Lessons learned, hope, love and resilience
By Catherine Acquadro, MD, Head of Thought Leadership
The first symptoms and my diagnosis
I became aware of the first symptoms during a client meeting in Frankfurt, in March 2014. It was at the coffee break, I was standing up, having a nice discussion with one the attendees, when suddenly my left leg, more specifically the quadriceps, started to shake, swiftly and irrepressibly. I had to sit down. And the shaking instantly disappeared. I was surprised but not worried. Just thought “I am maybe tired. No worries.”
The same phenomenon happened several months later in Berlin at the ISOQOL meeting. I had to grab a chair to be able to stay in front of my posters, and would stand holding onto the back of the chair to be able to present them without shaky legs. When I had to speak with attendees, I would always chose spots when I could lean on the wall or a pillar, or be able to support myself on a table. All kinds of strategies to prevent the shaking and to make sure that nobody would notice anything. It was exhausting.
At home, I had realized that some activities were becoming difficult, like ironing, taking a shower while standing up (I have to sit down because of the shaking), or washing the dishes. Making lines to buy bread at the bakery had become painful and I always chose times when I knew that not so many clients were present. My daily life was slowly and gradually being impaired. I thought that it was a manifestation of fatigue and stress. At that time, I did not sleep well. My father had been diagnosed with a slowly, degenerative, lethal disease.
I did not say anything to anyone. I was reluctant to tell “Hey guys, I cannot stand up long. I have shaky legs. I need a chair or support.” I felt like a grandma. I felt ashamed that I could not cope with the work, with the pain of seeing my father fading way, with every simple thing of my daily life. I felt I was slowly losing control, and this terrified me. I had to be strong. Weakness was not an option. This was something I had heard all along my childhood. “Be strong, Be independent.” So, I shut my mouth, and tried to be independent and find out by myself.
I started to experiment:
- I quit drinking coffee (5 expressos) for three months, nothing happened.
- I also stopped drinking the only glasses of wine I drank (during the week-ends). Nothing happened. I was still shaking (great! back to the booze! No, I am kidding).
- I told to myself “You are maybe depressed, or anxious.” I completed the HADS, and realized that I was full of anxiety, but not depressed. “OK, your legs shake, because you have an anxiety disorder.” So, I started to do my own relaxing stuff. The legs were still shaking (but I am not good at relaxing).
- I googled “shaky legs” and ended up on Primary Orthostatic Tremor (POT – I like the acronym!): http://www.medscape.com/viewarticle/710062_5. A rare disease with no cure.
“OK, it is maybe a POT.” It was my diagnosis. But, I had not seen a doctor yet. I was delaying. Fearing to be confronted with the reality. And if it was not a POT, but Parkinson, MS, or a tumor in the cerebellum, etc.? Being a doctor is a pain sometimes. And, if it is something that will impair my cognitive abilities. I was terrified that I could lose everything because of a neurological disorder.
I did all the clinical exams I could do on myself: asking my husband to look at me walking forward and backward with my eyes closed, training him to look for a nystagmus, do the finger-nose exercise, etc. Everything looked normal, except for the orthostatic tremor.
However, I did not consult anyone. And, if it is not a POT? I did not want to be confronted to reality.
The decisive event
Why did I finally consult and went through all the diagnosis journey?
Thanks to an Immigration Officer in Newark’s airport* last June! No kidding!
We had to wait for 45 minutes, standing. I was a total freaking mess when I arrived in front of the Officer. My legs were shaking, I had difficulties with my upper limbs. Could not coordinate my movements anymore. I stood up in front of him and, then, I saw two suspicious eyes looking at me:
– Officer: “Are you afraid of me?”
– Me: “No, I am just shaking because I am sick, but do not have an official diagnosis yet. I am doctor, and I guess I have a Primary Orthostatic Tremor.”
He looked at me like if I were an alien, and I thought in myself “OK, you are going to end up in the fish bowl with a tall, impressive, not-happy guy asking endless questions about why are you travelling to the USA.” I was starting to cope with the idea of being put in a plane, back to France, right away. Or worse.
The Officer looked at me, asked for my meeting papers, looked at me again, looked at my papers, looked at me again. I was feeling desperate, almost ready to cry because I could not explain that I had been dumb all these months, not because of ignoring my symptoms (I did not), but because I did not ask for help, not telling anyone (except my husband, and I did not tell everything) because I thought that nobody would understand. I felt helpless. Then, he briefly smiled at me and told me “Madam, you should take care of yourself, you can go.”
