Part 1: 'The story of how the word "life expectancy" flickered before me one day, as I repeatedly suffered from pneumothorax'
Nice to meet you. In my 30s, I was diagnosed with a rare disease called BHD syndrome (Birt-Hogg-Dubé syndrome).
I am writing this note for those who, like me, suffer from recurring pneumothorax, those who are anxious after being told they have an unexplained lung abnormality, and those who are researching BHD syndrome.
At first, it was "just a pneumothorax"
One day, a sharp pain suddenly shot through my chest. When I visited a local clinic, I was told my lung had collapsed, and I was sent directly to the respiratory surgery department of a general hospital. I was diagnosed with spontaneous pneumothorax.
I was told it was common in thin, young people and that it could recur—at the time, I accepted that explanation.
However, a CT scan taken just in case revealed something unexpected. There were countless cysts not only on the outside of the lungs, which cause pneumothorax, but also inside the lung tissue itself. The doctor in charge told me, "I have never seen this before." Those words gradually began to corner me.
"How many more years can I live?"
After subsequent tests and examinations, the doctor in charge told me, "There is a high possibility of LAM."
My husband and I looked it up. It is a disease that can be slowed down but not stopped, and sometimes it worsens rapidly. There was a possibility that I would need an oxygen tank within a few years. And then there was the "50% five-year survival rate" figure written on the website of the Intractable Diseases Information Center.
(*However, there is also literature in Japan stating an 85-90% ten-year survival rate. I hadn't researched that far immediately after my diagnosis, and I was devastated by the first number I saw.)
How many more years can I live?—I cried while thinking about that, even though the diagnosis hadn't even been confirmed yet.
After that, I found a specialist on my own, changed hospitals, and underwent repeated tests. Finally, after genetic testing, the diagnosis was "BHD syndrome." When I returned home from the hospital, I cried with my husband, who had been by my side the whole time. It was the moment when the long period of uncertainty finally came to an end.
Even with a diagnosis, the anxiety doesn't go away
Even after finding out it was BHD syndrome, the pneumothorax kept recurring. Including cases not confirmed by X-ray, it happened more than five times. It was always in my right lung.
Each recurrence forced me to face a choice about surgery. It was after the final recurrence that I finally made the decision I had been putting off every time the risks crossed my mind. Now that the surgery is over, the pneumothorax in my right lung has settled down.
But that doesn't mean the anxiety has disappeared. Is my right lung really stronger after the surgery? Won't the same thing happen to my left lung someday? In a life where I cannot avoid air travel, should I take the risk of pneumothorax and fly, or should I stop flying?—I am still facing these unanswerable questions every day.
And, I got pregnant and gave birth after knowing it was a genetic disease
BHD syndrome is a hereditary disease. There is a 50% chance it could be passed on to my child. Knowing that, should I try to conceive? What if I get a pneumothorax during pregnancy? What if my lungs rupture from the strain of childbirth? How did I share those risks with medical professionals and how did I overcome them?
This is also one of the themes I hope to write about someday.
What I want to convey in this note
When I received my diagnosis, I searched for all kinds of information, from blogs to academic papers, in both Japanese and English. But there were almost no first-hand accounts from people actually experiencing it, and because it is a rare disease, the data in the papers had small sample sizes. There were also differences in onset tendencies based on race and differences in treatment policies by country, so I remained in a state where I didn't know what information was correct and applicable to me.
That is why I decided to write this.
I will be sharing content based on the following themes:
The detailed process from being suspected of having LAM to finally receiving a BHD diagnosis
How I found a specialist on my own
The internal conflict before undergoing genetic testing and my feelings upon hearing the results
The struggle leading up to the decision to have surgery
Air travel, vacations, and work—finding a balance between BHD and daily life
Putting into words the "premonition of pneumothorax" that only those who have experienced it repeatedly can understand
Fertility treatment, pregnancy, and childbirth after learning about my genetic condition
I plan to share detailed personal stories in paid articles, but I will also provide many articles that can be read for free.
Finally
This note is strictly based on my own personal experience. Since symptoms and progress vary from person to person even with the same disease, I would be happy if you could read this as one reference. Also, while I write about medical information based on my research, I am not a professional. Please be sure to check any concerns with your own doctor.
If you are currently struggling with pneumothorax or BHD syndrome, please let me know in the comments or via message. I would like to write articles that address the questions and concerns I receive as much as possible. Please do not carry this burden alone.