CJG Blog

Center for Jewish Genetics blog

A Conversation with Patient Advocate Mark Hoffman

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Mark HoffmanMark Hoffman

We spoke with Mark Hoffman, who has Chronic Lymphocytic Leukemia (CLL), about his medical journey. CLL is a slow progressing cancer of the blood and bone marrow. Experts believe that in some cases, there may be a genetic contribution to the development of CLL. After his diagnosis, Hoffman became an advocate for those with CLL. He works with the CLL Society, a patient information and advocacy organization, and is participating in a clinical trial to help advance treatment options for individuals will CLL.

Tell me a little bit about finding information about chronic lymphocytic leukemia after you were diagnosed. Where did you look?

When I was first diagnosed, I got some books and looked online to try to understand the condition. The one thing that’s good about CLL is that it’s slow moving, so you have time to do some research.

When I went for a second opinion with a CLL specialist, I ran into another man with CLL. He invited me to a support group, which was a real breakthrough for me. It turned out to be more of an educational forum, and there I met other people who had CLL and told me about CLL Society. The CLL Society has been a wonderful resource, as has Patient Power, which is a website with information about cancer for patients and professionals.

What advice would you give someone who is diagnosed with cancer? What are the best ways to learn about what’s happening and become an advocate for yourself?

In my opinion, the most important thing is to find the experts in your field and get a second opinion from a specialist. Other things that I found helpful: 1) Learn as much as you can about the disease, 2) Find a support group or educational group to go to, and 3) Find web resources and people that are at the forefront of your disease.

You not only sought out the latest information, but you’re also helping to develop better treatments through your participation in a clinical trial. We’re still learning so much about all diseases that have a genetic component, and medical research is critical to scientific advances. Tell me about participating in the trial and your takeaways.

People hear clinical trial and they think, "Oh, it’s dangerous." Sometimes, that can be the case. But in my situation, it feels like a win-win. The reason I wanted to do this trial was that, with my cancer’s genetics, a combination of drugs works better than just one. That’s what they’re doing in this trial: They hope to show that a combination of therapies is more effective than a single agent. I get a good treatment and they get to show that it’s effective.

You make it sound like it’s been really easy.

Well, I did have to wait for the trial to open up. I had my son’s Bar Mitzvah and unfortunately didn’t look my best because my lymph nodes were very swollen. Once I started the therapy, my lymph nodes went down within a week, so it’s unfortunate that it didn’t happen in time for the Bar Mitzvah. One of the disadvantages of the study is that you have to follow the protocols, which can mean that you have to wait for treatment.  

Your kids have been growing up as you’ve been going through this journey. What would you say they have learned from watching you in this process?

I hope they’ve learned that you really have to study everything, and be independent and figure out what’s best for you. 

You can learn more about CLL at http://cllsociety.org/.

To learn more about hereditary cancers that are more common in Jews, visit our website or contact the Sarnoff Center to speak to our genetic counselor.

Interview by Becca Bakal, MPH

Sources:

http://www.mayoclinic.org/diseases-conditions/chronic-lymphocytic-leukemia/home/ovc-20200671

http://cll.ucsd.edu/

https://rarediseases.info.nih.gov/diseases/6104/chronic-lymphocytic-leukemia



Book Review: The Boy Who Loved Too Much

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By Guest Blogger Karen Litwack, LCSW

Jennifer Laston's The Boy Who Loved Too Much: A True Story of Pathological Friendliness is an educational and inspirational story about Eli, a young boy with Williams syndrome, and the profound affect that this rare genetic disorder has on his life and the lives of those closest to him. Eli’s mother Gayle is his primary caretaker. While they love each other deeply, their relationship is constantly challenged by the wide-ranging impact of Eli’s overly loving disposition and Gayle’s desire to respond to the best parts of her son while trying diligently to help him master the complexities of school and family relationships.

Williams syndrome is caused by a deletion of about twenty-six genes from one strand of chromosome 7. About 1 in 10,000 individuals have Williams syndrome and may experience some of the following symptoms:

  • Heart defects due to loss of the elastin gene
  • Unique facial characteristics, such as a small upturned nose and full lips
  • Short stature with pear shaped body type
  • Mild to moderate intellectual disabilities
  • A highly social and outgoing personality, which leads to indiscriminate affection for loved ones and strangers
  • Unique language and musical abilities

Williams syndrome is sometimes described as the "opposite" of autism because individuals with autism often have poor social skills but stronger organizational, mathematical and special relations abilities. Autism is much more common than Williams syndrome, affecting approximately 1 in 68 people.

The book primarily focuses on Gayle’s role as a caretaker. Gayle sees herself as a fighter and nonconformist, qualities that serve her well as she battles for her son’s right to special education, specialized therapies and inclusive social activities. Over time, the amount of energy and resources she spends as a caretaker begins to consume her. As Eli matures, Gayle realizes that she needs to care for herself in order to be there for her son. This is a pivotal moment for Gayle, who isn’t sure how to create a life of her own with her current responsibilities. The book concludes as Eli triumphantly graduates from middle school. Gayle is proud of their accomplishments but also recognizes the challenges that lay ahead.

As a social worker, I would recommend this book to anyone involved in genetic services who has meaningful contact with patients and families. It’s important for healthcare professionals to recognize when caregivers can benefit from support services to successfully parent a child with a complex genetic disorder such as Williams syndrome. Individual and group counseling, organizational support (Gayle was active in the Williams Syndrome Association), participation in online forums and even respite care can all help sustain the around the clock effort it takes to care for individuals who require physical and emotional support.

For more information about William syndrome, visit https://rarediseases.org/rare-diseases/williams-syndrome/ or speak to the Center's genetic counselor.

 

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