why do we have to do the doctors work for them?just found out am losing sight,and it IS related to Townes-Brocks syndrome.....am scared now....

My son has Townes-Brock Syndrome and does have blindness in one eye as well as the minor hearing loss, perforated anus, hypospadios, poly cystic kidney disease. He's managing well and is on the transplant list for a kidney. Dr. Kohlhase in Germany is conducting studies on us to do more research on the Syndrome. It's good to read about other people going through this same thing. Best of luck to you all.

Hi, my name is Rodney, I am 19 years old and have townes brock syndrome. When I was born I had only one functional kidney, a hole in the upper portion of my heart, complete loss of hearing in my right ear and a partial hearing loss in my left, I had no anal opening, abnormalities of my right hand, and slight differences in me asemitry. Now due to surgeries I have an almost normal anal and right hand. God fixed my heart. The rest I still live with. I lead a pretty normal life. I am attending college and have a beautiful girlfriend. I will most likely adopt any children I have because of the syndrome. But that's okay. This syndrome is not the end of the world it's merely a test of faith!

hello,Rodfreak,and pattie....you are not a freak,just somewhat different!!!wow,i can't believe the doctors and genetesist(sp?) can't figure something out for us..and i can't believe if has taken me almost 20yrs. to find out if this syndrome does affect sight!!! hello from a fellow sufferer!

Hi

Hi,
Like you I have a son who was born with Townes-Brock syndrome. he was diagnosed at birth because of his imperfrated anus and extra digit on his left hand. There is not much I can tell you about the syndrome except that it is a SALL 1 gene mutation and comes from one of the parents. We had our sons DNA tested and sent to Germany to be tested for the SALL 1 gene. This was done because the symptoms can sometimes be mistaken for a defect with the cromosone 5. For instance, if it happened to be the cromosone 5 defect the likelyhood of this occuring with other children is only 2% whereas if its the SALL 1 gene its a 50% chance of it occuring again with other children. This DNA test was taken by McMaster University in Hamilton, Ontario Canada. It happens to be very expensive. I spoke to a Dr. and asked about having children without this gene and it is possible, but only with artifical insemination. The parent who carries the gene eggs or sperm would be tested. Hopefully some ofthis info. helped and fell free to contact me if there is anything I can do.

hello,again to doris in n.c.! i am trying to find out information about this syndrome for myself. i am currently trying to get services from vocational rehabilitation,but they want to know exactly what this syndrome is....well,i am trying to get in touch with doctors at unc here in chapel hill,that might be able to help me,as vr wants a comprehensive exam by a doctor that knows what exactly Townes-Brocks syndrome is....different manifestations of this syndrome have occured in me,and therefore,i am trying to find a doctor that will not go off on a tangent when they see my hands,feet,listen to my heart,and see my ears.many doctors get side-tracked and want to use me as guinea pig...i just want someone who won't decide to 'put me in a proverbial cage',and take me out to do tests on me.thank you all for your time,and patience.

i am confused as to why there have been no more replies to anything on this forum(thread,whatever we are to call it...) i am fast approaching my appt.with geneticist,and am getting rather anxious....i got ahold of a doctor here at unc,in chapel hill,n.c.....Dr. Koepke....was wondering if maybe Doris has heard of him,and whether or not he is a doctor that may get sidetracked? have you heard of him? can u recommend any other doctors at unc? thank you for your time.....oddone

It could simply be that noone has an answer for you...

I wish you luck in your search for information.

thanks,quantum jedi....yeah,i figured that one out....all of a sudden,it is almost as if Townes-Brocks sufferers fell off the face of the earth....lol....oh,well,on to different pursuits,huh?

Hi Starr's mom,

I think the reason why you are all not getting replies on this forum is that the "tread" was filed under an Admin site called "Questions on using the Message board" and not under "Requests for healings" The Requests for Healings are read all the time and lots of Distance healings are sent - but the Admin Forum is only used to ask questions about how to get on the site etc. I just stumbled onto this part of the forum out of curiosity about Admin questions -- And I think it is AWESOME that so many people suffering from such a rare disease have clustered together and seem to be in a "waiting room" just waiting to go into the "healing room"

I am not a qualified Quantum Healer myself though I believe in it absolutely but when all of you receive the awesome power of the healers here something great will happen (((( love ))))

Sending all my love and hope to usher you into the Healing Room "REquests for Healing"

Love Gen

This message has been edited. Last edited by: geeneos,

wow,thanks for your reply! i was not really 'concerned' for healing,although,that would be nice...i was really trying to get in touch with others who suffer from this 'rare' syndrome to kind of not feel so alone in my trials with everyday life that it brings... Thank you very much for letting me know someone besides quantum jedi does indeed know about this thread in particular! sending love and respect to you(((((((geenos)))))))))))

oh,i forgot to let you know....i am the same person as oddone one...i just changed my screen name to one that i feel more comfortable with since i have gone to a doctor now that specializes in this particular syndrome,and now don't feel quite the 'oddone'.thanks again!

My daughter was diagnosed with towns brocks syndrome. She was born with an anterior displaced anis, ear tags, webbed finger and toes. ear pits. lower set ears and what was to beleave to be coloboma. She is now two and 1/2 years old. she is still not speaking. does anyone know if this has anything to do with this syndrome. and does Towns Brock lead to learning disibilitys? can any one help me Im a very conserned mother..

thanks

also, there is not anyone else in eather one of our family's with this syndrome. Does this mean it can hide out a couple of generations or what. does this mean my daughter may have a child with towns brock? what should I be prepaired for? can anyone help me?


Please!!!!!!!!!!!!! :