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1389523 tn?1279831189

HHT Osler Weber

Hi there I was recently Diagnosed with HHT also knows as Osler Weber Rendu I have had genetic testing done and the gene causing my HHT has not yet been found due to not enough research, was tested for HHT1 HHT2 and the SMAD4 ,I was wondering if there was any research being done and If I could possibly donate my blood for research to find these genes to further help my family and to help others! I was told that 40% of us the gene has not been detected yet. I clearly have a clinical Diagnosis of this! Multiple PAVMs Telegictasias and nose bleeds
2 Responses
1227139 tn?1462334630
Hello Perswinn38,  Welcome to MedHelp!

First off I want to say, you should be commended on your determination in looking to find answers.  Secondly for wanting to donate to science for research and being part of the study.

I have to say, I am not sure that you will find the avenue you are looking for here.  Most times the people who are posting here are just like you, looking for answers.  I think, for what you are looking to do, you need to contact several universities, medical departments and even more specifically the scientific research society.  I am not sure how you might go about finding this particular group of scientists, but I would start with your genetics department.  If anyone is going to know how you might go about speaking with people who conduct the research, it would be them.  I know one person here on MH who has a son who has a very rare combination of genetic abnormalities (her condition along with T21) and they (science) has approached her to do studies.  If you like, I can find out exactly what kind of researchers are speaking to her to give you an idea of who you might want to contact.  Her user name here on MH is Martikadragoon, however she has just recovered from a coma and has just returned home from the hospital a couple of days ago.  She will not be on MH for a little bit but I do speak to her.  I will get you the information if you are interested, but beware the group that she was approached by will likely not be the group you will contact.  It will give you an idea of the area in which you could start though, since it is along the same lines as what you would like to do.  (Be available to help them research).  
If you message me directly, I will send you the information as soon as I get it.  

I do think though, that your genetics department who you got your diagnosis from or are trying to get one from would be the people who would put you in contact with researching scientists.

In addition to anything I have mentioned, please keep in mind, that while I or others may have extensive knowledge in many areas, you should always seek professional medical advice from your own physician, as it pertains to medical conditions or concerns.

Good luck, and if you have any other questions that I can help you with, please feel free to message me directly.

Sincerely,
Sandi (Dragon1973)
MedHelp Genetics Community Leader;
Children - Special Needs Community Leader;
Down syndrome Community Leader & Ds Group Forum Founder/Moderator
363110 tn?1340920419
Hi! This is Cindie (also known as Martikadragoon) I felt good enough to get online today and I DID find some info you would be interested in.

it's a foundation for HHT

http://hht.org            

I can try and find you more detailed info but if you contact the foundation directly at
USA 1 800 448 6389

Email, (No spaces... it won't show it here on MH if I don't use spacing):  hhtinfo  @  hht   .org
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