{"id":55041,"date":"2019-05-23T17:35:30","date_gmt":"2019-05-23T23:35:30","guid":{"rendered":"https:\/\/www.globaldownsyndrome.org\/?p=55041"},"modified":"2025-08-21T12:56:39","modified_gmt":"2025-08-21T18:56:39","slug":"moyamoya-disease","status":"publish","type":"post","link":"https:\/\/www.globaldownsyndrome.org\/uk\/moyamoya-disease\/","title":{"rendered":"What Families Should Know About Moyamoya Disease"},"content":{"rendered":"

\"\"
\nMaria Dellapina and her daughter, Erin Farragher<\/em><\/span><\/p>\n

From Down Syndrome WorldTM<\/sup><\/a> Issue 1 2019<\/em><\/p>\n

This rare disease is significantly more common in children with Down syndrome. Understanding symptoms and early detection could save a life.<\/strong><\/p>\n

\u201cWHAT IS MOYAMOYA DISEASE?\u201d<\/strong> many readers may be asking themselves. It is a rare blood vessel disease caused by blocked arteries in the brain. The name \u201cmoyamoya\u201d is derived from a Japanese term meaning \u201cpuff of smoke,\u201d because the tangle of vessels often resembles a small puff of smoke. Occurring in approximately 1 out of every 100,000 people, moyamoya disease can be fatal if left undiagnosed and untreated. It is estimated that people with Down syndrome are 26 times more likely to develop the disease, compared with the typical population. It is important for parents of children with Down syndrome to know the warning signs and next steps if their child is diagnosed.<\/p>\n

A MOTHER\u2019S STORY<\/strong><\/span><\/p>\n


\n<\/a>This article was published in the award-winning Down Syndrome World\u2122<\/a> magazine. Become a member<\/a> to read all the articles and get future issues delivered to your door! <\/span><\/div>\n

Maria Dellapina, from Burton, Ohio, is the founder of the award-winning adaptive eyewear company, Specs4Us. Her daughter, Erin Farragher, happens to have Down syndrome. When Erin was 16 years old, she began experiencing unusual symptoms of shaking , fainting, and muscle aches.<\/p>\n

\u201cErin called out to me, I turned around, and she was shaking all over and fell to the ground,\u201d recalls Dellapina. Initially, Dellapina thought her daughter had experienced a mini-stroke, but Erin bounced back quickly.<\/p>\n

However, Erin\u2019s symptoms continued to occur \u2014 more headaches, more muscle aches, and poor balance. In Dellapina\u2019s search for answers, she received an email from a parent, who, based on his experience with his daughter, advised Dellapina to look into moyamoya disease, a term with which she was unfamiliar.<\/p>\n

Growing increasingly concerned with Erin\u2019s \u201coff\u201d behavior over the next few days, Dellapina decided to take Erin to the emergency department at a local hospital.<\/p>\n

\u201cWhen I pulled into the parking lot, Erin star ted throwing up,\u201d Dellapina recalls. \u201cThe physicians thought Erin had the flu. They even laughed when I mentioned moyamoya.\u201d<\/p>\n

Not convinced, Dellapina took Erin to another hospital in Cleveland. A CT scan revealed Erin had suffered from a stroke. In fact, it was just one of several strokes and transient ischemic attacks (TIAs), also called \u201cmini-strokes,\u201d that Erin had apparently experienced throughout her young life. Later, at Cleveland Clinic, an MRI and angiogram led physicians to diagnose Erin with moyamoya disease.<\/p>\n

LEARNING ABOUT MOYAMOYA<\/strong><\/span><\/p>\n

Anytime families receive an unexpected diagnosis, it can be very overwhelming and scary. Knowing the facts and what to expect can help ease some of that fear. Moyamoya disease occurs when the internal carotid arteries at the front of the neck that supply the brain with oxygenated blood gradually narrow, says Raphael Sacho, M.D., F.R.C.S., Assistant Professor of Neurosurgery at the Medical College of Wisconsin. As those vessels narrow, the two vertebral arteries at the back of the neck compensate by developing small blood vessels called collaterals. This causes a tangling of blood vessels in the brain, restricting blood flow.<\/p>\n

\u201cCollaterals take over the function of the internal carotid arteries over time,\u201d Dr. Sacho explains. \u201cThat, in itself, can cause problems because the collaterals can be small, thin, and not used to taking so much blood. They can burst and cause bleeding.\u201d<\/p>\n

As a result, many people with moyamoya disease experience strokes, just as Erin did. All types of strokes share symptoms such as headaches, seizures, visual disturbances, one-sided weakness, slurred speech, involuntary movements, and cognitive impairment. Some common strokes that occur with people who have moyamoya disease are TIAs, ischemic strokes, and hemorrhagic strokes. TIAs occur when blood flow to the brain is interrupted briefly but then resumes, which is why they are often called \u201cmini-strokes.\u201d Ischemic strokes occur as a result of a blood clot completely blocking an artery that supplies the brain with blood. Hemorrhagic strokes \u2014 major brain bleeds \u2014 may occur if blood vessels or collaterals burst.<\/p>\n

