Sarah and David Berman had never heard of myotonic dystrophy until their baby Zo\u00e9 was born with the congenital-onset form of the disease, which is known as\u00a0CDM.<\/p>\n
„Zo\u00e9 couldn\u2019t suck,“ Sarah recalls. „She was just kind of limp and open-mouthed. She didn\u2019t really cry. She had low muscle tone.“\u00a0Fortunately, Zo\u00e9 was able to breathe on her own, unlike many babies with CDM, but she spent two weeks in the neonatal intensive care unit and had to be nourished via a feeding tube for\u00a0awhile.<\/p>\n
\u201cThey brought a group of neurologists in, and they quickly suspected it was myotonic dystrophy (DM),\u201d David remembers. Because CDM is most often inherited from a mother who has adult-onset DM, even if her own symptoms are minimal, they then checked Sarah for myotonia, a delay in relaxing muscles after use, which is a hallmark of adult-onset\u00a0DM.<\/p>\n
\u201cThey had Sarah do the handshake test,\u201d says David, to see how long it would take her to relax her grip after shaking hands with a doctor, \u201cand that made them even more confident in their\u00a0diagnosis.\u201d<\/p>\n
Eventually, genetic testing of Sarah\u2019s blood and that of several family members (who live in France) confirmed that she had adult-onset DM1 with minimal symptoms, as did her father, two uncles and one cousin. Her brother, who was 19 when Zo\u00e9 was born, was found to have the juvenile-onset form of DM1, for which the main symptoms are often cognitive and psychosocial\u00a0abnormalities.<\/p>\n
The diagnosis came as a consolation to Sarah\u2019s brother, who finally had an explanation for many of the issues he had struggled with throughout his life. \u201cMy brother had symptoms of learning disability and stamina,\u201d Sarah says. \u201cHe would fall asleep in class, so they said he was lazy. They thought he had Asperger\u2019s syndrome, because a lot of people with myotonic dystrophy have autistic-like behaviors, things that are a little bit different, quirky. Zo\u00e9\u2019s diagnosis was a revelation, and he thought, \u2018Oh, at least there\u2019s a name for why I am\u00a0different.\u2019\u201d<\/p>\n
Perhaps even more importantly, her brother was found to have previously unrecognized cardiac problems related to his DM1 and recently had a pacemaker-defibrillator implanted. (Sarah was also found to have an irregular heartbeat, and she is being monitored by a cardiologist. So far, no treatment has been\u00a0needed.)<\/p>\n
The birth of MDF in 2007 coincided with Zo\u00e9\u2019s birth, although the Bermans did not learn of its existence immediately. During Zo\u00e9\u2019s first few months, they got help from the early intervention services provided by the state of New York. The help they got was great, David recalls, \u201cbut a lot of people that are working with neuro-atypical kids and special needs kids haven\u2019t been exposed to someone with myotonic dystrophy, which has such a wide range of\u00a0symptoms.\u201d<\/p>\n
That, he says, is why finding MDF in 2008, after the family moved to Piedmont, California, in the San Francisco Bay area, was so\u00a0helpful.<\/p>\n
One of the first ways in which Foundation helped them was via the\u00a0MDF Toolkit<\/a>, which can be downloaded from the website in several\u00a0languages.<\/p>\n \u201cThat was helpful because it explains what you need to be aware when you\u2019re interacting with doctors and caregivers, such as the dangers of anesthesia.\u201d David notes, \u201cThey were able to put that information in our hands right away and make us smarter and more empowered when talking to\u00a0physicians.\u201d<\/p>\n Since then, MDF has been extremely helpful in providing education, support and connections, David says, adding that MDF has further evolved since those early\u00a0days.<\/p>\n \u201cThe MDF Annual Conferences help foster community, but you also get medical professionals that talk about various aspects of the disease, like gastrointestinal issues, and breakout sessions that get very specific. I come away having learned a lot in a very small amount of\u00a0time.\u201d<\/p>\n David, who works on the business side of a midsize pharmaceutical company, appreciates the parts of the conferences devoted to discussion of new drug development for DM. \u201cIt\u2019s always encouraging to hear that progress is being made, as I know there are often challenges along the\u00a0way.\u201d<\/p>\n Sarah, who has taught middle school and high school students and now teaches preschoolers, values the educational insights and parent-to-parent connections she\u2019s received through MDF. \u201cI just feel that MDF has really embraced our family,\u201d\u00a0Sarah\u00a0says.<\/p>\n In February 2014, Sarah teamed up with other mothers to\u00a0create a webinar on tips for caring for children with CDM<\/a>. She also hosts her own blog,\u00a0Zo\u00e9\u2019s Latest Adventures and Other Stuff<\/a>. \u201cI\u2019ve connected with a lot of families with my blog,\u201d\u00a0she\u00a0says.