Re: Re: Ptosis associated with Blepharophimosis

[Guest guest]

Hi Beth-

I am trying to find a physician in our area but we are willing to travel if you know of a good physician. The Children's Hospital here has been no help at all. My son is 9 months old and from the moment of his birth we were immediately aware that something was wrong with his left eye. After a few frustrating months they finally diagnosed him with Ptosis. He had surgery for that in February (@ 5mths.), but we knew there was still something else wrong besides a lazy eye lid. Now we know but were are having no luck here...

Thank you for just answering my e-mail. It helps to know we are not alone.

Any info. you can forward on to us is most appreciated!

Sincerely,

Rae Ann bethgordon03 <bethgordon03@...> wrote:

HiI am originally from Pittsburgh, my dad and I and my baby daughter all have BPES, however, I did not know we had BPES until my daughter was born. I thought we had ptosis, that's all we were told. But we did have epicanthus surgery. It has affected both of our eyes.There is genetic testing for BPES, although I have never had it done.Are you trying to find a different doctor in your area? How old is your son?Beth Gordon> I feel confident that my son is effected by this condition. He had the > sling surgery for the affected eyelid. However, his eye socket is > obviously smaller. I live in Cincinnati, Ohio and cannot find anyone > here that can help me. Any advice would be

appreciated!> > Thank you,> > Rae Ann

[Guest guest]

Rae Ann,

I live in Cincinnati too. We haven't dealt with Children's Hospital at all for our 2 boys. Their pediatric ophthalmologist used to be Dr. Burke who's office is in Montgomery across the street from Bethesda North Hospital, they now see Dr. West down at Children's. Their surgeon is Dr. Dwight Kulwin at the Cincinnati Eye Institute. He is a very good doctor and has done many of surgeries for ptosis and for blepharophimosis. We have been going to him for almost 12 years now. He doesn't have the best bed side manners, but he's good at what he does. You can email me privately if you want to. Who is your sons eye doctor? Who did his surgery when he was 5 months old?

[Guest guest]

Dr. Constance West and Dr. Kulwin are both who referred to this issue as an "optical illusion". I agree on the bedside manner thing with Kulwin but his work is amazing. You would never know my son had surgery.

I just saw Dr. West in her Fairfield office two weeks ago and she treated me so nasty. I traveled quite a distance to see her and waited for two months to get an appointment just with her and she was a waste of time. I was actually thinking of trying Dr. Burke next. He was my last hope here in Cincinnati.

If I have no luck here I will be traveling to Pittsburgh Children's. They are Cincinnati Children's biggest competition and they would love to give CCHMC a run for their money. To make it worse, my husband works for them, you'd think we could get even better help than most but not the case.

I look forward to talking with soon.

Rae Ann Feichtner <mfeichtner@...> wrote:

Rae Ann,

I live in Cincinnati too. We haven't dealt with Children's Hospital at all for our 2 boys. Their pediatric ophthalmologist used to be Dr. Burke who's office is in Montgomery across the street from Bethesda North Hospital, they now see Dr. West down at Children's. Their surgeon is Dr. Dwight Kulwin at the Cincinnati Eye Institute. He is a very good doctor and has done many of surgeries for ptosis and for blepharophimosis. We have been going to him for almost 12 years now. He doesn't have the best bed side manners, but he's good at what he does. You can email me privately if you want to. Who is your sons eye doctor? Who did his surgery when he was 5 months old?

[Guest guest]

Dear Rae Ann,

You are in my prayers. We live in Alabama and will be traveling to St. Louis to see Dr. Rick with Kenley. No one has been any help in Alabama.

LancasterRae Ann <randigyrlpi@...> wrote:

Hi Beth-

I am trying to find a physician in our area but we are willing to travel if you know of a good physician. The Children's Hospital here has been no help at all. My son is 9 months old and from the moment of his birth we were immediately aware that something was wrong with his left eye. After a few frustrating months they finally diagnosed him with Ptosis. He had surgery for that in February (@ 5mths.), but we knew there was still something else wrong besides a lazy eye lid. Now we know but were are having no luck here...

Thank you for just answering my e-mail. It helps to know we are not alone.

Any info. you can forward on to us is most appreciated!

