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January 12, 2024, by Brigitte Nerlich

Sickle cell disease and identity

In my background post, I tried to provide some information about what sickle cell disease is, how it has so far been treated and what a new therapy using gene editing might involve. When such as treatment possibility was announced as approved by health agencies in the UK and the US, newspapers took (some) notice, especially since gene editing was involved.

A detailed analysis of the newspaper coverage would extract a variety of themes relating to science, patients, challenges and so on. In this post I only want to provide some limited insight into one of the bigger themes that emerged, namely the issue of identity.

Sickle cell disease in the news

In order to gauge how the news reacted to announcements about sickle cell disease (discovered in 1910) and gene editing (discovered around 2012), I searched Major English Newspapers on the newspaper database Lexis.

As you can see on this timeline generated by Nexis, sickle cell disease has been reported in English news since about 1972, when the US sickle cell act was passed. You can also see the little spike at the end, indicating discussions about sickle cell and gene editing attracting attention, with first thoughts of treating sickle cell with CRISPR emerging in around 2013. Graph depicting timline of frequency of mentions of sickle cell and Crispr in the news between 1972 and 2023I narrowed my search to between 1 October 2023 and 18 December and used the search terms CRISPR AND “sickle cell”. I found 42 articles (if you expand the search to 31 December you get 10 more articles – mostly summaries of science and tech advances for 2023).

Of the 42 articles twenty were published in the New York Times, eight in The Independent, three in the Atlanta Journal-Constitution, three in USA today and two each in The Baltimore Sun, The Daily Telegraph, the Los Angeles Times and The Hartford Courant. Many newspapers only published one article on this matter and I did not study those. Strangely, articles published in The Guardian, a major newspaper in the UK, were missing, so I added two articles manually. I also deleted four articles which were repeats, giving me a corpus of 40 articles.

There was much more in-depth discussion of the matter in the US than the UK newspapers, largely driven by Gina Kolata writing for the New York Times. Kolata has a long history of researching this topic and giving patients a voice. (I first came across Kolata when she published her book on cloning in 1998)

Sickle cell and identity

As early as 17 January 2023, Kolata interviewed a patient, Dr Terry Jackson, about sickle cell and wrote: “The disease has directed his every choice. It led him to get a Ph.D. in genetics from Duke University because he became fascinated with the science behind it. It is central to his identity.” (NYT, 17 January, 2023) She was onto this theme from the very beginning.

Quite a few other patients she and others interviewed talked about identity in one way or another, focusing in particular on the transition or ‘transformation’  from ‘sickle cell identity’ to ‘normal life identity’. As another patient said in the same article: “Without the disease […] patients ‘don’t know who they are.’ Many worry, she said, about ‘trading one familiar issue — sickle cell — with something else and overall fear of the unknown.”

Reading the patient interviews in my little corpus of articles, it becomes clear that sickle cell, like so many rare and/or chronic diseases is not just ‘a disease’ but becomes part of one’s identity, shaping how one lives in the present and with others, how one sees one’s past and how one thinks of the future and one’s life with others.

Identity and others

All sorts of issues or themes are entangled with identity, such as access and affordability, risks of treatment, trust, structural racism and medical neglect – which would all need to be studied in the future. As one patient said: “This is tremendously exciting. At the same time, there are real concerns about affordability and access to what is a risky and aggressive treatment. There are also complicated questions about how identity shifts when such an all-consuming disease is ‘cured.’ The expected approval of this treatment itself will not erase structural racism or undo decades of medical neglect, of course. But it is a start.” (NYT, 30 October, 2023)

Above all, there is the deep-rooted issue of trust or rather mistrust: “most Americans with sickle cell are Black and may not trust a health care system that has often failed to provide the most basic preventive and therapeutic care for those with the disease. Some with sickle cell are anxious about undergoing a medical treatment that is on the cutting edge of biotechnology.” (NYT, 31 October, 2023)

And sickle cell does not only define interactions with medics; the same goes for interactions with relatives, peer groups and wider society: “‘You’re an adult but you’ve never applied for a job. Other people don’t have friends outside their sickle cell peer group,’ he continued, extrapolating from the experiences of those who have undergone bone marrow transplants. ‘Some people almost need a society re-entry program. And then there are others who have blossomed, gone off and done wonderful things.’” (NYT, 30 October, 2023) Identity adjustment can take different forms depending on circumstances, experiences and others.

So, making the decision to have gene therapy or not is entangled in all of this: “‘Once all such challenges are overcome there is still a decision to make and that decision affects you and your identity. ‘It’s a major learning curve from having sickle cell my whole life,’ she said. ‘I’m still struggling with that mind-set — ‘sickle cell is you.’” (NYT, 31 October, 2023)

Identity and time

Identity is defined by experiences in the past, by how one lives in the present and how one images oneself in the future. Such past experiences are often linked to repeated episodes of pain which, as Victoria Gray expressed it, become ‘a part of one’s life’ (see NYT, 20 November, 2023). These episodes or crises not only define people in the present but also constrain what they can imagine or dream to be or not to be in the future: 

“With each crisis, Mr. Holmes found himself farther away from the future he imagined. He would not serve his country as a Marine. He would not become a writer on a ranch, living a quiet, secluded life. He could not finish community college. He could not even keep a job washing dishes.” (NYT, 30 October, 2023)

Gene therapy can change the relationship between identity and the future profoundly, giving people hope but also anxieties.