<\/p>\n In addition, both Zo\u00e9 and Sarah have participated in several observational DM studies\u00a0that they learned about through MDF, and the Bermans are part of the\u00a0Myotonic Dystrophy Family Registry<\/a>, which collects anonymous data from families affected by DM and helps researchers find potential study\u00a0participants.<\/p>\n Through MDF, David says, the family has been able to connect with people who are \u201cfurther along than we are. For us, I think it has been helpful just to meet people in the community and learn about some of the issues they\u2019re\u00a0facing.\u201d<\/p>\n Sarah, now 44, says her DM symptoms remain quite manageable, although she recognizes that this may change. Her heart and eyes are regularly monitored, and her mobility is becoming somewhat\u00a0impaired.<\/p>\n \u201cI walk funny,\u201d she says. \u201cIf I go on a walk, I need David or a walking stick, but otherwise, I\u2019m pretty mobile. I do Pilates. I try to stay\u00a0active.\u201d<\/p>\n Teaching 4-year-olds is \u201cthe most exhausting job I\u2019ve ever done,\u201d she says. \u201cI don\u2019t know if I\u2019ll be able to do that for very much longer, but I like to be active. I also volunteer at a store where the money goes to the schools, and I volunteer at Zo\u00e9\u2019s school quite a\u00a0bit.\u201d<\/p>\n Zo\u00e9, now 8, is in second grade in a public school, with special supports, such as an aide and occupational, physical and speech therapies. \u201cMDFhas given us a lot of advice,\u201d Sarah says, mentioning in particular a\u00a0conference session on individualized education programs [IEPs]<\/a>\u00a0that was really helpful\u201d in planning Zo\u00e9\u2019s school\u00a0program.<\/p>\n The very active little girl has been wearing glasses since she was 4 months old and has had surgery to straighten one of her feet. She uses a transportation chair for long distances and wears ankle-foot orthoses (lower-leg braces\u00a0known as AFOs)\u00a0in school. She used a walker when she first started to walk (at age 2), but she no longer needs\u00a0one.<\/p>\n In addition to her general therapies, Zo\u00e9 participates in adaptive physical education, swimming, adaptive soccer and baseball, and therapeutic horse riding, also known as hippotherapy. In 2014, Sarah participated in a\u00a0webinar about this form of therapeutic recreation<\/a>\u00a0and was a panelist on the benefits of hippotherapy in children diagnosed with MD at the conference in Washington,\u00a0D.C.<\/p>\n Now that her daughter is getting older, Sarah says, the social barriers posed by her leg braces, weak mouth muscles and fatigue are more formidable than they were when she was\u00a0younger.<\/p>\n Sarah hopes someone will write a book for children about the disease. „There\u2019s awareness for autism in schools,“ she says, but school is a place where her daughter is often misread and\u00a0misunderstood.<\/p>\n In the classroom, Zo\u00e9\u2019s cognition and fatigue require attention and patience that teachers don\u2019t always have. \u201cI have explained to the teachers how her body impacts her everyday life,\u201d Sarah wrote in a recent post on\u00a0Zo\u00e9\u2019s Latest Adventures and Other Stuff<\/a>, \u201chow her muscles weaken, how her lack of focus and attention stem from this fatigue, how Zo\u00e9 can do great things if she is given the time to think, if you break down the tasks, if you shorten the exercise, if you give her a\u00a0chance!\u201d<\/p>\n Sarah has connected with other mothers of children with CDM through MDF Annual Conferences, the MDF website and a\u00a0MDF support group in Oakland, California. She\u2019d like to start a support group specifically for families with CDM-affected\u00a0children.<\/p>\n On her blog, Sarah doesn\u2019t sugar-coat anything. \u201cLife is hard and tough, and it is no easy feat to keep the chin up,\u201d she wrote on March 12, 2016. She writes about how hard it is for Zo\u00e9 in school, where she is often \u201cmisread and\u00a0misunderstood.\u201d<\/p>\n But in the same post, Sarah had this to say about herself and her growing daughter: \u201cI have been thinking about what I wrote a couple of years ago when I first started this blog \u2013 how Zo\u00e9’s disability and mine made me a better person. In fact, I think I was misguided. I am not a better person. I am a different person \u2013 different in every way, ready to conquer all challenges, ready to advocate for my child, ready to not let go of the fact that we all deserve a\u00a0chance.\u201d<\/p>\n","protected":false},"featured_media":8999,"template":"","class_list":["post-8998","family-stories","type-family-stories","status-publish","has-post-thumbnail","hentry"],"_links":{"self":[{"href":"https:\/\/myotonic.org\/de\/wp-json\/wp\/v2\/family-stories\/8998","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/myotonic.org\/de\/wp-json\/wp\/v2\/family-stories"}],"about":[{"href":"https:\/\/myotonic.org\/de\/wp-json\/wp\/v2\/types\/family-stories"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/myotonic.org\/de\/wp-json\/wp\/v2\/media\/8999"}],"wp:attachment":[{"href":"https:\/\/myotonic.org\/de\/wp-json\/wp\/v2\/media?parent=8998"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}Helping Zo\u00e9, Looking Ahead<\/h2>\n