Angie and Ruby are a mother-daughter team on a mission to make the world a more inclusive, accepting and loving place. Our journey into social media disability advocacy began with a viral video, which gave us an amazing platform to spread happiness to millions of people around the world.
Ruby is 14 and has a rare genetic condition called Stromme Syndrome. Angie is her momma and cheerleader. 😻
In 2015, it was identified that harmful changes in the gene CENPF are the cause of Stromme Syndrome. This is a labor of love, born out of an idea that came to me when I posted a video of Ruby beading a bracelet a few months ago and we received TONS of requests for her to start selling them! Ever since then, we have been working to create a shop that not only spreads awareness, but also gives back to the disability community. Ruby is 1 of 12 known cases of Stromme syndrome in the world.
Stromme syndrome is an autosomal recessive genetic condition. Angie's daughter Ruby has Microcephaly, and vision impairment. She has been diagnosed with Stromme syndrome. Stromme syndrome is so rare, that there are only 12 people in the world like Ruby. Stromme syndrome arises due to genetic mutations in the CENPF gene.
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Par Dorothy Cummings McLean (LifeSiteNews) traduit par Campagne Québec-VieRuby Ardolf est une jeune fille de 12 ans, atteinte d'une maladie génétique rare, le syndrome de Stromme, qui cause une déficience visuelle, la microencéphalie, des problèmes intestinaux, un retard de croissance et des troubles de développement. One of the most notable case of Stromme syndrome is involving Ruby Ardolf which born in 2004.
(4) Meet Angie & Ruby | Learn more about Stromme Syndrome - YouTube Disability ourselves and share a little more information on Ruby's genetic conditio.
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Ruby is a 14-year old girl with a rare genetic condition called Stromme Syndrome, which causes vision impairment, microcephaly, intestinal issues, slowed growth and developmental issues. Angie is Ruby's momma and biggest cheerleader. As far as Angie knows, there are less than 50 cases of Stromme Syndrome in the WORLD! Ruby is truly 1 in a million! Strømme syndrome is a very rare autosomal recessive genetic condition characterised by intestinal atresia (in which part of the intestine is missing), eye abnormalities and microcephaly. The intestinal atresia is of the "apple-peel" type, in which the remaining intestine is twisted around its main artery.
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Both of these conditions are part of Stromme Syndrome. At birth, these findings led doctors to believe that Ruby was completely blind in both eyes. What is Ruby’s diagnosis? Ruby has a rare genetic condition called Stromme Syndrome.
In addition, they are likely to have a high nasal bridge, and a large mouth with a small jaw.
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2019-03-18
👩👧 Angie is her momma. 🦮 @charliehelpsruby is her service dog.
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Ruby Ardolf ma 12 lat. Jest jedną z 12 osób na świecie, która zmaga się z rzadką chorobą genetyczną zwaną zespołem Stromme (Stromme syndrom).
Patients with Stromme syndrome will display a number of physical characteristics that will help medical professionals identify the condition. Patients with the syndrome are likely to be shorter than other people. In addition, they are likely to have a high nasal bridge, and a large mouth with a small jaw. Stromme is a Norwegian pediatrician who first identified the condition in two siblings. It was named after him in 2008 when another case was being studied by Van Bever et al. The condition is very rare and, since 2017, only 13 people have been diagnosed to have the condition.