Identity and life

Many of those who thought they could cope with a future ‘outside’ sickle cell, and who then had the experimental gene therapy, came out the other side feeling that they had a new life.

Here are a few quotes describing this newfound life: One patient describes a feeling ” as the ‘newness of life.’” (NYT, 30 October, 2023) “Disla, who was born in July 2001, considers March 3, 2023, her ‘rebirth day,’ the day her blood was so transformed, it was almost like being born again.” (USA Today, 31 October, 2023) 

“For the first time, Mr. Hubbard told me, he could think about his future and what he wanted to do with his life. Before, he said, ‘I didn’t think I would have a life.’” (NYT, 15 November, 2023) “‘Now she can have a life,’ Ms. Citron said. ‘She never did before.’” (Ibid.) “Tapering off three high-dose pain medications was tough, but ‘after that, my life has really been transformed,’ she [Gray] said. ‘I get to live life as a normal person.’” (USA Today, 8 December, 2023) “‘I haven’t had any pain whatsoever,’ he said. ‘It’s a second lease on life.’” (Philadelphia Inquirer, 8 December).  And there are many more examples.

But there is a downside too to this new life stretching ahead of people who have undergone the treatment successfully, as the new life clashes with the old. “Newsome was hesitant at first about gene therapy. He was used to his life the way it was and didn’t want to take a risk on a new therapy. ‘Myles is scared,’ Glenn, his mother, said. ‘Since all he knows is pain, it’s like, this is the devil I know.’” (USA Today, 1 November, 2023)

Identity and adjustment

Entering this new phase of life can be frightening and people need to adjust. “‘The shadows or remnants are there, waiting to come out – but it never happened,’ she said. ‘For 27 years, I lived one way and all of a sudden I had to retrain my mind and body to live (a different) way.’” (USA Today, 8 December, 2023)

Getting ‘cured’ of sickle cell disease is not straightforward, physically and mentally. “One of the Vertex clinical trial patients, Marie-Chantal Tornyenu, 22, who is a senior at Cornell University, said patients also had to be prepared for ‘mental adjustment’ after treatment.” (NYT 31 October, 2023)

Sometimes this transformation of a person previously defined by and identifying with sickle cell, can have negative repercussions for those around them: “Though he expected those in his world to be elated by his newfound health, it was not that simple. His wife, accustomed to her role as the caretaker, was unable to adjust to the shift and they ultimately divorced. The adjustment was hard on Mr. Holmes, too. He realized that he had come to terms with the idea that he would die young, but living with the knowledge of all his missed opportunities was almost harder. No one had prepared him for that.” (NYT, 30 October, 2023)

“‘These people simply don’t have sickle cell anymore,’ said Glassberg […]. ‘They have normal blood counts, they have normal energy levels. They have some residual scars of having lived with the disease for 20 to 30 years, but they’re not people with sickle cell anymore. It’s a huge step forward.’” (USA Today, 31 October, 2023) It’s a dangerous step though, a stope that can disrupt the self and the relationship between self and others. And it’s a step only very few people can take at the moment.

Identity and space

To get this new treatment and potentially a new life, you have to live in countries with advanced medical technologies and health systems. If you live outside these spaces your chances of changing your identity and starting a new life are virtually zero.

“Experts say the one-time treatment is out of reach in India and Africa — places where the disease is most common” (The Independent, 14 December, 2023); “there is no clear path for the new  therapies — one-time treatments so effective in clinical trials that they have been hailed as cures — to reach the countries where the vast majority of people with sickle cell live.” (NYT, 8 December, 2023)

Some people will try to get access to the therapy abroad if they can afford it, but most people who have sickle cell disease in these countries can, in a way, only catch tantalising  glimpses of new miraculous cures on the internet. “Dr. Obiageli Nnodu, director of a sickle cell program at the University of Abuja in Nigeria, has discussed the new gene therapy with some of her patients. It’s a source of joy, she said, ‘but it’s a moonshot away.’” (ibid.) 

Sickle cell and gene editing

In this post I have reported what people thought about the new treatment for sickle cell disease and how central identity was to their stories. Surprisingly, what seems to have been not central to their stories was the ‘gene editing’ part of the treatment. Only very few articles mentioned potential off-target effects, and when these were mentioned, they were mentioned by journalists not patients. Off-target effects are unexpected, unwanted changes to a person’s genome.

After consultation, the FDA did not deem the danger of such effects a high enough risk to not approve the treatment and off-target effects were not mentioned in the approval. The MHRA too didn’t mention off-target effects. This is interesting and supports findings from an attitude survey that showed that “participants expressed hope that genome editing technology would rechart the course for SCD [sickle cell disease” but also expressed “concerns related to involvement burden, uncertainty of clinical outcomes, and equity in access”.

Addendum, 15 June, 2024. Some now deem SCD to be curable!

Image: Pixabay, geralt

Posted in disease