The reason people with or without Down syndrome develop moyamoya disease is unclear.<\/p>\n

It\u2019s thought that genetics may play a role, as several mutations to the gene RNF213 are associated with moyamoya disease. Infection or inflammation may also be involved in its development, according to the National Institutes of Health (NIH).<\/p>\n

\"\"
\nMary Beth Freckmann and her daughter, Madie Ehlers<\/em><\/span><\/p>\n

PREVALENCE AND THE IMPORTANCE OF EARLY DETECTION<\/strong><\/span><\/p>\n

\u201cIn the United States, it was thought moyamoya disease occurred in 0.1 per 100,000 people,\u201d says Gary Steinberg, M.D., Ph.D., Chair of Neurosurgery, Director of the Stanford Moyamoya Center, and Founder and Co-Director of the Stanford Stroke Center. \u201cMore recent studies have shown the incidence may be 0.5 or closer to 1 per 100,000 because it\u2019s been under-recognized in the U.S.\u201d<\/p>\n

While the disease is rare in the general population, people with Down syndrome are 26 times more likely to develop the disease than typical people, according to Dr. Sacho. The reasons for that discrepancy are also unclear, though signs seem to point to genetics. He adds that, in Down syndrome, there\u2019s something about the triplication of chromosome 21 (the defining characteristic of Down syndrome) that predisposes this population to moyamoya disease.<\/p>\n

The disease can be more difficult to detect in children with Down syndrome than typical children, which may explain why, on average, children with Down syndrome are diagnosed with moyamoya disease nearly two years later than typical children. According to a 2015 study by researchers at Boston Children\u2019s Hospital, children with Down syndrome are usually diagnosed at age 8.4 versus 6.5 for typical children.<\/p>\n

A delayed diagnosis can allow moyamoya disease to progress to a more advanced stage.<\/p>\n

Dellapina believes an early diagnosis likely would have made a significant difference for her daughter, who, she now believes, showed signs of TIAs as early as age 11. In 2016, Erin underwent pial synangiosis surgery \u2014 the typical treatment for moyamoya disease. The procedure involves surgeons creating new blood vessels to supply the brain. It\u2019s believed these new blood vessels can do the job better and have a lower risk of bursting than the collaterals. Once the new vessels are functional, patients both with and without Down syndrome enjoy a normal life expectancy, Dr. Steinberg says.<\/p>\n

\u201cThat is why it\u2019s so important to diagnose and treat promptly,\u201d he says.<\/p>\n

Unfortunately, strokes and TIAs had already significantly damaged Erin\u2019s brain by the time she had surgery, which did not succeed in ending the strokes and seizures. Now 19, she receives hospice care while Dellapina focuses on giving her the best quality of life possible.<\/p>\n

For 25-year-old Madie Ehlers of Wisconsin, treatment has, so far, been successful. Born with Down syndrome, she was diagnosed with moyamoya disease in late 2013 at age 20. Like Erin, Madie experienced fleeting stroke-like symptoms and was initially misdiagnosed. She has had three surgeries since spring 2014 \u2014 two on the left side of her brain and one on the right, and her symptoms have disappeared.<\/p>\n

Today, Madie is back to being active in her community. She is training to become a certified Zumba instructor and plans to marry her boyfriend next year.<\/p>\n

\u201cMadie hasn\u2019t had any symptoms since two weeks after her most recent surgery in October 2018,\u201d says Madie\u2019s mother, Mary Beth Freckmann. \u201cDr. Sacho [who performed the surgery] really believes this will give her a very long life.”<\/p>\n

\n

Like this article?<\/em><\/strong> Join Global Down Syndrome Foundation\u2019s Membership program today to receive 4 issues of the quarterly award-winning publication, plus access to 4 seasonal educational Webinar Series, and eligibility to apply for Global\u2019s Employment and Educational Grants.
\nRegister today at downsyndromeworld.org<\/a>!<\/p>\n","protected":false},"excerpt":{"rendered":"

