to keep pushing the various medical therapists or

doctors to ensure Kirsten gets the treatment I am happy with. I feel

that as a parent, we have to do the insisting because nobody else

will. Don't be embarrassed to be demanding and continue till you are

satisfied.

Kirsten is otherwise a typical 4 yr old, goes to the same school as

her older brother, has loads of friends and joins in with all that

they do, including ballet and swimming.

Good luck.

Parsons

Harrogate, UK

--- In blepharophimosis , " maureenwnc " <jcp@...>

wrote:

>

> My son turned 2 in August. He has gone to two genetic doctors who

> diagnosed him with BPES. The ophthalmologist does not see it as

> a " classic case " and thinks he may have some form of BPES.

>

> Do you guys see other symptoms/syndromes associated with BPES and

your

> children? Mental retardation? Developmental delays? My son

walked

> at 18 months. He was late hitting most developmental milestones.

He

> says single words now. He says some 2 words phrases but that is

about

> it. He had physical therapy and now receives speech therapy.

>

> Thanks

>

> Maureen

> Charlotte NC

>

[Guest guest]

Hi Maureen,

I am from Charlotte, NC too and I was wondering which geneticist you saw? My daughter and I both have BPES and I didn't even know that it existed until my daughter was born with the same eyes I have. We saw Dr. Spence at CMC to confirm that we both have BPES. I was the first in my entire family to have it so they just thought it was a birth defect when I was born. Neither I nor my daughter have any delays physically or mentally and Dr. Spence told me was that if there were other developmental delays, they were most likely unrelated to BPES.

Sorry if I have repeated what others have said. I just wanted to contact you since you live in Charlotte too.

blepharophimosis benjamin

My son turned 2 in August. He has gone to two genetic doctors who diagnosed him with BPES. The ophthalmologist does not see it as a "classic case" and thinks he may have some form of BPES.Do you guys see other symptoms/syndromes associated with BPES and your children? Mental retardation? Developmental delays? My son walked at 18 months. He was late hitting most developmental milestones. He says single words now. He says some 2 words phrases but that is about it. He had physical therapy and now receives speech therapy.ThanksMaureenCharlotte NC

[Guest guest]

Thank you for your input. My son doesn't hop either. He really tries though. The speech therapist said he is about 6 months behind in speech. She wanted to have him evaluated by an OT too. Luckily doesn't have the heart defect, cleft palate or thyroid problem. My hope is that he eventually catches up. I guess time will tell.

blepharophimosis Re: benjamin

Dear Maureen My name is and I have a 4 yr old daughter, Kirsten, who has BPES. She is the only one in the family with the condition. The reason I am responding to your message is that Kirsten was born with a "hole in her heart" or a VSD, mild hypotonia and has a speech problem. She has normal intelligence and reached her milestones as expected. It took 2 years, a number of speech therapists, 2 ENT surgeons and 1 cleft palate specialist to finally diagnose why she had a problem speaking. She has a floppy soft palate, otherwise known as velo-phayngeal insufficiency which results in her being unable to pronounce words clearly. I am pleased to say that surgery to her palate has yeilded good results.Most of the doctors were trying to find a connection with BPES. She has had genetic testing done and it shows a complete deletion of FOXL2, which basically confirms BPES but doesn't offer more info than that. I e-mailed Dr Oley, whom Shireen quotes occasionally, to ask her opinion on whether there is a link between BPES and velo-pharyngeal insufficiency and she said there is no link. Kirsten is unfortunate to have more than 1 independent problem.We started using Makaton sign language with Kirsten when she was 21 months old. We wanted to avoid as much frustration in communication especially during the "terrible 2's". It was fabulous and we still use it for the odd time she wants to get her point across, otherwise for now she prefers to speak. Learning sign language was fun and easy and I can highly recommend it.Her hypotonia is more obvious when she is running, (she will never win a 100m sprint!), and now she is 4 yrs old she is just managing to stand on 1 leg but can't hop very well. Her gross motor skills are probably 6 months behind at the moment.I find I have to keep pushing the various medical therapists or doctors to ensure Kirsten gets the treatment I am happy with. I feel that as a parent, we have to do the insisting because nobody else will. Don't be embarrassed to be demanding and continue till you are satisfied.Kirsten is otherwise a typical 4 yr old, goes to the same school as her older brother, has loads of friends and joins in with all that they do, including ballet and swimming.Good luck. ParsonsHarrogate, UK>> My son turned 2 in August. He has gone to two genetic doctors who > diagnosed him with BPES. The ophthalmologist does not see it as > a "classic case" and thinks he may have some form of BPES.> > Do you guys see other symptoms/syndromes associated with BPES and your > children? Mental retardation? Developmental delays? My son walked > at 18 months. He was late hitting most developmental milestones. He > says single words now. He says some 2 words phrases but that is about > it. He had physical therapy and now receives speech therapy.> > Thanks> > Maureen> Charlotte NC>

