Helena Baker is the Vice President of Clinical Strategy at Medical Research Network, a Nurse, and also, a rare disease patient. I had the opportunity to interview her for a glimpse into her life with Fibular Hemimelia and to learn a little about how she has managed so much, so cheerfully.
Fibular Hemimelia is a congenital disorder with a spectrum of severity of anatomical abnormalities in the legs. Helena has always been aware of her condition. She has had appointments with an orthopedic surgeon every six months since her infancy. To her, it was just a normal part of growing up.
I thought that perhaps, since the definitive physical manifestations and the condition were present at birth, that she might have had a shorter diagnostic journey than some other rare patients, but that was not the case.
Helena, age 52 now, was finally diagnosed aged 49 and a half.
Helena: “It was a journey; we didn’t receive any diagnoses at all for the vast majority of my life. As a child, I believe we were told it was a syndrome without a name, perhaps just a number. No one was able to answer my family’s question about it. As I got older, I kind of stopped asking. I just got on with it; it almost stopped having any meaning to me, what it was called.
In 2015 I had a fusion performed in my right foot and had to go back to my specialist as an emergency due to some problems. My normal orthopedic consultant wasn’t there when I went. A new one was there instead. He took off the plaster and said ‘oh you have Fibula Hemimelia.’
When I confronted my usual consultant about it he was deeply apologetic; he said he had just assumed that I knew! He probably only knew because he works in a center that deals with many rare and complex patients. Other physicians I’ve spoken to since then have never heard of it.”
I asked Helena what is was like for her to receive a diagnosis that she had stopped actively searching for.
Helena: “It actually felt incredibly weird to finally have a diagnosis and I have no idea why, but it really upset me to finally to know what it was. It was just a really big thing for me and very sudden. It shook me up and it messed with my mind a bit, but now it is so much easier to be able to say what I have instead of explaining my medical history. And it’s enabled me to google it, to look for information and research. I think it’s become clear since the diagnosis that, like most rare patients, I have more than just that syndrome. Fibula Hemimelia syndrome tends to just affect bone, but I also have ligament issues, issues with my connective tissues, and I’m infertile. It is not just the Fibula Hemimelia; having that diagnosis has enabled me to address what is going on with my bones but not my other symptoms. At least I can hone down on some of the symptoms. I can be more specific in most of my searches.”
For a few patients in the rare community, a diagnosis means access to treatments that may improve their quality of life. For Helena’s condition, the primary means of treatment is always surgical. She was well experienced in the world of reconstructive surgery long before she had a name for her disorder.
Helena: “All of my life I’ve had surgeries, probably in excess of 150. I have been having surgery since I was 7 and that doesn’t really phase me, but what I’m finding now is a bit wearing. You think one procedure is going to fix something and then something else becomes a problem. For example, I had pain in my foot that was supposed to be fixed by the fusion. It wasn’t. Since then, I have had my leg amputated and now, as a result, my calf muscle has atrophied and my knee is constantly dislocating. They were going to perform a ligament reconstruction, a major operation, but I was recently told the risk of infection is too great.
It’s not that I mind not having more surgery, but it was going to be how I could stop constantly dislocating my leg. There are moments where you just feel like it’s one step forward and two steps back and every time you think you’re going to get back on solid ground, there’s something in the way.”
I wondered how she coped with the pain while looking for a solution. She will be starting physiotherapy again, which she feels optimistic about, and is looking into getting a special brace to support her ACL and PCL.
Despite the disappointments and frustrations of problems post surgeries, Helena feels lucky in a lot of ways. She’s glad her main specialist doesn’t always immediately look at surgical solutions and is careful to look first for other options. She has had consultants who were very quick to suggest another surgery. She’s a strong believer in the importance of having a good working relationship with specialists.
I was curious if she’d ever had negative experiences to the point where she had switched to another physician, briefly forgetting the differences between healthcare where I am based (the US) and where she is (the UK).
Helena: “Within the NHS it’s very difficult to choose to go somewhere else. As a child and young adult, I had no choice. You got what you got. You had to go on with it, and hope you were in the best hands and that the advice you got was right and appropriate. I am fortunate to have private health insurance now, so I have more of a say, and I am a nurse so I understand the system and the process. I am less afraid than others might be to ask my doctors when they are referring me; ‘Who would you send your wife to?’
People with rare diseases in the UK have very restricted access to specialists. The patient journey can be incredibly long and burdensome because we do not have freedom of access for who we want to see.”
I can only imagine this, knowing US families who have traveled across the country searching for the best and brightest to receive a diagnosis and still have had to wait far too long.
I’m sure Helena’s experience as a patient must help her be a wonderful nurse. I asked how much she thinks growing up with a rare condition influenced her career path.
Helena: “I grew up wanting to be a nurse. That was heavily influenced by spending most of my early years in hospitals, but my favorite aunt was a nurse and I worshiped the ground she walked on. Undoubtedly, I’ve been able to empathize with patients because I understand how scary it can be, how uncomfortable, being in an unfamiliar environment. For a long time I specialized in operation theaters because I remember being taken in for operations and being absolutely terrified.
I became the first anesthetic nurse in my hospital and pioneered the use of nurses instead of technicians at that hospital to give better patient care, rather than just technical care, as a direct result of experiences in the anesthetic room as a child.”
Check back for part 2 of our interview coming soon!