{"id":11442,"date":"2020-05-05T10:51:31","date_gmt":"2020-05-05T17:51:31","guid":{"rendered":"https:\/\/mr66givry2.onrocket.site\/?post_type=family-stories&p=11442"},"modified":"2025-12-29T10:52:44","modified_gmt":"2025-12-29T18:52:44","slug":"herbert-familys-journey","status":"publish","type":"family-stories","link":"https:\/\/myotonic.org\/fr\/family-stories\/herbert-familys-journey\/","title":{"rendered":"The Herbert Family’s Journey"},"content":{"rendered":"
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In 2005, David Herbert learned he had myotonic dystrophy (DM), following a cascade of DM diagnoses through his extended family. It began with a cousin who was tested after experiencing symptoms. Then another cousin decided to get tested, and to test her sons – who were all found to have the disease.<\/div>\n<\/div>\n
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So David, his mother and his four siblings all decided to get tested together at the Mayo Clinic in Rochester, Minnesota, where David had been a senior administrator for more than a decade.<\/p>\n

David, his mother, and two of his siblings tested positive.\u00a0\u00ab\u00a0It became a topic within our family,\u00a0\u00bb\u00a0says David, who had reached his fifties without experiencing any symptoms of DM other than cataracts. \u00ab\u00a0What does this mean? I\u2019d never heard of this disease. I think that\u2019s a fairly common situation for people who find out they have myotonic dystrophy. It becomes a journey of awareness and education.\u00a0\u00bb<\/p>\n

A decade later, David had\u00a0learned a lot about DM, and he\u00a0joined the\u00a0Myotonic Board of Directors<\/a>, bringing experience and skills learned in a lifetime of leadership in healthcare organizations.<\/p>\n

\u00ab\u00a0Should We Test the Girls?\u00a0\u00bb<\/h2>\n

After learning he had\u00a0DM, David and his wife, Mary, were faced with a question: should they test their daughters, Greta and Lily, who were then in their mid-teens? On the one hand, it would be good to know if the relatively mild symptoms the girls were experiencing –\u00a0fatigue, grip changes, some gastrointestinal symptoms –\u00a0might be due to DM. But the couple also worried about a possible DM diagnosis showing up on the girls’ medical records, and\u00a0what that could mean for insurance coverage, for example.<\/p>\n

\u00ab\u00a0In the end, we felt it was worthwhile to proceed, to help us understand all the issues and help them be healthy,\u00a0\u00bb\u00a0David recalls. \u00ab\u00a0We also thought it was quite possible that one or both girls eventually might want to start a family of their own, and that when they did –\u00a0probably within the next ten years –\u00a0we would want them to be tested for sure. Why not do it now, so we could have that knowledge?\u00a0\u00bb<\/p>\n

The geneticist who tested the girls assured David that they were not likely to have more than David\u2019s own\u00a0relatively small\u00a0number of CTG triplicate repeats, a genetic marker which provides a rough measure of potential severity for DM1. In fact, it is now known that repeats tend to increase with each generation, through\u00a0a process known as\u00a0anticipation<\/a>,\u00a0and Greta and Lily were found to have ten times the number of repeats David has. \u00ab\u00a0That was very sobering information,\u00a0\u00bb\u00a0David says. \u00ab\u00a0In a way, it was great that we got them tested, because it turned out to be a higher level of disease, making it much more likely there could be serious challenges ahead.\u00a0\u00bb<\/p>\n

A Baby to Come?<\/h2>\n

15 years\u00a0after David and his daughters were diagnosed with DM\u00a0he remains asymptomatic, while Greta and Lily have both experienced gradual progression of their symptoms. Both women have experienced muscle weakness and GI issues. Greta has been particularly affected by fatigue, and Lily by joint pain. Both daughters are tested yearly to detect the emergence of possible cardiac complications. Still, both women are able to work.<\/p>\n

Lily and her husband, Steve, who married in 2011, wanted to have children and chose to use a version of in vitro fertilization during which embryos are genetically screened for DM before implantation. \u00ab\u00a0It\u2019s a laborious process,\u00a0\u00bb\u00a0David says, \u00ab\u00a0but the other route is just to gamble and see what happens. I think Lily has respect for this disease and thought it would be better for her children not to have it if possible.\u00a0\u00bb<\/p>\n

David and Mary were also concerned that a pregnancy could worsen Lily\u2019s DM symptoms. \u00ab\u00a0It\u2019s a fairly big load on your body, even for healthy people,\u00a0\u00bb\u00a0he says. \u00ab\u00a0We were worried but we were helped immensely by the information available from Myotonic.\u00a0\u00bb<\/p>\n

\u00ab\u00a0The IVD route is not easy nor is it always successful,\u00a0\u00bb David said, \u00ab\u00a0but we now have two beautiful granddaughters, Sophia, now 4, and Rylee, 2, and both are DM free.\u00a0\u00bb<\/p>\n

Finding More Time to Work on DM<\/h2>\n
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David Herbert\u2019s long tenure at the Mayo Clinic was focused on business development, technology, partnerships, and new ventures. In late 2014, David retired from the giant medical system,\u00a0in part to begin his own new business venture, but also to devote more time applying his experience and skills to DM.<\/p>\n

\u00ab\u00a0I was so busy in my job,\u00a0and I wanted to have time to focus on what was really important,\u00a0\u00bb\u00a0David says, \u00ab\u00a0and I felt more and more that helping with myotonic dystrophy is important. There\u2019s a lot of work that needs to be done.\u00a0\u00bb<\/p>\n

One initiative David helped launch was a database study at Mayo and Optum Labs to learn more about what he calls the \u00ab\u00a0burdens\u00a0\u00bb\u00a0of DM –\u00a0the economic, social and other costs associated with the disease. Understanding these burdens is crucial to getting businesses and governments working toward a cure, he believes, \u00ab\u00a0whether it\u2019s helping a drug company understand the drivers of the disease or helping insurers and the government know more about cost-benefit issues when looking at reimbursement.\u00a0\u00bb<\/p>\n

He also supports Myotonic\u2019s efforts to get young scientists involved in DM research, and to create patient registries\u00a0so that drug companies have information critical to clinical trial development.<\/p>\n

\u00ab\u00a0The work is energizing for me,\u00a0\u00bb\u00a0David says. \u00ab\u00a0Since we\u2019re affected by this disease –\u00a0with our kids and all –\u00a0we want to do everything we can to move toward solutions. It\u2019s very gratifying to me to be able to help.\u00a0\u00bb<\/p>\n<\/div>\n<\/div>\n<\/div>\n","protected":false},"featured_media":11443,"template":"","class_list":["post-11442","family-stories","type-family-stories","status-publish","has-post-thumbnail","hentry"],"_links":{"self":[{"href":"https:\/\/myotonic.org\/fr\/wp-json\/wp\/v2\/family-stories\/11442","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/myotonic.org\/fr\/wp-json\/wp\/v2\/family-stories"}],"about":[{"href":"https:\/\/myotonic.org\/fr\/wp-json\/wp\/v2\/types\/family-stories"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/myotonic.org\/fr\/wp-json\/wp\/v2\/media\/11443"}],"wp:attachment":[{"href":"https:\/\/myotonic.org\/fr\/wp-json\/wp\/v2\/media?parent=11442"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}