[Guest guest]

Hi Maureen,

Been catching up on the site and I'm glad you told us about your

lovely little boy. I'd like to tell you about my daughter Abbie

which I hope you find helpful. Sorry, I've realised this e-mail is

about a mile long! Abbie is 15 months old now and her birthday is

also in August. What date is 's? Abbie has BPES and some

other problems too which I'll tell you about in a minute but I can

understand your worries.

Abbie seems to be on time with some things but she has delays in

others. She won't sit but she can stand up! She isn't walking

yet. She didn't have any interest in toys at all until about two

months ago but has suddenly caught on! She is also tiny for her age

and she has a kidney defect, plus hypertonia (stiffness). She is

easy-going and very sociable. All her problems are caused by

a " microdeletion " (see below).

For most people with BPES, the genetic problem is a tiny problem

within a single gene (FoxL2). Because only one gene is affected,

most people with BPES have normal intelligence and no other problems

than the eye condition (with the exception of some fertility issues

which is a whole other story that I won't get into!) However, for

some people (including Abbie) with BPES the genetic problem is

bigger and deletes not just one gene but others surrounding it.

These people have BPES because FoxL2 is lost but they also have

other problems as well. Unfortunately the problems are not

predictable because the points where the DNA is broken are always

different. This means each person will have a different set of

problems depending on which other genes have been lost. All that

being said, I don't think that it sounds like this is the condition

has because I think on your other post you said the

genetics analysis came back negative and it's an easy genetic test

to see it. Then again I suppose it's possible that your genetics

doctors did not do that particular test.

I've just a couple of queries about which I hope you don't

mind me bringing up. First of all, I do know that for some people

with BPES the diagnosis is made on clinical examination only and the

genetic test is negative because the genetic problem, although

there, is so tiny it can't be seen. I think it's a really good idea

to pursue getting the test done in Belgium.

I know of some children with BPES who also have other problems and

the doctors say that it is just co-incidence and that it is two

unrelated issues. The other thing though is with you saying the

opthalmologist didn't think it was a classic case, did you know that

there are lots of other genetic conditions that can cause similar

eyelid problems to BPES (especially the ptosis bit - which is the

eyelid droop) and they often have other features. Are you going to

see the geneticist again? Maybe it's worth asking them if there is

a possibility that has a different condition. You could

also ask them if they did a " Fish " test for . This is the

test that the geneticist used to see the microdeletion Abbie has.

Anyway, it doesn't matter what has caused 's condition, the

important thing is how he is and how you manage with it. I have

found everyone on this site is so supportive and it has really

helped me increase confidence with Abbie, so I hope you know we're

all here to support you!

Anyway, I know that's a lot to understand so I hope it helps you.

If I can explain anything a bit better please let me know and I'll

try my best.

Leah and Abbie

UK

--- In blepharophimosis , " maureenwnc " <jcp@...>

wrote:

>

> My son turned 2 in August. He has gone to two genetic doctors who

> diagnosed him with BPES. The ophthalmologist does not see it as

> a " classic case " and thinks he may have some form of BPES.

>

> Do you guys see other symptoms/syndromes associated with BPES and

your

> children? Mental retardation? Developmental delays? My son

walked

> at 18 months. He was late hitting most developmental milestones.

He

> says single words now. He says some 2 words phrases but that is

about

> it. He had physical therapy and now receives speech therapy.

>

> Thanks

>

> Maureen

> Charlotte NC

>

[Guest guest]

Hello!

just turned 2 in August. He walked at 18 months. He now receives speech therapy 45 minutes per week.