Sincerely,

Rae Ann bethgordon03 <bethgordon03@...> wrote:

HiI am originally from Pittsburgh, my dad and I and my baby daughter all have BPES, however, I did not know we had BPES until my daughter was born. I thought we had ptosis, that's all we were told. But we did have epicanthus surgery. It has affected both of our eyes.There is genetic testing for BPES, although I have never had it done.Are you trying to find a different doctor in your area? How old is your son?Beth Gordon> I feel confident that my son is effected by this condition. He had the > sling surgery for the affected eyelid. However, his eye socket is > obviously smaller. I live in Cincinnati, Ohio and cannot find anyone > here that can help me. Any advice would be

appreciated!> > Thank you,> > Rae Ann

[Guest guest]

Thank you! I did get a reply from the only place I can find that will do the testing, please see below:

Dear Mrs. ,thank you for contacting us. We offer clinical testing for BPES (FOXL2analysis). In the US there is no laboratory offering clinical testing for thiscondition.For FOXL2 mutation analysis we would need:-a high-quality DNA sample of the index patient and if possible DNA of(un)affected family members (parents).Alternatively, you can send us-fresh EDTA blood (5-10 cc or less for small children) that should arrive in thelab on room temperature.We offer clinical testing which costs 400 EUR for the analysis of the indexpatient, and 250 EUR for targeted mutation analysis of a known mutation infamily members. Payment is possible by international check.The turnover time of the first step of the analysis (sequencing of FOXL2, MLPA)is about 15 weeks. If no mutation is found through the first step, theanalysis is extended (microsatellite analysis, arrayCGH), but this second stepmay take

longer. The detection ratio using the current techniques is more than80%, for familial as well as for sporadic cases.There recently appeared a GeneReviews on blepharophimosis syndrome(http://www.geneclinics.org/).We would also kindly ask if you could complete a clinical checklist for yourpatient/family (see attachment). In addition to the completed clinicalchecklist, we would also ask if you could send a picture (digital or other) ofthe patient(s) if possible, in order to better document our patient database.As attached files you will find our consent form for mutation analysis in FOXL2and an information form for the family.If we would find a mutation in your family and if you'd agree that we includethese data in future publications, the referring clinician will be a co-author.If you would send samples to our lab, please contact us before sending

them(contact address: see below).I hope to help you with this information.Sincerely yours,Elfride De Baere-----------------------------------------------------------------Elfride De Baere, MD, PhDCenter for Medical GeneticsGhent University HospitalDe Pintelaan 185B-9000 GhentBelgiumPhone: 0032 9 240 5186 (direct) 0032 9 240 3603 (secretary)Fax: 0032 9 240 4970Email: Elfride.DeBaere@... Lancaster <kenleyejp@...> wrote:

Dear Rae Ann,

You are in my prayers. We live in Alabama and will be traveling to St. Louis to see Dr. Rick with Kenley. No one has been any help in Alabama.

LancasterRae Ann <randigyrlpi@...> wrote:

Hi Beth-

I am trying to find a physician in our area but we are willing to travel if you know of a good physician. The Children's Hospital here has been no help at all. My son is 9 months old and from the moment of his birth we were immediately aware that something was wrong with his left eye. After a few frustrating months they finally diagnosed him with Ptosis. He had surgery for that in February (@ 5mths.), but we knew there was still something else wrong besides a lazy eye lid. Now we know but were are having no luck here...

Thank you for just answering my e-mail. It helps to know we are not alone.

Any info. you can forward on to us is most appreciated!

Sincerely,

Rae Ann bethgordon03 <bethgordon03@...> wrote:

HiI am originally from Pittsburgh, my dad and I and my baby daughter all have BPES, however, I did not know we had BPES until my daughter was born. I thought we had ptosis, that's all we were told. But we did have epicanthus surgery. It has affected both of our eyes.There is genetic testing for BPES, although I have never had it done.Are you trying to find a different doctor in your area? How old is your son?Beth Gordon> I feel confident that my son is effected by this condition. He had the > sling surgery for the affected eyelid. However, his eye socket is > obviously smaller. I live in Cincinnati, Ohio and cannot find anyone > here that can help me. Any advice would be

appreciated!> > Thank you,> > Rae Ann