Given that the most common symptoms are multiple, benign skin lesions, lung (pulmonary) cysts, increased risk of repeated collapsed lungs (pneumothorax) and kidney (renal) neoplasia (malignant and benign tumors), I added this discussion to the Lung Health group and the Skin Health group as well.
DC, what symptoms are you dealing with? Any treatments at the moment?
Hello Colleen, I'm not surprised you hadn't heard about BHD. I was diagnosed at Mayo Rochester Genetic Department 6 years ago and only about 5% of medical professionals I dealt with knew about it. It is a genetic disease. We assume it came from my mother who had a pneumonthorax at age 40. My daughter and grandson have tested positive for it as well. The symptoms are many and the list is growing according to the foundation I am following. For me, the lung cysts and damage from pneumothoraces has caused the most damage and I am being treated for that. I also have tests monitoring kidney cysts; no problem so far. My first pneumothorax was over 30 years ago, however, I didn't have many issues until about 15 years ago. I visit Mayo Minn yearly. I do take meds to control my lung symptoms. My most recent issue is finding pseudomonas in sinuses and lungs. This has been the most challenging issue I have had so far. Thank you for your interest. I will follow the discussion. Donna
Hello Colleen, I'm not surprised you hadn't heard about BHD. I was diagnosed at Mayo Rochester Genetic Department 6 years ago and only about 5% of medical professionals I dealt with knew about it. It is a genetic disease. We assume it came from my mother who had a pneumonthorax at age 40. My daughter and grandson have tested positive for it as well. The symptoms are many and the list is growing according to the foundation I am following. For me, the lung cysts and damage from pneumothoraces has caused the most damage and I am being treated for that. I also have tests monitoring kidney cysts; no problem so far. My first pneumothorax was over 30 years ago, however, I didn't have many issues until about 15 years ago. I visit Mayo Minn yearly. I do take meds to control my lung symptoms. My most recent issue is finding pseudomonas in sinuses and lungs. This has been the most challenging issue I have had so far. Thank you for your interest. I will follow the discussion. Donna
Thank you for the education, Donna. With such a rare condition, I'm sure you're used to having to educate others about BHD. When the next member seeks support for newly diagnosed BHD, I'm glad you'll be here to guide them.
I'm sorry to hear that the pseudomonas are your most challenging issue right now. While perhaps not related to BHD, there are several members here who have dealt with or are dealing with pseudomonas. Here are a few discussions that I think you may have something to give and get. 🙂
Thank you for the education, Donna. With such a rare condition, I'm sure you're used to having to educate others about BHD. When the next member seeks support for newly diagnosed BHD, I'm glad you'll be here to guide them.
I'm sorry to hear that the pseudomonas are your most challenging issue right now. While perhaps not related to BHD, there are several members here who have dealt with or are dealing with pseudomonas. Here are a few discussions that I think you may have something to give and get. 🙂
Thank you Colleen. I believe you are correct in saying BHD is perhaps not related to psuedomonas, but I think effects of BHD caused weakness and other issues to make the lungs perfect hosts for pneumonia/bacterial infections. Thanks for the suggestions. I will check out those discussions. Its nice to have this venue to learn. Thanks for doing that. Stay healthy!
Great idea to occassionally bump this discussion back to the top, Donna, so that any new members with BHD will know you're here and willing to connect.
Mayo Clinic labs does Birt-Hogg-Dube Syndrome, FLCN, Full Gene Analysis (https://www.mayocliniclabs.com/test-catalog/overview/614584). Is your husband a patient at a comprehensive cancer center like Mayo Clinic? Is there a family history of BHD?
Mayo Clinic labs does Birt-Hogg-Dube Syndrome, FLCN, Full Gene Analysis (https://www.mayocliniclabs.com/test-catalog/overview/614584). Is your husband a patient at a comprehensive cancer center like Mayo Clinic? Is there a family history of BHD?