I am not sure about getting the test done in Belgium because even if the FOXL2 is deleted it wouldn't tell me about other issues his has in addition to the BPES eye condition. He did have the FISH test ordered by a neurologist. It was normal.

The genetic doctor said if he does have problems other than the eye condition it is coincidence. I was not convinced of this so I got a second opinion from another genetic doctor at Duke University. She also made the BPES diagnosis. If he does have another condition it is extremely rare because no one knows what it is. When I read things on the internet some other conditions that sometimes go hand in hand with BP are mental retardation, cleft palate, heart problems etc. also has a flat head in the back and the Simian crease (single crease) on one hand. We are going to the genetic doctor again in March.

The ophthalmologist said did not have the epicanthus inversus condition. He said it could be a form of BPES.

I guess even if I did find out exactly what condition has it would not change anything. I am trying to do everything I can to keep him from falling too far behind. He makes progress everyday...which is great. The pediatrician said that it is important to keep progressing and not stay the same or go backward. He sure is a special little boy.

Thank you for your support and information.

Maureen

blepharophimosis Re: benjamin

Hi Maureen,Been catching up on the site and I'm glad you told us about your lovely little boy. I'd like to tell you about my daughter Abbie which I hope you find helpful. Sorry, I've realised this e-mail is about a mile long! Abbie is 15 months old now and her birthday is also in August. What date is 's? Abbie has BPES and some other problems too which I'll tell you about in a minute but I can understand your worries. Abbie seems to be on time with some things but she has delays in others. She won't sit but she can stand up! She isn't walking yet. She didn't have any interest in toys at all until about two months ago but has suddenly caught on! She is also tiny for her age and she has a kidney defect, plus hypertonia (stiffness). She is easy-going and very sociable. All her problems are caused by a "microdeletion" (see below).For most people with BPES, the genetic problem is a tiny problem within a single gene (FoxL2). Because only one gene is affected, most people with BPES have normal intelligence and no other problems than the eye condition (with the exception of some fertility issues which is a whole other story that I won't get into!) However, for some people (including Abbie) with BPES the genetic problem is bigger and deletes not just one gene but others surrounding it. These people have BPES because FoxL2 is lost but they also have other problems as well. Unfortunately the problems are not predictable because the points where the DNA is broken are always different. This means each person will have a different set of problems depending on which other genes have been lost. All that being said, I don't think that it sounds like this is the condition has because I think on your other post you said the genetics analysis came back negative and it's an easy genetic test to see it. Then again I suppose it's possible that your genetics doctors did not do that particular test.I've just a couple of queries about which I hope you don't mind me bringing up. First of all, I do know that for some people with BPES the diagnosis is made on clinical examination only and the genetic test is negative because the genetic problem, although there, is so tiny it can't be seen. I think it's a really good idea to pursue getting the test done in Belgium. I know of some children with BPES who also have other problems and the doctors say that it is just co-incidence and that it is two unrelated issues. The other thing though is with you saying the opthalmologist didn't think it was a classic case, did you know that there are lots of other genetic conditions that can cause similar eyelid problems to BPES (especially the ptosis bit - which is the eyelid droop) and they often have other features. Are you going to see the geneticist again? Maybe it's worth asking them if there is a possibility that has a different condition. You could also ask them if they did a "Fish" test for . This is the test that the geneticist used to see the microdeletion Abbie has.Anyway, it doesn't matter what has caused 's condition, the important thing is how he is and how you manage with it. I have found everyone on this site is so supportive and it has really helped me increase confidence with Abbie, so I hope you know we're all here to support you!Anyway, I know that's a lot to understand so I hope it helps you. If I can explain anything a bit better please let me know and I'll try my best.Leah and AbbieUK>> My son turned 2 in August. He has gone to two genetic doctors who > diagnosed him with BPES. The ophthalmologist does not see it as > a "classic case" and thinks he may have some form of BPES.> > Do you guys see other symptoms/syndromes associated with BPES and your > children? Mental retardation? Developmental delays? My son walked > at 18 months. He was late hitting most developmental milestones. He > says single words now. He says some 2 words phrases but that is about > it. He had physical therapy and now receives speech therapy.> > Thanks> > Maureen> Charlotte NC>