Effie's Story - A Surprise Diagnosis

Effie worked as a research nurse (RN) caring for people with BHD. In 2011/2012 she volunteered to take part in a clinical study where they incidentally found that she had BHD.  In this interview, Effie shares her experience of transitioning from carer to patient. She also provides insight into the importance of genetic counsellors.

Please tell us about your time caring for people with BHD?

 I was a RN for the NIH Clinical Centre from 1991- 2022. During 1995-2005, I was an inpatient intensive care unit RN during which I cared for post-op patients including those who underwent nephrectomies (surgical removal of the a kidney) under the care of Dr M Linehan, who studied BHD in specific kidney cancer patients.

 When I transferred to a research position within the NCI Dermatology Branch, I became familiar with the skin manifestations experienced by BHD patients, as well as the very early understanding of BHD inheritance patterns.

 How were you diagnosed with BHD?

At the NIH, an NHGRI clinical study named ClinSeq was enrolling healthy volunteers with a specific family history of heart disease and I enrolled. I was genetically sequenced in the summer of 2011 or 12 and notified of some “incidental findings” as per the informed consent.

I initially received a phone call to return to the genetic clinic at NIH for follow up. I asked why, and the RN asked me a few questions, to which I immediately KNEW she was “kind of screening me” for the possibility of having any signs, symptoms or history of BHD. So, I point-blank asked her if she WAS asking me about BHD and she informed me she could not disclose this and I had to come in to speak to the team, which I fully understood.

I had the privilege of working with two of the best Nurse Practitioner Genetic counsellors at NIH who taught me the value and importance of their role in patient care and education especially with newly diagnosed patients. One sat in with me during the genetic disclosure meeting of the “incidental finding” of BHD. Dr Les Beisecker was another attendee. They expressed an interest in asking me how I felt about this diagnosis since I was familiar with BHD. I replied that I knew it was significant and that it was a syndrome that warranted surveillance and diligence based on baseline findings, but, in my case, was NOT a death sentence.

I did have some very minor skin lesions and a few lung cysts and few small renal cysts, but was able to run marathons, cycle unimpacted and live life unimpeded. I was sent home and advised to return every three years for surveillance per protocol. The hardest part was informing my daughter that SHE should be tested (she was an adult at that time) Sadly, she suffered a lung collapse in 2019, after which she was sequenced and found to have the same genetic variance as me. You cannot imagine the guilt. She underwent a pleurodesis and did very well and is thriving under the care of a LAM/BHD specialist and taking all the right precautions!

 What symptoms of BHD do you have and what monitoring do you receive? 

I return to NIH for renal MRI and follow up. I understand that the risk for renal cancer is significantly increased in patients with BHD and if caught early, the rate of successfully treating is excellent.

My current symptoms are an increasing number of facial and neck fibrofolliculomas, minor lung blebs/cysts (I do feel them POP at times, but no lung collapses) and no other issues.

Has being diagnosed with BHD changed the way you live your life?

Not really except that if I DO experience MORE than the usual POP of a small bleb and the feeling does not go away or worsens, I know to go seek emergency care and notify care providers of the issues unique to my lungs. 

Do you have any words of advice or wisdom that you’d like to share with other people with BHD?

Please make certain you spend time with a qualified genetic counsellor to gain a full understanding of what BHD means for you and YOUR health.  The tricky part may also involve how your diagnosis may impact whether you inform your relatives. Remember- your relatives may NOT want to know- so tread carefully with this ethically tricky issue. Ask your counsellor for advice on how to approach this.

We would like to thank Effie for sharing her BHD Story.  

If you are looking for a BHD genetic counsellor, please visit our map of doctors or email us at contact@bhdsyndrome.org.