We need to raise awareness of BHD – A Personal Cancer Story

Please note this story contains a personal experience of loss. Remember that everyone has a different story and experience of Birt-Hogg-Dubé syndrome and that no two people have the same journey.

Vicki shares the story of her late husband, Jon, who was diagnosed with Birt-Hogg-Dubé syndrome (BHD) after his kidney cancer diagnosis. She shares his story and why raising awareness of BHD is so important among doctors.

Please tell me about your husband and the events that led to him being diagnosed with kidney cancer and BHD?

My late husband, Jon Cooper, was not fortunate enough to have the information that we now have that could have helped save his life as he did not get diagnosed with BHD when finding out he developed a rare type of kidney cancer. Instead, the doctors just “assumed” that he developed kidney cancer because he was once a cigarette smoker. They removed his kidney and told us he was cancer free, and it hadn’t gone to the lymph nodes so no future treatment was necessary and to come back in 6 months.

In not being totally comfortable with just thinking this was all behind us and knowing he had kidney cancer, he and I decided that we needed to be more proactive and make sure that there wasn’t any other areas of his body that had cancer. We then scheduled his colonoscopy, where many precancerous cells were removed. Then we went to the dermatologist for a complete exam. When the doctor discovered he had fibrofolliculomas on the underside of his arm and reviewed his recent kidney cancer history, she immediately felt that he was a candidate for having BHD and requested genetic counselling. We then received the diagnosis and then became very proactive in seeking out the continuous care that he then needed. Because of knowing he still had the possibility of the cancer reappearing in his remaining kidney, the doctors then became more diligent in helping us care for him with 3 month follow-ups, MRIs, and lung x-rays. In doing so, we were able to discover when the kidney cancer then travelled to his lungs, and he was then diagnosed with very early stages of 4th stage kidney cancer that had spread to his lungs.

What management/treatment did he have for his kidney cancer and BHD?

He then went through radiation, chemotherapy and towards the end, immunotherapy. He was able to continue the fight for 2 ½ years. He passed away right before Covid in November of 2019 from kidney failure, heart failure and cancer.

Why is awareness of BHD among doctors important?

The fact that doctors immediately assume that you develop cancer because of a bad lifestyle is not always the case and wasn’t for Jon. Doctors and health professionals need to be trained to look for this skin/lung/kidney combination so that proper follow-up care can be given and awareness and knowledge about genetic syndromes can be discussed with the family. The family needs to know so they can obtain genetic testing and can be properly monitored throughout their lives so that they can live cancer-free and not have to die from this syndrome. In our case, our daughter did inherit the syndrome and so has one of her three children. We had my grandson tested when he was only 4 years old and feel we did the right thing as now we know to have his kidneys be monitored yearly when he turns 20. We also felt like it is an advantage of knowing this as it is possible in his lifetime, that he may have the opportunity to have gene therapy and keep future generations of my family from having BHD in the future.

What advice would you give to other family members of people with BHD?

My advice to other families who have BHD is to be a voice…be out there and tell every health professional that you encounter about the syndrome and educate THEM! Show the skin lesions to your nurses and other care providers. You will find that very few know anything about it. That is the part that is frustrating as I do feel like this is a very undiagnosed syndrome. I fear that doctors will continue to blame cigarettes for health problems and not look at other reasons.

My other advice is to have everyone tested no matter the age and do the yearly recommended follow-ups*. If my husband would have known he had the tumours growing on his kidneys when they began in his 30’s, they could have zapped them off and kept the cancer from growing and causing him to lose the kidney and spreading to his lungs. He would still be here today if he had that knowledge.

We would like to thank Vicki for sharing her husband’s story. Early diagnosis of BHD is so important to ensure that people get their kidneys monitored regularly for any signs of cancer. Kidney cancer in BHD is normally slow growing so close monitoring and, when necessary, surgery reduces the risk of it growing to a size where it is at risk of spreading. Most people with BHD will not develop advanced kidney cancer. However, raising awareness of BHD and having regular monitoring of kidney’s reduces this chance even further.

BHD is genetic. This means if you have BHD, it is likely other family members also have BHD. There is also a 1 in 2 chance that each of your children will have BHD. It is recommended that family members of people with BHD are tested and if positive have kidney cancer screening. If you have been diagnosed with BHD and have concerns of talking about it within your family, we have resources that can help. Read the BHD Family resources here. A genetic counsellor can also help with this.

If you have been affected by any of the information in this story, please let us know by email.

 *Recommendations for genetic testing and management of BHD vary between countries. Please speak to your doctors to find what is recommended in your area.

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