Maria Dellapina and her daughter, Erin Farragher From Down Syndrome WorldTM Issue 1 2019 This rare disease is significantly more common in children with Down syndrome. Understanding symptoms and early detection could save a life. \u201cWHAT IS MOYAMOYA DISEASE?\u201d many readers may be asking themselves. 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Become a\u2026","rel":"","context":"In "DSW Magazine"","block_context":{"text":"DSW Magazine","link":"https:\/\/www.globaldownsyndrome.org\/uk\/category\/dsw-magazine\/"},"img":{"alt_text":"Lungs","src":"https:\/\/i0.wp.com\/www.globaldownsyndrome.org\/wp-content\/uploads\/2017\/07\/lungs.jpg?resize=350%2C200&ssl=1","width":350,"height":200,"srcset":"https:\/\/i0.wp.com\/www.globaldownsyndrome.org\/wp-content\/uploads\/2017\/07\/lungs.jpg?resize=350%2C200&ssl=1 1x, https:\/\/i0.wp.com\/www.globaldownsyndrome.org\/wp-content\/uploads\/2017\/07\/lungs.jpg?resize=525%2C300&ssl=1 1.5x"},"classes":[]},{"id":151209,"url":"https:\/\/www.globaldownsyndrome.org\/uk\/crnic-institute-acquires-state-of-the-art-research-equipment-thanks-to-congressional-funding-secured-by-rep-crow\/","url_meta":{"origin":55041,"position":1},"title":"Crnic Institute Acquires State-of-the-Art Research Equipment Thanks to Congressional Funding Secured by Rep Crow","author":"Global Down Syndrome Foundation","date":"27 \u041a\u0432\u0456\u0442\u043d\u044f, 2023","format":false,"excerpt":"New Research Capability Will Accelerate Breakthrough Immune System Dysregulation Research in People with Down Syndrome DENVER \u2013 Thursday, April 27 \u2013 Today, the Global Down Syndrome Foundation (GLOBAL) announced its affiliate, the Linda Crnic Institute for Down Syndrome at the University of Colorado Anschutz Medical Campus (Crnic Institute), has acquired\u2026","rel":"","context":"In "Press Releases"","block_context":{"text":"Press Releases","link":"https:\/\/www.globaldownsyndrome.org\/uk\/category\/press-releases\/"},"img":{"alt_text":"","src":"https:\/\/i0.wp.com\/www.globaldownsyndrome.org\/wp-content\/uploads\/2023\/04\/Crnic-Photo1-scaled.jpg?resize=350%2C200&ssl=1","width":350,"height":200,"srcset":"https:\/\/i0.wp.com\/www.globaldownsyndrome.org\/wp-content\/uploads\/2023\/04\/Crnic-Photo1-scaled.jpg?resize=350%2C200&ssl=1 1x, https:\/\/i0.wp.com\/www.globaldownsyndrome.org\/wp-content\/uploads\/2023\/04\/Crnic-Photo1-scaled.jpg?resize=525%2C300&ssl=1 1.5x, https:\/\/i0.wp.com\/www.globaldownsyndrome.org\/wp-content\/uploads\/2023\/04\/Crnic-Photo1-scaled.jpg?resize=700%2C400&ssl=1 2x, https:\/\/i0.wp.com\/www.globaldownsyndrome.org\/wp-content\/uploads\/2023\/04\/Crnic-Photo1-scaled.jpg?resize=1050%2C600&ssl=1 3x, https:\/\/i0.wp.com\/www.globaldownsyndrome.org\/wp-content\/uploads\/2023\/04\/Crnic-Photo1-scaled.jpg?resize=1400%2C800&ssl=1 4x"},"classes":[]},{"id":27176,"url":"https:\/\/www.globaldownsyndrome.org\/uk\/globals-alzheimers-initiative-receives-500000\/","url_meta":{"origin":55041,"position":2},"title":"Global Awarded $500,000 for Down Syndrome-Alzheimer’s Research","author":"Global Down Syndrome Foundation","date":"7 \u041b\u0438\u043f\u043d\u044f, 2015","format":false,"excerpt":"This May, Colorado Governor John Hickenlooper, State Senator Mike Johnston, and the state legislature allocated $500,000 for the Rocky Mountain Alzheimer\u2019s Disease Center, a Global affiliate. The state has now invested $1.25 million over three years to support the first Alzheimer\u2019s disease research and clinical care center in Colorado, and\u2026","rel":"","context":"In "Blog"","block_context":{"text":"Blog","link":"https:\/\/www.globaldownsyndrome.org\/uk\/category\/blog\/"},"img":{"alt_text":"2014-321day-s-25 for WEb","src":"https:\/\/i0.wp.com\/www.globaldownsyndrome.org\/wp-content\/uploads\/2015\/07\/2014-321day-s-25-for-WEb-531x354.jpg?resize=350%2C200","width":350,"height":200},"classes":[]},{"id":19901,"url":"https:\/\/www.globaldownsyndrome.org\/uk\/alzheimers-initiative-receives-250000-from-state-of-colorado\/","url_meta":{"origin":55041,"position":3},"title":"Alzheimer’s initiative receives $250,000 from state of Colorado","author":"Global Down Syndrome Foundation","date":"31 \u041b\u0438\u043f\u043d\u044f, 2014","format":false,"excerpt":"Colorado Gov. John Hickenlooper signs Senate Bill 14-211 into law on June 5, 2014 Donate to the Alzheimer's research initiative today The Global Down Syndrome Foundation\u2019s Alzheimer\u2019s disease initiative received a big boost from the state of Colorado this year when Governor John Hickenlooper signed a bill passed by the\u2026","rel":"","context":"In "Blog"","block_context":{"text":"Blog","link":"https:\/\/www.globaldownsyndrome.org\/uk\/category\/blog\/"},"img":{"alt_text":"Colorado Gov. 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