Yes my husband’s mother had cancer at 23 of the colon and recently thyroid cancer and wad no family history prior to her at 23. His dad died of cancer at 58.He has had 16 collapsed lungs and 4 lung surgeries. He saw a ER pulmonologist with his previous chest tube and surgery last month and hr immediately noticed my husband’s skin issue and asked him if he had ever been tested . The tried to get him while in the hospital with no luck.
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@dc1950, I had not heard of Birt-Hogg-Dubé (BHD) syndrome. So I looked it up on the National Organization of Rare Diseases website https://rarediseases.org/rare-diseases/birt-hogg-dube-syndrome/
Given that the most common symptoms are multiple, benign skin lesions, lung (pulmonary) cysts, increased risk of repeated collapsed lungs (pneumothorax) and kidney (renal) neoplasia (malignant and benign tumors), I added this discussion to the Lung Health group and the Skin Health group as well.
DC, what symptoms are you dealing with? Any treatments at the moment?
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1 ReactionHello Colleen, I'm not surprised you hadn't heard about BHD. I was diagnosed at Mayo Rochester Genetic Department 6 years ago and only about 5% of medical professionals I dealt with knew about it. It is a genetic disease. We assume it came from my mother who had a pneumonthorax at age 40. My daughter and grandson have tested positive for it as well. The symptoms are many and the list is growing according to the foundation I am following. For me, the lung cysts and damage from pneumothoraces has caused the most damage and I am being treated for that. I also have tests monitoring kidney cysts; no problem so far. My first pneumothorax was over 30 years ago, however, I didn't have many issues until about 15 years ago. I visit Mayo Minn yearly. I do take meds to control my lung symptoms. My most recent issue is finding pseudomonas in sinuses and lungs. This has been the most challenging issue I have had so far. Thank you for your interest. I will follow the discussion. Donna
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1 ReactionThank you for the education, Donna. With such a rare condition, I'm sure you're used to having to educate others about BHD. When the next member seeks support for newly diagnosed BHD, I'm glad you'll be here to guide them.
I'm sorry to hear that the pseudomonas are your most challenging issue right now. While perhaps not related to BHD, there are several members here who have dealt with or are dealing with pseudomonas. Here are a few discussions that I think you may have something to give and get. 🙂
- Does anyone have a recommendation for a Mayo Doctor for Psuedomonas? https://connect.mayoclinic.org/discussion/mayo-doctor-for-psuedomonas/
- Should my pseudomonas be treated? https://connect.mayoclinic.org/discussion/should-my-pseudomonas-be-treated/
Thank you Colleen. I believe you are correct in saying BHD is perhaps not related to psuedomonas, but I think effects of BHD caused weakness and other issues to make the lungs perfect hosts for pneumonia/bacterial infections. Thanks for the suggestions. I will check out those discussions. Its nice to have this venue to learn. Thanks for doing that. Stay healthy!
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3 ReactionsI post this from time to time, wondering if there are any suffering from BHD Lung Disease? Thank you.
Great idea to occassionally bump this discussion back to the top, Donna, so that any new members with BHD will know you're here and willing to connect.
How are you doing today?
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2 Reactions@islandfantasy21, I'd like to bring you into this discussion with @dc1950, who also has Birt-Hogg-Dubé syndrome (BHD).
I need to know where I can take my husband to be tested for Brit hogg syndrome?
Welcome, @michavril. @dc1950 can share her experience with testing.
Mayo Clinic labs does Birt-Hogg-Dube Syndrome, FLCN, Full Gene Analysis (https://www.mayocliniclabs.com/test-catalog/overview/614584). Is your husband a patient at a comprehensive cancer center like Mayo Clinic? Is there a family history of BHD?
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Like -
Helpful -
Hug
3 ReactionsYes my husband’s mother had cancer at 23 of the colon and recently thyroid cancer and wad no family history prior to her at 23. His dad died of cancer at 58.He has had 16 collapsed lungs and 4 lung surgeries. He saw a ER pulmonologist with his previous chest tube and surgery last month and hr immediately noticed my husband’s skin issue and asked him if he had ever been tested . The tried to get him while in the hospital with no luck.