Stromme Syndrome Ruby Blind

As far as angie knows there are less than 50 cases of stromme syndrome in the world.

Stromme syndrome ruby blind.

Ruby was truly living up to her name. Baby girl was finally able to come home. Ruby has been working hard on braille at high school and we try to practice a little bit every day after school. Ruby is truly 1 in a million.

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. Both of these conditions are part of stromme syndrome. She wanted to show you how she. Her genetic tests came back inconclusive but she was clinically diagnosed with a condition now known as stromme syndrome.

The omim literature goes on to say. Ruby has a rare genetic condition called stromme syndrome. 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. After 56 days in the nicu my tiny 4 lb.

This information comes directly from the omim website. 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. She was diagnosed with this condition when she was in the nicu but at the time it was called apple peel intestinal atresia ocular anomalies and microcephaly syndrome which is basically just a listing of the symptoms of the syndrome. She is learning about 1 2 new words every week.

Angie and ruby are a mother daughter team on a mission to make the world a more inclusive accepting and loving place. 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. Stromme syndrome stroms is caused by compound heterozygous mutation in the cenpf gene on chromosome 1q41. At birth these findings led doctors to believe that ruby was completely blind in both eyes.

In today s video i spend some time answering the most frequently asked questions i receive about strømme syndrome and ruby. The front third of the eye is typically underdeveloped and there is usually moderate. Angie is ruby s momma and biggest cheerleader. Stromme syndrome is an autosomal recessive congenital disorder affecting multiple systems with features of a ciliopathy.