I said “Merci Monsieur” in French, left and started to cry softly.
The official diagnosis
When I came back home, I called a neurologist whom I knew would be able to do EMGs. I also chose him because more than 30 years ago, he was my intern, when I was an extern. I trusted him. When I called, no possible appointments before months. Then, two days later, the secretary called back. And here the big unexpected luck! One person had cancelled her appointment, and I could see my neurologist in August. He clinically confirmed my doubts, but wanted to eliminate all the other diagnosis (MS, Parkinson, etc.). So, he prescribed a cerebral MRI. I was lucky again to have an appointment quickly (here, I guess that being a doctor helped. I pushed a little bit). The MRI was normal. I was relieved, But, I was so terrified when I laid down in the machine. And if they find anomalies?
Then, I had to wait for an appointment at the hospital to confirm the diagnosis with two other neurologists. I waited for four months. Not fully relieved.
In the meantime, I had learned the “immigration lesson” and I asked for help at Mapi. I knew I was too weak to face all the Fall meetings and all my speaking engagements, and the response was extraordinary. They all responded present to find solutions to help me and replace me. I was amazed, relieved and so happy for the support. Here, I want to express my thanks and gratitude to Katrin, Elan, Ana, Benoit, Caroline, Frédérique, Jennifer, Vanessa and Christelle! Merci! Merci! It was a relief.
I went to the Movement Disorder Unit of the Grenoble University Hospital where they confirmed the diagnosis. One of the clinicians completed something that looked like the Tremor Rating Scale. I had to give a sample of my handwriting, I had to draw spirals, lines, etc. Do all the things that, in the past, were virtual for me while I was doing literature searches for ClinRO/PerfO measures at Mapi. Suddenly, I was on the other side of the fence. I felt like being back to school, trying to do my best.
Being a doctor was helpful, because I was more or less involved in the diagnosis, I could understand the EMG graphs and discuss about them, listen to the noise of the myoclonus (sound like an helicopter taking off), discuss about the treatment, and decide with the doctors that I would not take anything for the moment. I had to fill a consent form: that they could use my data for research purpose (hey, I signed without readingJ!). I was also very lucky: the team of this Unit is very much involved in clinical outcome assessments, and they understand the value and importance of the patient’s voice. They know how to listen to patients.
I know that I did not go through the usual patient’s journey. Being a clinician myself generated a bias. In a way, it may have generated more stress, because I knew all about all the differential diagnoses and their implications. I knew. And, for a while, I did not want to face the reality. It was a mistake and something totally irrational (Spock would have said “This is highly illogical.”). On another hand, it helped to speed the process. I had tried to be as objective as possible during my experiments, and I had my first consultation with an idea of what I might suffer from: I came with a list of symptoms and situations of occurrence, and confronted them with the experience of other colleagues.
- My main regrets?
To have waited so long before asking for help, and to have denied my need for help.
- The lessons learned?
I have learned what it is to be a patient, to have a handicapping condition, with no cure. It is not a life-threatening condition. I am lucky. But it greatly impairs my daily life. I am learning how to cope with it. I use strategies of avoidance, as advised by the neurologists. I realize that very simple things like buying bread, going to the store or even to the theatre where I have to wait standing without moving is painful. Even now, when I am around strangers, I spend a huge amount of my energy trying to control the shaking.
I have learned that it is not a shame or a weakness to ask for help. That I am not alone. Something I might have forgotten since the loss of my twin.
I have also learned how, as a doctor, I can help improving doctors’ listening. Give time, understand the fear, the loneliness and the pain. I went through all of this.
- My hope?
That my testimony will help patients recognize their symptoms and talk to their physician. I have realized that there was a lot of wanderings. Patients lost, doctors not knowing about this rare disease.
To conclude, I find extraordinary that the University of Pierre and Marie Curie (UPMC) has created a diploma of “Patient Expert” (expert patient). See http://www.upmc.fr/fr/formations/universite_des_patients.html.
Through the Patient University, chronic patients become experts in their pathology and actors in the health system. Its founder, Catherine Tourette-Turgis, a professor in pedagogy at UPMC, has been able to count on the support of the university’s medical faculty to establish, as of 2010, the first French diploma course in therapeutic education open to patients.
This is something great that will help patients and doctors to have a better dialogue, and in fine will improve treatments.
And…my last words: Let’s develop a PRO POT measure! Why not?