Stromme Syndrome Ruby Blind

In today s video i spend some time answering the most frequently asked questions i receive about strømme syndrome and ruby.

Stromme syndrome ruby blind.

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. Ruby is truly 1 in a million. Both of these conditions are part of stromme syndrome. Ruby was truly living up to her name.

Angie is ruby s momma and biggest cheerleader. This information comes directly from the omim website. Stromme syndrome stroms is caused by compound heterozygous mutation in the cenpf gene on chromosome 1q41. After 56 days in the nicu my tiny 4 lb.

Baby girl was finally able to come home. The front third of the eye is typically underdeveloped and there is usually moderate. 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.

It was so rare at the time that only three other people in the world had the diagnosis. She is learning about 1 2 new words every week. 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. Stromme syndrome is an autosomal recessive congenital disorder affecting multiple systems with features of a ciliopathy.

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. Angie and ruby are a mother daughter team on a mission to make the world a more inclusive accepting and loving place. 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.

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. At birth these findings led doctors to believe that ruby was completely blind in both eyes. As far as angie knows there are less than 50 cases of stromme syndrome in the world. The omim literature goes on to say.