{"id":8991,"date":"2015-04-06T15:21:32","date_gmt":"2015-04-06T22:21:32","guid":{"rendered":"https:\/\/mr66givry2.onrocket.site\/?post_type=family-stories&p=8991"},"modified":"2025-12-21T13:20:37","modified_gmt":"2025-12-21T21:20:37","slug":"a-physicians-family-confronts-dm","status":"publish","type":"family-stories","link":"https:\/\/myotonic.org\/fr\/family-stories\/a-physicians-family-confronts-dm\/","title":{"rendered":"A Physician’s Family Confronts DM"},"content":{"rendered":"

For Belen Esparis\u2019s daughter, Emily, the road to a myotonic dystrophy diagnosis began during an eye doctor\u2019s appointment when Emily was seven years old. The optometrist examined Emily\u2019s eyes and said he was concerned. The young girl\u2019s eye muscles were weak, he told Belen, adding that the condition was probably congenital and that other muscles might be involved\u00a0as well.<\/p>\n

Belen is herself a physician, and head of the sleep disorders clinic at Mount Sinai Medical Center in Miami. She and her husband, David, a businessman, came to the U.S. in the 1990s from Venezuela and have one other child, Emily\u2019s older brother, Max.<\/p>\n

With her medical background, Belen took Emily\u2019s optometrist\u2019s concerns seriously. But when she took those concerns to Emily\u2019s pediatrician, she was told that because she was a physician she was overreacting. \u201cI left that appointment thinking I might be crazy,\u201d Belen says.<\/p>\n

But to be sure, Belen decided to take Emily to a neurologist, who did an EMG muscle test and told Belen, \u201cI don’t know what\u2019s wrong with her, but her muscles are abnormal.\u201d It would take multiple blood tests and six more months before a definitive diagnosis of myotonic dystrophy (DM) was finally made. And it came as a complete surprise –\u00a0as far as Belen and David knew, no one in either of their families had been affected by the hereditary neuromuscular condition.<\/p>\n

\u201cLooking back, we should have realized that some of what we were seeing in Emily\u2019s development wasn\u2019t fully normal,\u201d Belen says. During the pregnancy, Belen had the sense that Emily was as not as active in utero as Max had been when she was pregnant with him. At birth, Emily had a suffered a collapsed lung, had to be intubated, and was in the ICU for ten days.<\/p>\n

\u201cThis clearly wasn\u2019t normal,\u201d Belen recalls, \u201cbut when we asked about it, we were told, \u2018it happens.\u2019\u201d<\/p>\n

Emily had been a floppy baby, and her development seemed delayed. So Belen and David arranged for physical therapy for their daughter. Emily walked just before she turned 18 months old –\u00a0the limit of what is considered normal –\u00a0and was generally a little behind in developmental milestones.<\/p>\n

\u201cOtherwise she seemed like a normal child,\u201d Belen recalls, although by the time of Emily\u2019s diagnosis, she was beginning to display other symptoms that might be related to her DM. For example, she showed decreased facial expression –\u00a0which Belen and David assumed was just part of her personality. At school, where she was in the first grade, she was easily distracted and falling asleep in class. As a sleep specialist herself, Belen now knows that \u201cDM is associated with every sleep disorder in the book.\u201d<\/p>\n

Reacting to a Diagnosis<\/h2>\n

Belen and David\u2019s reaction to Emily\u2019s diagnosis was markedly different, Belen recalls. In general, David was slow to become concerned, telling Belen that Emily seemed to be doing fine. \u201cBut as a physician, I knew what could be coming,\u201d Belen remembers. \u201cThat\u2019s all I could see in my head at that point. I could see her in a wheelchair –\u00a0that\u2019s not what I wanted for my daughter. David didn’t understand.\u201d<\/p>\n

\u201cThat\u2019s one way in which the Myotonic Dystrophy Foundation (MDF) helped us,\u201d Belen remembers. In 2012, shortly after Emily\u2019s diagnosis, the couple decided to attend the MDF Annual Conference in San Francisco. Belen believes that this was when David began to grasp the implications of the disease. \u201cWe were in the check-in line and he began to cry. \u2018Why are you crying?\u2019 I asked him. He said, \u2018All the attendees look like Emily.\u2019\u201d<\/p>\n

David agrees that the conference provided a profound education about DM. \u201cEven if I had read about the disease, it\u2019s not the same as meeting hundreds of people affected by it –\u00a0kids, brothers, husbands,\u201d he says. \u201cThere were all different levels of the condition at the conference. You got to see and talk to them. What also struck me was doctors saying how little they know about this condition. One of the leading DM physicians was asking for help from patients, saying we \u2018don’t have any data.\u2019 A biotech company researcher came to talk. When you hear about the research you get a perspective on how important it is.\u201d<\/p>\n

Supporting MDF<\/h2>\n
\"\"<\/div>\n

Since that meeting, Belen and David\u2019s relationship with MDF has deepened. As a physician and native Spanish speaker, Belen has helped to create a Spanish translation for the MDF Toolkit and spoke on DM and sleep disorders\u00a0at the 2013 MDF Annual Conference. But their main focus has been to raise money for research. \u201cAt the end of the day, that\u2019s the only way we\u2019re going to move forward toward a cure,\u201d David asserts.<\/p>\n

The couple has sponsored several word-of-mouth and email campaigns, making a personal solicitation to friends and family. Then they got the idea of participating in the\u00a0Miami Marathon\u00a0to raise funds for DM research. They got a group of friends together to run and make donations, and they solicited sponsorships from small businesses, putting their logos on the team tee shirts. David himself ran the half marathon in 2 hours and 45 minutes –\u00a0\u201cthe farthest I\u2019ve ever run,\u201d he says.<\/p>\n

\u201cIt was more to raise awareness and for fun than for money,\u201d Belen says. Nevertheless, they raised $11,000 for research support through the marathon and have raised more than $35,000 for MDF overall. \u201cPeople want to help,\u201d she says. \u201cIt\u2019s inspiring.\u201d<\/p>\n

The three years since her diagnosis have also brought changes for Emily. She has had a full year of physical and occupational therapy and dances 12 hours a week, and her muscles are much stronger than three years ago, her mother says. On the other hand, she been diagnosed with a malfunction of electrical conduction in the heart muscle, known as A-V block, and may someday need a pacemaker or implanted defibrillator to be sure her heart beats normally. She has myotonia in her hands and has begun to experience pain after eating.<\/p>\n

While Emily knows she has limits other kids don’t face, she has a very good attitude. \u201cI just want her to keep trying,\u201d Belen says.<\/p>\n","protected":false},"featured_media":8993,"template":"","class_list":["post-8991","family-stories","type-family-stories","status-publish","has-post-thumbnail","hentry"],"_links":{"self":[{"href":"https:\/\/myotonic.org\/fr\/wp-json\/wp\/v2\/family-stories\/8991","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\/8993"}],"wp:attachment":[{"href":"https:\/\/myotonic.org\/fr\/wp-json\/wp\/v2\/media?parent=8991"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}