This is a continuation of An Interview with the Unstoppable Helena Baker. We had just learned about the multiple decades it took for her to receive her diagnosis of Fibula Hemimelia, her many surgeries, and the start of her career as a nurse.
I was curious if she had met anyone else with Fibula Hemimelia since she only found out what she was living with a few years ago.
Helena: “I’ve met one person. Ironically, he only lives 50 miles away. When I was told I had to have an amputation I asked my doctor if he knew someone else who had been through this same situation, who had had to make the decision for an elective amputation. He put me in touch with a 26-year-old guy with the same syndrome, which was astonishing. He had an amputation 18 months before I did. In the space of an hour long phone call with him I went from being sick at the thought of the amputation and not wanting to consider it, to feeling that I would be in a position to greet it, to see the positive.
He told me ‘there are no parts of my life that haven’t been improved by having the amputation’, and that’s what swung it for me, and for me, for the vast majority of the time, it’s been the same. The amputation has enabled me to walk and take part in events and I can wear nice, lovely shoes now, which might sound silly but it’s important to me. And I can walk without the limp and that’s been amazing, so I don’t have regrets. The stuff with my knee is still an issue, and I’m having issues now with my stump, so for now I’m back in my wheelchair, but my life has been improved and it has allowed me to live largely normally.”
I told her that when I had the pleasure of meeting her in person in London for the Patients as Partners EU event, I had not a clue that she was living with such a condition, nor that she had a leg amputation until she discussed it with me.
She told me she used to have a bad limp, “You would have known.” She’s worked hard on her gait, and now, with a new leg, she’s delighted she’s no longer limping.
Helena’s journey to that conference was her first time traveling alone since her amputation. She’s crossed several more milestones off her list now, including traveling by plane; successfully negotiating security and the body scanners.
Helena: “It’s just fear of the unknown, so I’m really pleased I’ve done that and I’ve got that under my belt. I’m completely independent.”
Not only is Helena independent but she has a tenacious spirit and strong sense of identity, which is not reduced to her diagnosis.
Helena: “It [Fibula Hemimelia] has never defined me. I was born with it, it’s a part of my life, but it’s never ‘Helena with only one leg,’ It’s Helena, who just happens to have only one leg.
I missed so much schooling as a child because of surgeries. I was not able to do a lot of normal activities, it’s made me incredibly determined to not be beaten by anything. I set up my own business, I’ve been the first anesthetic nurse in a hospital and I’ve been a founding partner in MRN.
I’ve done two parachute jumps since my amputation and beforehand I went wing-walking [aka being strapped to the wing of a biplane], with a propeller 3 feet from my face. It was amazing and I’m so proud I’ve done it but I never want to do it again. I just do not want to be beaten. I already know I’m brave so I really don’t know why I had to go wing-walking to prove it!”
(I had to ask Helena what wing-walking was and was absolutely gaping during this part of our conversation.)
Helena: “The parachuting raised money for Cambridge Rare Disease Network (CRDN). And I’m now a trustee of the Rare Disease Nurse Network (RDNN), which is an offshoot of CRDN. We are looking to be able to provide specialist nurses to all families with a rare disease, either face to face or tele-nursing. I’m still setting up that charity.”
With all her spirit and wisdom I implored Helena to provide some pieces of advice for others.
Helena: “For those with my condition, if you read the papers and articles out there everything says amputation is the primary treatment, and when I first got my diagnosis I still had my leg and desperately wanted to keep it and reading that made me feel like there was no hope. Though now I’m glad I’ve done it [the amputation], I’m proud I fought to keep my leg and took care of it until I was no longer able to keep it.
Perseverance is important. You can’t go into something like losing a limb without being ready for it in your own time. Recognize when choices are right for you, listen to yourself. If I had done it earlier it would have been more difficult. But what feels like the worst thing in the world isn’t necessarily; just take your time with it and don’t get pushed into a decision.
Tenacity for any rare disease family is so important. There are often a lot of components that go with one diagnosis.
Give yourself permission to rest. I never would. It took me 52 years to learn and I’m better at it now, realizing that it’s okay.
Have the tenacity to work your way through the system, especially within the UK where you don’t necessarily have the freedom of choice. Have the confidence to question what your specialists are saying and push back.
Access clinicaltrials.gov Your specialist may not be a trialist. But you can look.
Having access to a patient group is very important, I’ve never had that. Now that I have a diagnosis I’ve found a group, but its geared towards children, which doesn’t particularly benefit me. I haven’t found an adult one yet.”
I wondered where Helena goes for support herself, without access to an adult group of other patients.
Helena: “My work family and my home family have been my rocks. I’m incredibly lucky to have a phenomenally supportive CEO and flexibility with MRN. They’ve been there for me every step of the way. I could not have got through it without them; everyone has been behind me and supportive. I’ve heard of the pressure others have been under [with work and health] and I thank my lucky stars.
My family has been incredible and I couldn’t have done any of it without them. My parents have always told me ‘yes, you can do it’. My brothers and sisters in law are funny and keep me going and my husband has been amazing. He has given up work to look after me; he’s my rock. We will be married 25 years in July. It truly has been ‘in sickness and in health.’ I will never be able to repay him to thank him enough for everything he has done. He is always there for me; driving me when I can’t drive and bringing me cups of tea when I’m working from home.”
I asked Helena what she most hopes for the future.
Helena: I hope for adults to have better access to rare disease specialist nurses. I am in the process of setting up a charity. It’s a big thing for me; pediatric care for rare disease is pretty good within the NHS. It has a more holistic approach.
I have specialists for rehabilitation, pain management, orthopedics, my leg, knee, and shoulder, and reproductive health specialists, and no one pulls all that together, in the way that they usually do in pediatric care. A lot of times medical records aren’t able to be shared between institutions and there is some exhaustion in going back through your history again with the next new specialists you meet. We might not always have the capacity to do that as patients, what if we need medical care while we’re unconscious?
As an adult you get a bit lost in the system with a lot of different specialists and they’re all in separate entities. You end up with no one coordinating your care and no easy way of navigating the system. My wish is for rare disease adult care to be easier to navigate and for families to be assisted and supported in that path, perhaps by a case manager.”
I commented on Helena’s incredible, cheery, attitude and asked her if she has always had such an approach to life with chronic illness.
Helena: “I try very hard not to express my frustrations and anger to people when I’m in pain. If you want and need support from people you have to be nice to them. Being miserable all the time can alienate people. Part of the energy you have to expend living with a rare disease is being nice to people.
If you behave like a victim, you’ll feel like a victim. Happiness generates happiness. In my late teens/early twenties I got into a negative mindset and I had to give myself a really good talking to and pull myself together. There was a 10 year period in which I’m sure I was a pain to my family, but I woke up eventually and realized it was up to me. My disorder does not and will not define me.”