Guest guest Posted March 25, 2004 Report Share Posted March 25, 2004 I agree with Michele...Kent Small's research is vital for understanding BPES....and hopefully he will have answers soon. We do plan on participating in his reasearch project, however, we would like to know if we are carrying a recessive gene that could possibly be passed onto another child as soon as possible. Most likely our daughters case is sporadic but we want to be absolutly sure before we begin trying to have another baby. When we went to the geneticist, our daughters test came back showing no structural abnormality at the chromosome level. So now we are proceeding with DNA testing through the lab in Belgium that provides BPES gene testing on a clinical basis, meaning they will attempt to obtain and complete the testing within several months as opposed to trying to get answers by completeing the testing through Dr. Small's lab on a research basis only. I feel that it is important to participate in Dr. Small's research for future generations and our understanding...but if you want answers in a timely fashion to questions with a time frame...the lab in Belgium may be an additional option.Michele <shell3238@...> wrote: I participated in Kent Small's research last year. When I went to see a genetic specialist ,she E mailed him and set it up. I did not care so much about the results as it was to help future generations with Bpes. I already know I am a type one because of having ovarian failure at 27 years old. All it involves is some questions about family history and some blood work. Well worth my time to be able to help others and put some understanding into this disorder. --- Michele --- shell3238@... --- EarthLink: The #1 provider of the Real Internet. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted March 25, 2004 Report Share Posted March 25, 2004 Hello Debbie......When we went to the geneticist, our daughters test came back showing no structural abnormality at the chromosome level. Please can you tell what the name of these tests were called and who preformed them? Information on the Lab in Belgium is of interest.Can you supply a contact for it? Thank You so much for responding. I appreciate you. sonDebbie Weston From <debweston@...> wrote: I agree with Michele...Kent Small's research is vital for understanding BPES....and hopefully he will have answers soon. We do plan on participating in his reasearch project, however, we would like to know if we are carrying a recessive gene that could possibly be passed onto another child as soon as possible. Most likely our daughters case is sporadic but we want to be absolutly sure before we begin trying to have another baby. When we went to the geneticist, our daughters test came back showing no structural abnormality at the chromosome level. So now we are proceeding with DNA testing through the lab in Belgium that provides BPES gene testing on a clinical basis, meaning they will attempt to obtain and complete the testing within several months as opposed to trying to get answers by completeing the testing through Dr. Small's lab on a research basis only. I feel that it is important to participate in Dr. Small's research for future generations and our understanding...but if you want answers in a timely fashion to questions with a time frame...the lab in Belgium may be an additional option.Michele <shell3238@...> wrote: I participated in Kent Small's research last year. When I went to see a genetic specialist ,she E mailed him and set it up. I did not care so much about the results as it was to help future generations with Bpes. I already know I am a type one because of having ovarian failure at 27 years old. All it involves is some questions about family history and some blood work. Well worth my time to be able to help others and put some understanding into this disorder. --- Michele --- shell3238@... --- EarthLink: The #1 provider of the Real Internet. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted March 26, 2004 Report Share Posted March 26, 2004 Dear , Here is that info: Elfride De Baere, MD, PhD Dept of Medical Genetics Ghent University Hospital 0K5 De Pintelaan 185 B-9000 Ghent Belgium phone: 32-9-240-2478 fax: 32-9-240-4970 The cost is about 400 euros for the analysis of the whole family. The geneticist who performed the first test on our daughter is the one who referred us to the lab in Belgium. Maybe you can ask the geneticist who tested your daughter and ask them if they can get the necessary paperwork together for you. Keep us posted of your findings. Once we hear anything, I will post it as well. Thanks so much and good luck! Debbieanna <annaloretta17692@...> wrote: Hello Debbie......When we went to the geneticist, our daughters test came back showing no structural abnormality at the chromosome level. Please can you tell what the name of these tests were called and who preformed them? Information on the Lab in Belgium is of interest.Can you supply a contact for it? Thank You so much for responding. I appreciate you. sonDebbie Weston From <debweston@...> wrote: I agree with Michele...Kent Small's research is vital for understanding BPES....and hopefully he will have answers soon. We do plan on participating in his reasearch project, however, we would like to know if we are carrying a recessive gene that could possibly be passed onto another child as soon as possible. Most likely our daughters case is sporadic but we want to be absolutly sure before we begin trying to have another baby. When we went to the geneticist, our daughters test came back showing no structural abnormality at the chromosome level. So now we are proceeding with DNA testing through the lab in Belgium that provides BPES gene testing on a clinical basis, meaning they will attempt to obtain and complete the testing within several months as opposed to trying to get answers by completeing the testing through Dr. Small's lab on a research basis only. I feel that it is important to participate in Dr. Small's research for future generations and our understanding...but if you want answers in a timely fashion to questions with a time frame...the lab in Belgium may be an additional option.Michele <shell3238@...> wrote: I participated in Kent Small's research last year. When I went to see a genetic specialist ,she E mailed him and set it up. I did not care so much about the results as it was to help future generations with Bpes. I already know I am a type one because of having ovarian failure at 27 years old. All it involves is some questions about family history and some blood work. Well worth my time to be able to help others and put some understanding into this disorder. --- Michele --- shell3238@... --- EarthLink: The #1 provider of the Real Internet. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted March 27, 2004 Report Share Posted March 27, 2004 Could I have some details of the lab in Belgium, would be interested in being involved in there research also... -- Re: blepharophimosis Kent Small's research I agree with Michele...Kent Small's research is vital for understanding BPES....and hopefully he will have answers soon. We do plan on participating in his reasearch project, however, we would like to know if we are carrying a recessive gene that could possibly be passed onto another child as soon as possible. Most likely our daughters case is sporadic but we want to be absolutly sure before we begin trying to have another baby. When we went to the geneticist, our daughters test came back showing no structural abnormality at the chromosome level. So now we are proceeding with DNA testing through the lab in Belgium that provides BPES gene testing on a clinical basis, meaning they will attempt to obtain and complete the testing within several months as opposed to trying to get answers by completeing the testing through Dr. Small's lab on a research basis only. I feel that it is important to participate in Dr. Small's research for future generations and our understanding...but if you want answers in a timely fashion to questions with a time frame...the lab in Belgium may be an additional option.Michele <shell3238@...> wrote: I participated in Kent Small's research last year. When I went to see a genetic specialist ,she E mailed him and set it up. I did not care so much about the results as it was to help future generations with Bpes. I already know I am a type one because of having ovarian failure at 27 years old. All it involves is some questions about family history and some blood work. Well worth my time to be able to help others and put some understanding into this disorder. --- Michele --- shell3238@... --- EarthLink: The #1 provider of the Real Internet. Quote Link to comment Share on other sites More sharing options...
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