{"id":11839,"date":"2013-07-12T08:02:03","date_gmt":"2013-07-12T15:02:03","guid":{"rendered":"https:\/\/mr66givry2.onrocket.site\/?post_type=family-stories&p=11839"},"modified":"2025-12-30T08:03:59","modified_gmt":"2025-12-30T16:03:59","slug":"cecilias-story-caregivers-perspective","status":"publish","type":"family-stories","link":"https:\/\/myotonic.org\/de\/family-stories\/cecilias-story-caregivers-perspective\/","title":{"rendered":"Cecilia’s Story: A Caregiver’s Perspective"},"content":{"rendered":"
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\u201cOur family\u2019s story begins when my undiagnosed daughter, Danielle, almost died giving birth and one of her twins had an initial APGAR score of zero. That was a pretty dismal beginning.\u201d This is how Cecilia Stearns started the conversation when we asked her to share her family\u2019s story with us. Though their journey has been bumpy, and at times scary, Cecilia, Danielle and the twins, Matthew and Jonathan, are finding their way by seeking out the support and services they need and learning to take life one day at a time.<\/div>\n<\/div>\n
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\u201cMy advice to people with a child who has congenital myotonic dystrophy would be \u2018do not assume that your child\u2019s difficult beginning is a reliable indicator of what lies ahead,\u201d Cecilia says. \u201cThe twins will be teenagers this year and my daughter is still here to tuck them in at night. There\u2019s no upside to thinking the worst. Being able to adjust is the best thing anyone can do. Educate yourself, find the best doctors and support. And don’t let the disease become all there is in your life.\u201d<\/p>\n

Danielle has DM type 1 and Matthew and Jonathan were born with congenital myotonic dystrophy. Cecilia and her husband, who are semi-retired and self-employed in Silicon Valley, have relinquished the typical \u201cgolden years\u201d to care for their daughter and grandsons, which they have been doing for the past 12 years.<\/p>\n

While in the hospital with her daughter for the birth of the twins, Cecilia was asked to leave the O.R. where Danielle was undergoing a C-section. \u201cI was told they were trying to save my daughter\u2019s life and that she was hemorrhaging, but I had no idea what was going on. It wasn\u2019t until later that I found out she had a pregnancy complication called placenta accreta. When the twins were born, Matthew was not breathing and was immediately intubated and given chest compressions. It was several minutes before his doctors were able to bring him back. They saved his life.\u201d says Cecilia.<\/p>\n

Adjusting and Finding Support<\/h2>\n

The early years were challenging. The family had no idea that Danielle was living with DM. Her symptoms appeared during her early teen years and only became life threatening during labor. \u201cIn retrospect, it all makes sense,\u201d Cecilia says. \u201cDanielle\u2019s adolescent symptoms were basically central nervous system problems rather than physical ones. She had some social problems, daytime sleepiness, learning problems, and personality issues, all of which we now know are associated with juvenile onset DM. Nothing seemed severe enough that we felt compelled to pursue a medical diagnosis,\u201d Cecilia explains.<\/p>\n

Danielle saw family counselors, tutors and all types of specialists, but the family considered her issues a matter of personality, not physical health.<\/p>\n

\u201cMany people have no idea that DM is genetic. Oftentimes symptoms don\u2019t appear until adolescence, as they did with Danielle, or later in adulthood,\u201d Cecilia continues. Danielle had inherited DM from her father, Cecilia\u2019s first husband, who was asymptomatic. \u201cThis is why DM is such a mysterious disease. There is a potpourri of symptoms and varying ages of onset — and it doesn\u2019t affect anyone exactly the same way.\u201d<\/p>\n

After Danielle left the hospital, everyone was in survival mode. \u201cWe were in shock,\u201d says Cecilia. \u201cAfter 50 days in the NICU, both twins were home and their nursery was filled with oxygen tanks and sensors, kangaroo pumps, and heart monitors. The only thing on our minds at that time was making sure the children survived and remembering how to use all the equipment.\u201d<\/p>\n

Eventually, the family settled into a routine. Armed with a diagnosis and the determination to get educated, Cecilia transitioned from survival mode to proactive mode. She wanted to learn as much as she could and find some form of support: a community.<\/p>\n

Around 2006 Cecilia found Lisa Harvey’s Yahoo support group for parents of children with congenital and juvenile onset DM. \u201cShe was my life support back then and we remain close friends,\u201d Cecilia remembers. Cecilia still remains active in the Myotonic\u00a0community by offering support, tracking research and attending support group meetings.<\/p>\n

Moving Forward<\/h2>\n

The boys are still very needy. At age 12, they\u2019re still in diapers and Jonathan cannot speak words, though he does find ways to communicate. Matthew is learning but he\u2019ll never be a strong speaker, according to Cecilia. \u201cI still find it amazing how differently congenital myotonic dystrophy has affected our fraternal twins. Matthew is very mellow and he is the hugger of the family. Jonathan is very autistic-like with sensory and behavior issues. After a two-year struggle, we managed to get him placed in an autism program where he is doing well. Sometimes it pays to be the squeaky wheel.\u201d<\/p>\n

Danielle\u2019s symptoms have progressed slowly. She has extreme gastrointestinal issues, daytime sleepiness, and has difficulty going up stairs. Her hand grip has weakened and she has occasional muscle cramping but she\u2019s still mobile on her own. Despite all that, Cecilia feels lucky. She feels they have the best care possible with their neurologist, Dr. John Day, Stanford Professor of Neurology, Pediatrics, and Pathology, who heads up the integrated Lucile Packard Children\u2019s Hospital, Stanford Hospital, and Stanford University Neuromuscular Program. \u201cIt can’t get any better than that,\u201d she says.<\/p>\n

\u201cPeople ask me, \u2018How do you do it?\u2019 but I don\u2019t feel special,\u201d Cecilia concludes. \u201cYou just do what you have to do. We\u2019re all here and doing as well as we can. The typical retirement does not exist for us, but we\u2019ve got our daughter and two 12-year-olds who need us. We get so much love in return and I can\u2019t imagine my life without them. I keep in my office a picture of Matthew when he was in the NICU. There\u2019s a jumble of cords covering his tiny body. Above it, I have his latest school picture. To me, that is the ultimate picture of hope.\u201d<\/p>\n<\/div>\n<\/div>\n<\/div>\n","protected":false},"featured_media":11840,"template":"","class_list":["post-11839","family-stories","type-family-stories","status-publish","has-post-thumbnail","hentry"],"_links":{"self":[{"href":"https:\/\/myotonic.org\/de\/wp-json\/wp\/v2\/family-stories\/11839","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\/11840"}],"wp:attachment":[{"href":"https:\/\/myotonic.org\/de\/wp-json\/wp\/v2\/media?parent=11839"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}