Stromme Syndrome Ruby Blind

Stromme syndrome stroms is caused by compound heterozygous mutation in the cenpf gene on chromosome 1q41.

Stromme syndrome ruby blind.

Stromme syndrome is an autosomal recessive congenital disorder affecting multiple systems with features of a ciliopathy. After 56 days in the nicu my tiny 4 lb. Ruby is truly 1 in a million. 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.

Ruby has a rare genetic condition called stromme syndrome. As far as angie knows there are less than 50 cases of stromme syndrome in the world. She wanted to show you how she. Angie is ruby s momma and biggest cheerleader.

It was so rare at the time that only three other people in the world had the diagnosis. She also has bilateral peter s anomaly which causes thinning and clouding of the corneas and makes ruby s eyes appear as if they do not have an iris the colored part of the eye. 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 has been working hard on braille at high school and we try to practice a little bit every day after school.

Her genetic tests came back inconclusive but she was clinically diagnosed with a condition now known as stromme syndrome. In today s video i spend some time answering the most frequently asked questions i receive about strømme syndrome and ruby. Angie and ruby are a mother daughter team on a mission to make the world a more inclusive accepting and loving place. Baby girl was finally able to come home.

The omim literature goes on to say. One of the most popular questions i receive from our amazing viewers and follower is is ruby blind the short answer to that question is yes ruby is co. She is learning about 1 2 new words every week. Ruby was truly living up to her name.

The front third of the eye is typically underdeveloped and there is usually moderate. 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. Also i talk about how we decide. At birth these findings led doctors to believe that ruby was completely blind in both eyes.