Juliana Wetmore

Juliana has trecher collins syndrome. This story is famous in the world.
Juliana was born in March of 2003. Her pregnancy was "normal" in the beginning. At our first ultrasound, her stomach could not be found. We were brought back two weeks later for another one, when she was a little larger. Still her stomach was not seen.

Who discoverd threacher collins syndrome?

Interesteing fact of treacher collins syndrome.-1

The Discovery of Treacher Collins Syndrome Who discovered Treacher Collins syndrome? An English surgeon named Edward Treacher Collins discovered this medical condition in 1900. During that time, he was able to describe the essential traits of the disease. He was also an ophthalmologist. One of his widely recognized works was entitled “Researches into the Anatomy and Pathology of the Eye,” which was released in 1896.

Batten disease has not treatment.

Interesting fact - 2
As yet, no specific treatment is known that can halt or reverse the symptoms of Batten Disease/NCL. However, seizures can be reduced or controlled with anticonvulsant drugs, and other medical problems can be treated appropriately as they arise. At the same time, physical and occupational therapy may help patients retain function as long as possible.

Interestion facts of batten diseaes -1

Batten Disease is named after the British pediatrician who first described it in 1903. Also known as Spielmeyer-Vogt-Sjogren-Batten Disease, it is the most common form of a group of disorders called Neuronal Ceroid Lipofuscinoses (or NCLs).

Although Batten Disease is usually regarded as the juvenile form of NCL, it has now become the term to encompass all forms of NCL.

The forms of NCL are classified by age of onset have the same basic cause, progression and outcome but are all genetically different Over time, affected children suffer mental impairment, worsening seizures, and progressive loss of sight and motor skills. Eventually, children with Batten Disease/NCL become blind, bedridden, and unable to communicate and it is presently always fatal. Batten Disease is not contagious or, at this time, preventable.

What should pregnant females do that have Marfan's syndrome?

If females have marfan syndrome,they should not get pregnant.
If they don't, they must prevent strongly for thier kids.
ex) Prenatal tests

Interesting facts of Marfan syndrome

1. Abraham Lincoln probably had a medical condition called Marfan syndrome. Some of its symptoms are extremely long bones, curved spine, an arm span that is longer than the person's height, eye problems, heart problems and very little fat. It is a rare, inherited condition.

Batten disease

Batten disease (also known as Spielmeyer-Vogt-Sjögren-Batten disease) is a rare, fatal autosomal recessive neurodegenerative disorder that begins in childhood.
It is the most common form of a group of disorders called neuronal ceroid lipofuscinosis.

Batten disease is a rare disorder caused by the abnormal build-up of substances called lipopigments in the brain, eyes, and other parts of the body.

Early symptoms of this disorder usually appear between the ages of 5 and 10.
There is som symptoms :
1.Personality changes
2.Behavior changes
3.Slow learning
4.Clumsiness
5.Stumbling
6.Vision loss
7.Seizures

There is no tratments or cures for this disease. However vitamin A,C,D can help who have this disease.

About 2-4 of every 100,000 births are affected.
And there is no special race/ethnic groups what this disease affected.

Batten Disease/NCL is relatively rare, occurring in an estimated 2 to 4 of every 100,000 births in the United States.

Diagnostic tests used for Batten Disease:
1.Skin or tissue sampling.
2.Electroencephalogram or EEG.
3.Electrical studies of the eyes.
4.Brain scans.
5.Enzyme assay.
6.Genetic/DNA testing

Marfan Syndrome