Hello!
I would suggest going to yahoo,and checking the website mentioned earlier by Dr.Kolhause...he is a geneticist that mainly deals with TBS,but he does know sooo much more that I have found so helpful! It doesn't say where you are,so I could also suggest calling North Carolina Memorial Hospital in Chapel Hill,N.C.,and asking for the peds geneticist on call...or you could ask for Dr.Cynthia Powell...she has collaborated with Dr.Kolhuase on a couple of papers on TBS;both are very nice people,don't see their patients as just another file to 'deal' with,ya know? And that is a big plus,having a syndrome that is mind boggling to deal with!!! Good luck in your researching! And many blessings to you!!!!

Hi

Hi everyone! I'm a 27 year old female who was just diagnosed with TBS. Throughout my life I always had "funny" toes and one working kidney. My family was unaware that it was a syndrome. When I became pregnant with my daughter I was high risk for low amniotic fluid. When she was born we noticed that she had my toes!!! Further tests showed that she has micro kidneys (caused the low fluid), a moderate hearing loss (tubes being placed in a few days), a tethered spinal cord, a syrinx in the spine and partial anomally pulmonary venus return, and a heart murmur. Our geneticist is Dr. Keith Vaux. He was at Naval Medical Center at San Diego but now works at Kaiser in San Diego. He has 11 patients with TBS and there are 65 worlwide. What he told us was that it has to do with the 16qSALL1 chromosome (on the long arm of the chromosome). I have lived a totally normal life. I am about to finish college, I am married and have a beautiful baby girl. She does have some challenges ahead with two back surgeries and she is in level three renal failure but her kidney function has improved a lot!!! From what I understand TBS symptoms vary from one case to the next. I am glad we were at a great hospital when she was born so all of her problems were caught very early. I am so happy yo have found this website. It is imporatnt to beable to talk to others when you are experiencing the same things. I will let you know if my daughters hearing improves with the tube implants. Good luck to you all!!!!

Chrissa
Thank you for all the wonderful information! The more we all learn, the more love and healing we can offer to this syndrome.

Offering healing on the quantum level for ((((((((((((Chrissa and baby girl)))))))))

Hello,Chrissa! I would like to invite you to go on yahoo,and find our group there on Townes-Brocks syndrome.You mentioned that your geneticist says there are 65 cases worldwide(at least I think that is what I read.)In learning more about TBSers,I have since found over 300 worldwide cases of TBS...many are undiagnosed due to doctors not knowing,and some not wanting to take time to know and understand this unique syndrome...yes,there are many levels of 'challenges' with this syndrome;one that we have recently had verification on by Dr. Kohlhause(I might have misspelled his name)is vision loss...congratualations on your beautiful baby girl,and a big welcome to QT,and when you get to the TBS group on yahoo,an even bigger welcome there!!!!-Amy

Hey Odd one. My son is 9months and actually I've gotten some info from gentics at Children's in Denver. It's Chromosone 16 that's effected and your vision is effected by Townes-Brock from what I've been told. does this help.

Yes,it does affect vision,but only a small number of us TBSers are bothered by vision difficulties...the group over in yahoo has helped me discover lots more information about this syndrome...and the moderator is very helpful in finding things if we do not know where to look,or understand what exactly we are looking for...thank you....

Hello all... I'm new to this site, and feel like I've landed in a well being place to be secured and safe to say that I have a 2 1/2 yr old son, who is diagnosed with Townes Brock Syndrome. I also have the syndrome... I've been looking for information on what it is. I'm 27 and have no clue... Both my son and I have had perforated anus, ear tags, lazy eye in our right, heart murmurs, and loss of hearing... only my son has a way worse condition than I do cause he was born with an extra thumb and is missing 3 of his toes... Please if anyone has any info on where to look up this syndrome send it my way at psychokjg@yahoo.com Thanks

Dear BigDaddy! Welcome!!! If you will go to yahoo groups;search Townes-Brocks,you will come across a group co-run by a wonderful woman,and a Dr.in Germany,who is a leading researcher on this exact syndrome!
Blessings in abundance to you and your little man...(((((((((((((((((((BigDaddy,and little man))))))))))))))))))))).
My name is Amy,and I,too,suffer from TBS.I have a very mild form,although my health has deterioated greatly in the last few years....it is not easy finding a doctor who can correctly diagnose this syndrome,is it? Good luck to you and yours!!!

Superstarr thanks for the info even though there wasn't much info that I could retrieve. Although if there is more than 1 website please send em my way... I just find this strange to learn that out of 5 children of my parents had, I was the only one diagnosed and my son has the case worse than I do. I want to know why didn't it skip him like it should have. My grandfather (on my father's side) carried the gene and so did my father. But neither one of them had the syndrome. Now I have it and passed it to my son. It scares me to death of what's going to happen next. Any info is greatly appreciated. Thanks

Hey BigDaddy!
I am sorry;it is a private group.Once you join,and it has been 'verified' you are for 'real',you will be able to go thru the files and all the information that Dr.Kolhause and the moderator of the group have amassed(not sure this is correct word).It is a wonderful group,and they are all a wonderful bunch of TBSers...they offer support,help in figuring out what is next,helping you figure out how to help ur lil man,what to expect,what can be done,etc. Please go back to the group and ask to join,as I promise,you will not regret it!(Blessings to you and lil man,in abundance!!!)))

We just discovered with our daughter that she has small optical nerves, then we found out that mine are too!!! however i can see just fine at this point. The tube implants did help with our daughter's hearing and her kidney function is stablizing. in response to big daddy i'm the only one in my family that has the syndrome. it does not skip generations and it is possible to be the first to have it. it can randomly pop up. my daughters case is worse then mine and if she has children they will be worse then her. it is scary but you're not alone!!!!

hiya there, i was wondering if someone could help me, my boyfriend's brother has towns brock he is the only one in his family that does my boyfriend ust to get checked every 6months but doesn't have to anymore. i am pregnant i was wondering if you know if it is possible my baby will have it even tho the father doesnt or is it just heditory (sorry not good at spellin) would really appreciate it if anyone could get back to me. cheers

Hazel - I don't know a lot about the syndrome - just what is posted here. I would suggest that you post a request in the healing forum for the best outcome for your pregnancy and baby.

Hello,Hazel! I am a 44yr.old woman who was diagnosed TBS in my teens...it is possible your baby can have it,even if the father does not...have you ever been tested? Your boyfriend may not have it,yet may carry the affected gene for TBS syndrome...I have never while growing up,been that overly affected by the syndrome;it is only as I have gotten older that my health is starting to deterioate from TBS...at the same time,do not overly worry;it is possible that your baby will be absolutely perfect irregardless! Go over to yahoo,search groups,send a message to the group moderator of TBS,and you can ask her,or she can ask the doctor that oversees the group what you should be worried about...in the meantime,get yourself tested,if financially possible,make contact with a geneticistic at least. Some are willing to test you for free.Try not to worry(although I for sure know how hard that is!)You will be in my thoughts and prayers as your pregnancy progresses! ((((((((((Hazel,Hazel's baby,and Hazel's boyfriend,and brother)))))You may pm me if you have any other questions;my given name is Amy....