Stromme Syndrome Ruby Blind

Angie is ruby s momma and biggest cheerleader.

Stromme syndrome ruby blind.

Ruby is truly 1 in a million. This information comes directly from the omim website. She is learning about 1 2 new words every week. Baby girl was finally able to come home.

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. 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. 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. At birth these findings led doctors to believe that ruby was completely blind in both eyes.

The front third of the eye is typically underdeveloped and there is usually moderate. Stromme syndrome is an autosomal recessive congenital disorder affecting multiple systems with features of a ciliopathy. Ruby was truly living up to her name. Also i talk about how we decide.

Stromme syndrome stroms is caused by compound heterozygous mutation in the cenpf gene on chromosome 1q41. Angie and ruby are a mother daughter team on a mission to make the world a more inclusive accepting and loving place. As far as angie knows there are less than 50 cases of stromme syndrome in the world. Her genetic tests came back inconclusive but she was clinically diagnosed with a condition now known as stromme syndrome.

It was so rare at the time that only three other people in the world had the diagnosis. Both of these conditions are part of stromme syndrome. She wanted to show you how she. Ruby has a rare genetic condition called stromme syndrome.

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. The omim literature goes on to say. 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. Ruby has been working hard on braille at high school and we try to practice a little bit every day after school.