Supporting Myotonic Dystrophy through Biobank Sample Donations – A Family Affair

By Katharine Hagerman, PhD and Lisa Harvey-Duren

Lisa’s Story

When I decided to start a family, I was in the prime of my life. I was healthy, strong, and athletic and I was a former collegiate athlete. I always dreamed about what it would be like to have a family and hoped I would pass down the love of sports to my children. I had a great career and had just finished graduate school. It was a shock when I had several unexplained miscarriages, but my doctors assured me that there was nothing to worry about. Finally, to my amazement, I got pregnant in January 2005. In an effort to focus on this pregnancy, I left my job to focus on taking care of myself during my pregnancy. I had a relatively normal pregnancy, but as the months went by I became concerned that I felt little to no fetal movement. Over the months the doctors ran many tests but the only thing that eventually came back was that I had too much amniotic fluid. Not long after that, I went into early labor at 31 weeks, and gave birth to my daughter Kayla a few days later in an emergency C-section. Kayla was born in extreme fetal distress, not able to breathe or move on her own. I was instantly thrust into the world of being a medical mom and not quite prepared for the unknown path ahead of me. Kayla was diagnosed a month and a half later with the congenital form of myotonic dystrophy (DM1) which is a genetic condition. The congenital form is almost always passed down from a mother to her child. Not only was I facing a medical crisis with my daughter, but now I realized that I had to worry about my own health. Several months later, it was clear that my mother Jane, and her identical twin sister June, were also facing this difficult diagnosis as they had been experiencing unexplained muscle weakness.

After a long hospital stay with Kayla, I made the decision to become an advocate for DM1. It’s a pretty helpless feeling to have a child diagnosed with a serious neuromuscular disease, especially one that affects the entire family, but by taking charge, being proactive and getting involved in research, it lessened the blow a little. Helping researchers provided a sense of hope and that made the day to day struggles a little easier. I found a large group of researchers studying myotonic dystrophy and immediately offered to become a study participant. Sadly, we lost June in December 2012 to sudden cardiac death – another feature of myotonic dystrophy. I helped June’s children to make the decision to donate her body to Stanford’s biobank. In the midst of their shock about her sudden death, donating her body to DM1 research allowed them to feel that her death wasn’t in vain and to know that she was able to help others living with myotonic dystrophy.

Over the years, my family has participated in many research studies and they have donated many different biological materials to research programs that are working towards therapies for myotonic dystrophy. We have given skin biopsies, muscle biopsies, had numerous blood draws, and my husband Paul and I have donated spinal fluid to help advance research into DM1. Paul’s sample was used as a control as he does not have myotonic dystrophy.

In April of 2019, Kayla unexpectedly passed away from sudden cardiac death related to DM1. Her death came as a huge shock to me and my family but hours after losing Kayla, in the midst of my utter grief, I decided to give the ultimate gift by donating Kayla’s body to researchers at Stanford. I never imagined that Kayla’s life would be cut short at just 13 years old but knowing that Kayla’s body will help advance treatments for myotonic dystrophy provides hope that our family and friends will have a better future. Hope is immensely powerful.

My family is still identifying extended family members who have the gene for myotonic dystrophy and so our family odyssey continues. My hope is that as more family members get diagnosed that they will consider taking the time to donate to this important research. The researchers need patients to get involved so they can identify treatments for this devastating disease.

The Stanford Biobank

The Stanford Biobank is a collection of biological samples from donors with neuromuscular conditions such as myotonic dystrophy. The Biobank organizers coordinate collection, preservation, and sharing of precious biological samples to researchers who do not have access to people with these rare conditions. The Biobank contains samples such as blood, muscle, skin biopsies, spinal fluid, and other clinical specimens, collected from donors with muscular dystrophy, myotonic dystrophy, related neurological disorders, and unaffected family members. Samples can be collected with your consent during routine clinic visits, during scheduled surgical procedures, or after death with your family’s consent. The Biobank organizers then store these samples so that they can be shared with scientists throughout the world for research. These samples are tremendously valuable for determining how neuromuscular conditions affect the body, which will help develop meaningful treatments.

Our Biobank History

The Stanford Neuromuscular Biobank was established in 2011 when Dr. John Day became Director of Stanford’s Division of Neuromuscular Medicine. He recognized the need of researchers for biological samples from clinically and genetically characterized patients, and the value of engaging patients in all aspects of research. Through an anonymous Biobank startup donation in 2013 he was able to launch the repository, transfer many tissues from Minnesota to Stanford, and to begin collecting new biological specimens. Through local and national outreach events such as the MDF’s annual conferences, the Stanford myotonic dystrophy research program has enrolled more than 450 individuals with myotonic dystrophy to their Recruitment Database for upcoming studies and trials, and more than 50 to the Biobank to potentially donate tissues in the future. Along the way the Biobank has collected more than 4000 specimens from people with neuromuscular conditions, including half from donors with myotonic dystrophy. More than 300 samples have been shared with researchers across the world, aiding in the understanding of myotonic dystrophy and other neuromuscular conditions.

How Can You Donate Biological Samples to the Biobank?

  • With routine surgeries scheduled in advance, you can contact us to determine whether a sample might be transferrable from your hospital or clinic to ours
  • Enroll in the Biobank to indicate your interest or intent on donating tissues when you pass away, speak to your family about your desire to donate
  • Stanford patients coming in for routine neuromuscular clinic visits can donate blood
  • Volunteers with myotonic dystrophy or unaffected friends or family who are willing to drive to Stanford can donate spinal fluid
  • If someone has not pre-enrolled in the Biobank, family members can call us when their loved one is expected to pass, or the same day as passing
  • Biological samples can be collected throughout the U.S., and rarely internationally, and shipped to the Biobank
  • Financial support – running a repository is costly, and we appreciate financial donations

How Can You Reach the Stanford Biobank to Learn More?

We would be happy to mail you our Information and Enrollment Package, or you can find it on our website online. Feel free to call us to ask any questions!

Email:   stanfordbiobank@lists.stanford.edu 

Phone: (650) 497-9807 (Biobank)
              (650) 723-9574 (Lab)

Mail:      Dr. John Day’s laboratory
              1201 Welch Road, MSLS Rm P220, M/C 5489
              Stanford, CA 94305

Fax:      (650) 736-6603

Website: https://med.stanford.edu/day-lab/biobank

Financial Support can be sent to: http://giving.stanford.edu/goto/medgift/, please add donation designation as “Dr. John Day’s Biobank”.

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