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.

 

Similarities and Differences in Fragile X Syndrome and Autism

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Autism

Most people have heard of autism, but many are not familiar with an associated disorder: Fragile X syndrome (FXS). Fragile X syndrome is the leading genetic cause of autism and the most common cause of inherited intellectual disability. According to the Centers for Disease Control and Prevention, Fragile X and other genetic or chromosomal conditions are responsible for about 10 percent of autism cases.1 On the other hand, nearly half of all males with FXS have also been diagnosed with autism.2

While there is overlap between the two conditions, there are also key differences. In honor of July as Fragile X Awareness Month, we’re shedding some light on the causes, symptoms and treatment of Fragile X syndrome and its link to autism spectrum disorders.

Cause: Fragile X is caused by a genetic mutation in the FMR1 gene on the X chromosome. The causes of autism are less clear.

Like other X-linked conditions, Fragile X syndrome is caused by a genetic mutation on the X chromosome and typically is passed down from carrier mothers to male children. Females have two X chromosomes, which means that females with a mutated FMR1 gene usually also have a working copy of the gene. Because this working copy compensates for the changed copy, females may be carriers of Fragile X but typically are not affected by it. When females are affected, they are more likely to exhibit milder symptoms than males with Fragile X. Males only have one X chromosome and therefore a male with a mutation in the FMR1 gene will have the disorder.

Unlike with FXS, there’s no one cause of autism spectrum disorders. Research shows that a combination of genetic changes and environmental factors may increase a person’s risk of autism.3 While the genetics of autism are not yet well understood, there’s evidence to suggest that autism may run in families.3

Symptoms: Individuals with Fragile X often have intellectual disabilities. Individuals with autism have difficulties with social interactions and communication.

Although symptoms of Fragile X and autism spectrum disorders overlap, FXS is characterized by intellectual disability and developmental delays while autism is defined by challenges with social interaction and language impairment. Since some individuals have both disorders, the line between signs of FXS and autism can be blurry. Even those who don’t have both disorders may exhibit similar symptoms, such as repetitive behaviors and poor eye contact.

Symptoms of both Fragile X and autism range in severity. Some individuals may experience relatively mild symptoms while others have more severe forms of the disorder(s).

Treatment: There currently is no cure for Fragile X syndrome or autism spectrum disorders. However, early intervention and treatment can help.

While there currently is no cure for Fragile X or autism, early intervention may help improve a child’s development.4 If your family is affected by one or both of these disorders, a team of doctors and health professionals can work with you to develop an individualized treatment plan that best meets your needs.  

In some cases, genetic testing may provide a diagnosis that can help guide treatment. Fragile X testing is recommended for those with a family history of the disorder and for individuals with autism. Fragile X testing is often performed in conjunction with a microarray (another genetic test) for children with autism, intellectual disability, or developmental delay of unknown cause.  Carrier screening for Fragile X is also available to all women preconception and included as part of the Center’s screening program unless otherwise requested.

Questions? Our genetic counselor is your resource in the community for information about Fragile X and genetic testing.

Sources:

  1. https://www.cdc.gov/ncbddd/autism/data.html
  2. https://www.cdc.gov/ncbddd/fxs/data.html
  3. https://www.autismspeaks.org/what-autism/learn-more-autism/what-causes-autism
  4. https://www.cdc.gov/ncbddd/fxs/facts.html

Photo credit: Darryl Leja, NHGRI

 

Meet Community Health Educator Becca Bakal, MPH

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Becca Bakal, MPH

From Becca: 

I am honored to be joining the Norton & Elaine Sarnoff Center for Jewish Genetics as a Community Health Educator. I grew up in Barrington, Illinois and then moved to New Haven, Connecticut for college. I majored in Women’s, Gender, & Sexuality Studies before going on to complete a Master’s in Public Health in a joint BA/MPH program at Yale University. I have a background in health education, particularly sexual and reproductive health as well as obesity prevention. I’m thrilled to be able to apply my health education background in the Chicagoland Jewish community, which has always been a home to me. My current pastimes include going to farmers markets and getting lost while exploring the city.

Please reach out to me at RebeccaBakal@juf.org or 312-357-4717. 

Baby1

We are proud to announce that our Carrier Screening Program is open with our new medical provider Insight Medical Genetics (IMG). Visit our Get Screened page to learn more about our program and how to register!

CJG-Whats-In-Your-Genes

Do You Know What's In Your Genes?

What is the most valuable gift you can give to your family? The gift of good health! There are many health conditions that run in families. Knowing your family health history can alert you to the potential risk for a variety of genetic disorders . Be sure to check with your relatives for warning signs and assess your risk for hereditary cancers!

Did you know: Ashkenazi Jews are 10 TIMES more likely to have BRCA mutations, which significantly increases lifetime risks for hereditary cancers, so what does this heightened risk mean for you? Click here to learn more !