I saw for the first time a terminal Huntington’s patient; he was breathing through an oxygen mask, his chorea evident as he lied in a bed where he will most likely die. He was thin, demented, choking periodically as he struggled with another round of pneumonia, which will most likely kill him in the end. I had never seen a terminal case, and it sent chills down my spine. Death is feared, death with pain even more. I was in Taipei, where I gave a seminar on our work at the 4th Taiwanese Ataxia Conference at Academia Sinica.
I had landed the day before after a 25 hour trip from Los Angeles. I woke up at 3:30am, the 16 hour jet lag to hard to fight without medication. I decided to spend my first day in Taiwan visiting patients, their families, and their doctors. Three postdoctoral fellows took me to 2 hospitals in Taipei where I met two neurologists and 4 families. I met with the wifes of the affected men, who were at various stages of the disease. I met with the son of the first patient I met, a young 24 man who is also positive for HD. He is fine now, and my conversation with him lit a light inside me. He was living his life not thinking about HD. He did not speak English, and Dr. Soong translated back and forth. The boy wanted to help, but did not know how. He wanted to do something to help me. He liked me, he smiled nervously at first, but later he opened up and shared his stories with me. His mother held the sick husban’s hand, with tears in her eyes. The husband, now 54, had lost the ability to speak, and his chorea made writing impossible. His world was one of a man conscious but trapped in a body unable to communicate. The boy did not know about youth groups, he did not know other people in his situation, but would love to meet others.
In an age of Facebook and Twitter, this is an unacceptable occurrence. The fire in my soul ignited, we must do something to connect people affected by HD and also other genetic conditions. during the conference, most of the patients and their family attendees suffered from cerebellar ataxia, which seems more prevalent in Taiwan than HD. Their suffering was visible; most were in wheelchairs, some held by straps to their chairs as they lacked the strength to hold their backs up. I met many of them, aided by the scientists who translated my answers to their questions. I never felt more inadequate than during the questions they asked about how I could help them. I am not a medical doctor, I do not have medicines to offer them, and our work is too slow to help them at this point. But I will deliver to them something which will make their lives better in my lifetime. I also gave them something which has an incalculable value: hope.
The hope that I was there for them, that I and others like me are working every day to improve their lives. The hope that I believed in the value and quality of our work. After my seminar I took some questions; one came from a neurologist who stated his skepticism about my ‘hope’ and my ‘sense of excitement’: science has not delivered, why is our work different?
The question was ill posed at a conference with patients and relatives. But there is a degree of truth in his skepticism. We as a medical and research community has thus far failed. But i am not here if i did not feel we will succeed. It is this hope, this dream of helping, which keeps me and others working in the HD field. I do not doubt we will find something which will help. But i also know that I can help in other ways. My visits to the patients around the world have taught me that the human condition is universally similar. Whether in Europe, Brazil or Taiwan, we all need care and compassion, and a sense of hope. If I have learned something during these last four years in the HD field is that we, as scientists and physicians, are the only ones in such a position of authority (hence we are respected) that we can help unite world people with a message of hope and of collective responsibility. I am becomign an ambassador of sorts for the patients: my blog was an easy attempt to reach out and educate. But now my life is taking me in a more of an activist direction: I must reach out to more people, especially the young ones who are healthy enough to do something for their fellow at risk or HD positive human beings. Genetic disorders are a challenge to living a full life (one free of fear and one when a person can fully develop in their humanity), a challenge that often times is more psychological and social than disabling from the medical perspective. And this we can change, and we can change now. We do not require medicines to work together to instill hope. We just need to be there for each other.
I am now in Singapore, where I have business meetings. I am humbled by HD, but I am inspired by the dedication and love of the relatives and caregivers, for the wonderful physicians and students who want to help. If there is something truly wonderful about life is the commonality of human emotions and the fact that, now more than ever, we are part of one world. Lets work together to be more closely related. There is strength in numbers, and there is even more strength in a hug and a smile.
Be well, and speak to you soon…. from somewhere around the world